#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
MEIOB	254528	broad.mit.edu	37	16	1889339	1889339	+	Silent	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr16:1889339G>A	ENST00000397344.3	-	12	1329	c.1135C>T	c.(1135-1137)Ctg>Ttg	p.L379L	LA16c-429E7.1_ENST00000570247.1_RNA|MEIOB_ENST00000470044.1_Silent_p.L172L|MEIOB_ENST00000452149.2_Silent_p.L379L|FAHD1_ENST00000382668.4_3'UTR|FAHD1_ENST00000382666.4_3'UTR|MEIOB_ENST00000412554.2_Silent_p.L379L|MEIOB_ENST00000325962.3_Silent_p.L379L	NM_152764.2	NP_689977.2	Q8N635	MEIOB_HUMAN	meiosis specific with OB domains	379					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)										AGATCAATCAGCACATGGAAA	0.423																																						ENST00000412554.2																			0											c.(1135-1137)Ctg>Ttg		meiosis specific with OB domains							95.0	90.0	92.0					16																	1889339		2199	4300	6499	SO:0001819	synonymous_variant	254528							g.chr16:1889339G>A	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.1135C>T	16.37:g.1889339G>A						MEIOB_ENST00000470044.1_Silent_p.L172L|MEIOB_ENST00000452149.2_Silent_p.L379L|MEIOB_ENST00000397344.3_Silent_p.L379L|FAHD1_ENST00000382666.4_3'UTR|FAHD1_ENST00000382668.4_3'UTR|MEIOB_ENST00000325962.3_Silent_p.L379L	p.L379L	NM_001163560.2	NP_001157032.1					12	1329	-								B1AK39|C9J0S1|Q96RY0	Silent	SNP	ENST00000397344.3	37	c.1135C>T	CCDS10449.2																																																																																				0.423	MEIOB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250580.1	NM_152764		3	44	0	0	0	1	0	3	44				
MROH2B	133558	broad.mit.edu	37	5	41058222	41058222	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr5:41058222C>G	ENST00000399564.4	-	7	1149	c.699G>C	c.(697-699)caG>caC	p.Q233H	MROH2B_ENST00000506092.2_5'UTR	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	233																	GCCAGGGCACCTGGCCCAGGG	0.532																																						ENST00000399564.4																			0											c.(697-699)caG>caC		maestro heat-like repeat family member 2B							75.0	74.0	75.0					5																	41058222		1911	4112	6023	SO:0001583	missense	133558							g.chr5:41058222C>G		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.699G>C	5.37:g.41058222C>G	ENSP00000382476:p.Gln233His					MROH2B_ENST00000506092.2_5'UTR	p.Q233H	NM_173489.4	NP_775760.3					7	1149	-								Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.699G>C	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.773444	0.31411	.	.	ENSG00000171495	ENST00000399564	T	0.06528	3.29	5.27	3.32	0.38043	Armadillo-type fold (1);	0.131532	0.35179	N	0.003381	T	0.04543	0.0124	L	0.29908	0.895	0.28485	N	0.914766	B	0.14805	0.011	B	0.14578	0.011	T	0.22626	-1.0211	10	0.34782	T	0.22	.	5.1201	0.14856	0.2204:0.6732:0.0:0.1065	.	233	Q7Z745	HTRB2_HUMAN	H	233	ENSP00000382476:Q233H	ENSP00000382476:Q233H	Q	-	3	2	HEATR7B2	41093979	0.962000	0.33011	0.989000	0.46669	0.879000	0.50718	0.510000	0.22723	1.419000	0.47118	0.650000	0.86243	CAG		0.532	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		3	23	0	0	0	1	0	3	23				
ITPR3	3710	broad.mit.edu	37	6	33656101	33656101	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr6:33656101G>A	ENST00000374316.5	+	49	7521	c.6461G>A	c.(6460-6462)cGg>cAg	p.R2154Q	ITPR3_ENST00000605930.1_Missense_Mutation_p.R2154Q			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2154					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)	ACCAAGCACCGGCTCTTCACC	0.597																																						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.(6460-6462)cGg>cAg		inositol 1,4,5-trisphosphate receptor, type 3							110.0	93.0	99.0					6																	33656101		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.chr6:33656101G>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.6461G>A	6.37:g.33656101G>A	ENSP00000363435:p.Arg2154Gln					ITPR3_ENST00000605930.1_Missense_Mutation_p.R2154Q	p.R2154Q			Q14573	ITPR3_HUMAN			49	7521	+			2154					Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.6461G>A	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	37	5.981936	0.97168	.	.	ENSG00000096433	ENST00000374316	D	0.91945	-2.94	5.53	5.53	0.82687	.	0.066724	0.64402	D	0.000012	D	0.91801	0.7406	L	0.47716	1.5	0.58432	D	0.999999	D;P	0.63046	0.992;0.85	P;B	0.53035	0.716;0.123	D	0.92048	0.5646	10	0.59425	D	0.04	-37.1723	19.4641	0.94931	0.0:0.0:1.0:0.0	.	2154;1824	Q14573;Q59ES2	ITPR3_HUMAN;.	Q	2154	ENSP00000363435:R2154Q	ENSP00000363435:R2154Q	R	+	2	0	ITPR3	33764079	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.854000	0.99522	2.594000	0.87642	0.650000	0.86243	CGG		0.597	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		46	105	0	0	0	1	0	46	105				
FAT2	2196	broad.mit.edu	37	5	150924794	150924794	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr5:150924794C>A	ENST00000261800.5	-	9	5906	c.5894G>T	c.(5893-5895)aGc>aTc	p.S1965I		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1965					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)			AAACTGCAAGCTTTTGTCAAG	0.483																																						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.(5893-5895)aGc>aTc		FAT atypical cadherin 2							55.0	58.0	57.0					5																	150924794		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.chr5:150924794C>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.5894G>T	5.37:g.150924794C>A	ENSP00000261800:p.Ser1965Ile						p.S1965I	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	5906	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1965					O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.5894G>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	9.738	1.164070	0.21538	.	.	ENSG00000086570	ENST00000261800	T	0.61627	0.09	5.08	1.76	0.24704	Cadherin (2);Cadherin-like (1);	0.700945	0.13462	N	0.386021	T	0.48187	0.1486	L	0.58810	1.83	0.09310	N	1	P	0.45902	0.868	B	0.36666	0.23	T	0.33904	-0.9850	10	0.48119	T	0.1	.	9.5374	0.39231	0.0:0.5032:0.3891:0.1078	.	1965	Q9NYQ8	FAT2_HUMAN	I	1965	ENSP00000261800:S1965I	ENSP00000261800:S1965I	S	-	2	0	FAT2	150904987	0.003000	0.15002	0.575000	0.28536	0.948000	0.59901	0.591000	0.23969	0.365000	0.24400	0.491000	0.48974	AGC		0.483	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		7	40	1	0	0.307466	1	0.310808	7	40				
MIR509-1	574514	broad.mit.edu	37	X	146342106	146342106	+	RNA	SNP	A	A	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:146342106A>T	ENST00000385265.1	-	0	37				MIR509-3_ENST00000390725.1_RNA|MIR509-2_ENST00000390724.1_RNA	NR_030236.1|NR_030586.1				microRNA 509-1																		ATTATACATGATTGCCACTGT	0.428																																						ENST00000385265.1																			0																				123.0	109.0	114.0					X																	146342106		1568	3579	5147			0							g.chrX:146342106A>T			Xq27.3	2011-09-12	2007-10-23	2008-12-18	ENSG00000208000	ENSG00000208000		"""ncRNAs / Micro RNAs"""	32146	non-coding RNA	RNA, micro		300875	"""microRNA 509"""	MIRN509, MIRN509-1			Standard	NR_030236		Approved	hsa-mir-509, hsa-mir-509-1	uc022cfy.1				X.37:g.146342106A>T								NR_030236.1|NR_030586.1						0	37	-									RNA	SNP	ENST00000385265.1	37																																																																																						0.428	MIR509-1-201	KNOWN	basic	miRNA	miRNA		NR_030236		5	267	0	0	0	1	0	5	267				
SHANK2	22941	broad.mit.edu	37	11	70333471	70333471	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr11:70333471T>C	ENST00000423696.2	-	15	1826	c.1790A>G	c.(1789-1791)aAc>aGc	p.N597S	SHANK2_ENST00000449833.2_Missense_Mutation_p.N381S|SHANK2_ENST00000409161.1_Missense_Mutation_p.N380S|SHANK2_ENST00000338508.4_Missense_Mutation_p.N977S			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	597					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)			GTTGCGGAAGTTGGCTTGCGG	0.592																																						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.(2929-2931)aAc>aGc		SH3 and multiple ankyrin repeat domains 2							110.0	113.0	112.0					11																	70333471		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.chr11:70333471T>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.1790A>G	11.37:g.70333471T>C	ENSP00000394536:p.Asn597Ser					SHANK2_ENST00000409161.1_Missense_Mutation_p.N380S|SHANK2_ENST00000423696.2_Missense_Mutation_p.N597S|SHANK2_ENST00000449833.2_Missense_Mutation_p.N381S	p.N977S			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		32	2929	-			597					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.2930A>G		.	.	.	.	.	.	.	.	.	.	T	0.048	-1.259134	0.01445	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.37915	2.47;2.47;3.19;1.17;2.59;2.59	4.85	-9.7	0.00521	.	0.371554	0.28989	N	0.013498	T	0.14657	0.0354	L	0.29908	0.895	0.41441	D	0.987929	B;B;B	0.10296	0.0;0.003;0.001	B;B;B	0.11329	0.001;0.006;0.004	T	0.49082	-0.8976	10	0.02654	T	1	.	9.6236	0.39737	0.0:0.2473:0.504:0.2486	.	597;976;381	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	S	381;380;255;977;597;615;600	ENSP00000399423:N381S;ENSP00000386491:N380S;ENSP00000402944:N255S;ENSP00000345193:N977S;ENSP00000394536:N597S;ENSP00000294018:N600S	ENSP00000294018:N600S	N	-	2	0	SHANK2	70011119	0.643000	0.27269	0.146000	0.22360	0.069000	0.16628	-0.182000	0.09726	-2.407000	0.00574	-1.046000	0.02355	AAC		0.592	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		5	170	0	0	0	1	0	5	170				
KCNK13	56659	broad.mit.edu	37	14	90650849	90650849	+	Silent	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr14:90650849G>A	ENST00000282146.4	+	2	1170	c.729G>A	c.(727-729)ctG>ctA	p.L243L		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	243					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)				TTGGGGACCTGGTCAGCAGCC	0.532																																						ENST00000282146.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25						c.(727-729)ctG>ctA		potassium channel, subfamily K, member 13							119.0	107.0	111.0					14																	90650849		2203	4300	6503	SO:0001819	synonymous_variant	56659					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:90650849G>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.729G>A	14.37:g.90650849G>A							p.L243L	NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN			2	1170	+		all_cancers(154;0.186)	243					B5TJL8|Q96E79	Silent	SNP	ENST00000282146.4	37	c.729G>A	CCDS9889.1																																																																																				0.532	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411251.1	NM_022054		19	33	0	0	0	1	0	19	33				
BSN	8927	broad.mit.edu	37	3	49692138	49692138	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr3:49692138A>T	ENST00000296452.4	+	5	5263	c.5149A>T	c.(5149-5151)Aac>Tac	p.N1717Y		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1717					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)		CTTGGTTATCAACCTCAATGC	0.567																																						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.(5149-5151)Aac>Tac		bassoon presynaptic cytomatrix protein							150.0	143.0	145.0					3																	49692138		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49692138A>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.5149A>T	3.37:g.49692138A>T	ENSP00000296452:p.Asn1717Tyr						p.N1717Y	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	5263	+			1717					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.5149A>T	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	A	14.65	2.597525	0.46318	.	.	ENSG00000164061	ENST00000296452	T	0.47177	0.85	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.70202	0.3197	M	0.79693	2.465	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75266	-0.3378	10	0.72032	D	0.01	.	15.0022	0.71483	1.0:0.0:0.0:0.0	.	1717	Q9UPA5	BSN_HUMAN	Y	1717	ENSP00000296452:N1717Y	ENSP00000296452:N1717Y	N	+	1	0	BSN	49667142	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	1.960000	0.56953	0.459000	0.35465	AAC		0.567	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		10	261	0	0	0	1	0	10	261				
BAG6	7917	broad.mit.edu	37	6	31612931	31612931	+	Silent	SNP	C	C	G			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr6:31612931C>G	ENST00000375964.6	-	10	1492	c.1179G>C	c.(1177-1179)cgG>cgC	p.R393R	BAG6_ENST00000439687.2_Silent_p.R387R|BAG6_ENST00000404765.2_Silent_p.R387R|BAG6_ENST00000375976.4_Silent_p.R387R|BAG6_ENST00000211379.5_Silent_p.R387R|BAG6_ENST00000470875.1_5'Flank|BAG6_ENST00000362049.6_Silent_p.R387R	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	393	4 X 29 AA approximate repeats.				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						TTGGGGGGGGCCGAGTCCCAT	0.557																																						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.(1159-1161)cgG>cgC		BCL2-associated athanogene 6							77.0	93.0	87.0					6																	31612931		1509	2707	4216	SO:0001819	synonymous_variant	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.chr6:31612931C>G	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.1179G>C	6.37:g.31612931C>G						BAG6_ENST00000439687.2_Silent_p.R387R|BAG6_ENST00000362049.6_Silent_p.R387R|BAG6_ENST00000375964.6_Silent_p.R393R|BAG6_ENST00000375976.4_Silent_p.R387R|BAG6_ENST00000211379.5_Silent_p.R387R	p.R387R			P46379	BAG6_HUMAN			10	1450	-			393			4 X 29 AA approximate repeats.		A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Silent	SNP	ENST00000375964.6	37	c.1161G>C	CCDS47403.1	.	.	.	.	.	.	.	.	.	.	C	4.577	0.107223	0.08780	.	.	ENSG00000204463	ENST00000453833	.	.	.	4.82	2.82	0.32997	.	.	.	.	.	T	0.10680	0.0261	.	.	.	0.24084	N	0.995931	.	.	.	.	.	.	T	0.24333	-1.0163	4	.	.	.	.	4.0915	0.09972	0.1802:0.579:0.1505:0.0903	.	.	.	.	P	48	.	.	A	-	1	0	BAG6	31720910	0.270000	0.24152	0.998000	0.56505	0.520000	0.34377	-0.411000	0.07142	0.947000	0.37659	0.650000	0.86243	GCC		0.557	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_080703		3	151	0	0	0	1	0	3	151				
AHNAK	79026	broad.mit.edu	37	11	62290017	62290017	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr11:62290017T>C	ENST00000378024.4	-	5	12146	c.11872A>G	c.(11872-11874)Aag>Gag	p.K3958E	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3958					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)				AGGTCAGCCTTGGGCAGGTTC	0.498																																						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.(11872-11874)Aag>Gag		AHNAK nucleoprotein							234.0	243.0	240.0					11																	62290017		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62290017T>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.11872A>G	11.37:g.62290017T>C	ENSP00000367263:p.Lys3958Glu					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.K3958E	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	12146	-		Melanoma(852;0.155)	3958					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.11872A>G	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	11.84	1.759729	0.31137	.	.	ENSG00000124942	ENST00000378024	T	0.02552	4.25	4.9	4.9	0.64082	.	0.000000	0.35466	U	0.003182	T	0.13329	0.0323	M	0.86028	2.79	0.38468	D	0.947393	D	0.58268	0.982	P	0.58013	0.831	T	0.06516	-1.0822	10	0.36615	T	0.2	-9.5935	14.185	0.65601	0.0:0.0:0.0:1.0	.	3958	Q09666	AHNK_HUMAN	E	3958	ENSP00000367263:K3958E	ENSP00000367263:K3958E	K	-	1	0	AHNAK	62046593	0.151000	0.22747	1.000000	0.80357	0.437000	0.31866	0.815000	0.27253	1.827000	0.53221	0.408000	0.27601	AAG		0.498	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		6	412	0	0	0	1	0	6	412				
DMXL2	23312	broad.mit.edu	37	15	51766595	51766595	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr15:51766595C>T	ENST00000251076.5	-	28	7443	c.7156G>A	c.(7156-7158)Gga>Aga	p.G2386R	DMXL2_ENST00000449909.3_Missense_Mutation_p.G1750R|DMXL2_ENST00000543779.2_Missense_Mutation_p.G2387R|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2386						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)		ACACCGCCTCCAAAAACAGCA	0.368																																						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.(7156-7158)Gga>Aga		Dmx-like 2							58.0	63.0	61.0					15																	51766595		2196	4293	6489	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51766595C>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.7156G>A	15.37:g.51766595C>T	ENSP00000251076:p.Gly2386Arg					DMXL2_ENST00000543779.2_Missense_Mutation_p.G2387R|DMXL2_ENST00000449909.3_Missense_Mutation_p.G1750R|RP11-707P17.1_ENST00000561007.1_RNA	p.G2386R	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	28	7443	-			2386					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.7156G>A	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	32	5.107236	0.94292	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.59906	0.3;0.3;0.23	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.78991	0.4371	M	0.81341	2.54	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;0.999;0.993	T	0.81178	-0.1051	10	0.87932	D	0	.	19.5897	0.95503	0.0:1.0:0.0:0.0	.	2387;1750;2386;2387	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	R	2386;2387;1750	ENSP00000251076:G2386R;ENSP00000441858:G2387R;ENSP00000400855:G1750R	ENSP00000251076:G2386R	G	-	1	0	DMXL2	49553887	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.487000	0.81328	2.635000	0.89317	0.655000	0.94253	GGA		0.368	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		8	87	0	0	0	1	0	8	87				
RILPL1	353116	broad.mit.edu	37	12	123983204	123983204	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr12:123983204C>T	ENST00000376874.4	-	4	923	c.688G>A	c.(688-690)Gag>Aag	p.E230K	RILPL1_ENST00000340724.6_Missense_Mutation_p.E78K	NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1	230					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)		AGGTCTGCCTCCAGCTCCACC	0.627																																						ENST00000376874.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7						c.(688-690)Gag>Aag		Rab interacting lysosomal protein-like 1							90.0	94.0	93.0					12																	123983204		2071	4214	6285	SO:0001583	missense	353116				neuroprotection	cytosol		g.chr12:123983204C>T	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.688G>A	12.37:g.123983204C>T	ENSP00000366070:p.Glu230Lys					RILPL1_ENST00000340724.6_Missense_Mutation_p.E78K	p.E230K	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	923	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		230					Q66K36|Q8N1M0	Missense_Mutation	SNP	ENST00000376874.4	37	c.688G>A	CCDS45006.1	.	.	.	.	.	.	.	.	.	.	C	36	5.788990	0.96945	.	.	ENSG00000188026	ENST00000376874;ENST00000340724	T;T	0.23147	1.92;1.92	5.23	5.23	0.72850	.	0.112995	0.64402	D	0.000018	T	0.40956	0.1138	M	0.80422	2.495	0.80722	D	1	P;P;P	0.45531	0.86;0.717;0.86	P;B;P	0.44561	0.453;0.211;0.453	T	0.46843	-0.9162	10	0.56958	D	0.05	-8.5385	19.184	0.93635	0.0:1.0:0.0:0.0	.	206;230;79	Q5EBL4-2;Q5EBL4;Q5EBL4-3	.;RIPL1_HUMAN;.	K	230;78	ENSP00000366070:E230K;ENSP00000345874:E78K	ENSP00000345874:E78K	E	-	1	0	RILPL1	122549157	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.041000	0.70988	2.614000	0.88457	0.561000	0.74099	GAG		0.627	RILPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400595.1	NM_178314		34	141	0	0	0	1	0	34	141				
TUBB4B	10383	broad.mit.edu	37	9	140137441	140137441	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr9:140137441G>C	ENST00000340384.4	+	4	919	c.771G>C	c.(769-771)atG>atC	p.M257I		NM_006088.5	NP_006079.1	P68371	TBB4B_HUMAN	tubulin, beta 4B class IVb	257					'de novo' posttranslational protein folding (GO:0051084)|cellular component movement (GO:0006928)|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)|natural killer cell mediated cytotoxicity (GO:0042267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|unfolded protein binding (GO:0051082)									Albendazole(DB00518)|Mebendazole(DB00643)	CTGTGAACATGGTCCCGTTTC	0.652																																						ENST00000340384.4																			0											c.(769-771)atG>atC		tubulin, beta 4B class IVb							32.0	33.0	32.0					9																	140137441		2202	4298	6500	SO:0001583	missense	10383				'de novo' posttranslational protein folding|cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding|structural molecule activity|unfolded protein binding	g.chr9:140137441G>C	BC019359	CCDS7039.1	9q34.3	2011-10-10	2011-10-10	2011-10-10	ENSG00000188229	ENSG00000188229		"""Tubulins"""	20771	protein-coding gene	gene with protein product	"""class IVb beta-tubulin"""	602660	"""tubulin, beta 2C"""	TUBB2C		3999141	Standard	NM_006088		Approved	Beta2	uc004cmh.1	P68371	OTTHUMG00000131783	ENST00000340384.4:c.771G>C	9.37:g.140137441G>C	ENSP00000341289:p.Met257Ile						p.M257I	NM_006088.5	NP_006079.1	P68371	TBB2C_HUMAN			4	919	+			257					A2BFA2|P05217	Missense_Mutation	SNP	ENST00000340384.4	37	c.771G>C	CCDS7039.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.630774	0.28978	.	.	ENSG00000188229	ENST00000340384	D	0.83837	-1.77	5.57	5.57	0.84162	.	0.051329	0.64402	D	0.000001	D	0.89656	0.6778	H	0.95950	3.745	0.80722	D	1	B	0.13145	0.007	B	0.22880	0.042	D	0.88420	0.3028	10	0.87932	D	0	.	18.1378	0.89627	0.0:0.0:1.0:0.0	.	257	P68371	TBB4B_HUMAN	I	257	ENSP00000341289:M257I	ENSP00000341289:M257I	M	+	3	0	TUBB2C	139257262	1.000000	0.71417	1.000000	0.80357	0.533000	0.34776	7.809000	0.86057	2.625000	0.88918	0.655000	0.94253	ATG		0.652	TUBB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254715.1	NM_006088		5	36	0	0	0	1	0	5	36				
DOCK6	57572	broad.mit.edu	37	19	11347158	11347158	+	Silent	SNP	G	G	A	rs534173253	byFrequency	TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr19:11347158G>A	ENST00000294618.7	-	20	2267	c.2256C>T	c.(2254-2256)aaC>aaT	p.N752N	DOCK6_ENST00000319867.7_Silent_p.N56N|RN7SL298P_ENST00000581369.1_RNA|C19orf80_ENST00000591200.1_5'Flank	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	752					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						CCTGCTCCACGTTGCCCTCGC	0.647													G|||	2	0.000399361	0.0	0.0	5008	,	,		18929	0.0		0.0	False		,,,				2504	0.002					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.(2254-2256)aaC>aaT		dedicator of cytokinesis 6							32.0	38.0	36.0					19																	11347158		2116	4219	6335	SO:0001819	synonymous_variant	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11347158G>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.2256C>T	19.37:g.11347158G>A						DOCK6_ENST00000319867.7_Silent_p.N56N	p.N752N	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN			20	2267	-			752			DHR-1.		A6H8X5|Q7Z7P4|Q9P2F2	Silent	SNP	ENST00000294618.7	37	c.2256C>T	CCDS45975.1																																																																																				0.647	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		3	9	0	0	0	1	0	3	9				
LOC645752	645752	broad.mit.edu	37	15	78208916	78208916	+	lincRNA	SNP	C	C	G	rs56290535	byFrequency	TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr15:78208916C>G	ENST00000565869.1	+	0	53				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							TCCAGATGTTCTCCTCCATCT	0.627													C|||	476	0.0950479	0.0998	0.1023	5008	,	,		17114	0.0675		0.1054	False		,,,				2504	0.1012					ENST00000565869.1																			0																																																			0							g.chr15:78208916C>G																													15.37:g.78208916C>G														0	53	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.627	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			3	92	0	0	0	1	0	3	92				
GRIA3	2892	broad.mit.edu	37	X	122538740	122538740	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:122538740G>A	ENST00000371251.1	+	10	1527	c.1475G>A	c.(1474-1476)gGc>gAc	p.G492D	GRIA3_ENST00000542149.1_Missense_Mutation_p.G492D|GRIA3_ENST00000264357.5_Missense_Mutation_p.G492D|GRIA3_ENST00000371256.5_Missense_Mutation_p.G492D|GRIA3_ENST00000541091.1_Missense_Mutation_p.G476D			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	492					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)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	ATATGGAACGGCATGGTTGGG	0.378																																						ENST00000264357.5																			0				breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57						c.(1474-1476)gGc>gAc		glutamate receptor, ionotropic, AMPA 3	L-Glutamic Acid(DB00142)						201.0	178.0	186.0					X																	122538740		2203	4300	6503	SO:0001583	missense	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122538740G>A	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.1475G>A	X.37:g.122538740G>A	ENSP00000360297:p.Gly492Asp					GRIA3_ENST00000371251.1_Missense_Mutation_p.G492D|GRIA3_ENST00000542149.1_Missense_Mutation_p.G492D|GRIA3_ENST00000541091.1_Missense_Mutation_p.G476D|GRIA3_ENST00000371256.5_Missense_Mutation_p.G492D	p.G492D	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN			10	1767	+			492					D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	ENST00000371251.1	37	c.1475G>A	CCDS14604.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.800993	0.90538	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251;ENST00000541091	D;D;D;D;D	0.95949	-3.86;-3.86;-3.86;-3.86;-3.86	5.53	5.53	0.82687	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	D	0.98779	0.9589	H	0.98594	4.275	0.80722	D	1	D;D;D	0.89917	0.987;1.0;1.0	D;D;D	0.91635	0.969;0.999;0.998	D	0.99683	1.0999	10	0.87932	D	0	.	17.5436	0.87855	0.0:0.0:1.0:0.0	.	476;492;492	B7Z4C0;P42263;P42263-2	.;GRIA3_HUMAN;.	D	492;492;492;492;476	ENSP00000264357:G492D;ENSP00000446146:G492D;ENSP00000360302:G492D;ENSP00000360297:G492D;ENSP00000446440:G476D	ENSP00000264357:G492D	G	+	2	0	GRIA3	122366421	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	9.813000	0.99286	2.445000	0.82738	0.594000	0.82650	GGC		0.378	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		31	242	0	0	0	1	0	31	242				
ZNF484	83744	broad.mit.edu	37	9	95610656	95610656	+	Missense_Mutation	SNP	C	C	T	rs139334933		TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr9:95610656C>T	ENST00000375495.3	-	5	561	c.413G>A	c.(412-414)cGt>cAt	p.R138H	ZNF484_ENST00000332591.6_Missense_Mutation_p.R102H|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395505.2_Missense_Mutation_p.R102H|ZNF484_ENST00000395506.3_Missense_Mutation_p.R140H	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	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)|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						GAAGACAACACGACTTAAAGG	0.368																																						ENST00000395505.2																			0				NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						c.(304-306)cGt>cAt		zinc finger protein 484		C	HIS/ARG,HIS/ARG	1,4405		0,1,2202	216.0	210.0	212.0		305,413	-3.9	0.0	9	dbSNP_134	212	1,8599		0,1,4299	no	missense,missense	ZNF484	NM_001007101.1,NM_031486.1	29,29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign	102/817,138/853	95610656	2,13004	2203	4300	6503	SO:0001583	missense	83744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:95610656C>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.413G>A	9.37:g.95610656C>T	ENSP00000364645:p.Arg138His					ZNF484_ENST00000395506.3_Missense_Mutation_p.R140H|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000375495.3_Missense_Mutation_p.R138H|ZNF484_ENST00000332591.6_Missense_Mutation_p.R102H	p.R102H	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN			3	397	-			138					B1AL89|B4DRI2	Missense_Mutation	SNP	ENST00000375495.3	37	c.305G>A	CCDS35066.1	.	.	.	.	.	.	.	.	.	.	.	0.005	-2.216339	0.00286	2.27E-4	1.16E-4	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	T;T;T;T	0.06294	3.32;3.42;3.44;3.32	2.94	-3.86	0.04230	.	.	.	.	.	T	0.02083	0.0065	N	0.01874	-0.695	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.44620	-0.9316	9	0.37606	T	0.19	.	5.4162	0.16376	0.0:0.477:0.1881:0.3349	.	140;138	B4DRI2;Q5JVG2	.;ZN484_HUMAN	H	102;140;138;102	ENSP00000378881:R102H;ENSP00000378882:R140H;ENSP00000364645:R138H;ENSP00000364646:R102H	ENSP00000364646:R102H	R	-	2	0	ZNF484	94650477	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.335000	0.07873	-0.941000	0.03700	-1.047000	0.02352	CGT		0.368	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2	XM_046861		41	60	0	0	0	1	0	41	60				
KLKB1	3818	broad.mit.edu	37	4	187173298	187173298	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr4:187173298A>G	ENST00000264690.6	+	11	1459	c.1272A>G	c.(1270-1272)atA>atG	p.I424M	KLKB1_ENST00000513864.1_Missense_Mutation_p.I424M	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	424	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)		GGTCACTCATAGGACACCAGT	0.522																																						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.(1270-1272)atA>atG		kallikrein B, plasma (Fletcher factor) 1							95.0	83.0	87.0					4																	187173298		2203	4300	6503	SO:0001583	missense	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.chr4:187173298A>G	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.1272A>G	4.37:g.187173298A>G	ENSP00000264690:p.Ile424Met					KLKB1_ENST00000513864.1_Missense_Mutation_p.I424M	p.I424M	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)	11	1459	+		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)	424			Peptidase S1.		A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Missense_Mutation	SNP	ENST00000264690.6	37	c.1272A>G	CCDS34120.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	12.41|12.41	1.928725|1.928725	0.34002|0.34002	.|.	.|.	ENSG00000164344|ENSG00000164344	ENST00000264690;ENST00000513864;ENST00000418715|ENST00000511608	D;D|.	0.96830|.	-4.14;-4.14|.	5.67|5.67	-5.23|-5.23	0.02798|0.02798	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);|.	0.073356|.	0.56097|.	D|.	0.000026|.	T|.	0.70369|.	0.3216|.	H|H	0.95079|0.95079	3.62|3.62	0.22787|0.22787	N|N	0.998735|0.998735	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;0.998;1.0|.	T|.	0.68254|.	-0.5457|.	10|.	0.87932|.	D|.	0|.	.|.	8.4909|8.4909	0.33100|0.33100	0.2161:0.5038:0.0:0.2801|0.2161:0.5038:0.0:0.2801	.|.	386;424;424|.	E7EQA8;A8K9A9;P03952|.	.;.;KLKB1_HUMAN|.	M|W	424;424;386|472	ENSP00000264690:I424M;ENSP00000424469:I424M|.	ENSP00000264690:I424M|.	I|X	+|+	3|2	3|0	KLKB1|KLKB1	187410292|187410292	0.000000|0.000000	0.05858|0.05858	0.039000|0.039000	0.18376|0.18376	0.210000|0.210000	0.24377|0.24377	-1.108000|-1.108000	0.03313|0.03313	-1.053000|-1.053000	0.03218|0.03218	-1.436000|-1.436000	0.01078|0.01078	ATA|TAG		0.522	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1	NM_000892		3	105	0	0	0	1	0	3	105				
MPEG1	219972	broad.mit.edu	37	11	58979065	58979065	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr11:58979065A>G	ENST00000361050.3	-	1	1359	c.1274T>C	c.(1273-1275)aTc>aCc	p.I425T	RN7SL42P_ENST00000579786.1_RNA	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	425						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)				CTCCTCGTGGATCTGGGATAA	0.537																																						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.(1273-1275)aTc>aCc		macrophage expressed 1							75.0	72.0	73.0					11																	58979065		1933	4148	6081	SO:0001583	missense	219972					integral to membrane		g.chr11:58979065A>G	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.1274T>C	11.37:g.58979065A>G	ENSP00000354335:p.Ile425Thr						p.I425T	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN			1	1359	-		all_epithelial(135;0.125)	425					Q2M1T6|Q8TEF8	Missense_Mutation	SNP	ENST00000361050.3	37	c.1274T>C	CCDS41650.1	.	.	.	.	.	.	.	.	.	.	A	0.063	-1.218851	0.01542	.	.	ENSG00000197629	ENST00000361050	T	0.40225	1.04	5.73	-3.95	0.04118	.	0.730141	0.13369	N	0.393022	T	0.11623	0.0283	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37549	-0.9701	10	0.08381	T	0.77	-7.5056	10.8278	0.46643	0.2331:0.0:0.6378:0.1292	.	425	Q2M385	MPEG1_HUMAN	T	425	ENSP00000354335:I425T	ENSP00000354335:I425T	I	-	2	0	MPEG1	58735641	0.293000	0.24371	0.069000	0.20011	0.001000	0.01503	-0.043000	0.12043	-0.765000	0.04645	-1.009000	0.02473	ATC		0.537	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396		3	97	0	0	0	1	0	3	97				
MPRIP	23164	broad.mit.edu	37	17	16979036	16979036	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr17:16979036T>C	ENST00000341712.4	+	2	136	c.136T>C	c.(136-138)Tat>Cat	p.Y46H	MPRIP_ENST00000444976.1_Missense_Mutation_p.Y46H|MPRIP_ENST00000395811.5_Missense_Mutation_p.Y46H|MPRIP_ENST00000395807.2_3'UTR|MPRIP-AS1_ENST00000428367.2_RNA|MPRIP_ENST00000395804.3_Missense_Mutation_p.Y46H			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	46	Interaction with F-actin. {ECO:0000250}.|PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						AAAACCCATTTATGGCGGTTG	0.547																																						ENST00000395811.5																			0				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						c.(136-138)Tat>Cat		myosin phosphatase Rho interacting protein							126.0	124.0	125.0					17																	16979036		2203	4300	6503	SO:0001583	missense	23164					cytoplasm|cytoskeleton	actin binding	g.chr17:16979036T>C	BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"""Pleckstrin homology (PH) domain containing"""	30321	protein-coding gene	gene with protein product	"""Rho interacting protein 3"""	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.136T>C	17.37:g.16979036T>C	ENSP00000342379:p.Tyr46His					MPRIP_ENST00000341712.4_Missense_Mutation_p.Y46H|MPRIP_ENST00000395807.2_3'UTR|MPRIP_ENST00000444976.1_Missense_Mutation_p.Y46H|MPRIP_ENST00000395804.3_Missense_Mutation_p.Y46H	p.Y46H	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN			2	225	+			46			Interaction with F-actin (By similarity).|PH 1.		Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Missense_Mutation	SNP	ENST00000341712.4	37	c.136T>C	CCDS32578.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.462584	0.84425	.	.	ENSG00000133030	ENST00000444976;ENST00000395807;ENST00000395811;ENST00000395804;ENST00000341712	T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91	5.38	5.38	0.77491	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.	.	.	.	T	0.81541	0.4844	L	0.45581	1.43	0.48288	D	0.999624	D;D	0.89917	1.0;0.995	D;D	0.85130	0.997;0.993	T	0.81588	-0.0864	9	0.46703	T	0.11	.	13.6487	0.62297	0.0:0.0:0.0:1.0	.	46;46	Q6WCQ1-2;Q6WCQ1	.;MPRIP_HUMAN	H	46	ENSP00000400189:Y46H;ENSP00000379156:Y46H;ENSP00000379149:Y46H;ENSP00000342379:Y46H	ENSP00000342379:Y46H	Y	+	1	0	MPRIP	16919761	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	6.621000	0.74228	2.172000	0.68678	0.533000	0.62120	TAT		0.547	MPRIP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131587.1	NM_015134		5	121	0	0	0	1	0	5	121				
ENPP3	5169	broad.mit.edu	37	6	131996232	131996232	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr6:131996232G>A	ENST00000414305.1	+	10	1103	c.775G>A	c.(775-777)Gca>Aca	p.A259T	ENPP3_ENST00000427148.2_3'UTR|ENPP3_ENST00000357639.3_Missense_Mutation_p.A259T|ENPP3_ENST00000543135.1_Missense_Mutation_p.A225T|ENPP3_ENST00000358229.5_Missense_Mutation_p.A259T			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	259	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)		GTGGCTGACAGCAATGTATCA	0.388																																						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.(775-777)Gca>Aca		ectonucleotide pyrophosphatase/phosphodiesterase 3							88.0	84.0	85.0					6																	131996232		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.chr6:131996232G>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.775G>A	6.37:g.131996232G>A	ENSP00000406261:p.Ala259Thr					ENPP3_ENST00000427148.2_3'UTR|ENPP3_ENST00000357639.3_Missense_Mutation_p.A259T|ENPP3_ENST00000543135.1_Missense_Mutation_p.A225T|ENPP3_ENST00000358229.5_Missense_Mutation_p.A259T	p.A259T			O14638	ENPP3_HUMAN		GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)	10	1103	+	Breast(56;0.0753)		259			Phosphodiesterase.		Q5JTL3	Missense_Mutation	SNP	ENST00000414305.1	37	c.775G>A	CCDS5148.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.702392	0.88924	.	.	ENSG00000154269	ENST00000414305;ENST00000357639;ENST00000543135;ENST00000358229	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	5.52	5.52	0.82312	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.64402	D	0.000004	D	0.86892	0.6042	M	0.83852	2.665	0.80722	D	1	D	0.60575	0.988	D	0.67382	0.951	D	0.87253	0.2274	10	0.52906	T	0.07	-20.5185	18.2047	0.89851	0.0:0.0:1.0:0.0	.	259	O14638	ENPP3_HUMAN	T	259;259;225;259	ENSP00000406261:A259T;ENSP00000350265:A259T;ENSP00000440810:A225T;ENSP00000350964:A259T	ENSP00000350265:A259T	A	+	1	0	ENPP3	132037925	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.696000	0.84270	2.585000	0.87301	0.442000	0.29010	GCA		0.388	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2			11	40	0	0	0	1	0	11	40				
PLXNA1	5361	broad.mit.edu	37	3	126708270	126708270	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr3:126708270C>A	ENST00000393409.2	+	1	834	c.834C>A	c.(832-834)ttC>ttA	p.F278L	PLXNA1_ENST00000251772.4_Missense_Mutation_p.F255L	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	278	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)		AGCACTTCTTCACGTCCAAGA	0.587																																						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.(763-765)ttC>ttA		plexin A1							118.0	116.0	117.0					3																	126708270		2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126708270C>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.834C>A	3.37:g.126708270C>A	ENSP00000377061:p.Phe278Leu					PLXNA1_ENST00000393409.2_Missense_Mutation_p.F278L	p.F255L			Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	1	834	+			278			Sema.			Missense_Mutation	SNP	ENST00000393409.2	37	c.765C>A	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	C	19.02	3.746883	0.69418	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.09911	2.93;2.93	4.25	3.38	0.38709	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.26484	0.0647	M	0.65677	2.01	0.50467	D	0.999877	D	0.89917	1.0	D	0.79108	0.992	T	0.00740	-1.1586	10	0.51188	T	0.08	.	8.5796	0.33621	0.0:0.8244:0.0:0.1755	.	278	Q9UIW2	PLXA1_HUMAN	L	278;255	ENSP00000377061:F278L;ENSP00000251772:F255L	ENSP00000251772:F255L	F	+	3	2	PLXNA1	128190960	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	3.853000	0.55941	1.015000	0.39444	0.491000	0.48974	TTC		0.587	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		4	185	1	0	1	1	1	4	185				
MUC16	94025	broad.mit.edu	37	19	9087885	9087885	+	Silent	SNP	A	A	G	rs374700399		TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr19:9087885A>G	ENST00000397910.4	-	1	4133	c.3930T>C	c.(3928-3930)ccT>ccC	p.P1310P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1310	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						TAGTCTCTCCAGGAGCTGTCA	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.(3928-3930)ccT>ccC		mucin 16, cell surface associated		A		2,4118		0,2,2058	129.0	126.0	127.0		3930	0.4	0.0	19		127	0,8428		0,0,4214	no	coding-synonymous	MUC16	NM_024690.2		0,2,6272	GG,GA,AA		0.0,0.0485,0.0159		1310/14508	9087885	2,12546	2060	4214	6274	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9087885A>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.3930T>C	19.37:g.9087885A>G							p.P1310P	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	4133	-			1310			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.3930T>C	CCDS54212.1																																																																																				0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	62	0	0	0	1	0	4	62				
GRAMD1A	57655	broad.mit.edu	37	19	35502409	35502409	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr19:35502409G>A	ENST00000317991.5	+	7	749	c.557G>A	c.(556-558)cGc>cAc	p.R186H	GRAMD1A_ENST00000411896.2_Missense_Mutation_p.R179H|GRAMD1A_ENST00000599564.1_Missense_Mutation_p.R273H|GRAMD1A_ENST00000504615.2_De_novo_Start_OutOfFrame	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	186						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)			GCCCGTGACCGCTGCTTCCTC	0.617																																						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							83.0	91.0	89.0					19																	35502409		1973	4132	6105	SO:0001583	missense	57655					integral to membrane		g.chr19:35502409G>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.557G>A	19.37:g.35502409G>A	ENSP00000441032:p.Arg186His					GRAMD1A_ENST00000411896.2_Missense_Mutation_p.R179H|GRAMD1A_ENST00000317991.5_Missense_Mutation_p.R186H|GRAMD1A_ENST00000599564.1_Missense_Mutation_p.R273H				Q96CP6	GRM1A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		0	713	+	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	29.7	5.030617	0.93575	.	.	ENSG00000089351	ENST00000453966;ENST00000317991;ENST00000411896	T;T	0.26957	1.7;1.72	4.51	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.44808	0.1311	L	0.52011	1.625	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.973	D;D;D;P	0.80764	0.992;0.994;0.992;0.689	T	0.40850	-0.9541	10	0.72032	D	0.01	.	14.7684	0.69657	0.0:0.0:1.0:0.0	.	186;186;179;273	Q96CP6-3;Q96CP6;Q96CP6-2;F5GZ02	.;GRM1A_HUMAN;.;.	H	273;186;179	ENSP00000441032:R186H;ENSP00000439267:R179H	ENSP00000441032:R186H	R	+	2	0	GRAMD1A	40194249	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.363000	0.97131	2.338000	0.79540	0.561000	0.74099	CGC		0.617	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461557.1	NM_020895		4	185	0	0	0	1	0	4	185				
NUMA1	4926	broad.mit.edu	37	11	71726290	71726290	+	Silent	SNP	T	T	C			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr11:71726290T>C	ENST00000393695.3	-	15	2590	c.2259A>G	c.(2257-2259)gaA>gaG	p.E753E	NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Silent_p.E753E|RP11-849H4.4_ENST00000502284.1_RNA	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						GCTCCTTTCGTTCCCGCTTAT	0.612			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.(2257-2259)gaA>gaG		nuclear mitotic apparatus protein 1							65.0	65.0	65.0					11																	71726290		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.chr11:71726290T>C	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.2259A>G	11.37:g.71726290T>C						NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Silent_p.E753E|RP11-849H4.4_ENST00000502284.1_RNA	p.E753E	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			15	2590	-			753						Silent	SNP	ENST00000393695.3	37	c.2259A>G	CCDS31633.1																																																																																				0.612	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			3	94	0	0	0	1	0	3	94				
TTN	7273	broad.mit.edu	37	2	179641277	179641277	+	Missense_Mutation	SNP	T	T	A	rs150725992	byFrequency	TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr2:179641277T>A	ENST00000591111.1	-	28	5538	c.5314A>T	c.(5314-5316)Agt>Tgt	p.S1772C	TTN_ENST00000342175.6_Missense_Mutation_p.S1726C|TTN-AS1_ENST00000585451.1_RNA|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S1726C|TTN_ENST00000460472.2_Missense_Mutation_p.S1726C|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.S1772C|TTN_ENST00000589042.1_Missense_Mutation_p.S1772C|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S1772C			Q8WZ42	TITIN_HUMAN	titin	12606	Ig-like 8.		S -> G. {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)			ATGATACCACTGTCTCTAGAA	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.(5314-5316)Agt>Tgt		titin							88.0	78.0	81.0					2																	179641277		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179641277T>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.5314A>T	2.37:g.179641277T>A	ENSP00000465570:p.Ser1772Cys					TTN_ENST00000359218.5_Missense_Mutation_p.S1726C|TTN_ENST00000342992.6_Missense_Mutation_p.S1772C|TTN_ENST00000342175.6_Missense_Mutation_p.S1726C|TTN_ENST00000591111.1_Missense_Mutation_p.S1772C|TTN_ENST00000460472.2_Missense_Mutation_p.S1726C|TTN_ENST00000360870.5_Missense_Mutation_p.S1772C	p.S1772C	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	5538	-			1525		S -> G.	Ig-like 8.		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.5314A>T		.	.	.	.	.	.	.	.	.	.	T	11.16	1.558031	0.27827	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43	4.95	4.95	0.65309	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.87533	0.6201	H	0.96662	3.86	0.38608	D	0.950822	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	0.92629	0.6114	9	0.87932	D	0	.	14.6015	0.68445	0.0:0.0:0.0:1.0	.	1726;1726;1726;1772;1772	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	C	1772;1726;1726;1726;1726;1772	ENSP00000343764:S1772C;ENSP00000434586:S1726C;ENSP00000340554:S1726C;ENSP00000352154:S1726C;ENSP00000354117:S1772C	ENSP00000340554:S1726C	S	-	1	0	TTN	179349522	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	7.915000	0.87484	1.869000	0.54173	0.459000	0.35465	AGT		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	75	0	0	0	1	0	3	75				
FUT8	2530	broad.mit.edu	37	14	66028460	66028460	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr14:66028460T>A	ENST00000360689.5	+	3	1906	c.179T>A	c.(178-180)tTg>tAg	p.L60*	FUT8_ENST00000557164.1_Intron|FUT8_ENST00000394585.1_Nonsense_Mutation_p.L60*|FUT8_ENST00000358307.2_Intron|FUT8_ENST00000394586.2_Nonsense_Mutation_p.L60*	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	60					cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|GDP-L-fucose metabolic process (GO:0046368)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|L-fucose catabolic process (GO:0042355)|N-glycan fucosylation (GO:0036071)|N-glycan processing (GO:0006491)|oligosaccharide biosynthetic process (GO:0009312)|post-translational protein modification (GO:0043687)|protein glycosylation in Golgi (GO:0033578)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|receptor metabolic process (GO:0043112)|respiratory gaseous exchange (GO:0007585)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycoprotein 6-alpha-L-fucosyltransferase activity (GO:0008424)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		AATGAAGACTTGAGGCGAATG	0.428																																						ENST00000360689.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(178-180)tTg>tAg		fucosyltransferase 8 (alpha (1,6) fucosyltransferase)							64.0	63.0	63.0					14																	66028460		2203	4299	6502	SO:0001587	stop_gained	2530				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding	g.chr14:66028460T>A	AB049740	CCDS9775.1, CCDS9776.1, CCDS9776.2	14q24.3	2013-02-26			ENSG00000033170	ENSG00000033170		"""Fucosyltransferases"""	4019	protein-coding gene	gene with protein product		602589				9368041	Standard	NM_178155		Approved		uc001xio.3	Q9BYC5	OTTHUMG00000142818	ENST00000360689.5:c.179T>A	14.37:g.66028460T>A	ENSP00000353910:p.Leu60*					FUT8_ENST00000557164.1_Intron|FUT8_ENST00000394585.1_Nonsense_Mutation_p.L60*|FUT8_ENST00000394586.2_Nonsense_Mutation_p.L60*|FUT8_ENST00000358307.2_Intron	p.L60*	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN		all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)	3	1906	+			60					B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Nonsense_Mutation	SNP	ENST00000360689.5	37	c.179T>A	CCDS9775.1	.	.	.	.	.	.	.	.	.	.	T	41	8.965259	0.99019	.	.	ENSG00000033170	ENST00000360689;ENST00000394586;ENST00000394585	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.6041	14.1824	0.65583	0.0:0.0:0.0:1.0	.	.	.	.	X	60	.	ENSP00000345865:L60X	L	+	2	0	FUT8	65098213	1.000000	0.71417	0.993000	0.49108	0.986000	0.74619	7.698000	0.84413	2.233000	0.73108	0.533000	0.62120	TTG		0.428	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286406.1	NM_004480		3	48	0	0	0	1	0	3	48				
SH3RF1	57630	broad.mit.edu	37	4	170043326	170043326	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr4:170043326G>A	ENST00000284637.9	-	7	1612	c.1271C>T	c.(1270-1272)gCt>gTt	p.A424V	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	424	Poly-Ala.				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)		TCCCATTCCAGCAGCAGCAGC	0.597																																						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.(1270-1272)gCt>gTt		SH3 domain containing ring finger 1							53.0	49.0	50.0					4																	170043326		2203	4300	6503	SO:0001583	missense	57630					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding	g.chr4:170043326G>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.1271C>T	4.37:g.170043326G>A	ENSP00000284637:p.Ala424Val					SH3RF1_ENST00000508685.1_5'UTR	p.A424V	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)	7	1612	-		Prostate(90;0.00267)|Renal(120;0.0183)	424			Poly-Ala.		Q05BT2|Q8IW46|Q9HAM2|Q9P234	Missense_Mutation	SNP	ENST00000284637.9	37	c.1271C>T	CCDS34099.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.639876	0.47153	.	.	ENSG00000154447	ENST00000284637	T	0.14766	2.48	5.26	5.26	0.73747	.	0.690550	0.14881	N	0.292952	T	0.17408	0.0418	L	0.50333	1.59	0.20489	N	0.999898	B	0.21821	0.061	B	0.23275	0.045	T	0.14254	-1.0479	10	0.23302	T	0.38	-0.8461	18.8436	0.92194	0.0:0.0:1.0:0.0	.	424	Q7Z6J0	SH3R1_HUMAN	V	424	ENSP00000284637:A424V	ENSP00000284637:A424V	A	-	2	0	SH3RF1	170279901	0.031000	0.19500	0.331000	0.25455	0.684000	0.39900	0.820000	0.27323	2.441000	0.82636	0.484000	0.47621	GCT		0.597	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363382.3	NM_020870		4	49	0	0	0	1	0	4	49				
DLG3	1741	broad.mit.edu	37	X	69717042	69717042	+	Intron	SNP	C	C	G			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:69717042C>G	ENST00000374360.3	+	14	2052				DLG3_ENST00000374355.3_Missense_Mutation_p.S292C|DLG3_ENST00000542398.1_Missense_Mutation_p.S146C|DLG3_ENST00000194900.4_Missense_Mutation_p.S629C|DLG3_ENST00000461646.1_3'UTR	NM_021120.3	NP_066943.2	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)						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)	p.S292C(1)		endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					GGAGTGACATCCAACACCAGT	0.498																																						ENST00000194900.4																			1	Substitution - Missense(1)	p.S292C(1)	endometrium(1)	endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22						c.(1885-1887)tCc>tGc		discs, large homolog 3 (Drosophila)							175.0	171.0	172.0					X																	69717042		2135	4237	6372	SO:0001627	intron_variant	1741				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity	g.chrX:69717042C>G	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.1820-1328C>G	X.37:g.69717042C>G						DLG3_ENST00000374355.3_Missense_Mutation_p.S292C|DLG3_ENST00000374360.3_Intron|DLG3_ENST00000461646.1_3'UTR|DLG3_ENST00000542398.1_Missense_Mutation_p.S146C	p.S629C			Q92796	DLG3_HUMAN			15	2227	+	Renal(35;0.156)		606			Guanylate kinase-like.		B4E0H1|D3DVU5|Q5JUW6|Q5JUW7|Q9ULI8	Missense_Mutation	SNP	ENST00000374360.3	37	c.1886C>G	CCDS14403.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.055883	0.76074	.	.	ENSG00000082458	ENST00000194900;ENST00000374355;ENST00000542398	T;T;T	0.17528	2.58;2.27;3.01	5.18	5.18	0.71444	.	0.000000	0.64402	U	0.000001	T	0.42899	0.1223	.	.	.	0.80722	D	1	D;B	0.76494	0.999;0.022	D;B	0.77557	0.99;0.021	T	0.27088	-1.0084	8	.	.	.	.	16.6183	0.84922	0.0:1.0:0.0:0.0	.	146;292	B4E0H1;Q5JUW6	.;.	C	629;292;146	ENSP00000194900:S629C;ENSP00000363475:S292C;ENSP00000441393:S146C	.	S	+	2	0	DLG3	69633767	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.601000	0.67606	2.387000	0.81309	0.594000	0.82650	TCC		0.498	DLG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057074.2	NM_021120		4	111	0	0	0	1	0	4	111				
ATR	545	broad.mit.edu	37	3	142224106	142224106	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr3:142224106C>T	ENST00000350721.4	-	29	5192	c.5071G>A	c.(5071-5073)Gga>Aga	p.G1691R	ATR_ENST00000383101.3_Missense_Mutation_p.G1627R	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1691	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						GCACTGACTCCGGCCACTCCA	0.388								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.(5071-5073)Gga>Aga	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							198.0	198.0	198.0					3																	142224106		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.chr3:142224106C>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.5071G>A	3.37:g.142224106C>T	ENSP00000343741:p.Gly1691Arg					ATR_ENST00000383101.3_Missense_Mutation_p.G1627R	p.G1691R	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			29	5192	-			1691			FAT.		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.5071G>A	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.010810	0.93346	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.59364	0.27;0.27	5.54	5.54	0.83059	PIK-related kinase (1);Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.81240	0.4781	M	0.89478	3.035	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84504	0.0618	10	0.87932	D	0	-21.6109	19.4874	0.95035	0.0:1.0:0.0:0.0	.	1691	Q13535	ATR_HUMAN	R	1691;1627	ENSP00000343741:G1691R;ENSP00000372581:G1627R	ENSP00000343741:G1691R	G	-	1	0	ATR	143706796	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.818000	0.86416	2.586000	0.87340	0.655000	0.94253	GGA		0.388	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		29	229	0	0	0	1	0	29	229				
HSD17B4	3295	broad.mit.edu	37	5	118829578	118829578	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr5:118829578G>C	ENST00000256216.6	+	11	938	c.805G>C	c.(805-807)Gtc>Ctc	p.V269L	HSD17B4_ENST00000515320.1_Missense_Mutation_p.V251L|HSD17B4_ENST00000504811.1_Missense_Mutation_p.V294L|HSD17B4_ENST00000510025.1_Missense_Mutation_p.V245L|HSD17B4_ENST00000513628.1_Missense_Mutation_p.V132L|HSD17B4_ENST00000414835.2_Missense_Mutation_p.V129L|HSD17B4_ENST00000509514.1_5'UTR	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	269	(3R)-hydroxyacyl-CoA dehydrogenase.				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)		TCCTGAGGCAGTCAAGGCTAA	0.473																																					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.(880-882)Gtc>Ctc		hydroxysteroid (17-beta) dehydrogenase 4	NADH(DB00157)						88.0	86.0	87.0					5																	118829578		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.chr5:118829578G>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.805G>C	5.37:g.118829578G>C	ENSP00000256216:p.Val269Leu					HSD17B4_ENST00000509514.1_5'UTR|HSD17B4_ENST00000414835.2_Missense_Mutation_p.V129L|HSD17B4_ENST00000510025.1_Missense_Mutation_p.V245L|HSD17B4_ENST00000515320.1_Missense_Mutation_p.V251L|HSD17B4_ENST00000513628.1_Missense_Mutation_p.V132L|HSD17B4_ENST00000256216.6_Missense_Mutation_p.V269L	p.V294L	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)	12	1064	+		all_cancers(142;0.0206)|Prostate(80;0.0322)	269			(3R)-hydroxyacyl-CoA dehydrogenase.		B4DNV1|B4DVS5|E9PB82|F5HE57	Missense_Mutation	SNP	ENST00000256216.6	37	c.880G>C	CCDS4126.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.177301	0.78564	.	.	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811;ENST00000414835;ENST00000513628	D;D;D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4;-2.4;-2.4	5.38	5.38	0.77491	.	0.056465	0.64402	D	0.000001	D	0.88463	0.6443	M	0.75150	2.29	0.80722	D	1	B;B;B;B	0.31054	0.101;0.082;0.042;0.306	B;B;B;B	0.24394	0.051;0.018;0.023;0.053	D	0.87438	0.2393	10	0.49607	T	0.09	-15.8602	17.9051	0.88916	0.0:0.0:1.0:0.0	.	294;251;245;269	F5HE57;E9PB82;E7EWE5;P51659	.;.;.;DHB4_HUMAN	L	269;251;245;294;129;132	ENSP00000256216:V269L;ENSP00000424613:V251L;ENSP00000424940:V245L;ENSP00000420914:V294L;ENSP00000411960:V129L;ENSP00000425993:V132L	ENSP00000256216:V269L	V	+	1	0	HSD17B4	118857477	1.000000	0.71417	0.995000	0.50966	0.984000	0.73092	7.536000	0.82023	2.506000	0.84524	0.563000	0.77884	GTC		0.473	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250863.3	NM_000414		5	62	0	0	0	1	0	5	62				
SRCAP	10847	broad.mit.edu	37	16	30734516	30734516	+	Silent	SNP	C	C	G			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr16:30734516C>G	ENST00000262518.4	+	24	4510	c.4125C>G	c.(4123-4125)ctC>ctG	p.L1375L	SRCAP_ENST00000395059.2_Silent_p.L1313L|SRCAP_ENST00000344771.4_Silent_p.L1217L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1375	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)	p.L1375L(1)		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)			GGCCTCTTCTCAAGCTGGTCC	0.602																																						ENST00000262518.4																			1	Substitution - coding silent(1)	p.L1375L(1)	kidney(1)	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.(4123-4125)ctC>ctG		Snf2-related CREBBP activator protein							91.0	85.0	87.0					16																	30734516		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.chr16:30734516C>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.4125C>G	16.37:g.30734516C>G						SRCAP_ENST00000395059.2_Silent_p.L1313L|SRCAP_ENST00000344771.4_Silent_p.L1217L	p.L1375L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		24	4510	+			1375			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	ENST00000262518.4	37	c.4125C>G	CCDS10689.2																																																																																				0.602	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		70	164	0	0	0	1	0	70	164				
SFRP4	6424	broad.mit.edu	37	7	37955897	37955897	+	Silent	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr7:37955897G>A	ENST00000436072.2	-	1	620	c.243C>T	c.(241-243)taC>taT	p.Y81Y	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	81	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						AAATGGGCGCGTACATGGCAC	0.622																																						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.(241-243)taC>taT		secreted frizzled-related protein 4							121.0	97.0	105.0					7																	37955897		2203	4300	6503	SO:0001819	synonymous_variant	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.chr7:37955897G>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.243C>T	7.37:g.37955897G>A						EPDR1_ENST00000476620.1_Intron	p.Y81Y	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN			1	620	-			81			FZ.		B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Silent	SNP	ENST00000436072.2	37	c.243C>T	CCDS5453.1																																																																																				0.622	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220017.2	NM_003014		3	53	0	0	0	1	0	3	53				
SEL1L2	80343	broad.mit.edu	37	20	13912352	13912352	+	Silent	SNP	T	T	G			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr20:13912352T>G	ENST00000284951.5	-	3	254	c.180A>C	c.(178-180)gtA>gtC	p.V60V	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Silent_p.V60V			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	60						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						TTTTATTGATTACATTACTAG	0.274																																						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.(178-180)gtA>gtC		sel-1 suppressor of lin-12-like 2 (C. elegans)							75.0	69.0	70.0					20																	13912352		1785	4047	5832	SO:0001819	synonymous_variant	80343					integral to membrane	binding	g.chr20:13912352T>G	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.180A>C	20.37:g.13912352T>G						SEL1L2_ENST00000378072.5_Silent_p.V60V|SEL1L2_ENST00000486903.1_5'UTR	p.V60V			Q5TEA6	SE1L2_HUMAN			3	254	-			60					B4DXX5	Silent	SNP	ENST00000284951.5	37	c.180A>C																																																																																					0.274	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		3	34	0	0	0	1	0	3	34				
SLC17A5	26503	broad.mit.edu	37	6	74354177	74354177	+	Missense_Mutation	SNP	C	C	A	rs199727701		TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr6:74354177C>A	ENST00000355773.5	-	2	512	c.244G>T	c.(244-246)Gcg>Tcg	p.A82S	SLC17A5_ENST00000481996.1_5'UTR|SLC17A5_ENST00000393019.3_Missense_Mutation_p.A82S	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	82					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						TCTGGACACGCCTTGGAAGTT	0.348																																						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.(244-246)Gcg>Tcg		solute carrier family 17 (acidic sugar transporter), member 5							75.0	73.0	74.0					6																	74354177		2203	4300	6503	SO:0001583	missense	26503				anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity	g.chr6:74354177C>A	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.244G>T	6.37:g.74354177C>A	ENSP00000348019:p.Ala82Ser					SLC17A5_ENST00000481996.1_5'UTR|SLC17A5_ENST00000393019.3_Missense_Mutation_p.A82S	p.A82S	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN			2	512	-			82					Q5SZ76|Q8NBR5|Q9UGH0	Missense_Mutation	SNP	ENST00000355773.5	37	c.244G>T	CCDS4981.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.403341	0.42613	.	.	ENSG00000119899	ENST00000355773;ENST00000393019	T;T	0.81078	-0.22;-1.45	5.61	5.61	0.85477	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.367176	0.27991	N	0.017039	T	0.33089	0.0851	N	0.01515	-0.825	0.09310	N	1	B	0.12630	0.006	B	0.15052	0.012	T	0.09400	-1.0676	10	0.09590	T	0.72	.	12.0062	0.53261	0.0:0.9214:0.0:0.0785	.	82	Q9NRA2	S17A5_HUMAN	S	82	ENSP00000348019:A82S;ENSP00000376742:A82S	ENSP00000348019:A82S	A	-	1	0	SLC17A5	74410898	0.256000	0.24012	0.780000	0.31762	0.700000	0.40528	2.143000	0.42187	2.625000	0.88918	0.591000	0.81541	GCG		0.348	SLC17A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041228.1			10	35	1	0	2.27111e-07	1	2.37318e-07	10	35				
SPTLC3	55304	broad.mit.edu	37	20	13134724	13134724	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr20:13134724A>G	ENST00000399002.2	+	10	1628	c.1354A>G	c.(1354-1356)Atc>Gtc	p.I452V	SPTLC3_ENST00000378194.4_3'UTR	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	452					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						GGGATTCATTATCTATGGCAA	0.428																																						ENST00000399002.2																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						c.(1354-1356)Atc>Gtc		serine palmitoyltransferase, long chain base subunit 3	Pyridoxal Phosphate(DB00114)						170.0	161.0	164.0					20																	13134724		1934	4138	6072	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.chr20:13134724A>G	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.1354A>G	20.37:g.13134724A>G	ENSP00000381968:p.Ile452Val					SPTLC3_ENST00000378194.4_3'UTR	p.I452V	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN			10	1628	+			452					A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0	Missense_Mutation	SNP	ENST00000399002.2	37	c.1354A>G	CCDS13115.2	.	.	.	.	.	.	.	.	.	.	A	3.611	-0.079654	0.07141	.	.	ENSG00000172296	ENST00000399002	D	0.88586	-2.4	5.91	1.16	0.20824	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.194767	0.53938	N	0.000041	T	0.74336	0.3703	N	0.17345	0.48	0.80722	D	1	B	0.13594	0.008	B	0.17722	0.019	T	0.61412	-0.7068	10	0.02654	T	1	-4.7363	9.1142	0.36746	0.7036:0.0:0.2964:0.0	.	452	Q9NUV7	SPTC3_HUMAN	V	452	ENSP00000381968:I452V	ENSP00000381968:I452V	I	+	1	0	SPTLC3	13082724	1.000000	0.71417	0.994000	0.49952	0.877000	0.50540	1.839000	0.39220	-0.062000	0.13088	0.454000	0.30748	ATC		0.428	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254544.1	NM_018327		7	54	0	0	0	1	0	7	54				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		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)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		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)		ATAAGCATGACGACCTATGAT	0.393			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		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	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.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		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.chr2:209113112C>T		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.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			30	72	0	0	0	1	0	30	72				
ANKRD11	29123	broad.mit.edu	37	16	89351844	89351844	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr16:89351844T>C	ENST00000301030.4	-	9	1566	c.1106A>G	c.(1105-1107)aAg>aGg	p.K369R	ANKRD11_ENST00000378330.2_Missense_Mutation_p.K369R	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	369					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)		TCTGTAGTCCTTTTTCAATAG	0.453																																						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.(1105-1107)aAg>aGg		ankyrin repeat domain 11							158.0	162.0	160.0					16																	89351844		2198	4300	6498	SO:0001583	missense	29123					nucleus		g.chr16:89351844T>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.1106A>G	16.37:g.89351844T>C	ENSP00000301030:p.Lys369Arg					ANKRD11_ENST00000378330.2_Missense_Mutation_p.K369R	p.K369R	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	1566	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	369					Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.1106A>G	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	T	16.40	3.112102	0.56398	.	.	ENSG00000167522	ENST00000301030;ENST00000378330;ENST00000378332	T;T	0.46063	0.88;0.88	5.4	5.4	0.78164	.	0.046390	0.85682	N	0.000000	T	0.63189	0.2490	M	0.71581	2.175	0.80722	D	1	D	0.59767	0.986	D	0.69654	0.965	T	0.66666	-0.5866	10	0.62326	D	0.03	.	15.4164	0.74974	0.0:0.0:0.0:1.0	.	369	Q6UB99	ANR11_HUMAN	R	369;369;383	ENSP00000301030:K369R;ENSP00000367581:K369R	ENSP00000301030:K369R	K	-	2	0	ANKRD11	87879345	1.000000	0.71417	1.000000	0.80357	0.288000	0.27193	7.836000	0.86788	2.052000	0.61016	0.460000	0.39030	AAG		0.453	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		3	141	0	0	0	1	0	3	141				
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584	A-domain.				carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(ADP-ribose) glycohydrolase activity (GO:0004649)	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318																																						ENST00000402038.3																			1	Substitution - Missense(1)	p.A584T(1)	kidney(1)	endometrium(5)|kidney(2)|lung(1)|ovary(2)	10						c.(295-297)Gca>Aca		poly (ADP-ribose) glycohydrolase							235.0	183.0	198.0					10																	51093329		692	1589	2281	SO:0001583	missense	8505				carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	g.chr10:51093329C>T	AF005043	CCDS73130.1	10q11.23	2012-04-20			ENSG00000227345	ENSG00000227345	3.2.1.143		8605	protein-coding gene	gene with protein product		603501				9115250, 10449915	Standard	NM_003631		Approved		uc001jif.3	Q86W56	OTTHUMG00000018201	ENST00000402038.3:c.295G>A	10.37:g.51093329C>T	ENSP00000384408:p.Ala99Thr						p.A99T	NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN		Epithelial(53;0.213)	4	294	-			584					A5YBK3|B2RC24|B4DIU5|B4DYR4|I6RUV3|Q6E4P6|Q6E4P7|Q7Z742|Q9Y4W7	Missense_Mutation	SNP	ENST00000402038.3	37	c.295G>A		.	.	.	.	.	.	.	.	.	.	C	12.89	2.073258	0.36566	.	.	ENSG00000227345	ENST00000402038	.	.	.	3.88	2.96	0.34315	.	.	.	.	.	T	0.46678	0.1405	M	0.61703	1.905	.	.	.	B;B;P;P;P;B	0.41947	0.002;0.003;0.574;0.766;0.766;0.006	B;B;B;B;B;B	0.38616	0.006;0.006;0.191;0.179;0.277;0.01	T	0.56631	-0.7947	7	0.18710	T	0.47	-4.0352	11.9338	0.52862	0.0:0.9123:0.0:0.0877	.	502;584;135;99;124;584	Q86W56-2;Q86W56;A5YBK3;Q5SQP4;B4DX76;Q0MQR4	.;PARG_HUMAN;.;.;.;.	T	99	.	ENSP00000384408:A99T	A	-	1	0	PARG	50763335	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.907000	0.39897	0.952000	0.37798	0.407000	0.27541	GCA		0.318	PARG-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048011.2	NM_003631		3	62	0	0	0	1	0	3	62				
TBP	6908	broad.mit.edu	37	6	170871043	170871043	+	Silent	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr6:170871043G>A	ENST00000392092.2	+	3	498	c.219G>A	c.(217-219)caG>caA	p.Q73Q	TBP_ENST00000540980.1_Silent_p.Q53Q|TBP_ENST00000230354.6_Silent_p.Q73Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	73	Poly-Gln.				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)	p.Q73Q(1)		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)		agcagcaacagcaacagcagc	0.562																																						ENST00000392092.2																			1	Substitution - coding silent(1)	p.Q73Q(1)	endometrium(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(217-219)caG>caA		TATA box binding protein							17.0	21.0	20.0					6																	170871043		1987	3877	5864	SO:0001819	synonymous_variant	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.chr6:170871043G>A	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.219G>A	6.37:g.170871043G>A						TBP_ENST00000540980.1_Silent_p.Q53Q|TBP_ENST00000230354.6_Silent_p.Q73Q	p.Q73Q	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)	3	498	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	73			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.219G>A	CCDS5315.1																																																																																				0.562	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		3	17	0	0	0	1	0	3	17				
MCTS1	28985	broad.mit.edu	37	X	119739938	119739938	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:119739938G>A	ENST00000371317.5	+	3	426	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	MCTS1_ENST00000371315.3_Missense_Mutation_p.E58K|MCTS1_ENST00000487133.1_3'UTR	NM_014060.2	NP_054779.1	Q9ULC4	MCTS1_HUMAN	malignant T cell amplified sequence 1	57					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|formation of translation preinitiation complex (GO:0001731)|IRES-dependent translational initiation (GO:0002192)|positive regulation of cell proliferation (GO:0008284)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|ribosome disassembly (GO:0032790)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	translation initiation factor activity (GO:0003743)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|stomach(1)|urinary_tract(1)	10						TTACAGCCATGAACATATAGA	0.299																																						ENST00000371315.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|stomach(1)|urinary_tract(1)	10						c.(172-174)Gaa>Aaa		malignant T cell amplified sequence 1							45.0	42.0	43.0					X																	119739938		2200	4285	6485	SO:0001583	missense	28985				cell cycle|positive regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm	RNA binding	g.chrX:119739938G>A	AB034206	CCDS14601.1, CCDS48160.1	Xq24	2008-05-14			ENSG00000232119	ENSG00000232119			23357	protein-coding gene	gene with protein product		300587				9766643	Standard	NM_014060		Approved	MCT-1	uc011mub.2	Q9ULC4	OTTHUMG00000022303	ENST00000371317.5:c.169G>A	X.37:g.119739938G>A	ENSP00000360367:p.Glu57Lys					MCTS1_ENST00000371317.5_Missense_Mutation_p.E57K|MCTS1_ENST00000487133.1_3'UTR	p.E58K	NM_001137554.1	NP_001131026.1	Q9ULC4	MCTS1_HUMAN			3	705	+			57					B4DGY2|Q502X6	Missense_Mutation	SNP	ENST00000371317.5	37	c.172G>A	CCDS14601.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005321	0.74932	.	.	ENSG00000232119	ENST00000371317;ENST00000371315	T;T	0.45276	0.9;0.9	5.41	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.43277	0.1240	M	0.73962	2.25	0.80722	D	1	B;B	0.32031	0.352;0.158	B;B	0.31751	0.135;0.064	T	0.40079	-0.9582	9	.	.	.	-29.4474	12.7119	0.57094	0.0827:0.0:0.9173:0.0	.	58;57	Q9ULC4-3;Q9ULC4	.;MCTS1_HUMAN	K	57;58	ENSP00000360367:E57K;ENSP00000360365:E58K	.	E	+	1	0	MCTS1	119623966	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.830000	0.86741	2.264000	0.75181	0.600000	0.82982	GAA		0.299	MCTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058110.1	NM_014060		4	50	0	0	0	1	0	4	50				
NRAP	4892	broad.mit.edu	37	10	115380449	115380449	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr10:115380449C>T	ENST00000359988.3	-	25	3032	c.2788G>A	c.(2788-2790)Gtg>Atg	p.V930M	NRAP_ENST00000369360.3_Missense_Mutation_p.V903M|NRAP_ENST00000369358.4_Missense_Mutation_p.V938M|NRAP_ENST00000360478.3_Missense_Mutation_p.V895M	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)		ATCCACTTCACATCTGCCCTG	0.478																																						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.(2812-2814)Gtg>Atg		nebulin-related anchoring protein							136.0	126.0	129.0					10																	115380449		2203	4300	6503	SO:0001583	missense	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115380449C>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.2788G>A	10.37:g.115380449C>T	ENSP00000353078:p.Val930Met					NRAP_ENST00000360478.3_Missense_Mutation_p.V895M|NRAP_ENST00000369360.3_Missense_Mutation_p.V903M|NRAP_ENST00000359988.3_Missense_Mutation_p.V930M	p.V938M			Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	25	3056	-		Colorectal(252;0.0233)|Breast(234;0.188)	930						Missense_Mutation	SNP	ENST00000359988.3	37	c.2812G>A	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.943704	0.34283	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	6.17	3.77	0.43336	.	0.190896	0.47455	N	0.000239	T	0.10465	0.0256	N	0.02539	-0.55	0.28533	N	0.912489	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.19391	0.011;0.025;0.011	T	0.07481	-1.0770	10	0.35671	T	0.21	.	2.1481	0.03792	0.281:0.4704:0.1169:0.1316	.	930;895;930	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	M	938;903;930;895	ENSP00000358365:V938M;ENSP00000358367:V903M;ENSP00000353078:V930M;ENSP00000353666:V895M	ENSP00000353078:V930M	V	-	1	0	NRAP	115370439	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.241000	0.43097	1.277000	0.44412	0.655000	0.94253	GTG		0.478	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		28	165	0	0	0	1	0	28	165				
PROKR1	10887	broad.mit.edu	37	2	68873428	68873428	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr2:68873428G>A	ENST00000303786.3	+	2	895	c.475G>A	c.(475-477)Gcc>Acc	p.A159T	PROKR1_ENST00000394342.2_Missense_Mutation_p.A159T			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	159					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						GCTGGCCATCGCCATTGACAG	0.592																																						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.(475-477)Gcc>Acc		prokineticin receptor 1							66.0	62.0	63.0					2																	68873428		2203	4300	6503	SO:0001583	missense	10887					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr2:68873428G>A	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.475G>A	2.37:g.68873428G>A	ENSP00000303775:p.Ala159Thr					PROKR1_ENST00000394342.2_Missense_Mutation_p.A159T	p.A159T			Q8TCW9	PKR1_HUMAN			2	895	+			159					A5JUU2|Q53QT9|Q8NFJ7	Missense_Mutation	SNP	ENST00000303786.3	37	c.475G>A	CCDS1889.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.665439	0.88251	.	.	ENSG00000169618	ENST00000303786;ENST00000394342	T;T	0.76186	-1.0;-1.0	5.06	5.06	0.68205	GPCR, rhodopsin-like superfamily (1);	0.142971	0.64402	D	0.000006	D	0.83390	0.5244	L	0.58302	1.8	0.80722	D	1	D	0.71674	0.998	D	0.70227	0.968	D	0.84252	0.0478	10	0.66056	D	0.02	.	16.3321	0.83039	0.0:0.0:1.0:0.0	.	159	Q8TCW9	PKR1_HUMAN	T	159	ENSP00000303775:A159T;ENSP00000377874:A159T	ENSP00000303775:A159T	A	+	1	0	PROKR1	68726932	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	7.559000	0.82265	2.814000	0.96858	0.650000	0.86243	GCC		0.592	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251760.2			20	95	0	0	0	1	0	20	95				
NEURL1	9148	broad.mit.edu	37	10	105349295	105349295	+	Missense_Mutation	SNP	G	G	A	rs551936679	byFrequency	TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr10:105349295G>A	ENST00000369780.4	+	5	1773	c.1364G>A	c.(1363-1365)gGt>gAt	p.G455D	NEURL_ENST00000369777.2_Missense_Mutation_p.G438D|SH3PXD2A_ENST00000427662.2_Intron	NM_004210.4	NP_004201.3	O76050	NEUL1_HUMAN		455					brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|lactation (GO:0007595)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Notch signaling pathway (GO:0045746)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse maturation (GO:0090129)|protein monoubiquitination (GO:0006513)|skeletal muscle tissue development (GO:0007519)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|translation factor activity, non-nucleic acid binding (GO:0045183)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		GCCGAGCGGGGTATCCCATCA	0.652																																						ENST00000369780.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1363-1365)gGt>gAt									56.0	58.0	58.0					10																	105349295		2203	4300	6503	SO:0001583	missense	0				nervous system development	perinuclear region of cytoplasm	zinc ion binding	g.chr10:105349295G>A																												ENST00000369780.4:c.1364G>A	10.37:g.105349295G>A	ENSP00000358795:p.Gly455Asp					NEURL_ENST00000369777.2_Missense_Mutation_p.G438D|SH3PXD2A_ENST00000427662.2_Intron	p.G455D	NM_004210.4	NP_004201.3	O76050	NEU1A_HUMAN		Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)	5	1773	+			455					Q5TDR2|Q5TDR3|Q8TAN0|Q9H463	Missense_Mutation	SNP	ENST00000369780.4	37	c.1364G>A	CCDS7551.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.746897	0.30955	.	.	ENSG00000107954	ENST00000369780;ENST00000369777	.	.	.	4.94	2.98	0.34508	.	0.443061	0.25146	N	0.032791	T	0.38054	0.1026	L	0.36672	1.1	0.80722	D	1	P	0.42827	0.791	B	0.37650	0.255	T	0.06752	-1.0809	9	0.32370	T	0.25	-29.2316	9.2489	0.37543	0.0:0.2431:0.5639:0.193	.	455	O76050	NEU1A_HUMAN	D	455;438	.	ENSP00000358792:G438D	G	+	2	0	NEURL	105339285	1.000000	0.71417	0.995000	0.50966	0.746000	0.42486	2.908000	0.48750	0.442000	0.26555	0.561000	0.74099	GGT		0.652	NEURL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050170.1			11	112	0	0	0	1	0	11	112				
KIF21A	55605	broad.mit.edu	37	12	39761740	39761740	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr12:39761740G>C	ENST00000361418.5	-	4	560	c.545C>G	c.(544-546)aCt>aGt	p.T182S	KIF21A_ENST00000395670.3_Missense_Mutation_p.T182S|KIF21A_ENST00000541463.2_Missense_Mutation_p.T182S|KIF21A_ENST00000361961.3_Missense_Mutation_p.T182S|KIF21A_ENST00000544797.2_Missense_Mutation_p.T182S			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	182	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)			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)				AATTCCTCCAGTTGAATCTTC	0.313																																						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.(544-546)aCt>aGt		kinesin family member 21A							98.0	111.0	107.0					12																	39761740		2202	4293	6495	SO:0001583	missense	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39761740G>C	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.545C>G	12.37:g.39761740G>C	ENSP00000354878:p.Thr182Ser					KIF21A_ENST00000544797.2_Missense_Mutation_p.T182S|KIF21A_ENST00000361418.5_Missense_Mutation_p.T182S|KIF21A_ENST00000361961.3_Missense_Mutation_p.T182S|KIF21A_ENST00000541463.2_Missense_Mutation_p.T182S	p.T182S			Q7Z4S6	KI21A_HUMAN			4	964	-		Lung NSC(34;0.179)|all_lung(34;0.213)	182			Kinesin-motor.		A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	c.545C>G	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	G	3.782	-0.045447	0.07452	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463	T;T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83;-0.83	5.8	5.8	0.92144	Kinesin, motor domain (4);	0.236117	0.29616	N	0.011645	T	0.55609	0.1931	N	0.05158	-0.105	0.24364	N	0.994864	B;B;B;B;B	0.28128	0.002;0.201;0.001;0.002;0.005	B;B;B;B;B	0.31442	0.012;0.13;0.012;0.005;0.001	T	0.31530	-0.9940	10	0.02654	T	1	.	20.0589	0.97667	0.0:0.0:1.0:0.0	.	182;182;182;182;182	F5H219;B9EGE4;F5H0C3;Q7Z4S6;Q7Z4S6-2	.;.;.;KI21A_HUMAN;.	S	182	ENSP00000354851:T182S;ENSP00000379029:T182S;ENSP00000445606:T182S;ENSP00000354878:T182S;ENSP00000438075:T182S	ENSP00000344501:T182S	T	-	2	0	KIF21A	38048007	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.657000	0.54474	2.732000	0.93576	0.650000	0.86243	ACT		0.313	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		17	171	0	0	0	1	0	17	171				
JAG1	182	broad.mit.edu	37	20	10624439	10624439	+	Silent	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr20:10624439G>A	ENST00000254958.5	-	20	2960	c.2445C>T	c.(2443-2445)ccC>ccT	p.P815P	JAG1_ENST00000423891.2_Silent_p.P656P|JAG1_ENST00000488480.1_RNA	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	815	EGF-like 15; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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						TTCTGCAGTCGGGCCCAGCAA	0.498									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.(2443-2445)ccC>ccT		jagged 1							69.0	55.0	60.0					20																	10624439		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.chr20:10624439G>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.2445C>T	20.37:g.10624439G>A						JAG1_ENST00000423891.2_Silent_p.P656P	p.P815P	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN			20	2960	-			815			EGF-like 15; calcium-binding (Potential).		A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Silent	SNP	ENST00000254958.5	37	c.2445C>T	CCDS13112.1																																																																																				0.498	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		19	39	0	0	0	1	0	19	39				
ANK1	286	broad.mit.edu	37	8	41552258	41552258	+	Missense_Mutation	SNP	G	G	A	rs267601925		TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr8:41552258G>A	ENST00000347528.4	-	28	3262	c.3179C>T	c.(3178-3180)cCg>cTg	p.P1060L	ANK1_ENST00000352337.4_Missense_Mutation_p.P1060L|ANK1_ENST00000396945.1_Missense_Mutation_p.P1060L|ANK1_ENST00000379758.2_Missense_Mutation_p.P1060L|ANK1_ENST00000289734.7_Missense_Mutation_p.P1060L|ANK1_ENST00000396942.1_Missense_Mutation_p.P1060L|ANK1_ENST00000265709.8_Missense_Mutation_p.P1101L	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1060	ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				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)			GAAGTACAGCGGGAAGTCGGT	0.602																																						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.(3178-3180)cCg>cTg		ankyrin 1, erythrocytic							181.0	146.0	158.0					8																	41552258		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.chr8:41552258G>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.3179C>T	8.37:g.41552258G>A	ENSP00000339620:p.Pro1060Leu					ANK1_ENST00000352337.4_Missense_Mutation_p.P1060L|ANK1_ENST00000396945.1_Missense_Mutation_p.P1060L|ANK1_ENST00000379758.2_Missense_Mutation_p.P1060L|ANK1_ENST00000289734.7_Missense_Mutation_p.P1060L|ANK1_ENST00000265709.8_Missense_Mutation_p.P1101L|ANK1_ENST00000347528.4_Missense_Mutation_p.P1060L	p.P1060L			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)		28	3262	-	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)	1060					A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.3179C>T	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647346	0.87958	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.71579	-0.55;-0.54;-0.52;-0.51;-0.52;-0.5;-0.58	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.84924	0.5580	M	0.79258	2.445	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	0.86873	0.2037	10	0.87932	D	0	.	18.7799	0.91928	0.0:0.0:1.0:0.0	.	1101;1060;1060;1060;1060;376	P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39	.;.;ANK1_HUMAN;.;.;.	L	1060;1060;1060;1060;1060;1060;1101;1060	ENSP00000339620:P1060L;ENSP00000289734:P1060L;ENSP00000369082:P1060L;ENSP00000380149:P1060L;ENSP00000380147:P1060L;ENSP00000309131:P1060L;ENSP00000265709:P1101L	ENSP00000265709:P1101L	P	-	2	0	ANK1	41671415	1.000000	0.71417	0.996000	0.52242	0.588000	0.36517	9.813000	0.99286	2.495000	0.84180	0.462000	0.41574	CCG		0.602	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		12	66	0	0	0	1	0	12	66				
SRCAP	10847	broad.mit.edu	37	16	30732740	30732740	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr16:30732740C>G	ENST00000262518.4	+	21	3869	c.3484C>G	c.(3484-3486)Ccg>Gcg	p.P1162A	SRCAP_ENST00000395059.2_Missense_Mutation_p.P1162A|SRCAP_ENST00000344771.4_Intron	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1162	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)			AGTGCCAGCTCCGACTCCTGC	0.612																																						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.(3484-3486)Ccg>Gcg		Snf2-related CREBBP activator protein							96.0	82.0	87.0					16																	30732740		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.chr16:30732740C>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.3484C>G	16.37:g.30732740C>G	ENSP00000262518:p.Pro1162Ala					SRCAP_ENST00000395059.2_Missense_Mutation_p.P1162A|SRCAP_ENST00000344771.4_Intron	p.P1162A	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		21	3869	+			1162			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.3484C>G	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	7.457	0.643831	0.14451	.	.	ENSG00000080603	ENST00000262518;ENST00000395059	D;D	0.91686	-2.87;-2.89	5.26	3.32	0.38043	.	.	.	.	.	D	0.83431	0.5253	N	0.19112	0.55	0.80722	D	1	B;B	0.22683	0.073;0.044	B;B	0.23716	0.048;0.022	T	0.75808	-0.3187	9	0.41790	T	0.15	-1.5322	5.6643	0.17687	0.1442:0.6388:0.1395:0.0774	.	1162;1162	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	A	1162	ENSP00000262518:P1162A;ENSP00000378499:P1162A	ENSP00000262518:P1162A	P	+	1	0	SRCAP	30640241	0.007000	0.16637	0.976000	0.42696	0.456000	0.32438	0.438000	0.21559	0.790000	0.33803	0.563000	0.77884	CCG		0.612	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		32	80	0	0	0	1	0	32	80				
PPP2R3A	5523	broad.mit.edu	37	3	135825112	135825112	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr3:135825112G>A	ENST00000264977.3	+	13	3894	c.3277G>A	c.(3277-3279)Gag>Aag	p.E1093K	PPP2R3A_ENST00000469270.1_3'UTR|PPP2R3A_ENST00000490467.1_Missense_Mutation_p.E357K|PPP2R3A_ENST00000334546.2_Missense_Mutation_p.E472K	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	1093					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						TGCCGCTGAGGAGTATGAGAC	0.463																																						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.(3277-3279)Gag>Aag		protein phosphatase 2, regulatory subunit B'', alpha							75.0	76.0	76.0					3																	135825112		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.chr3:135825112G>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.3277G>A	3.37:g.135825112G>A	ENSP00000264977:p.Glu1093Lys					PPP2R3A_ENST00000469270.1_3'UTR|PPP2R3A_ENST00000490467.1_Missense_Mutation_p.E357K|PPP2R3A_ENST00000334546.2_Missense_Mutation_p.E472K	p.E1093K	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN			13	3894	+			1093					A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP	ENST00000264977.3	37	c.3277G>A	CCDS3087.1	.	.	.	.	.	.	.	.	.	.	G	37	6.048081	0.97236	.	.	ENSG00000073711	ENST00000264977;ENST00000490467;ENST00000334546	T;T;T	0.42900	0.96;0.96;0.96	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.66157	0.2761	M	0.76433	2.335	0.80722	D	1	D;D	0.69078	0.997;0.987	D;D	0.67231	0.95;0.911	T	0.66118	-0.6003	10	0.62326	D	0.03	.	19.5352	0.95251	0.0:0.0:1.0:0.0	.	472;1093	Q06190-2;Q06190	.;P2R3A_HUMAN	K	1093;357;472	ENSP00000264977:E1093K;ENSP00000419344:E357K;ENSP00000334748:E472K	ENSP00000264977:E1093K	E	+	1	0	PPP2R3A	137307802	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.230000	0.95299	2.850000	0.98022	0.650000	0.86243	GAG		0.463	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	NM_002718		28	58	0	0	0	1	0	28	58				
PYROXD1	79912	broad.mit.edu	37	12	21615672	21615672	+	Splice_Site	SNP	A	A	G			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr12:21615672A>G	ENST00000240651.9	+	10	1047		c.e10-1		PYROXD1_ENST00000538582.1_Splice_Site	NM_024854.3	NP_079130.2	Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 1								oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						AATGTTGTTTAGTTTGATCTA	0.373																																						ENST00000538582.1																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						c.e10-1		pyridine nucleotide-disulphide oxidoreductase domain 1							143.0	131.0	135.0					12																	21615672		2203	4300	6503	SO:0001630	splice_region_variant	79912						oxidoreductase activity	g.chr12:21615672A>G	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.994-1A>G	12.37:g.21615672A>G						PYROXD1_ENST00000240651.9_Splice_Site				Q8WU10	PYRD1_HUMAN			10	1533	+								A6NKI6|B3KWN8|Q9H6P1	Splice_Site	SNP	ENST00000240651.9	37		CCDS31755.1	.	.	.	.	.	.	.	.	.	.	A	13.71	2.318582	0.40996	.	.	ENSG00000121350	ENST00000536935;ENST00000240651;ENST00000538582	.	.	.	4.66	4.66	0.58398	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.149	0.54040	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PYROXD1	21506939	1.000000	0.71417	0.998000	0.56505	0.470000	0.32858	8.273000	0.89887	1.867000	0.54127	0.533000	0.62120	.		0.373	PYROXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402363.1	NM_024854	Intron	20	70	0	0	0	1	0	20	70				
MTFMT	123263	broad.mit.edu	37	15	65312542	65312542	+	Silent	SNP	C	C	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr15:65312542C>T	ENST00000220058.4	-	5	727	c.714G>A	c.(712-714)gcG>gcA	p.A238A	MTFMT_ENST00000561025.1_5'Flank	NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	238						mitochondrion (GO:0005739)	methionyl-tRNA formyltransferase activity (GO:0004479)			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	CACCGTAAGTCGCCCCCTCCA	0.413																																						ENST00000220058.4																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10						c.(712-714)gcG>gcA		mitochondrial methionyl-tRNA formyltransferase	Tetrahydrofolic acid(DB00116)						36.0	40.0	39.0					15																	65312542		1972	4174	6146	SO:0001819	synonymous_variant	123263					mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity	g.chr15:65312542C>T	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.714G>A	15.37:g.65312542C>T							p.A238A	NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN			5	727	-			238					B7Z734	Silent	SNP	ENST00000220058.4	37	c.714G>A	CCDS45280.1																																																																																				0.413	MTFMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418155.1	NM_139242		4	24	0	0	0	1	0	4	24				
MLPH	79083	broad.mit.edu	37	2	238449504	238449504	+	Silent	SNP	C	C	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr2:238449504C>T	ENST00000264605.3	+	11	1644	c.1350C>T	c.(1348-1350)gaC>gaT	p.D450D	MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000445024.2_Silent_p.D450D|MLPH_ENST00000409373.1_Intron|MLPH_ENST00000338530.4_Silent_p.D422D|MLPH_ENST00000410032.1_Silent_p.D307D	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	450					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)		ACCCTGGGGACCCCGTCCAGT	0.607																																						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.(1348-1350)gaC>gaT		melanophilin							52.0	52.0	52.0					2																	238449504		2203	4298	6501	SO:0001819	synonymous_variant	79083						metal ion binding	g.chr2:238449504C>T	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.1350C>T	2.37:g.238449504C>T						MLPH_ENST00000409373.1_Intron|MLPH_ENST00000445024.2_Silent_p.D450D|MLPH_ENST00000338530.4_Silent_p.D422D|MLPH_ENST00000410032.1_Silent_p.D307D|MLPH_ENST00000468178.1_3'UTR	p.D450D	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)	11	1644	+		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)	450					B3KSS2|B4DKW7|G5E9G5|Q9HA71	Silent	SNP	ENST00000264605.3	37	c.1350C>T	CCDS2518.1	.	.	.	.	.	.	.	.	.	.	C	3.888	-0.024652	0.07589	.	.	ENSG00000115648	ENST00000436965	.	.	.	4.86	1.7	0.24286	.	.	.	.	.	T	0.22244	0.0536	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.18650	-1.0330	4	.	.	.	-9.8058	2.3097	0.04183	0.3588:0.386:0.1554:0.0998	.	.	.	.	I	171	.	.	T	+	2	0	MLPH	238114243	0.002000	0.14202	0.002000	0.10522	0.036000	0.12997	-0.169000	0.09911	1.026000	0.39733	0.655000	0.94253	ACC		0.607	MLPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257083.2	NM_024101		8	24	0	0	0	1	0	8	24				
ITIH4	3700	broad.mit.edu	37	3	52850942	52850942	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr3:52850942G>A	ENST00000266041.4	-	21	2525	c.2429C>T	c.(2428-2430)tCt>tTt	p.S810F	ITIH4_ENST00000346281.5_Missense_Mutation_p.S794F|ITIH4_ENST00000406595.1_Missense_Mutation_p.S780F|ITIH4_ENST00000485816.1_Missense_Mutation_p.S815F|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	810					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)		CTTGTACGCAGAGCTTCTTCG	0.577																																						ENST00000266041.4																			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.(2428-2430)tCt>tTt		inter-alpha-trypsin inhibitor heavy chain family, member 4							176.0	177.0	177.0					3																	52850942		2203	4300	6503	SO:0001583	missense	3700				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52850942G>A	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.2429C>T	3.37:g.52850942G>A	ENSP00000266041:p.Ser810Phe					ITIH4_ENST00000406595.1_Missense_Mutation_p.S780F|ITIH4_ENST00000346281.5_Missense_Mutation_p.S794F|ITIH4_ENST00000485816.1_Missense_Mutation_p.S815F	p.S810F	NM_002218.4	NP_002209.2	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)	21	2525	-			810					B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Missense_Mutation	SNP	ENST00000266041.4	37	c.2429C>T	CCDS2865.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.899467	0.33535	.	.	ENSG00000055955	ENST00000266041;ENST00000346281;ENST00000485816;ENST00000406595;ENST00000538421	T;T;T;T	0.12465	2.68;2.68;2.68;2.68	5.47	4.59	0.56863	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.343274	0.25414	N	0.030854	T	0.28366	0.0701	L	0.59436	1.845	0.25589	N	0.986719	D;D;D;P	0.60575	0.988;0.957;0.979;0.889	P;P;P;P	0.59056	0.851;0.851;0.851;0.673	T	0.05649	-1.0872	10	0.72032	D	0.01	-10.533	12.4188	0.55508	0.0:0.1685:0.8315:0.0	.	780;815;810;794	E9PGN5;B7ZKJ8;Q14624;Q14624-2	.;.;ITIH4_HUMAN;.	F	810;794;815;780;768	ENSP00000266041:S810F;ENSP00000340520:S794F;ENSP00000417824:S815F;ENSP00000384425:S780F	ENSP00000266041:S810F	S	-	2	0	ITIH4	52825982	0.219000	0.23619	0.019000	0.16419	0.028000	0.11728	1.409000	0.34680	1.274000	0.44362	0.561000	0.74099	TCT		0.577	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1	NM_002218		32	212	0	0	0	1	0	32	212				
DRD5	1816	broad.mit.edu	37	4	9784872	9784872	+	Missense_Mutation	SNP	G	G	A	rs370199592		TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr4:9784872G>A	ENST00000304374.2	+	1	1615	c.1219G>A	c.(1219-1221)Gca>Aca	p.A407T		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	407					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)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	CAAGGAAATCGCAGCTGCCTA	0.582																																						ENST00000304374.2																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57						c.(1219-1221)Gca>Aca		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	G	THR/ALA	0,4406		0,0,2203	97.0	78.0	85.0		1219	2.1	0.0	4		85	1,8599	1.2+/-3.3	0,1,4299	no	missense	DRD5	NM_000798.4	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	407/478	9784872	1,13005	2203	4300	6503	SO:0001583	missense	0				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9784872G>A	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.1219G>A	4.37:g.9784872G>A	ENSP00000306129:p.Ala407Thr						p.A407T	NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN			1	1615	+			407					B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	c.1219G>A	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	g	2.206	-0.381815	0.04966	0.0	1.16E-4	ENSG00000169676	ENST00000304374	T	0.66460	-0.21	4.73	2.12	0.27331	.	0.830667	0.10646	N	0.650402	T	0.48786	0.1519	N	0.24115	0.695	0.09310	N	0.999998	B	0.06786	0.001	B	0.04013	0.001	T	0.27400	-1.0075	10	0.15066	T	0.55	.	9.441	0.38668	0.231:0.0:0.769:0.0	.	407	P21918	DRD5_HUMAN	T	407	ENSP00000306129:A407T	ENSP00000306129:A407T	A	+	1	0	DRD5	9393970	0.933000	0.31639	0.005000	0.12908	0.112000	0.19704	3.695000	0.54749	0.245000	0.21373	-1.502000	0.00957	GCA		0.582	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			4	68	0	0	0	1	0	4	68				
LAMC3	10319	broad.mit.edu	37	9	133932363	133932363	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr9:133932363C>T	ENST00000361069.4	+	12	2120	c.1987C>T	c.(1987-1989)Ctt>Ttt	p.L663F	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	663	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)		CCGGCCAGGGCTTTCCCCGCC	0.607																																						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.(1987-1989)Ctt>Ttt		laminin, gamma 3							68.0	74.0	72.0					9																	133932363		2203	4300	6503	SO:0001583	missense	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133932363C>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.1987C>T	9.37:g.133932363C>T	ENSP00000354360:p.Leu663Phe					LAMC3_ENST00000480883.1_Intron	p.L663F	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	12	2120	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	663			Laminin IV type A.		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	c.1987C>T	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.329939	0.41297	.	.	ENSG00000050555	ENST00000361069;ENST00000355048	T	0.35973	1.28	4.95	4.05	0.47172	Laminin B type IV (2);	0.736619	0.12956	N	0.425434	T	0.38453	0.1041	M	0.63428	1.95	0.09310	N	1	B	0.17465	0.022	B	0.23852	0.049	T	0.34104	-0.9842	10	0.56958	D	0.05	.	11.0247	0.47739	0.1444:0.7164:0.1392:0.0	.	663	Q9Y6N6	LAMC3_HUMAN	F	663	ENSP00000354360:L663F	ENSP00000347156:L663F	L	+	1	0	LAMC3	132922184	0.000000	0.05858	0.001000	0.08648	0.203000	0.24098	0.932000	0.28884	1.086000	0.41228	0.650000	0.86243	CTT		0.607	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		18	126	0	0	0	1	0	18	126				
C16orf46	123775	broad.mit.edu	37	16	81094882	81094882	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr16:81094882C>T	ENST00000299578.5	-	4	1307	c.1072G>A	c.(1072-1074)Gcc>Acc	p.A358T	C16orf46_ENST00000378611.4_Missense_Mutation_p.A358T|RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000444657.3_5'Flank	NM_152337.2	NP_689550.2	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	358						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						TCCTGCTTGGCCTTTGGGAGA	0.498																																						ENST00000378611.4																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						c.(1072-1074)Gcc>Acc		chromosome 16 open reading frame 46							156.0	148.0	151.0					16																	81094882		2202	4300	6502	SO:0001583	missense	123775							g.chr16:81094882C>T	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.1072G>A	16.37:g.81094882C>T	ENSP00000299578:p.Ala358Thr					RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000299578.5_Missense_Mutation_p.A358T	p.A358T	NM_001100873.1	NP_001094343.1	Q6P387	CP046_HUMAN			3	1187	-			358					Q96MA7	Missense_Mutation	SNP	ENST00000299578.5	37	c.1072G>A	CCDS10932.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945494	0.53079	.	.	ENSG00000166455	ENST00000378611;ENST00000444657;ENST00000299578	T;T	0.20069	2.1;2.1	5.05	0.713	0.18173	.	0.207876	0.33895	N	0.004455	T	0.13157	0.0319	L	0.34521	1.04	0.27937	N	0.937667	B;B	0.31705	0.336;0.336	B;B	0.35353	0.201;0.201	T	0.12760	-1.0535	10	0.37606	T	0.19	.	3.4518	0.07501	0.3053:0.442:0.0:0.2527	.	358;358	Q6P387-2;Q6P387	.;CP046_HUMAN	T	358;85;358	ENSP00000367874:A358T;ENSP00000299578:A358T	ENSP00000299578:A358T	A	-	1	0	C16orf46	79652383	0.254000	0.23992	0.442000	0.26870	0.596000	0.36781	-0.053000	0.11846	-0.021000	0.14009	0.563000	0.77884	GCC		0.498	C16orf46-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269054.2	NM_152337		12	113	0	0	0	1	0	12	113				
FAT4	79633	broad.mit.edu	37	4	126240610	126240610	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr4:126240610T>C	ENST00000394329.3	+	1	3057	c.3044T>C	c.(3043-3045)tTc>tCc	p.F1015S		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1015	Cadherin 10. {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						AATTCTCGATTCTTTAAAGTA	0.388																																						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.(3043-3045)tTc>tCc		FAT atypical cadherin 4							99.0	93.0	95.0					4																	126240610		1864	4099	5963	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126240610T>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.3044T>C	4.37:g.126240610T>C	ENSP00000377862:p.Phe1015Ser						p.F1015S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			1	3057	+			1015			Cadherin 10.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.3044T>C	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	T	17.70	3.453608	0.63290	.	.	ENSG00000196159	ENST00000394329	T	0.61510	0.1	5.0	5.0	0.66597	Cadherin (3);Cadherin-like (1);	0.000000	0.36268	U	0.002699	T	0.78065	0.4225	M	0.85462	2.755	0.80722	D	1	D	0.62365	0.991	D	0.79108	0.992	T	0.82184	-0.0583	10	0.72032	D	0.01	.	14.9061	0.70721	0.0:0.0:0.0:1.0	.	1015	Q6V0I7	FAT4_HUMAN	S	1015	ENSP00000377862:F1015S	ENSP00000377862:F1015S	F	+	2	0	FAT4	126460060	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.708000	0.84633	2.100000	0.63781	0.533000	0.62120	TTC		0.388	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		5	118	0	0	0	1	0	5	118				
EXPH5	23086	broad.mit.edu	37	11	108380864	108380864	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr11:108380864G>T	ENST00000265843.4	-	6	5480	c.5370C>A	c.(5368-5370)caC>caA	p.H1790Q	EXPH5_ENST00000443411.1_Missense_Mutation_p.H1602Q|EXPH5_ENST00000525344.1_Missense_Mutation_p.H1783Q|EXPH5_ENST00000428840.1_Missense_Mutation_p.H1714Q	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1790					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)		AACGATAGAGGTGTGGCTCAG	0.463																																						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.(5368-5370)caC>caA		exophilin 5							91.0	99.0	96.0					11																	108380864		2201	4298	6499	SO:0001583	missense	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108380864G>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.5370C>A	11.37:g.108380864G>T	ENSP00000265843:p.His1790Gln					EXPH5_ENST00000525344.1_Missense_Mutation_p.H1783Q|EXPH5_ENST00000428840.1_Missense_Mutation_p.H1714Q|EXPH5_ENST00000443411.1_Missense_Mutation_p.H1602Q	p.H1790Q	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	5480	-		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)	1790					Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	c.5370C>A	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.351968	0.41700	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000439956;ENST00000526312	T;T;T;T;T	0.02944	4.33;4.25;4.1;4.33;4.17	6.17	-6.62	0.01813	.	0.929457	0.09177	N	0.837997	T	0.06371	0.0164	M	0.67953	2.075	0.09310	N	1	D	0.69078	0.997	D	0.69479	0.964	T	0.11792	-1.0573	10	0.23302	T	0.38	2.7778	0.763	0.01010	0.3028:0.2823:0.2261:0.1888	.	1790	Q8NEV8	EXPH5_HUMAN	Q	1790;1714;1602;1783;620;1714	ENSP00000265843:H1790Q;ENSP00000391966:H1714Q;ENSP00000411390:H1602Q;ENSP00000432546:H1783Q;ENSP00000432683:H1714Q	ENSP00000265843:H1790Q	H	-	3	2	EXPH5	107886074	0.000000	0.05858	0.000000	0.03702	0.154000	0.21943	-1.461000	0.02366	-1.023000	0.03342	0.655000	0.94253	CAC		0.463	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		13	123	1	0	2.48551e-13	1	2.62673e-13	13	123				
RAB17	64284	broad.mit.edu	37	2	238483770	238483770	+	Splice_Site	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr2:238483770G>A	ENST00000264601.3	-	6	1160	c.531C>T	c.(529-531)gcC>gcT	p.A177A	RAB17_ENST00000409576.1_Intron|RAB17_ENST00000538644.1_Splice_Site_p.A50A|RAB17_ENST00000409822.1_Splice_Site_p.A50A	NM_022449.3	NP_071894.1	Q9H0T7	RAB17_HUMAN	RAB17, member RAS oncogene family	177					cilium assembly (GO:0042384)|endocytic recycling (GO:0032456)|establishment of melanosome localization (GO:0032401)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|melanosome transport (GO:0032402)|protein transport (GO:0015031)|regulation of dendrite development (GO:0050773)|regulation of filopodium assembly (GO:0051489)|regulation of synapse assembly (GO:0051963)|small GTPase mediated signal transduction (GO:0007264)|transcytosis (GO:0045056)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|dendrite (GO:0030425)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|melanosome (GO:0042470)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)	4		Renal(207;0.00272)|Breast(86;0.00297)|all_hematologic(139;0.182)|Ovarian(221;0.221)		Epithelial(121;9.36e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.26e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000354)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.026)		GTAGCTCTTGGGCTGTGAACA	0.667																																					Colon(56;987 1029 6466 13943 27336)	ENST00000264601.3																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)	4						c.e6-1		RAB17, member RAS oncogene family							30.0	32.0	31.0					2																	238483770		2203	4300	6503	SO:0001630	splice_region_variant	64284				protein transport|small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|protein binding	g.chr2:238483770G>A	AK022600	CCDS2520.1	2q37.3	2008-05-23			ENSG00000124839	ENSG00000124839		"""RAB, member RAS oncogene"""	16523	protein-coding gene	gene with protein product		602206				9624171	Standard	NM_022449		Approved		uc002vwz.2	Q9H0T7	OTTHUMG00000133299	ENST00000264601.3:c.530-1C>T	2.37:g.238483770G>A						RAB17_ENST00000409576.1_Intron|RAB17_ENST00000409822.1_Splice_Site_p.A50_splice|RAB17_ENST00000538644.1_Splice_Site_p.A50_splice	p.A177_splice	NM_022449.3	NP_071894.1	Q9H0T7	RAB17_HUMAN		Epithelial(121;9.36e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.26e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000354)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.026)	6	1160	-		Renal(207;0.00272)|Breast(86;0.00297)|all_hematologic(139;0.182)|Ovarian(221;0.221)	177					Q53QV6|Q6IA73|Q6PJZ0|Q9BVU1|Q9H9U9	Splice_Site	SNP	ENST00000264601.3	37	c.529_splice	CCDS2520.1																																																																																				0.667	RAB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257084.2		Silent	16	31	0	0	0	1	0	16	31				
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65.0	56.0	59.0					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	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;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		18	9	0	0	0	1	0	18	9				
RAPGEF6	51735	broad.mit.edu	37	5	130825275	130825275	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr5:130825275T>C	ENST00000509018.1	-	15	2009	c.1804A>G	c.(1804-1806)Act>Gct	p.T602A	RAPGEF6_ENST00000510071.1_Missense_Mutation_p.T602A|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.T602A|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.T602A|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.T317A|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.T602A|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.T652A|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.T602A	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	602	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143, ECO:0000305}.				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)		GCAAGATGAGTATTATTCCTC	0.269																																					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.(1804-1806)Act>Gct		Rap guanine nucleotide exchange factor (GEF) 6							69.0	73.0	71.0					5																	130825275		2202	4291	6493	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.chr5:130825275T>C	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.1804A>G	5.37:g.130825275T>C	ENSP00000421684:p.Thr602Ala					RAPGEF6_ENST00000296859.6_Missense_Mutation_p.T602A|FNIP1_ENST00000514667.1_Missense_Mutation_p.T652A|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.T602A|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.T317A|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.T602A|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.T602A|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.T602A	p.T602A	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)	15	2009	-			602			PDZ.		A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	c.1804A>G	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.870345	0.91587	.	.	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	0.32753	2.28;2.28;2.28;2.28;2.28;2.28;1.44;2.28	5.73	5.73	0.89815	PDZ/DHR/GLGF (3);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.45637	0.1352	L	0.37466	1.105	0.80722	D	1	P;P;P;D;P;P;P	0.63046	0.846;0.927;0.712;0.992;0.846;0.953;0.774	P;P;B;D;P;P;P	0.66497	0.781;0.781;0.396;0.944;0.781;0.674;0.705	T	0.42137	-0.9469	10	0.72032	D	0.01	.	16.0152	0.80434	0.0:0.0:0.0:1.0	.	602;602;602;317;652;602;602	A3KN82;B7ZML2;Q8TEU7-2;D6RE77;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;.;RPGF6_HUMAN	A	602;602;602;602;602;317;602;602;652	ENSP00000421684:T602A;ENSP00000309298:T602A;ENSP00000426081:T602A;ENSP00000296859:T602A;ENSP00000426910:T317A;ENSP00000311419:T602A;ENSP00000425389:T602A;ENSP00000426948:T652A	ENSP00000426948:T652A	T	-	1	0	RAPGEF6;FNIP1	130853174	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.698000	0.84413	2.180000	0.69256	0.533000	0.62120	ACT		0.269	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		7	13	0	0	0	1	0	7	13				
PCDHB6	56130	broad.mit.edu	37	5	140531706	140531706	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr5:140531706G>T	ENST00000231136.1	+	1	1868	c.1868G>T	c.(1867-1869)cGc>cTc	p.R623L	PCDHB6_ENST00000543635.1_Missense_Mutation_p.R487L	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	623	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)	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)			GGCGAGGTGCGCACCGCCAGG	0.687																																						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.(1867-1869)cGc>cTc									27.0	29.0	28.0					5																	140531706		2056	4095	6151	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140531706G>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.1868G>T	5.37:g.140531706G>T	ENSP00000231136:p.Arg623Leu					PCDHB6_ENST00000543635.1_Missense_Mutation_p.R487L	p.R623L	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1868	+			623			Cadherin 6.		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.1868G>T	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.475617	0.63737	.	.	ENSG00000113211	ENST00000543635;ENST00000231136	T;T	0.52754	0.65;0.65	4.51	4.51	0.55191	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.72439	0.3460	M	0.89287	3.02	0.48288	D	0.999621	D	0.61080	0.989	D	0.67103	0.949	T	0.79761	-0.1667	9	0.87932	D	0	.	16.2179	0.82239	0.0:0.0:1.0:0.0	.	623	Q9Y5E3	PCDB6_HUMAN	L	487;623	ENSP00000438466:R487L;ENSP00000231136:R623L	ENSP00000231136:R623L	R	+	2	0	PCDHB6	140511890	0.940000	0.31905	1.000000	0.80357	0.250000	0.25880	4.655000	0.61476	2.223000	0.72356	0.556000	0.70494	CGC		0.687	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		4	86	1	0	0.150653	1	0.153965	4	86				
SGSH	6448	broad.mit.edu	37	17	78184761	78184761	+	Silent	SNP	G	G	A	rs149139346	byFrequency	TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr17:78184761G>A	ENST00000326317.6	-	8	1085	c.999C>T	c.(997-999)taC>taT	p.Y333Y	SGSH_ENST00000572208.1_5'Flank|SGSH_ENST00000534910.1_Silent_p.Y130Y	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	333					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)			CAAAGATGGCGTAGCTGGGGT	0.652																																						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.(997-999)taC>taT		N-sulfoglucosamine sulfohydrolase				5,4401	9.9+/-24.2	0,5,2198	71.0	54.0	60.0		999	-5.1	0.7	17	dbSNP_134	60	0,8600		0,0,4300	no	coding-synonymous	SGSH	NM_000199.3		0,5,6498	AA,AG,GG		0.0,0.1135,0.0384		333/503	78184761	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	6448				proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity	g.chr17:78184761G>A	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.999C>T	17.37:g.78184761G>A						SGSH_ENST00000534910.1_Silent_p.Y130Y	p.Y333Y	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		8	1085	-	all_neural(118;0.0952)		333					A8K5E2	Silent	SNP	ENST00000326317.6	37	c.999C>T	CCDS11770.1																																																																																				0.652	SGSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437695.1	NM_000199		4	80	0	0	0	1	0	4	80				
MUC16	94025	broad.mit.edu	37	19	9089322	9089322	+	Silent	SNP	C	C	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr19:9089322C>T	ENST00000397910.4	-	1	2696	c.2493G>A	c.(2491-2493)tcG>tcA	p.S831S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	831	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						GACTCTCTGACGATTCTGAAG	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.(2491-2493)tcG>tcA		mucin 16, cell surface associated							198.0	188.0	191.0					19																	9089322		2009	4174	6183	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9089322C>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.2493G>A	19.37:g.9089322C>T							p.S831S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	2696	-			831			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.2493G>A	CCDS54212.1																																																																																				0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		40	217	0	0	0	1	0	40	217				
GEMIN8	54960	broad.mit.edu	37	X	14027048	14027048	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:14027048A>G	ENST00000380523.4	-	5	1031	c.713T>C	c.(712-714)aTc>aCc	p.I238T	GEMIN8_ENST00000398355.3_Missense_Mutation_p.I238T	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	238					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						CTTCAGGGGGATGACCGGCCA	0.552																																						ENST00000380523.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						c.(712-714)aTc>aCc		gem (nuclear organelle) associated protein 8							75.0	70.0	71.0					X																	14027048		2203	4300	6503	SO:0001583	missense	54960				spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding	g.chrX:14027048A>G	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.713T>C	X.37:g.14027048A>G	ENSP00000369895:p.Ile238Thr					GEMIN8_ENST00000398355.3_Missense_Mutation_p.I238T	p.I238T	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN			5	1031	-			238					C4AMC4|Q2LJ66|Q6ZV27	Missense_Mutation	SNP	ENST00000380523.4	37	c.713T>C	CCDS14159.1	.	.	.	.	.	.	.	.	.	.	.	24.0	4.485332	0.84854	.	.	ENSG00000046647	ENST00000380523;ENST00000398355	T;T	0.64260	-0.09;-0.09	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.78438	0.4283	M	0.74647	2.275	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81284	-0.1002	10	0.87932	D	0	-9.4574	13.8801	0.63678	1.0:0.0:0.0:0.0	.	238	Q9NWZ8	GEMI8_HUMAN	T	238	ENSP00000369895:I238T;ENSP00000381398:I238T	ENSP00000369895:I238T	I	-	2	0	GEMIN8	13936969	1.000000	0.71417	0.829000	0.32907	0.904000	0.53231	9.115000	0.94336	1.875000	0.54330	0.430000	0.28490	ATC		0.552	GEMIN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055815.1	NM_017856		3	101	0	0	0	1	0	3	101				
EIF2B4	8890	broad.mit.edu	37	2	27591981	27591981	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr2:27591981G>A	ENST00000347454.4	-	4	481	c.310C>T	c.(310-312)Cgt>Tgt	p.R104C	SNX17_ENST00000233575.2_5'Flank|SNX17_ENST00000542478.1_5'Flank|EIF2B4_ENST00000451130.2_Missense_Mutation_p.R124C|SNX17_ENST00000537606.1_5'Flank|AC074117.10_ENST00000412749.1_RNA|EIF2B4_ENST00000493344.2_Missense_Mutation_p.R125C|SNX17_ENST00000543024.1_5'Flank|EIF2B4_ENST00000445933.2_Missense_Mutation_p.R103C	NM_001034116.1|NM_015636.3	NP_001029288.1|NP_056451.3	Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa	104					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation (GO:0045947)|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)|regulation of translation (GO:0006417)|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)	translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGGCTCGACGCTCAGCCCGA	0.602																																						ENST00000493344.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10						c.(373-375)Cgt>Tgt		eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa							80.0	77.0	78.0					2																	27591981		2203	4300	6503	SO:0001583	missense	0				myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	translation initiation factor activity|translation initiation factor binding	g.chr2:27591981G>A	AJ011306	CCDS33164.1, CCDS46244.1, CCDS46245.1	2p23.3	2008-02-05	2002-08-29		ENSG00000115211	ENSG00000115211			3260	protein-coding gene	gene with protein product		606687	"""eukaryotic translation initiation factor 2B, subunit 4 (delta, 67kD)"""			8929216, 7982969	Standard	NM_172195		Approved	EIF2Bdelta, EIF-2B, DKFZP586J0119, EIF2B	uc002rjz.3	Q9UI10	OTTHUMG00000151927	ENST00000347454.4:c.310C>T	2.37:g.27591981G>A	ENSP00000233552:p.Arg104Cys					EIF2B4_ENST00000451130.2_Missense_Mutation_p.R124C|EIF2B4_ENST00000445933.2_Missense_Mutation_p.R103C|EIF2B4_ENST00000347454.4_Missense_Mutation_p.R104C	p.R125C			Q9UI10	EI2BD_HUMAN			3	685	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		104					Q53RY7|Q5BJF4|Q9BUV9|Q9UBG4|Q9UIQ9|Q9UJ95	Missense_Mutation	SNP	ENST00000347454.4	37	c.373C>T	CCDS33164.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.812342	0.70912	.	.	ENSG00000115211	ENST00000347454;ENST00000414437;ENST00000445933;ENST00000451130;ENST00000493344	D;D;D;D	0.94966	-3.57;-3.57;-3.57;-3.57	5.27	2.37	0.29283	.	0.000000	0.85682	D	0.000000	D	0.97012	0.9024	M	0.86502	2.82	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.998;0.999	D;P;P;P;P	0.69307	0.963;0.781;0.781;0.609;0.855	D	0.96740	0.9546	10	0.87932	D	0	-15.954	13.2573	0.60087	0.0:0.0:0.4368:0.5632	.	97;101;103;104;124	Q59FC8;F5H6W1;Q9UI10-3;Q9UI10;Q9UI10-2	.;.;.;EI2BD_HUMAN;.	C	104;101;103;124;125	ENSP00000233552:R104C;ENSP00000394397:R103C;ENSP00000394869:R124C;ENSP00000429323:R125C	ENSP00000233552:R104C	R	-	1	0	EIF2B4	27445485	1.000000	0.71417	0.962000	0.40283	0.704000	0.40688	1.271000	0.33098	0.316000	0.23135	0.561000	0.74099	CGT		0.602	EIF2B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324448.1			59	108	0	0	0	1	0	59	108				
OOSP2	219990	broad.mit.edu	37	11	59810975	59810975	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr11:59810975T>A	ENST00000278855.2	+	2	283	c.98T>A	c.(97-99)gTc>gAc	p.V33D	PLAC1L_ENST00000532905.1_Missense_Mutation_p.V2D	NM_173801.3	NP_776162.2	Q86WS3	OOSP2_HUMAN		33				V -> A (in Ref. 1; BAC04191). {ECO:0000305}.		extracellular region (GO:0005576)				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						TGGTTGATGGTCTCAGTTATC	0.393																																						ENST00000278855.2																			0				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						c.(97-99)gTc>gAc									126.0	124.0	124.0					11																	59810975		2201	4295	6496	SO:0001583	missense	0					extracellular region		g.chr11:59810975T>A																												ENST00000278855.2:c.98T>A	11.37:g.59810975T>A	ENSP00000278855:p.Val33Asp					PLAC1L_ENST00000532905.1_Missense_Mutation_p.V2D	p.V33D	NM_173801.3	NP_776162.2	Q86WS3	PLACL_HUMAN			2	283	+			33	V -> A (in Ref. 1; BAC04191).				E9PJA4|Q8N9U6	Missense_Mutation	SNP	ENST00000278855.2	37	c.98T>A	CCDS7979.1	.	.	.	.	.	.	.	.	.	.	T	14.03	2.414344	0.42817	.	.	ENSG00000149507	ENST00000278855;ENST00000532905	.	.	.	3.18	3.18	0.36537	.	0.236875	0.21880	N	0.067747	T	0.52549	0.1741	L	0.60455	1.87	0.09310	N	1	D	0.69078	0.997	P	0.62184	0.899	T	0.37244	-0.9714	9	0.87932	D	0	-2.7039	8.1135	0.30928	0.0:0.0:0.0:1.0	.	33	Q86WS3	PLACL_HUMAN	D	33;2	.	ENSP00000278855:V33D	V	+	2	0	PLAC1L	59567551	0.957000	0.32711	0.014000	0.15608	0.050000	0.14768	2.521000	0.45563	1.686000	0.51046	0.455000	0.32223	GTC		0.393	PLAC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394411.1			9	41	0	0	0	1	0	9	41				
PCDHA11	56138	broad.mit.edu	37	5	140249832	140249832	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr5:140249832G>A	ENST00000398640.2	+	1	1144	c.1144G>A	c.(1144-1146)Gga>Aga	p.G382R	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	382	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)			AGGTGTCAACGGACAGGTGAC	0.602																																						ENST00000398640.2																			0				breast(1)|lung(1)	2						c.(1144-1146)Gga>Aga									109.0	99.0	102.0					5																	140249832		2203	4300	6503	SO:0001583	missense	0							g.chr5:140249832G>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.1144G>A	5.37:g.140249832G>A	ENSP00000381636:p.Gly382Arg					PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron	p.G382R	NM_018902.3	NP_061725.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1144	+								B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	c.1144G>A	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.623917	0.46840	.	.	ENSG00000249158	ENST00000398640	T	0.24538	1.85	5.85	5.85	0.93711	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.58836	0.2150	M	0.85777	2.775	0.42234	D	0.991905	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.62431	-0.6856	9	0.62326	D	0.03	.	19.7493	0.96261	0.0:0.0:1.0:0.0	.	382;382	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	R	382	ENSP00000381636:G382R	ENSP00000381636:G382R	G	+	1	0	PCDHA11	140230016	1.000000	0.71417	0.979000	0.43373	0.254000	0.26022	4.502000	0.60400	2.767000	0.95098	0.563000	0.77884	GGA		0.602	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		16	113	0	0	0	1	0	16	113				
PITPNM3	83394	broad.mit.edu	37	17	6381927	6381927	+	Silent	SNP	T	T	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr17:6381927T>A	ENST00000262483.8	-	7	804	c.717A>T	c.(715-717)cgA>cgT	p.R239R	PITPNM3_ENST00000421306.3_Silent_p.R203R	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	239					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)		CCTGGTTGGCTCGCTCGATGA	0.632																																						ENST00000262483.8																			0											c.(715-717)cgA>cgT									81.0	70.0	74.0					17																	6381927		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr17:6381927T>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.717A>T	17.37:g.6381927T>A						ACKR6_ENST00000421306.3_Silent_p.R203R	p.R239R	NM_031220.3	NP_112497.2					7	804	-								A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Silent	SNP	ENST00000262483.8	37	c.717A>T	CCDS11076.1																																																																																				0.632	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220		10	50	0	0	0	1	0	10	50				
ATAD3C	219293	broad.mit.edu	37	1	1386075	1386075	+	Silent	SNP	C	C	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	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		4	18	0	0	0	1	0	4	18				
ARHGEF12	23365	broad.mit.edu	37	11	120355176	120355176	+	Silent	SNP	C	C	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr11:120355176C>T	ENST00000397843.2	+	40	4750	c.4584C>T	c.(4582-4584)tgC>tgT	p.C1528C	ARHGEF12_ENST00000356641.3_Silent_p.C1509C|ARHGEF12_ENST00000532993.1_Silent_p.C1425C	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1528					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)		CCATTCTTTGCCAAAGGCTGG	0.378			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.(4582-4584)tgC>tgT		Rho guanine nucleotide exchange factor (GEF) 12							90.0	82.0	84.0					11																	120355176		1863	4103	5966	SO:0001819	synonymous_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.chr11:120355176C>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.4584C>T	11.37:g.120355176C>T						ARHGEF12_ENST00000356641.3_Silent_p.C1509C|ARHGEF12_ENST00000532993.1_Silent_p.C1425C	p.C1528C	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	4750	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)	1528					O15086|Q6P526	Silent	SNP	ENST00000397843.2	37	c.4584C>T	CCDS41727.1																																																																																				0.378	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313		5	92	0	0	0	1	0	5	92				
DCAF12L2	340578	broad.mit.edu	37	X	125299120	125299120	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:125299120C>T	ENST00000360028.2	-	1	814	c.788G>A	c.(787-789)cGc>cAc	p.R263H	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.R263H			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	263										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						CCGTACCTTGCGGTTGCTGGG	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.(787-789)cGc>cAc		DDB1 and CUL4 associated factor 12-like 2							38.0	43.0	41.0					X																	125299120		2203	4300	6503	SO:0001583	missense	340578							g.chrX:125299120C>T	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.788G>A	X.37:g.125299120C>T	ENSP00000353128:p.Arg263His					DCAF12L2_ENST00000360028.2_Missense_Mutation_p.R263H	p.R263H	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN			2	868	-			263					B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.788G>A	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	C	8.890	0.953815	0.18431	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.63255	-0.03;-0.03	3.72	1.94	0.25998	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.549990	0.13431	N	0.388455	T	0.52837	0.1759	L	0.57536	1.79	0.21697	N	0.999583	B	0.15719	0.014	B	0.10450	0.005	T	0.45308	-0.9270	10	0.40728	T	0.16	.	5.2143	0.15334	0.0:0.7235:0.0:0.2765	.	263	Q5VW00	DC122_HUMAN	H	263	ENSP00000441489:R263H;ENSP00000353128:R263H	ENSP00000353128:R263H	R	-	2	0	DCAF12L2	125126801	1.000000	0.71417	0.018000	0.16275	0.687000	0.40016	3.728000	0.54991	0.382000	0.24878	0.544000	0.68410	CGC		0.637	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		5	54	0	0	0	1	0	5	54				
SLITRK2	84631	broad.mit.edu	37	X	144904329	144904329	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:144904329C>A	ENST00000370490.1	+	1	4641	c.386C>A	c.(385-387)aCc>aAc	p.T129N	SLITRK2_ENST00000447897.2_Missense_Mutation_p.T129N|SLITRK2_ENST00000434188.2_Missense_Mutation_p.T129N|SLITRK2_ENST00000428560.2_Missense_Mutation_p.T129N|SLITRK2_ENST00000413937.2_Missense_Mutation_p.T129N			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	129					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)					AGGGAGGACACCTTCCTAGGC	0.502																																						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.(385-387)aCc>aAc		SLIT and NTRK-like family, member 2							82.0	64.0	70.0					X																	144904329		2203	4300	6503	SO:0001583	missense	84631					integral to membrane		g.chrX:144904329C>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.386C>A	X.37:g.144904329C>A	ENSP00000359521:p.Thr129Asn					SLITRK2_ENST00000447897.2_Missense_Mutation_p.T129N|SLITRK2_ENST00000428560.2_Missense_Mutation_p.T129N|SLITRK2_ENST00000434188.2_Missense_Mutation_p.T129N|SLITRK2_ENST00000413937.2_Missense_Mutation_p.T129N	p.T129N			Q9H156	SLIK2_HUMAN			1	4641	+	Acute lymphoblastic leukemia(192;6.56e-05)		129					A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	c.386C>A	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.291203	0.80914	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32;0.32	4.88	4.0	0.46444	.	0.000000	0.85682	U	0.000000	T	0.65729	0.2719	L	0.37697	1.125	0.58432	D	0.999994	D	0.89917	1.0	D	0.83275	0.996	T	0.66901	-0.5806	10	0.72032	D	0.01	-5.9442	11.9121	0.52745	0.0:0.8272:0.1728:0.0	.	129	Q9H156	SLIK2_HUMAN	N	129	ENSP00000334374:T129N;ENSP00000411681:T129N;ENSP00000359521:T129N;ENSP00000397015:T129N;ENSP00000407347:T129N;ENSP00000412010:T129N	ENSP00000334374:T129N	T	+	2	0	SLITRK2	144712021	1.000000	0.71417	0.982000	0.44146	0.985000	0.73830	4.946000	0.63576	0.819000	0.34492	0.600000	0.82982	ACC		0.502	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		4	58	1	0	0.00909568	1	0.00939887	4	58				
TIMD4	91937	broad.mit.edu	37	5	156378737	156378737	+	Silent	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr5:156378737G>A	ENST00000274532.2	-	3	521	c.465C>T	c.(463-465)acC>acT	p.T155T	TIMD4_ENST00000407087.3_Silent_p.T155T	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	155	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)			GTCGGGTGGTGGTGGGGCTTG	0.532																																						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.(463-465)acC>acT		T-cell immunoglobulin and mucin domain containing 4							769.0	639.0	683.0					5																	156378737		2203	4300	6503	SO:0001819	synonymous_variant	91937					integral to membrane		g.chr5:156378737G>A	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.465C>T	5.37:g.156378737G>A						TIMD4_ENST00000407087.3_Silent_p.T155T	p.T155T	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	521	-	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	155			Thr-rich.		B5MCL9	Silent	SNP	ENST00000274532.2	37	c.465C>T	CCDS4332.1																																																																																				0.532	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	NM_138379		10	367	0	0	0	1	0	10	367				
DMBT1	1755	broad.mit.edu	37	10	124389482	124389482	+	Missense_Mutation	SNP	G	G	A	rs376854088		TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr10:124389482G>A	ENST00000338354.3	+	44	5514	c.5408G>A	c.(5407-5409)cGc>cAc	p.R1803H	DMBT1_ENST00000344338.3_Missense_Mutation_p.R1793H|DMBT1_ENST00000368956.2_Missense_Mutation_p.R1175H|DMBT1_ENST00000359586.6_Missense_Mutation_p.R523H|DMBT1_ENST00000368909.3_Missense_Mutation_p.R1803H|DMBT1_ENST00000368955.3_Missense_Mutation_p.R1793H|DMBT1_ENST00000330163.4_Missense_Mutation_p.R1175H			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1803	CUB 1. {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)				TCTGGTTATCGCATAAACCTG	0.473																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000368909.3																			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.(5407-5409)cGc>cAc		deleted in malignant brain tumors 1		G	HIS/ARG,HIS/ARG,HIS/ARG	1,3955		0,1,1977	161.0	158.0	159.0		3524,5408,5378	-0.0	0.0	10		159	0,8310		0,0,4155	no	missense,missense,missense	DMBT1	NM_004406.2,NM_007329.2,NM_017579.2	29,29,29	0,1,6132	AA,AG,GG		0.0,0.0253,0.0082	probably-damaging,probably-damaging,probably-damaging	1175/1786,1803/2414,1793/2404	124389482	1,12265	1978	4155	6133	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.chr10:124389482G>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.5408G>A	10.37:g.124389482G>A	ENSP00000342210:p.Arg1803His					DMBT1_ENST00000344338.3_Missense_Mutation_p.R1793H|DMBT1_ENST00000368956.2_Missense_Mutation_p.R1175H|DMBT1_ENST00000359586.6_Missense_Mutation_p.R523H|DMBT1_ENST00000368955.3_Missense_Mutation_p.R1793H|DMBT1_ENST00000330163.4_Missense_Mutation_p.R1175H|DMBT1_ENST00000338354.3_Missense_Mutation_p.R1803H	p.R1803H	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN			44	5514	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	1803			CUB 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.5408G>A		.	.	.	.	.	.	.	.	.	.	G	14.33	2.504651	0.44558	2.53E-4	0.0	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000359586	T;T;T;T;T;T;T	0.18502	2.21;2.21;2.21;2.21;2.21;2.21;2.21	4.43	-0.0285	0.13922	CUB (5);	.	.	.	.	T	0.24812	0.0602	L	0.48877	1.53	0.09310	N	1	D;D;D;D;D;D;D	0.89917	0.994;0.999;0.98;0.999;0.999;1.0;0.998	P;D;P;D;D;D;D	0.75020	0.738;0.985;0.656;0.965;0.957;0.969;0.952	T	0.23119	-1.0197	9	0.11794	T	0.64	.	5.9769	0.19385	0.0939:0.0:0.4365:0.4696	.	523;1783;1052;1932;1175;1793;1803	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	H	1803;1932;1803;1803;1803;1803;1175;1793;1175;1175;1803;1793;1175;523	ENSP00000342210:R1803H;ENSP00000343175:R1793H;ENSP00000327747:R1175H;ENSP00000357905:R1803H;ENSP00000357951:R1793H;ENSP00000357952:R1175H;ENSP00000352593:R523H	ENSP00000331522:R1175H	R	+	2	0	DMBT1	124379472	0.000000	0.05858	0.003000	0.11579	0.386000	0.30323	0.139000	0.16036	-0.067000	0.12976	0.655000	0.94253	CGC		0.473	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		5	142	0	0	0	1	0	5	142				
OBSCN	84033	broad.mit.edu	37	1	228529180	228529180	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr1:228529180C>T	ENST00000422127.1	+	74	17943	c.17899C>T	c.(17899-17901)Cgc>Tgc	p.R5967C	OBSCN_ENST00000570156.2_Missense_Mutation_p.R6924C|OBSCN_ENST00000366707.4_Missense_Mutation_p.R3601C|OBSCN_ENST00000366709.4_Missense_Mutation_p.R3086C|OBSCN_ENST00000284548.11_Missense_Mutation_p.R5967C	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5967	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)				GGGGGATGACCGCGCCTTCGA	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.(20770-20772)Cgc>Tgc		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							35.0	44.0	41.0					1																	228529180		2120	4219	6339	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.chr1:228529180C>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.17899C>T	1.37:g.228529180C>T	ENSP00000409493:p.Arg5967Cys					OBSCN_ENST00000284548.11_Missense_Mutation_p.R5967C|OBSCN_ENST00000366707.4_Missense_Mutation_p.R3601C|OBSCN_ENST00000366709.4_Missense_Mutation_p.R3086C|OBSCN_ENST00000422127.1_Missense_Mutation_p.R5967C	p.R6924C	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			85	20844	+		Prostate(94;0.0405)	5967					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.20770C>T	CCDS58065.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.09|19.09	3.760478|3.760478	0.69763|0.69763	.|.	.|.	ENSG00000154358|ENSG00000154358	ENST00000441106|ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	.|T;T;T;T	.|0.11063	.|2.81;2.81;2.81;2.81	5.6|5.6	5.6|5.6	0.85130|0.85130	.|Pleckstrin homology-type (1);Pleckstrin homology domain (2);	.|0.069794	.|0.64402	.|D	.|0.000018	T|T	0.23014|0.23014	0.0556|0.0556	L|L	0.37630|0.37630	1.12|1.12	0.58432|0.58432	D|D	0.999995|0.999995	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.69307	.|0.92;0.963	T|T	0.00197|0.00197	-1.1930|-1.1930	5|10	.|0.66056	.|D	.|0.02	.|.	14.4604|14.4604	0.67445|0.67445	0.1471:0.8529:0.0:0.0|0.1471:0.8529:0.0:0.0	.|.	.|5967;5967	.|Q5VST9;Q5VST9-3	.|OBSCN_HUMAN;.	L|C	583|5967;5967;3601;3086	.|ENSP00000284548:R5967C;ENSP00000409493:R5967C;ENSP00000355668:R3601C;ENSP00000355670:R3086C	.|ENSP00000284548:R5967C	P|R	+|+	2|1	0|0	OBSCN|OBSCN	226595803|226595803	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.199000|0.199000	0.23934|0.23934	2.916000|2.916000	0.48813|0.48813	2.649000|2.649000	0.89929|0.89929	0.655000|0.655000	0.94253|0.94253	CCG|CGC		0.637	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		12	21	0	0	0	1	0	12	21				
SPATA18	132671	broad.mit.edu	37	4	52927044	52927044	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr4:52927044G>A	ENST00000295213.4	+	3	664	c.290G>A	c.(289-291)aGc>aAc	p.S97N	SPATA18_ENST00000506829.1_Intron|SPATA18_ENST00000419395.2_Missense_Mutation_p.S97N	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	97					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)			TCTGTTGACAGCAAGGTCCCC	0.478																																						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.(289-291)aGc>aAc		spermatogenesis associated 18							131.0	106.0	115.0					4																	52927044		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.chr4:52927044G>A	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.290G>A	4.37:g.52927044G>A	ENSP00000295213:p.Ser97Asn					SPATA18_ENST00000419395.2_Missense_Mutation_p.S97N|SPATA18_ENST00000506829.1_Intron	p.S97N	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)		3	664	+			97					B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Missense_Mutation	SNP	ENST00000295213.4	37	c.290G>A	CCDS3489.1	.	.	.	.	.	.	.	.	.	.	G	6.798	0.516211	0.12944	.	.	ENSG00000163071	ENST00000295213;ENST00000419395	T;D	0.88818	1.98;-2.43	4.67	1.78	0.24846	.	0.362131	0.33217	N	0.005157	T	0.80623	0.4658	L	0.42245	1.32	0.09310	N	1	B;B;B	0.18461	0.004;0.004;0.028	B;B;B	0.16722	0.004;0.004;0.016	T	0.67086	-0.5759	10	0.41790	T	0.15	-4.8611	2.9628	0.05897	0.1:0.1793:0.5358:0.185	.	97;97;97	Q8TC71-2;Q8TC71;Q96M13	.;MIEAP_HUMAN;.	N	97	ENSP00000295213:S97N;ENSP00000415309:S97N	ENSP00000295213:S97N	S	+	2	0	SPATA18	52621801	0.000000	0.05858	0.003000	0.11579	0.622000	0.37654	0.026000	0.13599	0.211000	0.20683	0.462000	0.41574	AGC		0.478	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263		3	51	0	0	0	1	0	3	51				
ABCA13	154664	broad.mit.edu	37	7	48313892	48313892	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr7:48313892T>G	ENST00000435803.1	+	17	4653	c.4629T>G	c.(4627-4629)atT>atG	p.I1543M		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1543					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						TTCAAAATATTTGGCTTCATT	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.(4627-4629)atT>atG		ATP-binding cassette, sub-family A (ABC1), member 13							44.0	45.0	44.0					7																	48313892		1803	4051	5854	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48313892T>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.4629T>G	7.37:g.48313892T>G	ENSP00000411096:p.Ile1543Met						p.I1543M	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			17	4653	+			1543					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.4629T>G	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	T	12.48	1.950430	0.34377	.	.	ENSG00000179869	ENST00000435803	D	0.86694	-2.16	5.28	-4.13	0.03904	.	1.014930	0.07910	N	0.974119	T	0.81118	0.4756	L	0.56769	1.78	0.23636	N	0.997233	P	0.35982	0.531	B	0.39185	0.293	T	0.69716	-0.5070	9	.	.	.	.	2.416	0.04436	0.1248:0.3567:0.128:0.3905	.	1543	Q86UQ4	ABCAD_HUMAN	M	1543	ENSP00000411096:I1543M	.	I	+	3	3	ABCA13	48284438	0.002000	0.14202	0.652000	0.29579	0.491000	0.33493	-0.301000	0.08232	-0.265000	0.09352	0.460000	0.39030	ATT		0.299	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		6	56	0	0	0	1	0	6	56				
PPP2R2C	5522	broad.mit.edu	37	4	6380248	6380248	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr4:6380248G>A	ENST00000382599.4	-	3	436	c.220C>T	c.(220-222)Cag>Tag	p.Q74*	PPP2R2C_ENST00000335585.5_Nonsense_Mutation_p.Q74*|PPP2R2C_ENST00000515571.1_Nonsense_Mutation_p.Q57*|PPP2R2C_ENST00000506140.1_Nonsense_Mutation_p.Q67*|PPP2R2C_ENST00000507294.1_Nonsense_Mutation_p.Q67*|PPP2R2C_ENST00000314348.8_Intron			Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	74					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						TCGTGGCTCTGGAAAGTGCTG	0.577																																						ENST00000335585.5																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						c.(220-222)Cag>Tag		protein phosphatase 2, regulatory subunit B, gamma							141.0	133.0	136.0					4																	6380248		2203	4300	6503	SO:0001587	stop_gained	5522				signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity	g.chr4:6380248G>A	AF086924	CCDS3388.1, CCDS56304.1, CCDS56305.1, CCDS3387.1	4p16.1	2013-01-10	2010-04-14		ENSG00000074211	ENSG00000074211	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9306	protein-coding gene	gene with protein product	"""PP2A subunit B isoform gamma"""	605997	"""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), gamma isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, gamma isoform"""			10574460, 10945473	Standard	NM_020416		Approved	PR52, IMYPNO, MGC33570, PR55G	uc003gja.3	Q9Y2T4	OTTHUMG00000090445	ENST00000382599.4:c.220C>T	4.37:g.6380248G>A	ENSP00000372042:p.Gln74*					PPP2R2C_ENST00000506140.1_Nonsense_Mutation_p.Q67*|PPP2R2C_ENST00000314348.8_Intron|PPP2R2C_ENST00000515571.1_Nonsense_Mutation_p.Q57*|PPP2R2C_ENST00000507294.1_Nonsense_Mutation_p.Q67*|PPP2R2C_ENST00000382599.4_Nonsense_Mutation_p.Q74*	p.Q74*	NM_181876.2	NP_870991.1	Q9Y2T4	2ABG_HUMAN			3	243	-			74					A8MSY7|B7Z3Y1|Q7Z4V7|Q8NEC4|Q9H3G7	Nonsense_Mutation	SNP	ENST00000382599.4	37	c.220C>T		.	.	.	.	.	.	.	.	.	.	G	37	6.321095	0.97471	.	.	ENSG00000074211	ENST00000335585;ENST00000506140;ENST00000515571;ENST00000382599;ENST00000507294	.	.	.	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-62.0485	17.0219	0.86436	0.0:0.0:1.0:0.0	.	.	.	.	X	74;67;57;74;67	.	ENSP00000335083:Q74X	Q	-	1	0	PPP2R2C	6431149	1.000000	0.71417	1.000000	0.80357	0.452000	0.32318	8.870000	0.92336	2.576000	0.86940	0.313000	0.20887	CAG		0.577	PPP2R2C-001	NOVEL	overlapping_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206889.2	NM_181876		4	140	0	0	0	1	0	4	140				
GABRA3	2556	broad.mit.edu	37	X	151336862	151336862	+	Silent	SNP	C	C	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:151336862C>T	ENST00000370314.4	-	10	1555	c.1317G>A	c.(1315-1317)gtG>gtA	p.V439V	RP11-329E24.6_ENST00000453915.1_RNA|GABRA3_ENST00000535043.1_Silent_p.V439V	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	439					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				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)|Zolpidem(DB00425)|Zopiclone(DB01198)	GGCTGTCCTGCACGTAGGTGG	0.522																																					NSCLC(142;2578 2613 10251 16743)	ENST00000370314.4																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37						c.(1315-1317)gtG>gtA		gamma-aminobutyric acid (GABA) A receptor, alpha 3	Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						293.0	230.0	251.0					X																	151336862		2203	4300	6503	SO:0001819	synonymous_variant	2556				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|protein binding	g.chrX:151336862C>T		CCDS14706.1	Xq28	2012-06-22			ENSG00000011677	ENSG00000011677		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4077	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 3"""	305660					Standard	NM_000808		Approved		uc010ntk.1	P34903	OTTHUMG00000024183	ENST00000370314.4:c.1317G>A	X.37:g.151336862C>T						GABRA3_ENST00000535043.1_Silent_p.V439V|RP11-329E24.6_ENST00000453915.1_RNA|GABRA3_ENST00000370311.1_Silent_p.V439V	p.V439V	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN			10	1555	-	Acute lymphoblastic leukemia(192;6.56e-05)		439					Q8TAF9	Silent	SNP	ENST00000370314.4	37	c.1317G>A	CCDS14706.1																																																																																				0.522	GABRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060921.1	NM_000808		80	203	0	0	0	1	0	80	203				
TBP	6908	broad.mit.edu	37	6	170871082	170871082	+	Silent	SNP	G	G	A	rs548097837	byFrequency	TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr6:170871082G>A	ENST00000392092.2	+	3	537	c.258G>A	c.(256-258)caG>caA	p.Q86Q	TBP_ENST00000540980.1_Silent_p.Q66Q|TBP_ENST00000230354.6_Silent_p.Q86Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	86	Poly-Gln.				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)	p.Q86Q(2)		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)		agcagcagcagcagcagcagc	0.612													G|||	15	0.00299521	0.0023	0.0014	5008	,	,		13520	0.0		0.004	False		,,,				2504	0.0072					ENST00000392092.2																			2	Substitution - coding silent(2)	p.Q86Q(2)	lung(1)|central_nervous_system(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(256-258)caG>caA		TATA box binding protein							14.0	20.0	18.0					6																	170871082		1927	3773	5700	SO:0001819	synonymous_variant	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.chr6:170871082G>A	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.258G>A	6.37:g.170871082G>A						TBP_ENST00000540980.1_Silent_p.Q66Q|TBP_ENST00000230354.6_Silent_p.Q86Q	p.Q86Q	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)	3	537	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	86			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.258G>A	CCDS5315.1																																																																																				0.612	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		3	23	0	0	0	1	0	3	23				
GDPD2	54857	broad.mit.edu	37	X	69652260	69652260	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:69652260G>A	ENST00000374382.3	+	13	1662	c.1411G>A	c.(1411-1413)Gac>Aac	p.D471N	GDPD2_ENST00000536730.1_Missense_Mutation_p.D392N|GDPD2_ENST00000538649.1_Missense_Mutation_p.D392N|GDPD2_ENST00000472623.1_3'UTR|GDPD2_ENST00000453994.2_Missense_Mutation_p.D522N	NM_017711.3	NP_060181.2	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	471	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol inositolphosphodiesterase activity (GO:0047394)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					CACCACCAACGACTGCCAGCT	0.512																																						ENST00000453994.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22						c.(1564-1566)Gac>Aac		glycerophosphodiester phosphodiesterase domain containing 2							177.0	141.0	153.0					X																	69652260		2203	4300	6503	SO:0001583	missense	54857				glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding	g.chrX:69652260G>A	AK000214	CCDS14402.1, CCDS55437.1, CCDS55438.1	Xq13.1	2011-01-25			ENSG00000130055	ENSG00000130055			25974	protein-coding gene	gene with protein product	"""osteoblast differentiation promoting factor"""					12975309	Standard	NM_017711		Approved	OBDPF, FLJ20207, GDE3	uc011mpk.2	Q9HCC8	OTTHUMG00000021776	ENST00000374382.3:c.1411G>A	X.37:g.69652260G>A	ENSP00000363503:p.Asp471Asn					GDPD2_ENST00000538649.1_Missense_Mutation_p.D392N|GDPD2_ENST00000472623.1_3'UTR|GDPD2_ENST00000536730.1_Missense_Mutation_p.D392N|GDPD2_ENST00000374382.3_Missense_Mutation_p.D471N	p.D522N	NM_001171192.1	NP_001164663.1	Q9HCC8	GDPD2_HUMAN			14	1925	+	Renal(35;0.156)		471					B4DRH4|B4DVC9|Q9NXJ6	Missense_Mutation	SNP	ENST00000374382.3	37	c.1564G>A	CCDS14402.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.724991	0.48833	.	.	ENSG00000130055	ENST00000453994;ENST00000536730;ENST00000538649;ENST00000374382	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	4.77	4.77	0.60923	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.193007	0.45867	D	0.000340	T	0.27866	0.0686	N	0.04994	-0.135	0.31017	N	0.718534	P;P	0.52692	0.955;0.866	B;B	0.41440	0.357;0.15	T	0.14671	-1.0464	9	.	.	.	-10.4626	15.4956	0.75646	0.0:0.0:1.0:0.0	.	522;471	B4DVC9;Q9HCC8	.;GDPD2_HUMAN	N	522;392;392;471	ENSP00000414019:D522N;ENSP00000445982:D392N;ENSP00000444601:D392N;ENSP00000363503:D471N	.	D	+	1	0	GDPD2	69568985	1.000000	0.71417	0.943000	0.38184	0.988000	0.76386	3.137000	0.50562	2.214000	0.71695	0.468000	0.43344	GAC		0.512	GDPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057070.1	NM_017711		49	106	0	0	0	1	0	49	106				
AFF2	2334	broad.mit.edu	37	X	148048318	148048318	+	Splice_Site	SNP	A	A	C			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:148048318A>C	ENST00000370460.2	+	14	3392		c.e14-1		AFF2_ENST00000342251.3_Splice_Site|AFF2_ENST00000370457.5_Splice_Site|AFF2_ENST00000286437.5_Splice_Site	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2						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)					CCTTTTTCCCAGGAGGGAGAC	0.443																																						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.e14-1		AF4/FMR2 family, member 2							123.0	107.0	112.0					X																	148048318		2203	4300	6503	SO:0001630	splice_region_variant	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148048318A>C	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.2914-1A>C	X.37:g.148048318A>C						AFF2_ENST00000342251.3_Splice_Site|AFF2_ENST00000370457.5_Splice_Site|AFF2_ENST00000286437.5_Splice_Site		NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN			14	3392	+	Acute lymphoblastic leukemia(192;6.56e-05)							A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Splice_Site	SNP	ENST00000370460.2	37		CCDS14684.1	.	.	.	.	.	.	.	.	.	.	A	13.55	2.270344	0.40194	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	.	.	.	4.69	4.69	0.59074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.9368	0.41556	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AFF2	147856012	1.000000	0.71417	1.000000	0.80357	0.549000	0.35272	3.926000	0.56491	1.806000	0.52798	0.417000	0.27973	.		0.443	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025	Intron	5	155	0	0	0	1	0	5	155				
TLN2	83660	broad.mit.edu	37	15	63042617	63042617	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr15:63042617T>C	ENST00000561311.1	+	33	4366	c.4136T>C	c.(4135-4137)tTg>tCg	p.L1379S	TLN2_ENST00000306829.6_Missense_Mutation_p.L1379S			Q9Y4G6	TLN2_HUMAN	talin 2	1379					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						AAGGGGATGTTGGACAATCCT	0.403																																						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.(4135-4137)tTg>tCg		talin 2							261.0	238.0	246.0					15																	63042617		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.chr15:63042617T>C	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.4136T>C	15.37:g.63042617T>C	ENSP00000453508:p.Leu1379Ser					TLN2_ENST00000306829.6_Missense_Mutation_p.L1379S	p.L1379S			Q9Y4G6	TLN2_HUMAN			33	4366	+			1379					A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.4136T>C	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.465955	0.84425	.	.	ENSG00000171914	ENST00000306829	T	0.74421	-0.84	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.87771	0.6261	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89585	0.3823	10	0.87932	D	0	-12.5922	16.3421	0.83085	0.0:0.0:0.0:1.0	.	1379	Q9Y4G6	TLN2_HUMAN	S	1379	ENSP00000303476:L1379S	ENSP00000303476:L1379S	L	+	2	0	TLN2	60829909	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.997000	0.88414	2.261000	0.74972	0.533000	0.62120	TTG		0.403	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			3	127	0	0	0	1	0	3	127				
REPS1	85021	broad.mit.edu	37	6	139266690	139266690	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr6:139266690delT	ENST00000450536.2	-	3	996	c.422delA	c.(421-423)aagfs	p.K141fs	REPS1_ENST00000409812.2_Frame_Shift_Del_p.K141fs|REPS1_ENST00000415951.2_Frame_Shift_Del_p.K141fs|REPS1_ENST00000367663.4_Frame_Shift_Del_p.K141fs|REPS1_ENST00000531675.1_5'Flank|REPS1_ENST00000258062.5_Frame_Shift_Del_p.K141fs			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	141					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)		TACGGATCCCTTTTTCACTTG	0.478																																						ENST00000450536.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19						c.(421-423)agfs		RALBP1 associated Eps domain containing 1							196.0	180.0	186.0					6																	139266690		2203	4300	6503	SO:0001589	frameshift_variant	85021					coated pit|plasma membrane	calcium ion binding|SH3 domain binding	g.chr6:139266690delT		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.422delA	6.37:g.139266690delT	ENSP00000392065:p.Lys141fs					REPS1_ENST00000415951.2_Frame_Shift_Del_p.K141fs|REPS1_ENST00000367663.4_Frame_Shift_Del_p.K141fs|REPS1_ENST00000258062.5_Frame_Shift_Del_p.K141fs|REPS1_ENST00000409812.2_Frame_Shift_Del_p.K141fs	p.K141fs			Q96D71	REPS1_HUMAN		GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)	3	996	-			141					B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Frame_Shift_Del	DEL	ENST00000450536.2	37	c.422delA																																																																																					0.478	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000042447.3			8	327						8	327	---	---	---	---
GRM1	2911	broad.mit.edu	37	6	146350671	146350672	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr6:146350671_146350672insT	ENST00000282753.1	+	1	253_254	c.18_19insT	c.(19-21)tttfs	p.F7fs	GRM1_ENST00000492807.2_Frame_Shift_Ins_p.F7fs|GRM1_ENST00000361719.2_Frame_Shift_Ins_p.F7fs|GRM1_ENST00000355289.4_Frame_Shift_Ins_p.F7fs|GRM1_ENST00000392299.2_Frame_Shift_Ins_p.F7fs|GRM1_ENST00000507907.1_Frame_Shift_Ins_p.F7fs			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	7					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)		GGCTCCTTTTGTTTTTTTTCCC	0.644																																						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.(16-21)ttttttfs		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)		,	13,4249		0,13,2118					,	5.4	0.9			109	6,8248		0,6,4121	no	frameshift,frameshift	GRM1	NM_001114329.1,NM_000838.3	,	0,19,6239	A1A1,A1R,RR		0.0727,0.305,0.1518	,	,		19,12497				SO:0001589	frameshift_variant	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146350671_146350672insT	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.26dupT	6.37:g.146350679_146350679dupT	ENSP00000282753:p.Phe7fs					GRM1_ENST00000282753.1_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000355289.4_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000507907.1_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000492807.2_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000361719.2_Frame_Shift_Ins_p.FF6fs	p.FF6fs			Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	2	488_489	+		Ovarian(120;0.0387)	6					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Frame_Shift_Ins	INS	ENST00000282753.1	37	c.18_19insT	CCDS5209.1																																																																																				0.644	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		7	154						7	154	---	---	---	---
PTPRZ1	5803	broad.mit.edu	37	7	121679632	121679635	+	Frame_Shift_Del	DEL	AAAT	AAAT	-			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr7:121679632_121679635delAAAT	ENST00000393386.2	+	20	6038_6041	c.5627_5630delAAAT	c.(5626-5631)aaaatafs	p.KI1876fs	PTPRZ1_ENST00000449182.1_Frame_Shift_Del_p.KI1009fs	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1876	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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						AGAAACACAAAAATAAAAAAGGTG	0.382																																						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.(5626-5631)aafs		protein tyrosine phosphatase, receptor-type, Z polypeptide 1																																				SO:0001589	frameshift_variant	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121679632_121679635delAAAT	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.5627_5630delAAAT	7.37:g.121679632_121679635delAAAT	ENSP00000377047:p.Lys1876fs					PTPRZ1_ENST00000449182.1_Frame_Shift_Del_p.KI1009fs	p.KI1876fs	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			20	6038_6041	+			1876			Tyrosine-protein phosphatase 1.		A4D0W5|C9JFM0|O76043|Q9UDR6	Frame_Shift_Del	DEL	ENST00000393386.2	37	c.5627_5630delAAAT	CCDS34740.1																																																																																				0.382	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		8	45						8	45	---	---	---	---
OR4A16	81327	broad.mit.edu	37	11	55110739	55110740	+	Frame_Shift_Ins	INS	-	-	A	rs77509752|rs368036675|rs78513473	byFrequency	TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr11:55110739_55110740insA	ENST00000314721.2	+	1	113_114	c.63_64insA	c.(64-66)aaafs	p.K22fs		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V21V(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						ATCCTGATGTGAAAAAAACATT	0.416																																						ENST00000314721.2																			1	Substitution - coding silent(1)	p.V21V(1)	lung(1)	NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						c.(61-66)gtaaaafs		olfactory receptor, family 4, subfamily A, member 16																																				SO:0001589	frameshift_variant	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55110739_55110740insA	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.70dupA	11.37:g.55110746_55110746dupA	ENSP00000325128:p.Lys22fs						p.VK21fs	NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN			1	113_114	+			21					Q6IFL3	Frame_Shift_Ins	INS	ENST00000314721.2	37	c.63_64insA	CCDS31499.1																																																																																				0.416	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		18	62						18	62	---	---	---	---
CSRP2	1466	broad.mit.edu	37	12	77253345	77253347	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr12:77253345_77253347delCTT	ENST00000311083.5	-	5	608_610	c.485_487delAAG	c.(484-489)gaaggt>ggt	p.E162del	CSRP2_ENST00000546966.1_In_Frame_Del_p.E162del|CSRP2_ENST00000547435.1_In_Frame_Del_p.E162del|CSRP2_ENST00000552330.1_In_Frame_Del_p.E212del	NM_001321.1	NP_001312.1	Q16527	CSRP2_HUMAN	cysteine and glycine-rich protein 2	162	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			kidney(1)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)	8						TAGATTTCACCTTCTTTTTCAGT	0.374																																						ENST00000311083.5																			0				kidney(1)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)	8						c.(484-489)ggt>g		cysteine and glycine-rich protein 2																																				SO:0001651	inframe_deletion	1466				multicellular organismal development	nucleus	zinc ion binding	g.chr12:77253345_77253347delCTT	BC000992	CCDS9015.1	12q21.1	2005-10-30				ENSG00000175183			2470	protein-coding gene	gene with protein product		601871				7499425, 9286703	Standard	XM_006719258		Approved	SmLIM, CRP2, LMO5	uc001syl.1	Q16527		ENST00000311083.5:c.485_487delAAG	12.37:g.77253348_77253350delCTT	ENSP00000310901:p.Glu162del					CSRP2_ENST00000547435.1_In_Frame_Del_p.EG162del|CSRP2_ENST00000546966.1_In_Frame_Del_p.EG162del|CSRP2_ENST00000552330.1_In_Frame_Del_p.EG212del	p.EG162del	NM_001321.1	NP_001312.1	Q16527	CSRP2_HUMAN			5	608_610	-			162			LIM zinc-binding 2.		Q93030	In_Frame_Del	DEL	ENST00000311083.5	37	c.485_487delAAG	CCDS9015.1																																																																																				0.374	CSRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406572.1	NM_001321		9	25						9	25	---	---	---	---
SRRM2	23524	broad.mit.edu	37	16	2819161	2819163	+	In_Frame_Del	DEL	TCT	TCT	-	rs149101693	byFrequency	TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr16:2819161_2819163delTCT	ENST00000301740.8	+	12	8446_8448	c.7897_7899delTCT	c.(7897-7899)tctdel	p.S2648del	AC092117.2_ENST00000581119.1_RNA|SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2648	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						ctcctcttcctcttcttcttctt	0.581																																						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.(7897-7899)del		serine/arginine repetitive matrix 2																																				SO:0001651	inframe_deletion	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2819161_2819163delTCT	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.7897_7899delTCT	16.37:g.2819170_2819172delTCT	ENSP00000301740:p.Ser2648del					SRRM2_ENST00000574593.1_3'UTR	p.S2648del	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			12	8446_8448	+			2648			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	In_Frame_Del	DEL	ENST00000301740.8	37	c.7897_7899delTCT	CCDS32373.1																																																																																				0.581	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			16	48						16	48	---	---	---	---
CTD-2377D24.8	0	broad.mit.edu	37	17	46777522	46777524	+	lincRNA	DEL	GGA	GGA	-			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr17:46777522_46777524delGGA	ENST00000575202.1	+	0	51																											ggaggaagggggaggaggaggag	0.537																																						ENST00000575202.1																			0																																																			0							g.chr17:46777522_46777524delGGA																													17.37:g.46777531_46777533delGGA														0	51	+									RNA	DEL	ENST00000575202.1	37																																																																																						0.537	CTD-2377D24.8-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000440736.1			2	4						2	4	---	---	---	---
KIZ-AS1	101929591	broad.mit.edu	37	20	21143813	21143814	+	RNA	INS	-	-	T	rs536341837|rs371455437		TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr20:21143813_21143814insT	ENST00000591761.1	-	0	5051				PLK1S1_ENST00000457464.1_RNA|RP5-872K7.7_ENST00000425746.2_RNA																							AAGCCATTCAATTTTTTTTTTC	0.371																																						ENST00000591761.1																			0																																																			0							g.chr20:21143813_21143814insT																													20.37:g.21143823_21143823dupT						PLK1S1_ENST00000457464.1_RNA								0	5051	-									RNA	INS	ENST00000591761.1	37																																																																																						0.371	RP4-777D9.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078258.2			9	91						9	91	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76939638	76939639	+	Frame_Shift_Ins	INS	-	-	T	rs371831155		TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:76939638_76939639insT	ENST00000373344.5	-	9	1323_1324	c.1109_1110insA	c.(1108-1110)tatfs	p.Y370fs	ATRX_ENST00000395603.3_Frame_Shift_Ins_p.Y332fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	370					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						AAAATTTAACATAACTGGAGTT	0.371			"""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.(1108-1110)tgtfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_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:76939638_76939639insT	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.1110dupA	X.37:g.76939639_76939639dupT	ENSP00000362441:p.Tyr370fs					ATRX_ENST00000395603.3_Frame_Shift_Ins_p.C332fs|ATRX_ENST00000480283.1_5'UTR	p.C370fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	1323_1324	-			370					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Ins	INS	ENST00000373344.5	37	c.1109_1110insA	CCDS14434.1																																																																																				0.371	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		64	130						64	130	---	---	---	---
