#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
MROH2B	133558	broad.mit.edu	37	5	41047840	41047840	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr5:41047840C>A	ENST00000399564.4	-	17	2161	c.1711G>T	c.(1711-1713)Gaa>Taa	p.E571*	MROH2B_ENST00000506092.2_Nonsense_Mutation_p.E126*	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	571																	AGCATGGTTTCCCATAGAACG	0.383																																						ENST00000399564.4																			0											c.(1711-1713)Gaa>Taa		maestro heat-like repeat family member 2B							62.0	57.0	58.0					5																	41047840		1827	4084	5911	SO:0001587	stop_gained	133558							g.chr5:41047840C>A		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.1711G>T	5.37:g.41047840C>A	ENSP00000382476:p.Glu571*					MROH2B_ENST00000506092.2_Nonsense_Mutation_p.E126*	p.E571*	NM_173489.4	NP_775760.3					17	2161	-								Q68DM1|Q7Z4U4|Q8N7X3	Nonsense_Mutation	SNP	ENST00000399564.4	37	c.1711G>T	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	38	6.974224	0.97975	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	.	.	.	5.75	5.75	0.90469	.	1.186220	0.06008	N	0.648993	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	15.4434	0.75208	0.0:1.0:0.0:0.0	.	.	.	.	X	126;275;571	.	ENSP00000296803:E275X	E	-	1	0	HEATR7B2	41083597	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.549000	0.53681	2.716000	0.92895	0.655000	0.94253	GAA		0.383	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		6	7	1	0	0.0293803	1	0.0297499	6	7				
CACNA1S	779	broad.mit.edu	37	1	201047050	201047050	+	Missense_Mutation	SNP	C	C	T	rs557195329		TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr1:201047050C>T	ENST00000362061.3	-	11	1802	c.1576G>A	c.(1576-1578)Gtg>Atg	p.V526M	CACNA1S_ENST00000367338.3_Missense_Mutation_p.V526M	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	526					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CAGCGGAGCACGGAGATGCCC	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		18060	0.001		0.0	False		,,,				2504	0.0					ENST00000362061.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(1576-1578)Gtg>Atg		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						66.0	53.0	58.0					1																	201047050		2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201047050C>T	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1576G>A	1.37:g.201047050C>T	ENSP00000355192:p.Val526Met					CACNA1S_ENST00000367338.3_Missense_Mutation_p.V526M	p.V526M	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			11	1802	-			526					A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.1576G>A	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181093	0.78677	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.98807	-5.15;-5.15	4.67	4.67	0.58626	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99296	0.9754	M	0.91612	3.225	0.51482	D	0.999922	D	0.89917	1.0	D	0.80764	0.994	D	0.98945	1.0792	10	0.72032	D	0.01	.	17.9008	0.88902	0.0:1.0:0.0:0.0	.	526	Q13698	CAC1S_HUMAN	M	526	ENSP00000355192:V526M;ENSP00000356307:V526M	ENSP00000355192:V526M	V	-	1	0	CACNA1S	199313673	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.789000	0.85783	2.296000	0.77279	0.637000	0.83480	GTG		0.632	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		27	48	0	0	0	1	0	27	48				
EPHA5	2044	broad.mit.edu	37	4	66197808	66197808	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr4:66197808G>A	ENST00000273854.3	-	17	3491	c.2891C>T	c.(2890-2892)tCt>tTt	p.S964F	EPHA5_ENST00000511294.1_Missense_Mutation_p.S965F|EPHA5_ENST00000432638.2_Missense_Mutation_p.S801F|EPHA5_ENST00000354839.4_Missense_Mutation_p.S942F	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	964					axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)	p.S964Y(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GTAGGCCCCAGATCCTAGTGG	0.358										TSP Lung(17;0.13)																												ENST00000273854.3																			1	Substitution - Missense(1)	p.S964Y(1)	kidney(1)	autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						c.(2890-2892)tCt>tTt		EPH receptor A5							72.0	66.0	68.0					4																	66197808		2203	4300	6503	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66197808G>A	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2891C>T	4.37:g.66197808G>A	ENSP00000273854:p.Ser964Phe	TSP Lung(17;0.13)				EPHA5_ENST00000354839.4_Missense_Mutation_p.S942F|EPHA5_ENST00000511294.1_Missense_Mutation_p.S965F|EPHA5_ENST00000432638.2_Missense_Mutation_p.S801F	p.S964F	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN			17	3491	-			964					Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.2891C>T	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	G	2.269	-0.367342	0.05069	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;D	0.82526	-0.64;-0.72;-0.6;-1.62	5.38	3.58	0.41010	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);	0.458728	0.19924	N	0.103035	T	0.64864	0.2637	N	0.02685	-0.53	0.32468	N	0.543227	B;B;B;P	0.34800	0.0;0.0;0.0;0.469	B;B;B;B	0.41860	0.005;0.004;0.002;0.368	T	0.64546	-0.6382	10	0.05959	T	0.93	.	12.2665	0.54681	0.0:0.391:0.4974:0.1116	.	943;965;942;964	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	F	964;801;942;965	ENSP00000273854:S964F;ENSP00000389208:S801F;ENSP00000346899:S942F;ENSP00000427638:S965F	ENSP00000273854:S964F	S	-	2	0	EPHA5	65880403	0.994000	0.37717	0.975000	0.42487	0.978000	0.69477	0.943000	0.29030	0.680000	0.31366	0.491000	0.48974	TCT		0.358	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		31	17	0	0	0	1	0	31	17				
RNF19A	25897	broad.mit.edu	37	8	101300145	101300145	+	Silent	SNP	G	G	A			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr8:101300145G>A	ENST00000519449.1	-	3	574	c.258C>T	c.(256-258)ggC>ggT	p.G86G	RNF19A_ENST00000341084.2_Silent_p.G86G	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	86					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			CATCCACCCCGCCATTTAGCT	0.373																																						ENST00000519449.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30						c.(256-258)ggC>ggT		ring finger protein 19A, RBR E3 ubiquitin protein ligase							144.0	138.0	140.0					8																	101300145		2203	4300	6503	SO:0001819	synonymous_variant	25897				microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding	g.chr8:101300145G>A	AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"""RING-type (C3HC4) zinc fingers"""	13432	protein-coding gene	gene with protein product		607119	"""ring finger protein 19"", ""ring finger protein 19A"", ""ring finger protein 19A, E3 ubiquitin protein ligase"""	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.258C>T	8.37:g.101300145G>A						RNF19A_ENST00000341084.2_Silent_p.G86G	p.G86G	NM_015435.3	NP_056250.3	Q9NV58	RN19A_HUMAN	Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)		3	574	-	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		86					A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Silent	SNP	ENST00000519449.1	37	c.258C>T	CCDS6286.1																																																																																				0.373	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380004.1	NM_015435		70	137	0	0	0	1	0	70	137				
REV3L	5980	broad.mit.edu	37	6	111701419	111701419	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr6:111701419T>C	ENST00000358835.3	-	12	1674	c.1220A>G	c.(1219-1221)gAc>gGc	p.D407G	REV3L_ENST00000368805.1_Missense_Mutation_p.D407G|REV3L_ENST00000368802.3_Missense_Mutation_p.D407G|REV3L_ENST00000435970.1_Missense_Mutation_p.D329G			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	407					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AGGACTACTGTCCACTATAAA	0.433								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(985-987)gAc>gGc	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							100.0	92.0	95.0					6																	111701419		2203	4300	6503	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111701419T>C	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.1220A>G	6.37:g.111701419T>C	ENSP00000351697:p.Asp407Gly					REV3L_ENST00000368802.3_Missense_Mutation_p.D407G|REV3L_ENST00000358835.3_Missense_Mutation_p.D407G|REV3L_ENST00000368805.1_Missense_Mutation_p.D407G	p.D329G			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	13	1802	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	407					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.986A>G	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	T	13.97	2.395746	0.42512	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	5.71	0.191	0.15130	Ribonuclease H-like (1);	0.492161	0.21078	N	0.080540	T	0.06735	0.0172	L	0.29908	0.895	0.28062	N	0.932944	B	0.06786	0.001	B	0.01281	0.0	T	0.33879	-0.9851	10	0.36615	T	0.2	-10.7411	6.4868	0.22093	0.0:0.2939:0.1182:0.5879	.	407	O60673	DPOLZ_HUMAN	G	407;407;407;329	ENSP00000357792:D407G;ENSP00000357795:D407G;ENSP00000351697:D407G;ENSP00000402003:D329G	ENSP00000351697:D407G	D	-	2	0	REV3L	111808112	1.000000	0.71417	0.997000	0.53966	0.819000	0.46315	2.003000	0.40844	-0.182000	0.10602	0.533000	0.62120	GAC		0.433	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		47	70	0	0	0	1	0	47	70				
PRDM9	56979	broad.mit.edu	37	5	23527778	23527778	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr5:23527778G>A	ENST00000296682.3	+	11	2763	c.2581G>A	c.(2581-2583)Gtc>Atc	p.V861I		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	861					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GAAGCCCTACGTCTGCAGGGA	0.592										HNSCC(3;0.000094)																												ENST00000296682.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(2581-2583)Gtc>Atc		PR domain containing 9							72.0	80.0	77.0					5																	23527778		2188	4299	6487	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23527778G>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2581G>A	5.37:g.23527778G>A	ENSP00000296682:p.Val861Ile	HNSCC(3;0.000094)					p.V861I	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			11	2763	+			861					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.2581G>A	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	3.787	-0.044546	0.07452	.	.	ENSG00000164256	ENST00000296682	T	0.18810	2.19	2.67	0.738	0.18319	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17874	0.0429	N	0.25201	0.72	0.09310	N	1	D	0.61080	0.989	P	0.52793	0.709	T	0.11494	-1.0585	9	0.41790	T	0.15	-0.2631	3.6387	0.08158	0.132:0.0:0.4389:0.4291	.	861	Q9NQV7	PRDM9_HUMAN	I	861	ENSP00000296682:V861I	ENSP00000296682:V861I	V	+	1	0	PRDM9	23563535	0.000000	0.05858	0.645000	0.29479	0.274000	0.26718	-5.107000	0.00151	0.196000	0.20367	0.472000	0.43445	GTC		0.592	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		54	103	0	0	0	1	0	54	103				
BAGE2	85319	broad.mit.edu	37	21	11039233	11039233	+	RNA	SNP	C	C	A			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr21:11039233C>A	ENST00000470054.1	-	0	970							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTTTGGATACCACTGTTTTAG	0.403																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11039233C>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11039233C>A												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	970	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.403	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		33	241	1	0	1.30897e-18	1	1.52713e-18	33	241				
WNK3	65267	broad.mit.edu	37	X	54259280	54259280	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chrX:54259280T>A	ENST00000375159.2	-	20	4801	c.4802A>T	c.(4801-4803)cAg>cTg	p.Q1601L	WNK3_ENST00000354646.2_Missense_Mutation_p.Q1601L|WNK3_ENST00000375169.3_Missense_Mutation_p.Q1554L			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1601					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TGTCAAGGACTGGGGGCGGCT	0.383																																						ENST00000354646.2																			0				autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(4801-4803)cAg>cTg		WNK lysine deficient protein kinase 3							120.0	111.0	114.0					X																	54259280		2203	4300	6503	SO:0001583	missense	65267				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	g.chrX:54259280T>A	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.4802A>T	X.37:g.54259280T>A	ENSP00000364301:p.Gln1601Leu					WNK3_ENST00000375159.2_Missense_Mutation_p.Q1601L|WNK3_ENST00000375169.3_Missense_Mutation_p.Q1554L	p.Q1601L	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN			21	5240	-			1554					B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	c.4802A>T	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.143901	0.77888	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.47177	0.85;0.85;0.85	5.55	5.55	0.83447	.	0.000000	0.53938	D	0.000055	T	0.65059	0.2655	M	0.65975	2.015	0.36432	D	0.864982	D;D	0.67145	0.996;0.993	D;D	0.77557	0.99;0.977	T	0.70124	-0.4958	10	0.32370	T	0.25	-7.2362	13.7796	0.63075	0.0:0.0:0.0:1.0	.	1554;1601	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	L	1554;1601;1601	ENSP00000364312:Q1554L;ENSP00000346667:Q1601L;ENSP00000364301:Q1601L	ENSP00000346667:Q1601L	Q	-	2	0	WNK3	54276005	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.977000	0.63792	1.967000	0.57214	0.481000	0.45027	CAG		0.383	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		49	9	0	0	0	1	0	49	9				
SLC7A9	11136	broad.mit.edu	37	19	33355054	33355054	+	Silent	SNP	C	C	T			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr19:33355054C>T	ENST00000023064.4	-	4	617	c.426G>A	c.(424-426)gtG>gtA	p.V142V	SLC7A9_ENST00000590341.1_Silent_p.V142V|RN7SKP22_ENST00000365097.1_RNA|SLC7A9_ENST00000587772.1_Silent_p.V142V	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	142			V -> A (in dbSNP:rs12150889).		amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	GCTTGCAGCCCACATAGAAGG	0.587																																					GBM(181;1335 2108 9644 44178 46689)	ENST00000023064.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32						c.(424-426)gtG>gtA		solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	L-Cystine(DB00138)						94.0	75.0	81.0					19																	33355054		2203	4300	6503	SO:0001819	synonymous_variant	11136				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding	g.chr19:33355054C>T	AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"""Solute carriers"""	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.426G>A	19.37:g.33355054C>T						SLC7A9_ENST00000587772.1_Silent_p.V142V|SLC7A9_ENST00000590341.1_Silent_p.V142V	p.V142V	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN			4	617	-	Esophageal squamous(110;0.137)		142		V -> A (in dbSNP:rs12150889).			B2R9A6	Silent	SNP	ENST00000023064.4	37	c.426G>A	CCDS12425.1																																																																																				0.587	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450585.1			16	19	0	0	0	1	0	16	19				
EIF2AK3	9451	broad.mit.edu	37	2	88926546	88926546	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr2:88926546C>T	ENST00000303236.3	-	1	548	c.247G>A	c.(247-249)Gga>Aga	p.G83R	AC062029.1_ENST00000453008.2_RNA|EIF2AK3_ENST00000419748.1_5'Flank|AC062029.1_ENST00000606164.1_RNA	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	83					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			ovary(3)	3						TCCTGCTCTCccgcggctgcc	0.726																																					GBM(138;671 1851 16235 39058 45249)	ENST00000303236.3																			0				ovary(3)	3						c.(247-249)Gga>Aga		eukaryotic translation initiation factor 2-alpha kinase 3							9.0	12.0	11.0					2																	88926546		1896	3898	5794	SO:0001583	missense	9451				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	g.chr2:88926546C>T	AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.247G>A	2.37:g.88926546C>T	ENSP00000307235:p.Gly83Arg						p.G83R	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN			1	548	-			83					A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Missense_Mutation	SNP	ENST00000303236.3	37	c.247G>A	CCDS33241.1	.	.	.	.	.	.	.	.	.	.	C	10.89	1.477029	0.26511	.	.	ENSG00000172071	ENST00000303236	T	0.71934	-0.61	3.87	2.02	0.26589	.	0.235594	0.29676	N	0.011485	T	0.61135	0.2323	L	0.51422	1.61	0.09310	N	0.999999	P	0.42039	0.769	B	0.41271	0.352	T	0.55211	-0.8176	10	0.59425	D	0.04	-8.834	5.868	0.18786	0.0:0.7503:0.0:0.2497	.	83	Q9NZJ5	E2AK3_HUMAN	R	83	ENSP00000307235:G83R	ENSP00000307235:G83R	G	-	1	0	EIF2AK3	88707661	0.174000	0.23070	0.039000	0.18376	0.023000	0.10783	0.865000	0.27940	0.396000	0.25283	0.561000	0.74099	GGA		0.726	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	NM_004836		12	13	0	0	0	1	0	12	13				
CFAP61	26074	broad.mit.edu	37	20	20232255	20232255	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr20:20232255A>G	ENST00000245957.5	+	20	2252	c.2176A>G	c.(2176-2178)Aaa>Gaa	p.K726E	C20orf26_ENST00000377309.2_Missense_Mutation_p.K82E|C20orf26_ENST00000389656.3_Missense_Mutation_p.K82E|C20orf26_ENST00000377293.1_Missense_Mutation_p.K82E	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		726										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TTTTAATGATAAAGATTATGC	0.493																																						ENST00000245957.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77						c.(2176-2178)Aaa>Gaa		chromosome 20 open reading frame 26							184.0	162.0	170.0					20																	20232255		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20232255A>G																												ENST00000245957.5:c.2176A>G	20.37:g.20232255A>G	ENSP00000245957:p.Lys726Glu					C20orf26_ENST00000389656.3_Missense_Mutation_p.K82E|C20orf26_ENST00000377293.1_Missense_Mutation_p.K82E|C20orf26_ENST00000377309.2_Missense_Mutation_p.K82E	p.K726E	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	20	2252	+			726					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.2176A>G	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	A	9.621	1.133835	0.21123	.	.	ENSG00000089101	ENST00000343997;ENST00000377309;ENST00000389656;ENST00000389655;ENST00000245957;ENST00000377293	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	6.05	3.81	0.43845	.	0.146463	0.64402	D	0.000009	T	0.14614	0.0353	N	0.19112	0.55	0.30471	N	0.773311	B;B;B	0.13145	0.007;0.004;0.004	B;B;B	0.14578	0.005;0.004;0.011	T	0.21861	-1.0233	10	0.08381	T	0.77	.	5.0249	0.14379	0.6852:0.1771:0.1377:0.0	.	706;82;726	F8W6K4;Q8NHU2-5;Q8NHU2	.;.;CT026_HUMAN	E	666;82;82;706;726;82	ENSP00000366524:K82E;ENSP00000374307:K82E;ENSP00000245957:K726E;ENSP00000366508:K82E	ENSP00000245957:K726E	K	+	1	0	C20orf26	20180255	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.249000	0.51437	1.087000	0.41251	0.528000	0.53228	AAA		0.493	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			89	100	0	0	0	1	0	89	100				
LINC00482	284185	broad.mit.edu	37	17	79278823	79278823	+	lincRNA	SNP	G	G	A			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr17:79278823G>A	ENST00000332012.5	-	0	770					NR_038080.1		Q8N8I6	CQ055_HUMAN	long intergenic non-protein coding RNA 482																		AGGTCCAGGTGAGCAGGGTCC	0.637																																						ENST00000332012.5																			0																				24.0	26.0	25.0					17																	79278823		2003	4162	6165			284185							g.chr17:79278823G>A	AK096740		17q25.3	2012-10-12	2011-09-01	2011-09-01	ENSG00000185168	ENSG00000185168		"""Long non-coding RNAs"""	26816	non-coding RNA	RNA, long non-coding			"""chromosome 17 open reading frame 55"""	C17orf55			Standard	NR_038080		Approved	FLJ39421	uc002kac.1	Q8N8I6			17.37:g.79278823G>A								NR_038080.1						0	770	-									RNA	SNP	ENST00000332012.5	37																																																																																						0.637	LINC00482-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000439605.1	NM_178519		6	16	0	0	0	1	0	6	16				
ZNF532	55205	broad.mit.edu	37	18	56586563	56586563	+	Silent	SNP	G	G	A			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr18:56586563G>A	ENST00000336078.4	+	4	1820	c.1044G>A	c.(1042-1044)ccG>ccA	p.P348P	ZNF532_ENST00000589288.1_Silent_p.P348P|ZNF532_ENST00000591083.1_Silent_p.P348P|ZNF532_ENST00000591230.1_Silent_p.P348P|ZNF532_ENST00000591808.1_Silent_p.P348P	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	348					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P348P(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						AAGGATCCCCGTCCTCTCCCG	0.507																																						ENST00000336078.4																			1	Substitution - coding silent(1)	p.P348P(1)	endometrium(1)	breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						c.(1042-1044)ccG>ccA		zinc finger protein 532							75.0	77.0	76.0					18																	56586563		2203	4300	6503	SO:0001819	synonymous_variant	55205				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:56586563G>A	AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.1044G>A	18.37:g.56586563G>A						ZNF532_ENST00000591230.1_Silent_p.P348P|ZNF532_ENST00000589288.1_Silent_p.P348P|ZNF532_ENST00000591808.1_Silent_p.P348P|ZNF532_ENST00000591083.1_Silent_p.P348P	p.P348P	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN			4	1820	+			348					Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Silent	SNP	ENST00000336078.4	37	c.1044G>A	CCDS11969.1																																																																																				0.507	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	NM_018181		54	26	0	0	0	1	0	54	26				
CNTNAP4	85445	broad.mit.edu	37	16	76573651	76573651	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr16:76573651C>G	ENST00000476707.1	+	19	3404	c.3265C>G	c.(3265-3267)Caa>Gaa	p.Q1089E	CNTNAP4_ENST00000377504.4_Missense_Mutation_p.Q1037E|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.Q1085E|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.Q1013E			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1086	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						AAATAAATATCAAGAGCCTGA	0.343																																						ENST00000307431.8																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						c.(3253-3255)Caa>Gaa		contactin associated protein-like 4							70.0	72.0	71.0					16																	76573651		2006	4226	6232	SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76573651C>G	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.3265C>G	16.37:g.76573651C>G	ENSP00000417628:p.Gln1089Glu					CNTNAP4_ENST00000377504.4_Missense_Mutation_p.Q1037E|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.Q1013E|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.Q1089E	p.Q1085E	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN			21	3638	+			1086			Laminin G-like 4.		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37	c.3253C>G		.	.	.	.	.	.	.	.	.	.	C	10.34	1.323107	0.24080	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.76839	-1.05;-1.05;1.09;1.09	5.03	5.03	0.67393	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.179711	0.26907	N	0.021897	T	0.69824	0.3154	.	.	.	0.23899	N	0.996522	B;B;B	0.30914	0.001;0.003;0.3	B;B;B	0.39339	0.004;0.006;0.297	T	0.53158	-0.8478	9	0.08381	T	0.77	.	18.9171	0.92510	0.0:1.0:0.0:0.0	.	1013;1089;1086	E9PFZ6;E9PDN6;Q9C0A0	.;.;CNTP4_HUMAN	E	1085;1037;1013;1089	ENSP00000306893:Q1085E;ENSP00000439733:Q1037E;ENSP00000418741:Q1013E;ENSP00000417628:Q1089E	ENSP00000306893:Q1085E	Q	+	1	0	CNTNAP4	75131152	0.780000	0.28664	0.994000	0.49952	0.983000	0.72400	1.439000	0.35013	2.771000	0.95319	0.650000	0.86243	CAA		0.343	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		44	45	0	0	0	1	0	44	45				
UNC5B	219699	broad.mit.edu	37	10	73039707	73039707	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr10:73039707G>A	ENST00000335350.6	+	2	625	c.209G>A	c.(208-210)cGc>cAc	p.R70H	UNC5B_ENST00000373192.4_Missense_Mutation_p.R70H	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	70	Ig-like.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CTCCGCTGCCGCGCCTTCCCC	0.627																																						ENST00000335350.6																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						c.(208-210)cGc>cAc		unc-5 homolog B (C. elegans)							79.0	77.0	77.0					10																	73039707		2203	4300	6503	SO:0001583	missense	219699				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		g.chr10:73039707G>A	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"""Immunoglobulin superfamily / I-set domain containing"""	12568	protein-coding gene	gene with protein product		607870	"""unc5 (C.elegans homolog) b"""				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.209G>A	10.37:g.73039707G>A	ENSP00000334329:p.Arg70His					UNC5B_ENST00000373192.4_Missense_Mutation_p.R70H	p.R70H	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN			2	625	+			70			Ig-like.		Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	c.209G>A	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.219813	0.79464	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.23348	1.91;1.91	4.52	3.61	0.41365	Immunoglobulin-like fold (1);	0.059923	0.64402	D	0.000005	T	0.44456	0.1294	M	0.71036	2.16	0.45284	D	0.998287	D;D	0.89917	1.0;0.999	D;P	0.66084	0.941;0.874	T	0.37220	-0.9715	10	0.72032	D	0.01	-13.2281	8.8245	0.35047	0.1725:0.0:0.8275:0.0	.	70;70	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	H	70	ENSP00000334329:R70H;ENSP00000362288:R70H	ENSP00000334329:R70H	R	+	2	0	UNC5B	72709713	0.998000	0.40836	0.972000	0.41901	0.974000	0.67602	2.900000	0.48687	0.882000	0.36016	0.561000	0.74099	CGC		0.627	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		84	70	0	0	0	1	0	84	70				
SLC26A7	115111	broad.mit.edu	37	8	92406045	92406045	+	Silent	SNP	C	C	G			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr8:92406045C>G	ENST00000276609.3	+	17	2036	c.1797C>G	c.(1795-1797)ggC>ggG	p.G599G	SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000523719.1_Silent_p.G599G|SLC26A7_ENST00000309536.2_Silent_p.G599G	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			ACTGTAAAGGCAGGAGTGTGG	0.388																																						ENST00000276609.3																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50						c.(1795-1797)ggC>ggG		solute carrier family 26 (anion exchanger), member 7							209.0	196.0	201.0					8																	92406045		2203	4300	6503	SO:0001819	synonymous_variant	115111					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	g.chr8:92406045C>G	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.1797C>G	8.37:g.92406045C>G						SLC26A7_ENST00000523719.1_Silent_p.G599G|SLC26A7_ENST00000309536.2_Silent_p.G599G|SLC26A7_ENST00000520249.1_3'UTR	p.G599G	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00802)		17	2036	+			599			STAS.			Silent	SNP	ENST00000276609.3	37	c.1797C>G	CCDS6254.1																																																																																				0.388	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1			63	125	0	0	0	1	0	63	125				
RUNX1T1	862	broad.mit.edu	37	8	92982962	92982962	+	Missense_Mutation	SNP	C	C	A	rs143723171		TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr8:92982962C>A	ENST00000523629.1	-	11	1917	c.1463G>T	c.(1462-1464)cGc>cTc	p.R488L	RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R461L|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R451L|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R499L|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R451L|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R451L|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R461L|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R488L	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	488					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GGCGACCGTGCGCTCCATCTT	0.617																																						ENST00000523629.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86						c.(1462-1464)cGc>cTc		runt-related transcription factor 1; translocated to, 1 (cyclin D-related)							80.0	66.0	71.0					8																	92982962		2203	4300	6503	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:92982962C>A	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1463G>T	8.37:g.92982962C>A	ENSP00000428543:p.Arg488Leu					RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R461L|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R451L|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R488L|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R451L|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R499L|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R461L|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R451L	p.R488L	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		11	1917	-			488					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.1463G>T	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	C	36	5.780197	0.96929	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.67599	0.2910	M	0.77820	2.39	0.80722	D	1	D;D;P;D	0.76494	0.957;0.999;0.956;0.999	P;D;P;D	0.71870	0.828;0.975;0.621;0.968	T	0.68957	-0.5272	10	0.62326	D	0.03	-17.0871	19.9981	0.97395	0.0:1.0:0.0:0.0	.	499;451;488;461	E7EPN4;Q7Z4J5;Q06455;Q06455-2	.;.;MTG8_HUMAN;.	L	488;461;488;451;451;451;499;461	ENSP00000428543:R488L;ENSP00000379520:R461L;ENSP00000265814:R488L;ENSP00000353504:R451L;ENSP00000390137:R451L;ENSP00000428742:R451L;ENSP00000402257:R499L;ENSP00000430728:R461L	ENSP00000265814:R488L	R	-	2	0	RUNX1T1	93052138	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.818000	0.86416	2.729000	0.93468	0.655000	0.94253	CGC		0.617	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		24	28	1	0	1.96895e-08	1	2.11334e-08	24	28				
HEBP1	50865	broad.mit.edu	37	12	13154790	13154790	+	5'Flank	SNP	G	G	C	rs1291363	byFrequency	TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr12:13154790G>C	ENST00000014930.4	-	0	0				HEBP1_ENST00000536942.1_5'Flank|RP11-377D9.3_ENST00000543321.1_lincRNA	NM_015987.4	NP_057071.2	Q9NRV9	HEBP1_HUMAN	heme binding protein 1						circadian rhythm (GO:0007623)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	heme binding (GO:0020037)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		CCAACTACCTGATCGTGTCCA	0.607													g|||	2151	0.429513	0.1899	0.4827	5008	,	,		19063	0.378		0.6044	False		,,,				2504	0.589					ENST00000543321.1																			0																																																	SO:0001631	upstream_gene_variant	93164							g.chr12:13154790G>C	AF117615	CCDS31749.1	12p13.2	2014-01-30			ENSG00000013583	ENSG00000013583		"""Endogenous ligands"""	17176	protein-coding gene	gene with protein product		605826				10640688	Standard	NM_015987		Approved	HEBP, HBP	uc001rbd.3	Q9NRV9	OTTHUMG00000168771		12.37:g.13154790G>C	Exception_encountered					HTR7P1_ENST00000535469.1_RNA								0	31	+								A8K1G2|Q9Y5Z5	RNA	SNP	ENST00000014930.4	37		CCDS31749.1																																																																																				0.607	HEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401001.1			3	18	0	0	0	1	0	3	18				
SYNE1	23345	broad.mit.edu	37	6	152651011	152651011	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr6:152651011T>G	ENST00000367255.5	-	78	15410	c.14809A>C	c.(14809-14811)Agc>Cgc	p.S4937R	SYNE1_ENST00000341594.5_Missense_Mutation_p.S4684R|SYNE1_ENST00000265368.4_Missense_Mutation_p.S4937R|SYNE1_ENST00000448038.1_Missense_Mutation_p.S4866R|SYNE1_ENST00000423061.1_Missense_Mutation_p.S4866R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4937					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATTCTCAAGCTGGACTGGACC	0.493										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(14809-14811)Agc>Cgc		spectrin repeat containing, nuclear envelope 1							271.0	261.0	264.0					6																	152651011		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152651011T>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.14809A>C	6.37:g.152651011T>G	ENSP00000356224:p.Ser4937Arg	HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Missense_Mutation_p.S4866R|SYNE1_ENST00000341594.5_Missense_Mutation_p.S4684R|SYNE1_ENST00000265368.4_Missense_Mutation_p.S4937R|SYNE1_ENST00000423061.1_Missense_Mutation_p.S4866R	p.S4937R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	78	15410	-		Ovarian(120;0.0955)	4937					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.14809A>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	9.514	1.106394	0.20632	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	6.03	4.83	0.62350	.	0.074311	0.56097	N	0.000022	T	0.13415	0.0325	L	0.28115	0.83	0.80722	D	1	B;B;B;B	0.12013	0.005;0.003;0.003;0.005	B;B;B;B	0.12156	0.007;0.002;0.002;0.007	T	0.07539	-1.0767	10	0.12430	T	0.62	.	13.2815	0.60216	0.0:0.0:0.1322:0.8678	.	4937;4937;4937;4866	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	R	4937;4866;4937;4866;4684	ENSP00000356224:S4937R;ENSP00000396024:S4866R;ENSP00000265368:S4937R;ENSP00000390975:S4866R;ENSP00000341887:S4684R	ENSP00000265368:S4937R	S	-	1	0	SYNE1	152692704	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.118000	0.41949	1.052000	0.40392	0.533000	0.62120	AGC		0.493	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		82	154	0	0	0	1	0	82	154				
SUN1	23353	broad.mit.edu	37	7	897553	897553	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr7:897553G>A	ENST00000405266.1	+	14	1618	c.1594G>A	c.(1594-1596)Gtg>Atg	p.V532M	SUN1_ENST00000425407.2_Missense_Mutation_p.V412M|SUN1_ENST00000401592.1_Missense_Mutation_p.V495M|SUN1_ENST00000413514.2_Missense_Mutation_p.V293M|SUN1_ENST00000456758.2_Missense_Mutation_p.V684M|SUN1_ENST00000389574.3_Missense_Mutation_p.V412M|SUN1_ENST00000452783.2_Missense_Mutation_p.V392M			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	522					cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)	acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993)				NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTGGCGACACGTGAAGACCGG	0.483																																						ENST00000456758.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(2050-2052)Gtg>Atg		Sad1 and UNC84 domain containing 1							131.0	144.0	140.0					7																	897553		2020	4177	6197	SO:0001583	missense	23353				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding	g.chr7:897553G>A	AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828			18587	protein-coding gene	gene with protein product	"""Sad1 unc-84 domain protein 1"""	607723	"""unc-84 homolog A (C. elegans)"""	UNC84A		11593002	Standard	NM_001130965		Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000405266.1:c.1594G>A	7.37:g.897553G>A	ENSP00000384116:p.Val532Met					SUN1_ENST00000389574.3_Missense_Mutation_p.V412M|SUN1_ENST00000401592.1_Missense_Mutation_p.V495M|SUN1_ENST00000452783.2_Missense_Mutation_p.V392M|SUN1_ENST00000405266.1_Missense_Mutation_p.V532M|SUN1_ENST00000413514.2_Missense_Mutation_p.V293M|SUN1_ENST00000425407.2_Missense_Mutation_p.V412M	p.V684M			O94901	SUN1_HUMAN			19	2050	+			522			SUN.		A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Missense_Mutation	SNP	ENST00000405266.1	37	c.2050G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	8.116|8.116	0.779783|0.779783	0.16120|0.16120	.|.	.|.	ENSG00000164828|ENSG00000164828	ENST00000433212|ENST00000456758;ENST00000389574;ENST00000452783;ENST00000405266;ENST00000401592;ENST00000297445;ENST00000425407;ENST00000429178;ENST00000413514	.|T;T;T;T;T;T;T;T	.|0.23552	.|2.2;2.23;2.23;2.22;2.22;2.23;1.9;1.92	5.15|5.15	-10.3|-10.3	0.00346|0.00346	.|.	.|0.806631	.|0.11754	.|N	.|0.532781	T|T	0.09774|0.09774	0.0240|0.0240	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B;B	.|0.31100	.|0.016;0.135;0.009;0.308;0.003;0.006	.|B;B;B;B;B;B	.|0.20577	.|0.012;0.018;0.002;0.03;0.001;0.007	T|T	0.03761|0.03761	-1.1006|-1.1006	5|10	.|0.37606	.|T	.|0.19	0.8406|0.8406	6.022|6.022	0.19634|0.19634	0.068:0.2884:0.3985:0.2451|0.068:0.2884:0.3985:0.2451	.|.	.|293;392;495;684;522;412	.|E7EP45;E9PDU4;E9PF23;A4D2Q0;O94901;O94901-5	.|.;.;.;.;SUN1_HUMAN;.	H|M	343|684;412;392;532;495;522;412;420;293	.|ENSP00000388743:V684M;ENSP00000374225:V412M;ENSP00000413439:V392M;ENSP00000384116:V532M;ENSP00000384015:V495M;ENSP00000392309:V412M;ENSP00000409909:V420M;ENSP00000389313:V293M	.|ENSP00000297445:V522M	R|V	+|+	2|1	0|0	SUN1|SUN1	864079|864079	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-2.241000|-2.241000	0.01196|0.01196	-3.211000|-3.211000	0.00214|0.00214	-1.742000|-1.742000	0.00685|0.00685	CGT|GTG		0.483	SUN1-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000322566.1	NM_025154		86	197	0	0	0	1	0	86	197				
RUFY3	22902	broad.mit.edu	37	4	71648890	71648890	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr4:71648890C>T	ENST00000226328.4	+	9	1540	c.977C>T	c.(976-978)tCc>tTc	p.S326F	RUFY3_ENST00000536664.1_Missense_Mutation_p.S310F|RUFY3_ENST00000417478.2_Missense_Mutation_p.S386F|RUFY3_ENST00000502653.1_Missense_Mutation_p.S273F|RUFY3_ENST00000381006.3_Missense_Mutation_p.S326F	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	326					negative regulation of axonogenesis (GO:0050771)	filopodium (GO:0030175)|growth cone (GO:0030426)				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			ATACTGGAATCCAATCGGAAG	0.353																																						ENST00000226328.4																			0				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16						c.(976-978)tCc>tTc		RUN and FYVE domain containing 3							64.0	61.0	62.0					4																	71648890		2203	4299	6502	SO:0001583	missense	22902				negative regulation of axonogenesis	filopodium|growth cone		g.chr4:71648890C>T	AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"""Zinc fingers, FYVE domain containing"""	30285	protein-coding gene	gene with protein product	"""single axon-related 1"""	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910	ENST00000226328.4:c.977C>T	4.37:g.71648890C>T	ENSP00000226328:p.Ser326Phe					RUFY3_ENST00000381006.3_Missense_Mutation_p.S326F|RUFY3_ENST00000502653.1_Missense_Mutation_p.S273F|RUFY3_ENST00000417478.2_Missense_Mutation_p.S386F|RUFY3_ENST00000536664.1_Missense_Mutation_p.S310F	p.S326F	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	Lung(101;0.235)		9	1540	+		all_hematologic(202;0.248)	326					B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Missense_Mutation	SNP	ENST00000226328.4	37	c.977C>T	CCDS3547.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.229152	0.58777	.	.	ENSG00000018189	ENST00000417478;ENST00000381006;ENST00000226328;ENST00000536664;ENST00000502653	T;T;T;T;T	0.14893	2.47;2.47;2.47;2.47;2.47	5.7	5.7	0.88788	.	0.095984	0.85682	D	0.000000	T	0.19287	0.0463	L	0.56769	1.78	0.58432	D	0.999997	B;P;B;P	0.42785	0.217;0.79;0.019;0.702	B;B;B;B	0.39185	0.088;0.293;0.014;0.167	T	0.00956	-1.1501	10	0.66056	D	0.02	-12.1354	11.7518	0.51853	0.1371:0.7308:0.1321:0.0	.	310;326;326;386	B4DKC2;Q7L099-3;Q7L099;Q7L099-2	.;.;RUFY3_HUMAN;.	F	386;326;326;310;273	ENSP00000399771:S386F;ENSP00000370394:S326F;ENSP00000226328:S326F;ENSP00000443652:S310F;ENSP00000425400:S273F	ENSP00000226328:S326F	S	+	2	0	RUFY3	71867754	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.662000	0.61525	2.683000	0.91414	0.655000	0.94253	TCC		0.353	RUFY3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252161.2	NM_014961		12	4	0	0	0	1	0	12	4				
MAP1A	4130	broad.mit.edu	37	15	43818933	43818933	+	Silent	SNP	C	C	T			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr15:43818933C>T	ENST00000300231.5	+	4	5712	c.5262C>T	c.(5260-5262)gaC>gaT	p.D1754D	MAP1A_ENST00000399453.1_Silent_p.D1754D|MAP1A_ENST00000382031.1_Silent_p.D1992D			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1754					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GGGCCTCAGACTTCAAGGATT	0.567																																						ENST00000382031.1																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(5974-5976)gaC>gaT		microtubule-associated protein 1A	Estramustine(DB01196)						60.0	63.0	62.0					15																	43818933		1932	4124	6056	SO:0001819	synonymous_variant	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43818933C>T	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.5262C>T	15.37:g.43818933C>T						MAP1A_ENST00000300231.5_Silent_p.D1754D|MAP1A_ENST00000399453.1_Silent_p.D1754D	p.D1992D			P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	6007	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	1754					O95643|Q12973|Q15882|Q9UJT4	Silent	SNP	ENST00000300231.5	37	c.5976C>T	CCDS42031.1																																																																																				0.567	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		64	94	0	0	0	1	0	64	94				
CDH8	1006	broad.mit.edu	37	16	61854850	61854850	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr16:61854850C>A	ENST00000577390.1	-	6	1957	c.1003G>T	c.(1003-1005)Ggc>Tgc	p.G335C	CDH8_ENST00000577730.1_Missense_Mutation_p.G335C|CDH8_ENST00000299345.6_Missense_Mutation_p.G335C|CDH8_ENST00000584337.1_Missense_Mutation_p.G335C	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	335	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CTTATAATGCCATCCTGGGCC	0.383																																						ENST00000577390.1																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(1003-1005)Ggc>Tgc		cadherin 8, type 2							135.0	116.0	123.0					16																	61854850		2203	4300	6503	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61854850C>A	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1003G>T	16.37:g.61854850C>A	ENSP00000462701:p.Gly335Cys					CDH8_ENST00000577730.1_Missense_Mutation_p.G335C|CDH8_ENST00000584337.1_Missense_Mutation_p.G335C|CDH8_ENST00000299345.6_Missense_Mutation_p.G335C	p.G335C	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	6	1957	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	335			Cadherin 3.		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.1003G>T	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.751022	0.89753	.	.	ENSG00000150394	ENST00000299345	T	0.04603	3.59	6.16	6.16	0.99307	Cadherin (5);Cadherin-like (1);	0.086415	0.85682	D	0.000000	T	0.35508	0.0934	H	0.94183	3.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.41556	-0.9502	10	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	151;335	Q3LID3;P55286	.;CADH8_HUMAN	C	335	ENSP00000299345:G335C	ENSP00000299345:G335C	G	-	1	0	CDH8	60412351	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.440000	0.80464	2.937000	0.99478	0.650000	0.86243	GGC		0.383	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		33	63	1	0	2.47316e-13	1	2.78446e-13	33	63				
C3orf17	25871	broad.mit.edu	37	3	112724609	112724609	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr3:112724609G>T	ENST00000314400.5	-	9	1669	c.1478C>A	c.(1477-1479)aCt>aAt	p.T493N	C3orf17_ENST00000393857.2_Missense_Mutation_p.T357N|C3orf17_ENST00000383675.2_Missense_Mutation_p.T423N|C3orf17_ENST00000472762.1_5'Flank	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	493					negative regulation of neuron differentiation (GO:0045665)|positive regulation of Notch signaling pathway (GO:0045747)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						TCTATGCACAGTACAGTGTGA	0.418																																						ENST00000314400.5																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						c.(1477-1479)aCt>aAt		chromosome 3 open reading frame 17							128.0	118.0	121.0					3																	112724609		2203	4300	6503	SO:0001583	missense	25871					integral to membrane		g.chr3:112724609G>T	AL117573	CCDS33824.1	3q13.2	2009-11-06			ENSG00000163608	ENSG00000163608			24496	protein-coding gene	gene with protein product						12477932	Standard	NR_027794		Approved	DKFZP434F2021, NET17	uc003dzr.3	Q6NW34	OTTHUMG00000159286	ENST00000314400.5:c.1478C>A	3.37:g.112724609G>T	ENSP00000320251:p.Thr493Asn					C3orf17_ENST00000383675.2_Missense_Mutation_p.T423N|C3orf17_ENST00000393857.2_Missense_Mutation_p.T357N	p.T493N	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN			9	1669	-			493					D3DN69|Q68DM6|Q9H7U0|Q9UFM4	Missense_Mutation	SNP	ENST00000314400.5	37	c.1478C>A	CCDS33824.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.344522	0.61073	.	.	ENSG00000163608	ENST00000314400;ENST00000383675;ENST00000412848;ENST00000393857	T;T;T	0.39406	1.08;1.08;1.08	5.9	3.13	0.36017	.	0.896444	0.09909	N	0.740024	T	0.45975	0.1369	L	0.56769	1.78	0.09310	N	1	P;P;P;P	0.49559	0.703;0.815;0.859;0.925	B;B;B;P	0.48227	0.323;0.413;0.414;0.571	T	0.34304	-0.9834	10	0.72032	D	0.01	0.3112	7.8905	0.29675	0.2376:0.0:0.7624:0.0	.	382;290;423;493	E7EN80;E7EQH6;Q6NW34-2;Q6NW34	.;.;.;CC017_HUMAN	N	493;423;140;357	ENSP00000320251:T493N;ENSP00000373173:T423N;ENSP00000377438:T357N	ENSP00000320251:T493N	T	-	2	0	C3orf17	114207299	0.001000	0.12720	0.244000	0.24202	0.143000	0.21401	0.954000	0.29175	1.506000	0.48736	0.655000	0.94253	ACT		0.418	C3orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354405.3	NM_015412		37	78	1	0	1.26612e-14	1	1.44571e-14	37	78				
CREBBP	1387	broad.mit.edu	37	16	3781794	3781794	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr16:3781794T>C	ENST00000262367.5	-	29	5682	c.4873A>G	c.(4873-4875)Atg>Gtg	p.M1625V	CREBBP_ENST00000382070.3_Missense_Mutation_p.M1587V	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1625	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Interaction with TRERF1.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.M1625V(1)|p.M1625L(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGCTTCTCCATGGTGGCATAC	0.612			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"""T, N, F, Mis, O"""	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"""MLL, MORF, RUNXBP2"""		"""ALL, AML, DLBCL, B-NHL """		2	Substitution - Missense(2)	p.M1625V(1)|p.M1625L(1)	haematopoietic_and_lymphoid_tissue(2)	NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(4873-4875)Atg>Gtg		CREB binding protein							351.0	288.0	310.0					16																	3781794		2197	4300	6497	SO:0001583	missense	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3781794T>C	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4873A>G	16.37:g.3781794T>C	ENSP00000262367:p.Met1625Val					CREBBP_ENST00000382070.3_Missense_Mutation_p.M1587V	p.M1625V	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	29	5682	-		Ovarian(90;0.0266)	1625			Interaction with TRERF1.		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.4873A>G	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	t	14.83	2.653907	0.47362	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.93076	-3.16;-3.16	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.96920	0.8994	M	0.87038	2.855	0.80722	D	1	P;P	0.44776	0.843;0.843	D;D	0.64506	0.926;0.926	D	0.97192	0.9858	10	0.54805	T	0.06	-21.413	15.5057	0.75739	0.0:0.0:0.0:1.0	.	1655;1625	Q4LE28;Q92793	.;CBP_HUMAN	V	1625;1655;1587	ENSP00000262367:M1625V;ENSP00000371502:M1587V	ENSP00000262367:M1625V	M	-	1	0	CREBBP	3721795	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.071000	0.62044	0.459000	0.35465	ATG		0.612	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		58	28	0	0	0	1	0	58	28				
ZCCHC5	203430	broad.mit.edu	37	X	77913745	77913745	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chrX:77913745G>T	ENST00000321110.1	-	2	468	c.173C>A	c.(172-174)gCc>gAc	p.A58D		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	58							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GGGCTCCTTGGCCTCTGAGGA	0.572																																						ENST00000321110.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						c.(172-174)gCc>gAc		zinc finger, CCHC domain containing 5							33.0	30.0	31.0					X																	77913745		2203	4300	6503	SO:0001583	missense	203430						nucleic acid binding|zinc ion binding	g.chrX:77913745G>T	AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"""Zinc fingers, CCHC domain containing"""	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.173C>A	X.37:g.77913745G>T	ENSP00000316794:p.Ala58Asp						p.A58D	NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN			2	468	-			58					B2RMZ0|Q5JQE9	Missense_Mutation	SNP	ENST00000321110.1	37	c.173C>A	CCDS14440.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.015558	0.35511	.	.	ENSG00000179300	ENST00000321110	T	0.25085	1.82	3.65	1.71	0.24356	.	.	.	.	.	T	0.16981	0.0408	N	0.24115	0.695	0.09310	N	1	P	0.44877	0.845	B	0.41813	0.367	T	0.11131	-1.0600	9	0.72032	D	0.01	.	5.9276	0.19120	0.4116:0.0:0.5884:0.0	.	58	Q8N8U3	ZCHC5_HUMAN	D	58	ENSP00000316794:A58D	ENSP00000316794:A58D	A	-	2	0	ZCCHC5	77800401	0.696000	0.27757	0.001000	0.08648	0.004000	0.04260	2.109000	0.41863	0.164000	0.19529	-0.444000	0.05651	GCC		0.572	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1	NM_152694		17	5	1	0	4.7546e-09	1	5.20742e-09	17	5				
KRTAP5-4	387267	broad.mit.edu	37	11	1643267	1643267	+	Silent	SNP	G	G	A	rs150695727	byFrequency	TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr11:1643267G>A	ENST00000399682.1	-	1	101	c.57C>T	c.(55-57)tcC>tcT	p.S19S		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0						keratin filament (GO:0045095)				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ccccacagccggagccacagc	0.687																																						ENST00000399682.1																			0				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20						c.(55-57)tcC>tcT		keratin associated protein 5-4							6.0	8.0	8.0					11																	1643267		670	1560	2230	SO:0001819	synonymous_variant	387267					keratin filament		g.chr11:1643267G>A	AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"""Keratin associated proteins"""	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.57C>T	11.37:g.1643267G>A							p.S19S	NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	101	-		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	19						Silent	SNP	ENST00000399682.1	37	c.57C>T																																																																																					0.687	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		5	59	0	0	0	1	0	5	59				
HEPH	9843	broad.mit.edu	37	X	65427085	65427085	+	Silent	SNP	A	A	G			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chrX:65427085A>G	ENST00000343002.2	+	13	3004	c.2340A>G	c.(2338-2340)agA>agG	p.R780R	HEPH_ENST00000419594.1_Silent_p.R591R|HEPH_ENST00000519389.1_Silent_p.R834R|HEPH_ENST00000374727.3_Silent_p.R783R|HEPH_ENST00000336279.5_Silent_p.R513R|HEPH_ENST00000441993.2_Silent_p.R783R			Q9BQS7	HEPH_HUMAN	hephaestin	780	Plastocyanin-like 5.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TGGGTTCCAGATACAAGAAAG	0.468																																						ENST00000519389.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(2500-2502)agA>agG		hephaestin							118.0	99.0	106.0					X																	65427085		2203	4300	6503	SO:0001819	synonymous_variant	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65427085A>G	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.2340A>G	X.37:g.65427085A>G						HEPH_ENST00000343002.2_Silent_p.R780R|HEPH_ENST00000336279.5_Silent_p.R513R|HEPH_ENST00000441993.2_Silent_p.R783R|HEPH_ENST00000419594.1_Silent_p.R591R|HEPH_ENST00000374727.3_Silent_p.R783R	p.R834R			Q9BQS7	HEPH_HUMAN			14	2681	+			780			Plastocyanin-like 5.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Silent	SNP	ENST00000343002.2	37	c.2502A>G																																																																																					0.468	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		27	9	0	0	0	1	0	27	9				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			650368							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			3	27	0	0	0	1	0	3	27				
OR52B2	255725	broad.mit.edu	37	11	6191307	6191307	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr11:6191307G>T	ENST00000530810.1	-	1	331	c.250C>A	c.(250-252)Cta>Ata	p.L84I	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	84						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGATGGCTAGGGCCTTGGGC	0.483																																					NSCLC(5;186 261 1778 7098 14207)	ENST00000530810.1																			0				NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21						c.(250-252)Cta>Ata		olfactory receptor, family 52, subfamily B, member 2							176.0	176.0	176.0					11																	6191307		2110	4253	6363	SO:0001583	missense	255725				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6191307G>T	AB065763	CCDS53598.1	11p15.4	2012-08-09				ENSG00000255307		"""GPCR / Class A : Olfactory receptors"""	15207	protein-coding gene	gene with protein product							Standard	NM_001004052		Approved		uc010qzy.2	Q96RD2		ENST00000530810.1:c.250C>A	11.37:g.6191307G>T	ENSP00000432011:p.Leu84Ile					RP11-290F24.3_ENST00000529961.1_RNA	p.L84I	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	331	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	84					Q8NGM7	Missense_Mutation	SNP	ENST00000530810.1	37	c.250C>A	CCDS53598.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.050128	0.55218	.	.	ENSG00000255307	ENST00000530810	T	0.00364	7.81	4.72	2.76	0.32466	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00906	0.0030	M	0.81239	2.535	0.27570	N	0.949916	D	0.69078	0.997	D	0.78314	0.991	T	0.40136	-0.9579	9	0.72032	D	0.01	.	9.7463	0.40448	0.1884:0.0:0.8116:0.0	.	84	Q96RD2	O52B2_HUMAN	I	84	ENSP00000432011:L84I	ENSP00000432011:L84I	L	-	1	2	OR52B2	6147883	0.941000	0.31946	0.958000	0.39756	0.790000	0.44656	1.300000	0.33436	1.261000	0.44149	0.643000	0.83706	CTA		0.483	OR52B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385977.1	NM_001004052		39	63	1	0	1.08169e-08	1	1.17671e-08	39	63				
SASH1	23328	broad.mit.edu	37	6	148865655	148865655	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr6:148865655C>T	ENST00000367467.3	+	18	3524	c.3049C>T	c.(3049-3051)Cca>Tca	p.P1017S		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	1017	Pro-rich.				positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		TCCCGATGCGCCATGCCTGCC	0.677																																						ENST00000367467.3																			0				breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(3049-3051)Cca>Tca		SAM and SH3 domain containing 1							23.0	28.0	26.0					6																	148865655		2203	4300	6503	SO:0001583	missense	23328						protein binding	g.chr6:148865655C>T	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.3049C>T	6.37:g.148865655C>T	ENSP00000356437:p.Pro1017Ser						p.P1017S	NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	18	3524	+		Ovarian(120;0.0169)	1017			Pro-rich.		Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	ENST00000367467.3	37	c.3049C>T	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.239095	0.39598	.	.	ENSG00000111961	ENST00000367467;ENST00000537769	T	0.47177	0.85	5.1	5.1	0.69264	.	0.333575	0.33180	N	0.005192	T	0.20981	0.0505	N	0.24115	0.695	0.41796	D	0.989897	P;P	0.43750	0.816;0.816	B;B	0.36766	0.232;0.152	T	0.17018	-1.0383	10	0.87932	D	0	-22.3623	13.4829	0.61348	0.1564:0.8436:0.0:0.0	.	998;1017	Q6P4R9;O94885	.;SASH1_HUMAN	S	1017;427	ENSP00000356437:P1017S	ENSP00000356437:P1017S	P	+	1	0	SASH1	148907348	0.996000	0.38824	0.062000	0.19696	0.007000	0.05969	3.899000	0.56288	2.375000	0.81037	0.650000	0.86243	CCA		0.677	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		28	46	0	0	0	1	0	28	46				
ZNF559	84527	broad.mit.edu	37	19	9449975	9449975	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr19:9449975A>G	ENST00000393883.2	+	4	788	c.140A>G	c.(139-141)tAt>tGt	p.Y47C	ZNF559_ENST00000317221.7_Missense_Mutation_p.Y47C|ZNF559_ENST00000538743.1_Intron|ZNF559_ENST00000603380.1_Missense_Mutation_p.Y47C|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000592504.1_Missense_Mutation_p.Y47C|ZNF177_ENST00000446085.4_Intron|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000592896.1_Missense_Mutation_p.Y75C|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000585352.1_Missense_Mutation_p.Y47C|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000587557.1_Missense_Mutation_p.Y111C|ZNF559_ENST00000586255.1_Missense_Mutation_p.Y75C	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	47	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						CTGGAGAACTATAAGAATCTA	0.408																																						ENST00000393883.2																			0				endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						c.(139-141)tAt>tGt		zinc finger protein 559							187.0	165.0	173.0					19																	9449975		2203	4300	6503	SO:0001583	missense	84527				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9449975A>G	AL389937	CCDS12211.1, CCDS59349.1, CCDS62531.1, CCDS62532.1	19p13.2	2013-09-20			ENSG00000188321	ENSG00000188321		"""Zinc fingers, C2H2-type"", ""-"""	28197	protein-coding gene	gene with protein product						12477932	Standard	NM_001202406		Approved	MGC13105	uc002mle.4	Q9BR84	OTTHUMG00000179942	ENST00000393883.2:c.140A>G	19.37:g.9449975A>G	ENSP00000377461:p.Tyr47Cys					ZNF559_ENST00000592896.1_Missense_Mutation_p.Y75C|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000592504.1_Missense_Mutation_p.Y47C|ZNF559_ENST00000317221.7_Missense_Mutation_p.Y47C|ZNF559_ENST00000603380.1_Missense_Mutation_p.Y47C|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000587557.1_Missense_Mutation_p.Y111C|ZNF559_ENST00000586255.1_Missense_Mutation_p.Y75C|ZNF559_ENST00000585352.1_Missense_Mutation_p.Y47C|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000538743.1_Intron|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000446085.4_Intron	p.Y47C	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN			4	788	+			47			KRAB.		K7EMG6	Missense_Mutation	SNP	ENST00000393883.2	37	c.140A>G	CCDS12211.1	.	.	.	.	.	.	.	.	.	.	A	11.60	1.686857	0.29962	.	.	ENSG00000188321	ENST00000317221;ENST00000393883	T;T	0.02525	4.26;4.26	2.32	-1.35	0.09114	Krueppel-associated box (4);	.	.	.	.	T	0.08758	0.0217	M	0.84948	2.725	0.19575	N	0.999961	P	0.49961	0.93	P	0.54372	0.75	T	0.12066	-1.0562	9	0.66056	D	0.02	.	2.8754	0.05629	0.4928:0.0:0.1274:0.3798	.	47	Q9BR84	ZN559_HUMAN	C	47	ENSP00000325393:Y47C;ENSP00000377461:Y47C	ENSP00000325393:Y47C	Y	+	2	0	ZNF559	9310975	0.037000	0.19845	0.009000	0.14445	0.830000	0.47004	0.329000	0.19698	-0.444000	0.07170	0.260000	0.18958	TAT		0.408	ZNF559-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449021.1	NM_032497		80	105	0	0	0	1	0	80	105				
GMIP	51291	broad.mit.edu	37	19	19740953	19740953	+	Missense_Mutation	SNP	C	C	T	rs374915909		TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr19:19740953C>T	ENST00000203556.4	-	21	2869	c.2732G>A	c.(2731-2733)cGg>cAg	p.R911Q	LPAR2_ENST00000542587.1_5'Flank|LPAR2_ENST00000586703.1_5'Flank|LPAR2_ENST00000407877.3_5'Flank|GMIP_ENST00000445806.2_Missense_Mutation_p.R882Q|GMIP_ENST00000587238.1_Missense_Mutation_p.R885Q|LPAR2_ENST00000589311.1_5'Flank	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	911					intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GCTGGGCCCCCGCCCCCGCAA	0.672																																						ENST00000203556.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(2731-2733)cGg>cAg		GEM interacting protein		C	GLN/ARG	1,4399		0,1,2199	12.0	14.0	13.0		2732	2.5	0.1	19		13	0,8588		0,0,4294	no	missense	GMIP	NM_016573.2	43	0,1,6493	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	911/971	19740953	1,12987	2200	4294	6494	SO:0001583	missense	51291				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	g.chr19:19740953C>T	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.2732G>A	19.37:g.19740953C>T	ENSP00000203556:p.Arg911Gln					GMIP_ENST00000445806.2_Missense_Mutation_p.R882Q|GMIP_ENST00000587238.1_Missense_Mutation_p.R885Q	p.R911Q	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN			21	2869	-			911					A0AVN9|B7ZLZ0	Missense_Mutation	SNP	ENST00000203556.4	37	c.2732G>A	CCDS12408.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.026102	0.35701	2.27E-4	0.0	ENSG00000089639	ENST00000203556;ENST00000445806	T;T	0.20881	2.04;2.04	5.06	2.53	0.30540	.	0.184300	0.26140	N	0.026115	T	0.09247	0.0228	N	0.19112	0.55	0.09310	N	1	P;P;P	0.42456	0.78;0.665;0.539	B;B;B	0.28991	0.097;0.054;0.024	T	0.22382	-1.0218	10	0.48119	T	0.1	-7.0405	7.1687	0.25706	0.0:0.7152:0.1783:0.1065	.	882;885;911	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	Q	911;882	ENSP00000203556:R911Q;ENSP00000397075:R882Q	ENSP00000203556:R911Q	R	-	2	0	GMIP	19601953	0.001000	0.12720	0.064000	0.19789	0.973000	0.67179	0.706000	0.25690	1.126000	0.42016	0.555000	0.69702	CGG		0.672	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573		11	23	0	0	0	1	0	11	23				
OR8H1	219469	broad.mit.edu	37	11	56058221	56058221	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr11:56058221C>A	ENST00000313022.2	-	1	345	c.318G>T	c.(316-318)ttG>ttT	p.L106F		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	106						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					CAGCAGCTCCCAAGAAGACAA	0.428																																						ENST00000313022.2																			0				NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(316-318)ttG>ttT		olfactory receptor, family 8, subfamily H, member 1							187.0	186.0	186.0					11																	56058221		2201	4296	6497	SO:0001583	missense	219469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56058221C>A	AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"""GPCR / Class A : Olfactory receptors"""	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.318G>T	11.37:g.56058221C>A	ENSP00000323595:p.Leu106Phe						p.L106F	NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN			1	345	-	Esophageal squamous(21;0.00448)		106					B2RNI7|Q6IFC5	Missense_Mutation	SNP	ENST00000313022.2	37	c.318G>T	CCDS31526.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.675585	0.00104	.	.	ENSG00000181693	ENST00000313022;ENST00000395186	T	0.03496	3.91	3.94	-4.09	0.03951	GPCR, rhodopsin-like superfamily (1);	0.168106	0.28618	N	0.014707	T	0.01765	0.0056	L	0.36672	1.1	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.48703	-0.9012	10	0.02654	T	1	.	0.9808	0.01436	0.1935:0.2935:0.274:0.2391	.	106	Q8NGG4	OR8H1_HUMAN	F	106;102	ENSP00000323595:L106F	ENSP00000323595:L106F	L	-	3	2	OR8H1	55814797	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.455000	0.00231	-0.549000	0.06191	-0.280000	0.10049	TTG		0.428	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370019.1	NM_001005199		97	204	1	0	3.07327e-39	1	3.72028e-39	97	204				
FAT1	2195	broad.mit.edu	37	4	187549662	187549662	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr4:187549662G>A	ENST00000441802.2	-	8	4788	c.4579C>T	c.(4579-4581)Cag>Tag	p.Q1527*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1527	Cadherin 13. {ECO:0000255|PROSITE- ProRule:PRU00043}.			HQHT -> SPAH (in Ref. 1; CAA60685). {ECO:0000305}.	actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGGGTGTGCTGGTGAACAGCT	0.488										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(4579-4581)Cag>Tag		FAT atypical cadherin 1							88.0	84.0	85.0					4																	187549662		1948	4150	6098	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187549662G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.4579C>T	4.37:g.187549662G>A	ENSP00000406229:p.Gln1527*	HNSCC(5;0.00058)					p.Q1527*	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			8	4788	-			1527	HQHT -> SPAH (in Ref. 1; CAA60685).		Cadherin 13.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.4579C>T	CCDS47177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	43|43	9.890494|9.890494	0.99289|0.99289	.|.	.|.	ENSG00000083857|ENSG00000083857	ENST00000260147|ENST00000441802	.|.	.|.	.|.	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	.|0.177110	.|0.51477	.|D	.|0.000088	T|.	0.61887|.	0.2383|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.51545|.	-0.8692|.	4|.	0.28530|0.10111	T|T	0.3|0.7	.|.	19.5755|19.5755	0.95441|0.95441	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	L|X	1526|1527	.|.	ENSP00000260147:P1526L|ENSP00000406229:Q1527X	P|Q	-|-	2|1	0|0	FAT1|FAT1	187786656|187786656	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.039000|0.039000	0.13416|0.13416	6.328000|6.328000	0.72915|0.72915	2.865000|2.865000	0.98341|0.98341	0.655000|0.655000	0.94253|0.94253	CCA|CAG		0.488	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		20	12	0	0	0	1	0	20	12				
CR1L	1379	broad.mit.edu	37	1	207874869	207874869	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr1:207874869T>A	ENST00000508064.2	+	9	1294	c.1234T>A	c.(1234-1236)Tca>Aca	p.S412T	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	412	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CACAGGTAAATCATGTGAAAC	0.433																																						ENST00000508064.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1234-1236)Tca>Aca		complement component (3b/4b) receptor 1-like							209.0	184.0	192.0					1																	207874869		1890	4106	5996	SO:0001583	missense	1379					cytoplasm|extracellular region|membrane		g.chr1:207874869T>A	AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"""Complement system"""	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.1234T>A	1.37:g.207874869T>A	ENSP00000421736:p.Ser412Thr					CR1L_ENST00000530905.1_Intron	p.S412T	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN			9	1294	+			412			Sushi 7.		Q32MC9|Q8NEU7	Missense_Mutation	SNP	ENST00000508064.2	37	c.1234T>A	CCDS44310.1	.	.	.	.	.	.	.	.	.	.	.	3.124	-0.179900	0.06380	.	.	ENSG00000197721	ENST00000444269;ENST00000508064	T	0.23552	1.9	1.67	0.51	0.16983	Complement control module (2);Sushi/SCR/CCP (1);	.	.	.	.	T	0.15262	0.0368	L	0.41710	1.295	0.18873	N	0.999988	B	0.26744	0.158	B	0.17098	0.017	T	0.27502	-1.0072	9	0.21540	T	0.41	.	3.0933	0.06301	0.0:0.2756:0.0:0.7244	.	412	Q2VPA4	CR1L_HUMAN	T	412	ENSP00000421736:S412T	ENSP00000434864:S356T	S	+	1	0	CR1L	205941492	0.024000	0.19004	0.751000	0.31187	0.143000	0.21401	-1.252000	0.02880	0.140000	0.18849	0.248000	0.18094	TCA		0.433	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1	XM_114735		77	12	0	0	0	1	0	77	12				
ZNF830	91603	broad.mit.edu	37	17	33289647	33289647	+	Silent	SNP	G	G	A			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr17:33289647G>A	ENST00000361952.3	+	1	1099	c.1062G>A	c.(1060-1062)gaG>gaA	p.E354E	CCT6B_ENST00000421975.3_5'Flank|CCT6B_ENST00000314144.5_5'Flank|CCT6B_ENST00000436961.3_5'Flank	NM_052857.3	NP_443089.3	Q96NB3	ZN830_HUMAN	zinc finger protein 830	354					blastocyst growth (GO:0001832)|mitotic nuclear division (GO:0007067)|nuclear cell cycle DNA replication (GO:0033260)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(249;0.17)				GCGATGATGAGGGGGAACTAC	0.408																																						ENST00000361952.3																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1060-1062)gaG>gaA		zinc finger protein 830							113.0	135.0	128.0					17																	33289647		2152	4260	6412	SO:0001819	synonymous_variant	91603				cell division|mitosis	cytoplasm|nucleus	metal ion binding	g.chr17:33289647G>A	AK055707	CCDS32618.1	17q12	2013-10-23	2008-03-25	2008-03-25	ENSG00000198783	ENSG00000198783			28291	protein-coding gene	gene with protein product	"""orphan maintenance of genome 1"""		"""coiled-coil domain containing 16"""	CCDC16		23066043	Standard	NM_052857		Approved	MGC20398, OMCG1	uc002hih.4	Q96NB3	OTTHUMG00000179771	ENST00000361952.3:c.1062G>A	17.37:g.33289647G>A							p.E354E	NM_052857.3	NP_443089.3	Q96NB3	ZN830_HUMAN			1	1099	+		Ovarian(249;0.17)	354					Q96F60|Q96GZ5|Q9BU38	Silent	SNP	ENST00000361952.3	37	c.1062G>A	CCDS32618.1																																																																																				0.408	ZNF830-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448018.1	NM_052857		40	58	0	0	0	1	0	40	58				
EDEM1	9695	broad.mit.edu	37	3	5249856	5249856	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr3:5249856C>T	ENST00000256497.4	+	8	1550	c.1417C>T	c.(1417-1419)Cct>Tct	p.P473S	EDEM1_ENST00000445686.1_Missense_Mutation_p.P278S	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	473					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	calcium ion binding (GO:0005509)|misfolded protein binding (GO:0051787)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		TGGTGCCCTCCCTGAGAGATA	0.498																																						ENST00000256497.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(1417-1419)Cct>Tct		ER degradation enhancer, mannosidase alpha-like 1							195.0	169.0	178.0					3																	5249856		2203	4300	6503	SO:0001583	missense	9695				ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr3:5249856C>T	D86967	CCDS33686.1	3p26.1	2008-02-05			ENSG00000134109	ENSG00000134109			18967	protein-coding gene	gene with protein product		607673				12610306	Standard	NM_014674		Approved	KIAA0212, EDEM	uc003bqi.3	Q92611	OTTHUMG00000154896	ENST00000256497.4:c.1417C>T	3.37:g.5249856C>T	ENSP00000256497:p.Pro473Ser					EDEM1_ENST00000445686.1_Missense_Mutation_p.P278S	p.P473S	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN		Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)	8	1550	+			473					A8K9C8|B4DXP3	Missense_Mutation	SNP	ENST00000256497.4	37	c.1417C>T	CCDS33686.1	.	.	.	.	.	.	.	.	.	.	C	33	5.246450	0.95305	.	.	ENSG00000134109	ENST00000256497;ENST00000445686	D;D	0.84370	-1.84;-1.84	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.95360	0.8494	H	0.96576	3.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96243	0.9177	10	0.54805	T	0.06	-18.9571	19.2054	0.93728	0.0:1.0:0.0:0.0	.	278;473	B4DXP3;Q92611	.;EDEM1_HUMAN	S	473;278	ENSP00000256497:P473S;ENSP00000394099:P278S	ENSP00000256497:P473S	P	+	1	0	EDEM1	5224856	1.000000	0.71417	0.968000	0.41197	0.984000	0.73092	7.450000	0.80656	2.515000	0.84797	0.655000	0.94253	CCT		0.498	EDEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337566.2	NM_014674		68	30	0	0	0	1	0	68	30				
RPS6KA2	6196	broad.mit.edu	37	6	166845943	166845943	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr6:166845943C>G	ENST00000265678.4	-	15	1591	c.1368G>C	c.(1366-1368)gaG>gaC	p.E456D	RPS6KA2_ENST00000481261.2_Missense_Mutation_p.E367D|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.E464D|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.E367D|RPS6KA2_ENST00000510118.1_Missense_Mutation_p.E481D	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	456	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		GGATCTCAATCTCTTCCGAGG	0.522																																						ENST00000510118.1																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45						c.(1441-1443)gaG>gaC		ribosomal protein S6 kinase, 90kDa, polypeptide 2							139.0	112.0	121.0					6																	166845943		2203	4300	6503	SO:0001583	missense	6196				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr6:166845943C>G	L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"""ribosomal protein S6 kinase, 90kD, polypeptide 2"""			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.1368G>C	6.37:g.166845943C>G	ENSP00000265678:p.Glu456Asp					RPS6KA2_ENST00000265678.4_Missense_Mutation_p.E456D|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.E464D|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.E367D|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.E367D	p.E481D			Q15349	KS6A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)	17	1783	-		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)	456			Protein kinase 2.		B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Missense_Mutation	SNP	ENST00000265678.4	37	c.1443G>C	CCDS5294.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.141301	0.57044	.	.	ENSG00000071242	ENST00000265678;ENST00000510118;ENST00000503859;ENST00000481261;ENST00000405189	T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68	4.79	3.84	0.44239	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.057385	0.64402	D	0.000002	T	0.75206	0.3818	M	0.81239	2.535	0.80722	D	1	D;P;P	0.57571	0.98;0.916;0.929	P;P;D	0.67382	0.84;0.649;0.951	T	0.78473	-0.2190	10	0.87932	D	0	.	4.4116	0.11436	0.0:0.7243:0.0:0.2757	.	481;464;456	F2Z2J1;Q15349-3;Q15349	.;.;KS6A2_HUMAN	D	456;481;464;367;367	ENSP00000265678:E456D;ENSP00000422435:E481D;ENSP00000427015:E464D;ENSP00000422484:E367D;ENSP00000386050:E367D	ENSP00000265678:E456D	E	-	3	2	RPS6KA2	166765933	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.065000	0.30592	2.478000	0.83669	0.650000	0.86243	GAG		0.522	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	NM_021135		10	19	0	0	0	1	0	10	19				
SLC6A11	6538	broad.mit.edu	37	3	10971010	10971010	+	Silent	SNP	C	C	T			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr3:10971010C>T	ENST00000254488.2	+	10	1422	c.1356C>T	c.(1354-1356)ctC>ctT	p.L452L		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	452					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	TTCTGGGCCTCGTGATGTTAA	0.572																																						ENST00000254488.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35						c.(1354-1356)ctC>ctT		solute carrier family 6 (neurotransmitter transporter), member 11							221.0	199.0	206.0					3																	10971010		2203	4300	6503	SO:0001819	synonymous_variant	6538				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:10971010C>T	S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"""Solute carriers"""	11044	protein-coding gene	gene with protein product	"""GABA transporter 3"""	607952	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 11"""			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.1356C>T	3.37:g.10971010C>T							p.L452L	NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.229)	10	1422	+			452					B2R6U6|Q8IYC9	Silent	SNP	ENST00000254488.2	37	c.1356C>T	CCDS2602.1																																																																																				0.572	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1	NM_014229		86	62	0	0	0	1	0	86	62				
SLC45A1	50651	broad.mit.edu	37	1	8386060	8386060	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr1:8386060G>A	ENST00000471889.1	+	4	1058	c.673G>A	c.(673-675)Gca>Aca	p.A225T	SLC45A1_ENST00000289877.8_Missense_Mutation_p.A225T|SLC45A1_ENST00000377479.2_Missense_Mutation_p.A259T|Y_RNA_ENST00000516445.1_RNA			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	225					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GTGCAGCCCCGCAGACCAGGA	0.657																																						ENST00000471889.1																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33						c.(673-675)Gca>Aca		solute carrier family 45, member 1							71.0	67.0	68.0					1																	8386060		2203	4300	6503	SO:0001583	missense	50651				carbohydrate transport	integral to membrane	symporter activity	g.chr1:8386060G>A	AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"""Solute carriers"""	17939	protein-coding gene	gene with protein product	"""H+/sugar symporter"""	605763	"""deleted in neuroblastoma 5"""	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.673G>A	1.37:g.8386060G>A	ENSP00000418096:p.Ala225Thr					SLC45A1_ENST00000377479.2_Missense_Mutation_p.A259T|SLC45A1_ENST00000289877.8_Missense_Mutation_p.A225T	p.A225T			Q9Y2W3	S45A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	4	1058	+	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	225					Q5VY46|Q5VY49	Missense_Mutation	SNP	ENST00000471889.1	37	c.673G>A	CCDS30577.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.269208	0.40095	.	.	ENSG00000162426	ENST00000471889;ENST00000377479;ENST00000289877	T;T;T	0.81078	-1.45;-1.45;-1.45	5.18	2.95	0.34219	Major facilitator superfamily domain, general substrate transporter (1);	0.536026	0.20643	N	0.088370	T	0.57154	0.2034	N	0.04508	-0.205	0.09310	N	1	B	0.30439	0.279	B	0.27608	0.081	T	0.52609	-0.8553	10	0.52906	T	0.07	-21.2516	6.8172	0.23837	0.1701:0.0:0.6906:0.1393	.	225	Q9Y2W3	S45A1_HUMAN	T	225;259;225	ENSP00000418096:A225T;ENSP00000366699:A259T;ENSP00000289877:A225T	ENSP00000289877:A225T	A	+	1	0	SLC45A1	8308647	0.998000	0.40836	0.003000	0.11579	0.590000	0.36582	4.001000	0.57046	1.013000	0.39391	0.561000	0.74099	GCA		0.657	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5			47	17	0	0	0	1	0	47	17				
SLC9A2	6549	broad.mit.edu	37	2	103324610	103324610	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr2:103324610G>A	ENST00000233969.2	+	12	2243	c.2101G>A	c.(2101-2103)Ggg>Agg	p.G701R		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	701					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CGCAGATGCCGGGACCACCGT	0.498																																						ENST00000233969.2																			0				breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(2101-2103)Ggg>Agg		solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2							81.0	87.0	85.0					2																	103324610		2203	4300	6503	SO:0001583	missense	6549					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr2:103324610G>A		CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"""Solute carriers"""	11072	protein-coding gene	gene with protein product		600530	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 2"""	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.2101G>A	2.37:g.103324610G>A	ENSP00000233969:p.Gly701Arg						p.G701R	NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN			12	2243	+			701					B2RMS2	Missense_Mutation	SNP	ENST00000233969.2	37	c.2101G>A	CCDS2062.1	.	.	.	.	.	.	.	.	.	.	G	9.820	1.185446	0.21870	.	.	ENSG00000115616	ENST00000233969	T	0.58358	0.34	5.48	4.58	0.56647	.	1.213350	0.05368	N	0.534903	T	0.35885	0.0947	N	0.24115	0.695	0.19575	N	0.999969	P	0.50443	0.935	B	0.36766	0.232	T	0.11324	-1.0592	10	0.18710	T	0.47	.	8.5758	0.33598	0.0795:0.0:0.7681:0.1524	.	701	Q9UBY0	SL9A2_HUMAN	R	701	ENSP00000233969:G701R	ENSP00000233969:G701R	G	+	1	0	SLC9A2	102691042	0.991000	0.36638	0.606000	0.28943	0.162000	0.22319	2.251000	0.43187	1.370000	0.46153	0.655000	0.94253	GGG		0.498	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253292.2			48	70	0	0	0	1	0	48	70				
COX10-AS1	100874058	broad.mit.edu	37	17	13927886	13927886	+	RNA	SNP	G	G	A	rs11649821	byFrequency	TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr17:13927886G>A	ENST00000602743.1	-	0	224									COX10 antisense RNA 1																		AACGGAGGGAGTGAGAGCCTT	0.562													-|||	683	0.136382	0.0968	0.147	5008	,	,		18512	0.1121		0.1849	False		,,,				2504	0.1575					ENST00000602743.1																			0																																																			100874058							g.chr17:13927886G>A			17p12	2013-05-22	2012-08-15	2010-11-25	ENSG00000236088	ENSG00000236088		"""Long non-coding RNAs"""	38873	non-coding RNA	RNA, long non-coding			"""COX10 antisense RNA (non-protein coding)"", ""COX10 antisense RNA 1 (non-protein coding)"""	COX10AS, COX10-AS			Standard	NR_049718		Approved		uc002goe.1		OTTHUMG00000058771		17.37:g.13927886G>A														0	224	-									RNA	SNP	ENST00000602743.1	37																																																																																						0.562	COX10-AS1-005	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000467585.1			3	25	0	0	0	1	0	3	25				
SLCO1B1	10599	broad.mit.edu	37	12	21349925	21349925	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr12:21349925G>T	ENST00000256958.2	+	8	869	c.773G>T	c.(772-774)tGg>tTg	p.W258L		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	258					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	GTTGGAGCTTGGTGGCTTAAT	0.348																																						ENST00000256958.2																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70						c.(772-774)tGg>tTg		solute carrier organic anion transporter family, member 1B1	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)						232.0	211.0	219.0					12																	21349925		2203	4300	6503	SO:0001583	missense	10599				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	g.chr12:21349925G>T		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.773G>T	12.37:g.21349925G>T	ENSP00000256958:p.Trp258Leu						p.W258L	NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN			8	869	+			258					B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	ENST00000256958.2	37	c.773G>T	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.716162	0.48622	.	.	ENSG00000134538	ENST00000256958	T	0.79845	-1.31	3.24	3.24	0.37175	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.91841	0.7418	H	0.95780	3.72	0.49299	D	0.999774	D	0.76494	0.999	D	0.87578	0.998	D	0.93733	0.7043	10	0.87932	D	0	.	12.7505	0.57306	0.0:0.0:1.0:0.0	.	258	Q9Y6L6	SO1B1_HUMAN	L	258	ENSP00000256958:W258L	ENSP00000256958:W258L	W	+	2	0	SLCO1B1	21241192	1.000000	0.71417	1.000000	0.80357	0.458000	0.32498	7.302000	0.78861	1.797000	0.52628	0.491000	0.48974	TGG		0.348	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		52	126	1	0	1.21353e-23	1	1.42612e-23	52	126				
RIC8B	55188	broad.mit.edu	37	12	107236418	107236418	+	Silent	SNP	C	C	T			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr12:107236418C>T	ENST00000392839.2	+	5	994	c.888C>T	c.(886-888)ctC>ctT	p.L296L	RIC8B_ENST00000355478.2_Silent_p.L256L|RIC8B_ENST00000549643.1_Intron|RIC8B_ENST00000392837.4_Silent_p.L296L	NM_018157.2	NP_060627.2	Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	296					regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	G-protein alpha-subunit binding (GO:0001965)|guanyl-nucleotide exchange factor activity (GO:0005085)			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						TGGATGTTCTCATTTGTCCGT	0.358																																						ENST00000392837.4																			0				kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						c.(886-888)ctC>ctT		RIC8 guanine nucleotide exchange factor B							111.0	111.0	111.0					12																	107236418		2203	4300	6503	SO:0001819	synonymous_variant	55188				regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity	g.chr12:107236418C>T	AK128102	CCDS9109.2	12q23.3	2013-08-05	2013-08-05		ENSG00000111785	ENSG00000111785			25555	protein-coding gene	gene with protein product		609147	"""resistance to inhibitors of cholinesterase 8 homolog B (C. elegans)"""				Standard	XM_005268998		Approved	FLJ10620, hSyn, RIC8	uc001tlx.3	Q9NVN3	OTTHUMG00000144188	ENST00000392839.2:c.888C>T	12.37:g.107236418C>T						RIC8B_ENST00000355478.2_Silent_p.L256L|RIC8B_ENST00000549643.1_Intron|RIC8B_ENST00000392839.2_Silent_p.L296L	p.L296L			Q9NVN3	RIC8B_HUMAN			5	1039	+			296					A2RTZ0|Q4G103|Q6ZRN4|Q86WD3	Silent	SNP	ENST00000392839.2	37	c.888C>T	CCDS9109.2	.	.	.	.	.	.	.	.	.	.	C	6.266	0.417204	0.11870	.	.	ENSG00000111785	ENST00000548914	.	.	.	5.41	3.55	0.40652	.	.	.	.	.	T	0.54581	0.1867	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47686	-0.9098	4	.	.	.	-3.3116	5.9131	0.19039	0.1505:0.6538:0.0:0.1956	.	.	.	.	L	121	.	.	S	+	2	0	RIC8B	105760548	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.024000	0.30077	0.634000	0.30469	-0.169000	0.13324	TCA		0.358	RIC8B-006	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000291398.2	NM_018157		33	51	0	0	0	1	0	33	51				
CEP78	84131	broad.mit.edu	37	9	80866898	80866898	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr9:80866898C>G	ENST00000424347.2	+	9	1433	c.1144C>G	c.(1144-1146)Ctt>Gtt	p.L382V	CEP78_ENST00000376598.2_Missense_Mutation_p.L382V|CEP78_ENST00000376597.4_Missense_Mutation_p.L383V|CEP78_ENST00000277082.5_Missense_Mutation_p.L382V|CEP78_ENST00000415759.2_Missense_Mutation_p.L383V			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	382					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						GCCCGCACCTCTTCCACCTGG	0.418																																						ENST00000424347.2																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						c.(1144-1146)Ctt>Gtt		centrosomal protein 78kDa							41.0	43.0	42.0					9																	80866898		1876	4118	5994	SO:0001583	missense	84131				G2/M transition of mitotic cell cycle	centrosome|cytosol		g.chr9:80866898C>G	BC058931	CCDS47984.1, CCDS47985.1	9q21.2	2014-02-20	2005-12-01	2005-12-01	ENSG00000148019	ENSG00000148019			25740	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 81"""	C9orf81		14654843	Standard	NM_001098802		Approved	FLJ12643	uc004aky.4	Q5JTW2	OTTHUMG00000020062	ENST00000424347.2:c.1144C>G	9.37:g.80866898C>G	ENSP00000411284:p.Leu382Val					CEP78_ENST00000415759.2_Missense_Mutation_p.L383V|CEP78_ENST00000376597.4_Missense_Mutation_p.L383V|CEP78_ENST00000277082.5_Missense_Mutation_p.L382V|CEP78_ENST00000376598.2_Missense_Mutation_p.L382V	p.L382V			Q5JTW2	CEP78_HUMAN			9	1433	+			382					A1A4S8|E9PHX5|Q5BJE3|Q5JTW0|Q5JTW1|Q9H9N3	Missense_Mutation	SNP	ENST00000424347.2	37	c.1144C>G		.	.	.	.	.	.	.	.	.	.	C	9.880	1.201214	0.22121	.	.	ENSG00000148019	ENST00000424347;ENST00000415085;ENST00000415759;ENST00000376597;ENST00000277082;ENST00000376598	T;T;T;T;T	0.30182	1.55;1.74;1.54;1.55;1.55	5.86	0.148	0.14843	.	0.000000	0.48767	D	0.000177	T	0.41743	0.1172	M	0.69823	2.125	0.09310	N	1	D;D;P	0.76494	0.999;0.999;0.726	D;D;B	0.68621	0.912;0.959;0.191	T	0.20075	-1.0286	10	0.38643	T	0.18	-3.5995	1.9818	0.03428	0.1291:0.4018:0.1266:0.3425	.	383;383;382	E9PHX5;Q5JTW2-2;Q5JTW2	.;.;CEP78_HUMAN	V	382;382;383;383;382;382	ENSP00000411284:L382V;ENSP00000399286:L383V;ENSP00000365782:L383V;ENSP00000277082:L382V;ENSP00000365783:L382V	ENSP00000277082:L382V	L	+	1	0	CEP78	80056718	0.989000	0.36119	0.014000	0.15608	0.114000	0.19823	0.416000	0.21198	0.107000	0.17824	-0.136000	0.14681	CTT		0.418	CEP78-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000052766.2	XM_095991		7	11	0	0	0	1	0	7	11				
C9	735	broad.mit.edu	37	5	39311416	39311416	+	Missense_Mutation	SNP	C	C	T	rs147710831	byFrequency	TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr5:39311416C>T	ENST00000263408.4	-	7	1029	c.934G>A	c.(934-936)Gat>Aat	p.D312N		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	312	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			AGCACAACATCGCGATTTCTC	0.368													C|||	2	0.000399361	0.0	0.0	5008	,	,		19515	0.0		0.002	False		,,,				2504	0.0					ENST00000263408.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.(934-936)Gat>Aat		complement component 9		C	ASN/ASP	0,4406		0,0,2203	131.0	124.0	126.0		934	3.7	0.0	5	dbSNP_134	126	1,8599	1.2+/-3.3	0,1,4299	yes	missense	C9	NM_001737.3	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	312/560	39311416	1,13005	2203	4300	6503	SO:0001583	missense	735				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		g.chr5:39311416C>T		CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"""Complement system"""	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.934G>A	5.37:g.39311416C>T	ENSP00000263408:p.Asp312Asn						p.D312N	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	Epithelial(62;0.158)		7	1029	-	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	312			MACPF.			Missense_Mutation	SNP	ENST00000263408.4	37	c.934G>A	CCDS3929.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.71	2.018462	0.35606	0.0	1.16E-4	ENSG00000113600	ENST00000263408	D	0.84223	-1.82	5.48	3.71	0.42584	Membrane attack complex component/perforin (MACPF) domain (3);	0.578927	0.18814	N	0.130429	D	0.89708	0.6793	M	0.69358	2.11	0.09310	N	1	D	0.76494	0.999	D	0.63597	0.916	T	0.81870	-0.0734	10	0.56958	D	0.05	-8.2868	11.6578	0.51328	0.0:0.854:0.0:0.146	.	312	P02748	CO9_HUMAN	N	312	ENSP00000263408:D312N	ENSP00000263408:D312N	D	-	1	0	C9	39347173	0.000000	0.05858	0.004000	0.12327	0.120000	0.20174	0.702000	0.25631	0.689000	0.31550	0.563000	0.77884	GAT		0.368	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3			53	71	0	0	0	1	0	53	71				
PLA2G4C	8605	broad.mit.edu	37	19	48602939	48602939	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr19:48602939G>T	ENST00000599921.1	-	5	793	c.436C>A	c.(436-438)Caa>Aaa	p.Q146K	PLA2G4C_ENST00000413144.2_Missense_Mutation_p.Q146K|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.Q156K|PLA2G4C_ENST00000354276.3_Missense_Mutation_p.Q146K			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	146	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		TCTCTGGTTTGCTTAGAGATA	0.542																																						ENST00000354276.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38						c.(436-438)Caa>Aaa		phospholipase A2, group IVC (cytosolic, calcium-independent)							112.0	106.0	108.0					19																	48602939		2203	4300	6503	SO:0001583	missense	8605				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding	g.chr19:48602939G>T	AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.436C>A	19.37:g.48602939G>T	ENSP00000469473:p.Gln146Lys					PLA2G4C_ENST00000599921.1_Missense_Mutation_p.Q146K|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.Q156K|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.Q146K	p.Q146K	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)	5	763	-		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)	146			PLA2c.		B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Missense_Mutation	SNP	ENST00000599921.1	37	c.436C>A	CCDS12710.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.862819	0.51482	.	.	ENSG00000105499	ENST00000354276;ENST00000413144	T;T	0.04194	3.68;3.68	3.17	3.17	0.36434	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.735102	0.11827	U	0.525600	T	0.10508	0.0257	L	0.57536	1.79	0.09310	N	1	D;P;D	0.58620	0.983;0.775;0.967	P;B;P	0.50270	0.569;0.288;0.636	T	0.14227	-1.0480	10	0.66056	D	0.02	-4.6292	10.1426	0.42744	0.0:0.0:1.0:0.0	.	156;146;146	B4DI40;Q8WWC5;Q9UP65	.;.;PA24C_HUMAN	K	146	ENSP00000346228:Q146K;ENSP00000400036:Q146K	ENSP00000346228:Q146K	Q	-	1	0	PLA2G4C	53294751	0.368000	0.25031	0.167000	0.22817	0.709000	0.40893	1.431000	0.34925	1.477000	0.48234	0.411000	0.27672	CAA		0.542	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465551.1			5	67	1	0	0.014758	1	0.0150382	5	67				
FANCM	57697	broad.mit.edu	37	14	45628353	45628353	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr14:45628353C>T	ENST00000267430.5	+	9	1536	c.1451C>T	c.(1450-1452)tCa>tTa	p.S484L	FANCM_ENST00000556036.1_Missense_Mutation_p.S484L|FANCM_ENST00000542564.2_Missense_Mutation_p.S458L	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	484	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						ATCTTCTCTTCATTTCGAGAT	0.348								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(1450-1452)tCa>tTa	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							57.0	54.0	55.0					14																	45628353		2203	4300	6503	SO:0001583	missense	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45628353C>T	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.1451C>T	14.37:g.45628353C>T	ENSP00000267430:p.Ser484Leu					FANCM_ENST00000542564.2_Missense_Mutation_p.S458L|FANCM_ENST00000556036.1_Missense_Mutation_p.S484L	p.S484L	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN			9	1536	+			484			Helicase C-terminal.		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.1451C>T	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.195430	0.78902	.	.	ENSG00000187790	ENST00000556036;ENST00000267430;ENST00000542564;ENST00000556250	T;T;T;T	0.04758	3.56;3.56;3.56;3.56	5.39	5.39	0.77823	Helicase, C-terminal (1);	0.152597	0.46145	D	0.000309	T	0.18759	0.0450	M	0.78049	2.395	0.58432	D	0.999994	D;P;P	0.57257	0.979;0.58;0.732	P;B;B	0.55055	0.767;0.183;0.43	T	0.00237	-1.1890	10	0.72032	D	0.01	.	18.7593	0.91843	0.0:1.0:0.0:0.0	.	458;484;484	B2RTQ9;Q8IYD8;Q8IYD8-2	.;FANCM_HUMAN;.	L	484;484;458;69	ENSP00000450596:S484L;ENSP00000267430:S484L;ENSP00000442493:S458L;ENSP00000452033:S69L	ENSP00000267430:S484L	S	+	2	0	FANCM	44698103	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.528000	0.81941	2.517000	0.84864	0.563000	0.77884	TCA		0.348	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		39	9	0	0	0	1	0	39	9				
WDYHV1	55093	broad.mit.edu	37	8	124453639	124453639	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr8:124453639G>C	ENST00000287387.2	+	6	727	c.602G>C	c.(601-603)gGc>gCc	p.G201A	WDYHV1_ENST00000518125.1_Missense_Mutation_p.G53A|WDYHV1_ENST00000523356.1_3'UTR|WDYHV1_ENST00000517609.1_3'UTR|WDYHV1_ENST00000523984.1_Missense_Mutation_p.G141A	NM_018024.1	NP_060494.1	Q96HA8	NTAQ1_HUMAN	WDYHV motif containing 1	201					cellular protein modification process (GO:0006464)	cytosol (GO:0005829)|nucleus (GO:0005634)	protein-N-terminal glutamine amidohydrolase activity (GO:0070773)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(3)	17						CATCGGTTTGGCAGTAAAAAC	0.423																																						ENST00000523984.1																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(3)	17						c.(421-423)gGc>gCc		WDYHV motif containing 1							84.0	63.0	70.0					8																	124453639		2203	4300	6503	SO:0001583	missense	55093				protein modification process	cytosol|nucleus	protein binding|protein N-terminal glutamine amidohydrolase activity	g.chr8:124453639G>C	AK001066	CCDS6344.1, CCDS64965.1	8q24.13	2008-10-01	2008-10-01	2008-10-01		ENSG00000156795			25490	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 32"""	C8orf32		12477932	Standard	NM_018024		Approved	FLJ10204	uc003yqn.1	Q96HA8		ENST00000287387.2:c.602G>C	8.37:g.124453639G>C	ENSP00000287387:p.Gly201Ala					WDYHV1_ENST00000287387.2_Missense_Mutation_p.G201A|WDYHV1_ENST00000523356.1_3'UTR|WDYHV1_ENST00000518125.1_Missense_Mutation_p.G53A|WDYHV1_ENST00000517609.1_3'UTR	p.G141A			Q96HA8	NTAQ1_HUMAN			6	650	+			201					B4DE68|Q9NW95	Missense_Mutation	SNP	ENST00000287387.2	37	c.422G>C	CCDS6344.1	.	.	.	.	.	.	.	.	.	.	G	8.392	0.839854	0.16891	.	.	ENSG00000156795	ENST00000287387;ENST00000523984;ENST00000518125	T;T	0.21031	2.35;2.03	6.02	5.15	0.70609	Protein N-terminal glutamine amidohydrolase, alpha beta roll (1);	0.445708	0.25780	N	0.028343	T	0.17916	0.0430	L	0.37630	1.12	0.45541	D	0.998495	B	0.17465	0.022	B	0.20184	0.028	T	0.04870	-1.0921	10	0.17369	T	0.5	-13.3457	14.1886	0.65623	0.0724:0.0:0.9276:0.0	.	201	Q96HA8	NTAQ1_HUMAN	A	201;141;53	ENSP00000287387:G201A;ENSP00000430427:G141A	ENSP00000287387:G201A	G	+	2	0	WDYHV1	124522820	1.000000	0.71417	1.000000	0.80357	0.515000	0.34225	4.410000	0.59774	1.569000	0.49696	0.655000	0.94253	GGC		0.423	WDYHV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381772.1	NM_018024		20	9	0	0	0	1	0	20	9				
ZNF444	55311	broad.mit.edu	37	19	56671029	56671029	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr19:56671029G>A	ENST00000337080.3	+	5	810	c.443G>A	c.(442-444)gGg>gAg	p.G148E	ZNF444_ENST00000592171.1_3'UTR|ZNF444_ENST00000592949.1_Missense_Mutation_p.G147E	NM_001253792.1|NM_018337.3	NP_001240721.1|NP_060807.2	Q8N0Y2	ZN444_HUMAN	zinc finger protein 444	148					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|endometrium(1)|lung(5)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0531)		CCGGCGCCTGGGGACTCCCAG	0.726																																						ENST00000337080.3																			0				NS(1)|endometrium(1)|lung(5)	7						c.(442-444)gGg>gAg		zinc finger protein 444							2.0	3.0	3.0					19																	56671029		1651	3391	5042	SO:0001583	missense	55311				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56671029G>A	AB052954	CCDS12939.1, CCDS59426.1	19q13.43	2013-01-09			ENSG00000167685	ENSG00000167685		"""-"", ""Zinc fingers, C2H2-type"""	16052	protein-coding gene	gene with protein product		607874				11978792, 19760602	Standard	NM_001253792		Approved	ZSCAN17, FLJ11137, EZF2	uc002qmm.3	Q8N0Y2		ENST00000337080.3:c.443G>A	19.37:g.56671029G>A	ENSP00000338860:p.Gly148Glu					ZNF444_ENST00000592949.1_Missense_Mutation_p.G147E|ZNF444_ENST00000592171.1_3'UTR	p.G148E	NM_001253792.1|NM_018337.3	NP_001240721.1|NP_060807.2	Q8N0Y2	ZN444_HUMAN		GBM - Glioblastoma multiforme(193;0.0531)	5	810	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	148					Q8TEQ9|Q8WU35|Q9NUU1	Missense_Mutation	SNP	ENST00000337080.3	37	c.443G>A	CCDS12939.1	.	.	.	.	.	.	.	.	.	.	G	0.539	-0.854254	0.02630	.	.	ENSG00000167685	ENST00000337080	T	0.04758	3.56	3.41	1.13	0.20643	.	.	.	.	.	T	0.02455	0.0075	N	0.17082	0.46	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.47598	-0.9105	9	0.05436	T	0.98	.	6.0513	0.19787	0.2547:0.0:0.7453:0.0	.	147;148	Q8N0Y2-2;Q8N0Y2	.;ZN444_HUMAN	E	148	ENSP00000338860:G148E	ENSP00000338860:G148E	G	+	2	0	ZNF444	61362841	0.041000	0.20044	0.002000	0.10522	0.449000	0.32228	0.649000	0.24843	0.245000	0.21373	-0.379000	0.06801	GGG		0.726	ZNF444-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457503.1	NM_018337		3	0	0	0	0	1	0	3	0				
DHRS9	10170	broad.mit.edu	37	2	169938401	169938401	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr2:169938401A>G	ENST00000327239.4	+	5	1814	c.310A>G	c.(310-312)Aaa>Gaa	p.K104E	DHRS9_ENST00000421653.1_5'UTR|DHRS9_ENST00000412271.1_Missense_Mutation_p.K104E|DHRS9_ENST00000602501.1_Missense_Mutation_p.K104E|DHRS9_ENST00000357546.2_Missense_Mutation_p.K104E|DHRS9_ENST00000436483.2_Missense_Mutation_p.K104E|DHRS9_ENST00000428522.1_Missense_Mutation_p.K104E|DHRS9_ENST00000432060.2_Missense_Mutation_p.K164E	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	104					9-cis-retinoic acid biosynthetic process (GO:0042904)|androgen metabolic process (GO:0008209)|epithelial cell differentiation (GO:0030855)|progesterone metabolic process (GO:0042448)|retinol metabolic process (GO:0042572)	integral component of endoplasmic reticulum membrane (GO:0030176)	alcohol dehydrogenase (NAD) activity (GO:0004022)|racemase and epimerase activity (GO:0016854)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						AGTTGGGGAGAAAGGTGAGAG	0.493																																						ENST00000327239.4																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						c.(310-312)Aaa>Gaa		dehydrogenase/reductase (SDR family) member 9							37.0	37.0	37.0					2																	169938401		2203	4300	6503	SO:0001583	missense	10170				9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity	g.chr2:169938401A>G	AF067174	CCDS2231.1, CCDS74600.1	2q31.1	2011-09-14			ENSG00000073737	ENSG00000073737		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	16888	protein-coding gene	gene with protein product	"""NADP-dependent retinol dehydrogenase/reductase"", ""3-alpha hydroxysteroid dehydrogenase"", ""retinol dehydrogenase homolog"", ""short chain dehydrogenase/reductase family 9C, member 4"""	612131				11304534, 11294878, 19027726	Standard	NM_001142270		Approved	RDHL, 3alpha-HSD, RETSDR8, RDH15, SDR9C4	uc010zde.2	Q9BPW9	OTTHUMG00000132180	ENST00000327239.4:c.310A>G	2.37:g.169938401A>G	ENSP00000316670:p.Lys104Glu					DHRS9_ENST00000412271.1_Missense_Mutation_p.K104E|DHRS9_ENST00000357546.2_Missense_Mutation_p.K104E|DHRS9_ENST00000602501.1_Missense_Mutation_p.K104E|DHRS9_ENST00000436483.2_Missense_Mutation_p.K104E|DHRS9_ENST00000432060.2_Missense_Mutation_p.K164E|DHRS9_ENST00000421653.1_5'UTR|DHRS9_ENST00000428522.1_Missense_Mutation_p.K104E	p.K104E	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN			5	1814	+			104					B7Z416|D3DPC1|Q5RKX1|Q9NRA9|Q9NRB0	Missense_Mutation	SNP	ENST00000327239.4	37	c.310A>G	CCDS2231.1	.	.	.	.	.	.	.	.	.	.	A	15.04	2.714676	0.48622	.	.	ENSG00000073737	ENST00000327239;ENST00000357546;ENST00000432060;ENST00000428522;ENST00000436483;ENST00000412271	D;D;D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26;-2.26;-2.26	5.63	5.63	0.86233	NAD(P)-binding domain (1);	0.354936	0.34828	N	0.003659	D	0.82458	0.5041	L	0.37507	1.11	0.40872	D	0.983924	B;B	0.26935	0.097;0.164	B;B	0.33196	0.159;0.117	T	0.79911	-0.1603	10	0.40728	T	0.16	.	11.2295	0.48903	0.9265:0.0:0.0735:0.0	.	164;104	B7Z416;Q9BPW9	.;DHRS9_HUMAN	E	104;104;164;104;104;104	ENSP00000316670:K104E;ENSP00000350154:K104E;ENSP00000389241:K164E;ENSP00000388564:K104E;ENSP00000407167:K104E;ENSP00000407747:K104E	ENSP00000316670:K104E	K	+	1	0	DHRS9	169646647	0.972000	0.33761	1.000000	0.80357	0.816000	0.46133	1.305000	0.33493	2.273000	0.75805	0.482000	0.46254	AAA		0.493	DHRS9-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333612.3	NM_005771		16	46	0	0	0	1	0	16	46				
MAGI2	9863	broad.mit.edu	37	7	77764355	77764355	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr7:77764355C>T	ENST00000354212.4	-	17	3267	c.3014G>A	c.(3013-3015)cGc>cAc	p.R1005H	MAGI2_ENST00000419488.1_Missense_Mutation_p.R991H|MAGI2_ENST00000522391.1_Missense_Mutation_p.R1005H	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1005	PDZ 5. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				AGGAATGATGCGAAGGGTGAC	0.577																																						ENST00000354212.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(3013-3015)cGc>cAc		membrane associated guanylate kinase, WW and PDZ domain containing 2							207.0	149.0	168.0					7																	77764355		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77764355C>T	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.3014G>A	7.37:g.77764355C>T	ENSP00000346151:p.Arg1005His					MAGI2_ENST00000522391.1_Missense_Mutation_p.R1005H|MAGI2_ENST00000419488.1_Missense_Mutation_p.R991H	p.R1005H	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN			17	3267	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	1005			PDZ 5.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.3014G>A	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.705243	0.68615	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.26957	1.7;1.7;1.7	6.06	6.06	0.98353	PDZ/DHR/GLGF (4);	0.000000	0.37437	U	0.002099	T	0.26955	0.0660	L	0.38953	1.18	0.80722	D	1	B;B;B	0.16802	0.019;0.011;0.008	B;B;B	0.16289	0.015;0.011;0.006	T	0.02288	-1.1182	10	0.59425	D	0.04	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	1005;991;1005	E7EWI0;Q86UL8-2;Q86UL8	.;.;MAGI2_HUMAN	H	991;1005;1005;1005	ENSP00000405766:R991H;ENSP00000346151:R1005H;ENSP00000428389:R1005H	ENSP00000346151:R1005H	R	-	2	0	MAGI2	77602291	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.935000	0.56560	2.882000	0.98803	0.655000	0.94253	CGC		0.577	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		26	20	0	0	0	1	0	26	20				
FOXK2	3607	broad.mit.edu	37	17	80478021	80478021	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr17:80478021C>G	ENST00000335255.5	+	1	431	c.257C>G	c.(256-258)cCg>cGg	p.P86R		NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	86	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.|Gly-rich.			AAAAALSGAGTPPAGGGAGGGGAGGGGSPPGGWAVARLEGR EFEYLMKKRSVTIGRNSSQGSVDVSMGHSSFISRRHLEIFT PPGGGGHGGAAPELPPAQPRPDAGGDFYLRCLGKNG -> Q (in Ref. 1; CAA43200). {ECO:0000305}.	positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			TTCAcgcccccgggcggcggc	0.731																																						ENST00000335255.5																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17						c.(256-258)cCg>cGg		forkhead box K2							9.0	12.0	11.0					17																	80478021		2101	4167	6268	SO:0001583	missense	3607				embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr17:80478021C>G	U58196	CCDS11813.1	17q25	2006-12-15	2004-03-09	2004-03-10	ENSG00000141568	ENSG00000141568		"""Forkhead boxes"""	6036	protein-coding gene	gene with protein product		147685	"""interleukin enhancer binding factor 1"""	ILF, ILF1		3260003	Standard	NM_004514		Approved		uc002kfn.3	Q01167	OTTHUMG00000140374	ENST00000335255.5:c.257C>G	17.37:g.80478021C>G	ENSP00000335677:p.Pro86Arg						p.P86R	NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)		1	431	+	Breast(20;0.00106)|all_neural(118;0.0952)		86	AAAAALSGAGTPPAGGGAGGGGAGGGGSPPGGWAVARLEGR EFEYLMKKRSVTIGRNSSQGSVDVSMGHSSFISRRHLEIFT PPGGGGHGGAAPELPPAQPRPDAGGDFYLRCLGKNG -> Q (in Ref. 1; CAA43200).		FHA.|Gly-rich.		A6NEP5|Q13622|Q13623|Q13624	Missense_Mutation	SNP	ENST00000335255.5	37	c.257C>G	CCDS11813.1	.	.	.	.	.	.	.	.	.	.	.	9.527	1.109910	0.20714	.	.	ENSG00000141568	ENST00000335255;ENST00000335241	T	0.35789	1.29	3.62	0.403	0.16350	Forkhead-associated (FHA) domain (4);SMAD/FHA domain (1);	0.608297	0.14036	U	0.345758	T	0.12732	0.0309	N	0.03608	-0.345	0.25668	N	0.985928	B;B;B	0.25048	0.117;0.017;0.007	B;B;B	0.23716	0.041;0.048;0.047	T	0.21861	-1.0233	10	0.23891	T	0.37	.	3.1168	0.06377	0.2087:0.5552:0.0:0.2362	.	86;86;86	Q01167-3;Q01167;Q01167-2	.;FOXK2_HUMAN;.	R	86	ENSP00000335677:P86R	ENSP00000334321:P86R	P	+	2	0	FOXK2	78071310	1.000000	0.71417	0.384000	0.26145	0.141000	0.21300	3.676000	0.54612	-0.044000	0.13491	-0.291000	0.09656	CCG		0.731	FOXK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277099.2	NM_181430		11	10	0	0	0	1	0	11	10				
CNTN2	6900	broad.mit.edu	37	1	205039043	205039043	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr1:205039043G>A	ENST00000331830.4	+	18	2569	c.2285G>A	c.(2284-2286)cGg>cAg	p.R762Q		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	762	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CAGACCGCCCGGGTGCCTGGC	0.652																																					Melanoma(183;2548 2817 37099 41192)	ENST00000331830.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54						c.(2284-2286)cGg>cAg		contactin 2 (axonal)							91.0	94.0	93.0					1																	205039043		2203	4300	6503	SO:0001583	missense	6900				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	g.chr1:205039043G>A	X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.2285G>A	1.37:g.205039043G>A	ENSP00000330633:p.Arg762Gln						p.R762Q	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		18	2569	+	all_cancers(21;0.144)|Breast(84;0.0437)		762			Fibronectin type-III 2.		P78432|Q5T054	Missense_Mutation	SNP	ENST00000331830.4	37	c.2285G>A	CCDS1449.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.273706	0.40194	.	.	ENSG00000184144	ENST00000331830	T	0.56941	0.43	5.07	-0.926	0.10455	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.136846	0.30401	N	0.009703	T	0.40595	0.1123	L	0.41824	1.3	0.09310	N	1	B;P	0.40250	0.002;0.709	B;B	0.43082	0.009;0.407	T	0.32188	-0.9916	10	0.30854	T	0.27	.	7.8488	0.29442	0.3723:0.1077:0.5201:0.0	.	762;653	Q02246;Q68DA2	CNTN2_HUMAN;.	Q	762	ENSP00000330633:R762Q	ENSP00000330633:R762Q	R	+	2	0	CNTN2	203305666	0.013000	0.17824	0.993000	0.49108	0.951000	0.60555	0.079000	0.14782	-0.062000	0.13088	0.467000	0.42956	CGG		0.652	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076		121	119	0	0	0	1	0	121	119				
ANKRD30A	91074	broad.mit.edu	37	10	37422978	37422978	+	Missense_Mutation	SNP	A	A	T	rs376276298		TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr10:37422978A>T	ENST00000602533.1	+	5	683	c.584A>T	c.(583-585)cAt>cTt	p.H195L	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.H195L|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.H195L|RNU6-811P_ENST00000384069.1_RNA			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	251					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TGTGGATTTCATCAGTAAGTG	0.383																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(583-585)cAt>cTt		ankyrin repeat domain 30A							313.0	294.0	300.0					10																	37422978		1896	4101	5997	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37422978A>T	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.584A>T	10.37:g.37422978A>T	ENSP00000473551:p.His195Leu					ANKRD30A_ENST00000361713.1_Missense_Mutation_p.H195L|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.H195L	p.H195L			Q9BXX3	AN30A_HUMAN			5	683	+			251					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.584A>T		.	.	.	.	.	.	.	.	.	.	.	11.04	1.521864	0.27211	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.69435	-0.4;0.06	1.43	-2.65	0.06095	Ankyrin repeat-containing domain (3);	.	.	.	.	T	0.33030	0.0849	N	0.02539	-0.55	0.09310	N	1	B	0.26975	0.165	B	0.21708	0.036	T	0.18903	-1.0322	9	0.31617	T	0.26	.	5.5183	0.16918	0.3948:0.6052:0.0:0.0	.	251	Q9BXX3	AN30A_HUMAN	L	195	ENSP00000354432:H195L;ENSP00000363792:H195L	ENSP00000354432:H195L	H	+	2	0	ANKRD30A	37462984	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.190000	0.17057	-0.138000	0.11434	0.240000	0.17902	CAT		0.383	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		135	2793	0	0	0	1	0	135	2793				
LDHAL6B	92483	broad.mit.edu	37	15	59499903	59499903	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr15:59499903T>C	ENST00000307144.4	+	1	862	c.764T>C	c.(763-765)aTa>aCa	p.I255T	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	255					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10						GGAGTGAACATAGCTGGTGTC	0.448																																						ENST00000307144.4																			0				endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10						c.(763-765)aTa>aCa		lactate dehydrogenase A-like 6B	NADH(DB00157)						71.0	70.0	71.0					15																	59499903		2191	4290	6481	SO:0001583	missense	92483				glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding	g.chr15:59499903T>C	AY009108	CCDS10171.1	15q21.3	2011-01-27	2004-07-27	2004-07-28	ENSG00000171989	ENSG00000171989			21481	protein-coding gene	gene with protein product			"""lactate dehydrogenase A-like 6"""	LDHAL6		15870898	Standard	NM_033195		Approved	LDHL, LDH6B	uc002agb.4	Q9BYZ2	OTTHUMG00000132714	ENST00000307144.4:c.764T>C	15.37:g.59499903T>C	ENSP00000302393:p.Ile255Thr					MYO1E_ENST00000288235.4_Intron	p.I255T	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN			1	862	+			255					Q6DUY4|Q96LI2	Missense_Mutation	SNP	ENST00000307144.4	37	c.764T>C	CCDS10171.1	.	.	.	.	.	.	.	.	.	.	T	16.85	3.237132	0.58886	.	.	ENSG00000171989	ENST00000307144	T	0.66995	-0.24	1.47	1.47	0.22746	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.104775	0.40469	U	0.001083	T	0.74374	0.3708	M	0.88450	2.955	0.31463	N	0.669337	D	0.52996	0.957	P	0.51974	0.686	T	0.76318	-0.3003	10	0.87932	D	0	.	6.659	0.23004	0.0:0.0:0.0:1.0	.	255	Q9BYZ2	LDH6B_HUMAN	T	255	ENSP00000302393:I255T	ENSP00000302393:I255T	I	+	2	0	LDHAL6B	57287195	0.991000	0.36638	0.705000	0.30386	0.530000	0.34684	2.595000	0.46197	0.654000	0.30846	0.254000	0.18369	ATA		0.448	LDHAL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256015.1	NM_033195		34	58	0	0	0	1	0	34	58				
NALCN	259232	broad.mit.edu	37	13	101717876	101717876	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr13:101717876C>T	ENST00000251127.6	-	40	4565	c.4484G>A	c.(4483-4485)cGg>cAg	p.R1495Q		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1495					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACGCAGTAGCCGCAGCAGGAA	0.572																																						ENST00000251127.6																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(4483-4485)cGg>cAg		sodium leak channel, non-selective							94.0	76.0	82.0					13																	101717876		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101717876C>T	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.4484G>A	13.37:g.101717876C>T	ENSP00000251127:p.Arg1495Gln						p.R1495Q	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			40	4565	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		1495					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.4484G>A	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	36	5.737869	0.96865	.	.	ENSG00000102452	ENST00000251127	D	0.98075	-4.7	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.98267	0.9426	L	0.56199	1.76	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	D	0.98922	1.0784	10	0.56958	D	0.05	.	19.8625	0.96789	0.0:1.0:0.0:0.0	.	1495	Q8IZF0	NALCN_HUMAN	Q	1495	ENSP00000251127:R1495Q	ENSP00000251127:R1495Q	R	-	2	0	NALCN	100515877	1.000000	0.71417	0.990000	0.47175	0.971000	0.66376	7.487000	0.81328	2.689000	0.91719	0.655000	0.94253	CGG		0.572	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		88	19	0	0	0	1	0	88	19				
CPNE4	131034	broad.mit.edu	37	3	131624166	131624166	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr3:131624166A>T	ENST00000512055.1	-	6	2248	c.122T>A	c.(121-123)cTt>cAt	p.L41H	CPNE4_ENST00000429747.1_Missense_Mutation_p.L41H|CPNE4_ENST00000502818.1_Missense_Mutation_p.L59H|CPNE4_ENST00000511604.1_Missense_Mutation_p.L41H|CPNE4_ENST00000512332.1_Missense_Mutation_p.L59H			Q96A23	CPNE4_HUMAN	copine IV	41	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TGGTTTGGAAAGGGCATCTCT	0.517																																						ENST00000512055.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						c.(121-123)cTt>cAt		copine IV							127.0	114.0	118.0					3																	131624166		2203	4300	6503	SO:0001583	missense	131034							g.chr3:131624166A>T	H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"""copine 8"""	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.122T>A	3.37:g.131624166A>T	ENSP00000421705:p.Leu41His					CPNE4_ENST00000511604.1_Missense_Mutation_p.L41H|CPNE4_ENST00000502818.1_Missense_Mutation_p.L59H|CPNE4_ENST00000512332.1_Missense_Mutation_p.L59H|CPNE4_ENST00000429747.1_Missense_Mutation_p.L41H	p.L41H			Q96A23	CPNE4_HUMAN			6	2248	-			41			C2 1.		D3DNC5|Q8TEX1	Missense_Mutation	SNP	ENST00000512055.1	37	c.122T>A	CCDS3072.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.104298	0.76983	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818;ENST00000505881;ENST00000514999;ENST00000505957	T;T;T;T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;1.01	5.56	5.56	0.83823	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.84727	0.5536	M	0.89840	3.065	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	D	0.86872	0.2036	10	0.48119	T	0.1	-12.9276	15.7219	0.77718	1.0:0.0:0.0:0.0	.	59;41	Q96A23-2;Q96A23	.;CPNE4_HUMAN	H	41;41;59;41;59;41;41;41	ENSP00000421705:L41H;ENSP00000411904:L41H;ENSP00000424853:L59H;ENSP00000423811:L41H;ENSP00000421646:L59H;ENSP00000425506:L41H;ENSP00000427561:L41H;ENSP00000421394:L41H	ENSP00000411904:L41H	L	-	2	0	CPNE4	133106856	1.000000	0.71417	0.997000	0.53966	0.938000	0.57974	8.962000	0.93254	2.112000	0.64535	0.533000	0.62120	CTT		0.517	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356583.4	NM_130808		59	75	0	0	0	1	0	59	75				
INO80B	83444	broad.mit.edu	37	2	74684886	74684886	+	Silent	SNP	C	C	T			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr2:74684886C>T	ENST00000233331.7	+	5	1060	c.966C>T	c.(964-966)tgC>tgT	p.C322C	WBP1_ENST00000233615.2_5'Flank|WBP1_ENST00000393972.3_5'Flank|WBP1_ENST00000409737.1_5'Flank	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN	INO80 complex subunit B	322					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						GCTACGCTTGCTCCCGCACAG	0.706																																						ENST00000233331.7																			0				endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						c.(964-966)tgC>tgT		INO80 complex subunit B							16.0	18.0	17.0					2																	74684886		2167	4224	6391	SO:0001819	synonymous_variant	83444				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding	g.chr2:74684886C>T	AB054538	CCDS1942.2	2p13.1	2011-07-06	2008-08-07	2008-08-07	ENSG00000115274	ENSG00000115274		"""Zinc fingers, HIT-type"", ""INO80 complex subunits"""	13324	protein-coding gene	gene with protein product	"""PAP-1 binding protein"", ""IES2 homolog (S. cerevisiae)"""		"""high mobility group AT-hook 1-like 4"", ""zinc finger, HIT type 4"""	HMGA1L4, ZNHIT4		16230350	Standard	NM_031288		Approved	HMGIYL4, PAPA-1, hIes2, PAP-1BP, IES2	uc002slg.3	Q9C086	OTTHUMG00000129959	ENST00000233331.7:c.966C>T	2.37:g.74684886C>T							p.C322C	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN			5	1060	+			322						Silent	SNP	ENST00000233331.7	37	c.966C>T	CCDS1942.2																																																																																				0.706	INO80B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252223.2	NM_031288		18	24	0	0	0	1	0	18	24				
SYNJ2	8871	broad.mit.edu	37	6	158449877	158449877	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr6:158449877A>G	ENST00000355585.4	+	3	379	c.304A>G	c.(304-306)Act>Gct	p.T102A	SYNJ2_ENST00000449859.2_Missense_Mutation_p.T51A|SYNJ2_ENST00000367121.3_Missense_Mutation_p.T102A|SYNJ2_ENST00000367122.2_Missense_Mutation_p.T102A	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	102					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		AATCACTGCCACTGACTTTTA	0.498																																						ENST00000355585.4																			0				biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(304-306)Act>Gct		synaptojanin 2							77.0	79.0	79.0					6																	158449877		2203	4300	6503	SO:0001583	missense	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158449877A>G	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.304A>G	6.37:g.158449877A>G	ENSP00000347792:p.Thr102Ala					SYNJ2_ENST00000367122.2_Missense_Mutation_p.T102A|SYNJ2_ENST00000449859.2_Missense_Mutation_p.T51A|SYNJ2_ENST00000367121.3_Missense_Mutation_p.T102A	p.T102A	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	3	379	+			102					Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	ENST00000355585.4	37	c.304A>G	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	A	11.84	1.758651	0.31137	.	.	ENSG00000078269	ENST00000367122;ENST00000367121;ENST00000355585;ENST00000449320;ENST00000449859	T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32	4.87	-0.148	0.13424	Synaptojanin, N-terminal (1);	0.853258	0.10308	N	0.690363	T	0.49490	0.1560	M	0.88450	2.955	0.24015	N	0.99616	B;B;B;B	0.33448	0.412;0.161;0.412;0.18	B;B;B;B	0.39339	0.175;0.297;0.243;0.157	T	0.56649	-0.7944	10	0.66056	D	0.02	.	9.8693	0.41164	0.6924:0.0:0.3076:0.0	.	51;102;102;102	B4DJU8;E7ER60;O15056;O15056-3	.;.;SYNJ2_HUMAN;.	A	102;102;102;51;51	ENSP00000356089:T102A;ENSP00000356088:T102A;ENSP00000347792:T102A;ENSP00000411202:T51A;ENSP00000388371:T51A	ENSP00000347792:T102A	T	+	1	0	SYNJ2	158369865	0.997000	0.39634	0.031000	0.17742	0.415000	0.31203	3.319000	0.51983	-0.234000	0.09782	0.655000	0.94253	ACT		0.498	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			29	56	0	0	0	1	0	29	56				
LARP1B	55132	broad.mit.edu	37	4	129012524	129012524	+	Silent	SNP	T	T	C			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr4:129012524T>C	ENST00000326639.6	+	7	736	c.525T>C	c.(523-525)ggT>ggC	p.G175G	LARP1B_ENST00000441387.1_Silent_p.G175G|LARP1B_ENST00000394288.3_Silent_p.G175G|LARP1B_ENST00000264584.5_Silent_p.G128G|LARP1B_ENST00000432347.2_Silent_p.G175G|LARP1B_ENST00000512292.1_Silent_p.G175G|LARP1B_ENST00000427266.1_Silent_p.G175G|LARP1B_ENST00000354456.3_5'UTR	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	175						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						ATTCATATGGTTATCAAGAAC	0.313																																						ENST00000326639.6																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						c.(523-525)ggT>ggC		La ribonucleoprotein domain family, member 1B							87.0	84.0	85.0					4																	129012524		2203	4300	6503	SO:0001819	synonymous_variant	55132						RNA binding	g.chr4:129012524T>C		CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"""La ribonucleoprotein domain containing"""	24704	protein-coding gene	gene with protein product			"""La ribonucleoprotein domain family, member 2"""	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.525T>C	4.37:g.129012524T>C						LARP1B_ENST00000441387.1_Silent_p.G175G|LARP1B_ENST00000264584.5_Silent_p.G128G|LARP1B_ENST00000394288.3_Silent_p.G175G|LARP1B_ENST00000432347.2_Silent_p.G175G|LARP1B_ENST00000427266.1_Silent_p.G175G|LARP1B_ENST00000512292.1_Silent_p.G175G|LARP1B_ENST00000354456.3_5'UTR	p.G175G	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN			7	736	+			175					Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Silent	SNP	ENST00000326639.6	37	c.525T>C	CCDS3738.1																																																																																				0.313	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257173.2	NM_018078		30	15	0	0	0	1	0	30	15				
DAB1	1600	broad.mit.edu	37	1	57535057	57535057	+	Silent	SNP	G	G	T			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr1:57535057G>T	ENST00000371231.1	-	7	673	c.639C>A	c.(637-639)ccC>ccA	p.P213P	DAB1_ENST00000414851.2_Intron|DAB1_ENST00000371234.4_Silent_p.P213P|DAB1_ENST00000420954.2_Intron|DAB1_ENST00000371236.2_Silent_p.P213P|DAB1_ENST00000439789.2_Intron|DAB1_ENST00000485760.1_5'UTR			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	213					adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CTTCCGTTTCGGGATCACGGA	0.408																																						ENST00000371236.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						c.(637-639)ccC>ccA		Dab, reelin signal transducer, homolog 1 (Drosophila)							151.0	137.0	142.0					1																	57535057		2203	4300	6503	SO:0001819	synonymous_variant	1600				cell differentiation|nervous system development			g.chr1:57535057G>T	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.639C>A	1.37:g.57535057G>T						DAB1_ENST00000371234.4_Silent_p.P213P|DAB1_ENST00000420954.2_Intron|DAB1_ENST00000371231.1_Silent_p.P213P|DAB1_ENST00000414851.2_Intron|DAB1_ENST00000439789.2_Intron|DAB1_ENST00000485760.1_5'UTR	p.P213P			O75553	DAB1_HUMAN			8	902	-			213					A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Silent	SNP	ENST00000371231.1	37	c.639C>A																																																																																					0.408	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080		15	74	1	0	3.32936e-07	1	3.54985e-07	15	74				
ALB	213	broad.mit.edu	37	4	74283319	74283319	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr4:74283319T>A	ENST00000503124.1	+	9	1118	c.911T>A	c.(910-912)cTa>cAa	p.L304Q	ALB_ENST00000509063.1_Missense_Mutation_p.L454Q|ALB_ENST00000415165.2_Missense_Mutation_p.L262Q|ALB_ENST00000401494.3_Missense_Mutation_p.L339Q|ALB_ENST00000295897.4_Missense_Mutation_p.L454Q|ALB_ENST00000505649.1_Intron			Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCAAGAAACCTAGGAAAAGTG	0.363																																						ENST00000295897.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48						c.(1360-1362)cTa>cAa		albumin	Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)						71.0	75.0	74.0					4																	74283319		2203	4300	6503	SO:0001583	missense	213				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	g.chr4:74283319T>A	V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000503124.1:c.911T>A	4.37:g.74283319T>A	ENSP00000421027:p.Leu304Gln					ALB_ENST00000401494.3_Missense_Mutation_p.L339Q|ALB_ENST00000415165.2_Missense_Mutation_p.L262Q|ALB_ENST00000505649.1_Intron|ALB_ENST00000509063.1_Missense_Mutation_p.L454Q|ALB_ENST00000503124.1_Missense_Mutation_p.L304Q	p.L454Q	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		11	1450	+	Breast(15;0.00102)		454			Albumin 3.		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000503124.1	37	c.1361T>A		.	.	.	.	.	.	.	.	.	.	T	19.04	3.750185	0.69533	.	.	ENSG00000163631	ENST00000295897;ENST00000415165;ENST00000329326;ENST00000503124;ENST00000509063;ENST00000401494;ENST00000430202	T;T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82;-0.82	5.5	5.5	0.81552	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.270197	0.29493	N	0.011996	D	0.85940	0.5814	M	0.76838	2.35	0.09310	N	0.999998	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.996;0.996;0.991;0.993	T	0.80046	-0.1546	10	0.87932	D	0	-9.0139	14.4649	0.67477	0.0:0.0:0.0:1.0	.	339;262;304;454;454	B7WNR0;C9JKR2;D6RHD5;A6NBZ8;P02768	.;.;.;.;ALBU_HUMAN	Q	454;262;241;304;454;339;463	ENSP00000295897:L454Q;ENSP00000401820:L262Q;ENSP00000421027:L304Q;ENSP00000422784:L454Q;ENSP00000384695:L339Q	ENSP00000295897:L454Q	L	+	2	0	ALB	74502183	0.926000	0.31397	0.056000	0.19401	0.094000	0.18550	4.872000	0.63050	2.094000	0.63399	0.528000	0.53228	CTA		0.363	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365419.1	NM_000477		25	26	0	0	0	1	0	25	26				
SOS1	6654	broad.mit.edu	37	2	39281904	39281904	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr2:39281904C>T	ENST00000426016.1	-	6	657	c.571G>A	c.(571-573)Gaa>Aaa	p.E191K	SOS1_ENST00000428721.2_Missense_Mutation_p.E134K|SOS1_ENST00000402219.2_Missense_Mutation_p.E191K|SOS1_ENST00000395038.2_Missense_Mutation_p.E191K			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	191					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				GAAGGCTCTTCGTCAGTTAAA	0.279									Noonan syndrome																													ENST00000426016.1																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75						c.(571-573)Gaa>Aaa		son of sevenless homolog 1 (Drosophila)							81.0	94.0	90.0					2																	39281904		2203	4296	6499	SO:0001583	missense	6654	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39281904C>T	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.571G>A	2.37:g.39281904C>T	ENSP00000387784:p.Glu191Lys					SOS1_ENST00000428721.2_Missense_Mutation_p.E134K|SOS1_ENST00000402219.2_Missense_Mutation_p.E191K|SOS1_ENST00000395038.2_Missense_Mutation_p.E191K	p.E191K			Q07889	SOS1_HUMAN			6	657	-		all_hematologic(82;0.21)	191					A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	c.571G>A	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.738357	0.89573	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000395038;ENST00000263879;ENST00000428721	T;T;T;D	0.96265	-1.1;-1.1;-1.23;-3.96	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.96185	0.8756	L	0.36672	1.1	0.80722	D	1	D	0.61697	0.99	P	0.55965	0.788	D	0.94985	0.8129	10	0.33141	T	0.24	.	20.2187	0.98312	0.0:1.0:0.0:0.0	.	191	Q07889	SOS1_HUMAN	K	191;191;191;191;134	ENSP00000387784:E191K;ENSP00000384675:E191K;ENSP00000378479:E191K;ENSP00000399992:E134K	ENSP00000263879:E191K	E	-	1	0	SOS1	39135408	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.228000	0.78079	2.780000	0.95670	0.655000	0.94253	GAA		0.279	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		63	105	0	0	0	1	0	63	105				
MSANTD4	84437	broad.mit.edu	37	11	105880545	105880545	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr11:105880545A>C	ENST00000301919.4	-	3	2170	c.755T>G	c.(754-756)cTa>cGa	p.L252R	MSANTD4_ENST00000529805.1_5'Flank	NM_032424.1	NP_115800.1	Q8NCY6	MSD4_HUMAN	Myb/SANT-like DNA-binding domain containing 4 with coiled-coils	252						nucleus (GO:0005634)											CTCCTTCTCTAGCTGAAGCCG	0.463																																						ENST00000301919.4																			0											c.(754-756)cTa>cGa		Myb/SANT-like DNA-binding domain containing 4 with coiled-coils							88.0	86.0	87.0					11																	105880545		2201	4299	6500	SO:0001583	missense	84437					nucleus		g.chr11:105880545A>C	AB058729	CCDS31663.1	11q22	2012-03-13	2012-03-13	2012-03-13	ENSG00000170903	ENSG00000170903			29383	protein-coding gene	gene with protein product			"""KIAA1826"""	KIAA1826			Standard	XM_005271697		Approved		uc001piz.3	Q8NCY6	OTTHUMG00000166240	ENST00000301919.4:c.755T>G	11.37:g.105880545A>C	ENSP00000304713:p.Leu252Arg						p.L252R	NM_032424.1	NP_115800.1	Q8NCY6	K1826_HUMAN			3	2170	-			252					Q96JK1|Q96JZ3|Q9H2N4	Missense_Mutation	SNP	ENST00000301919.4	37	c.755T>G	CCDS31663.1	.	.	.	.	.	.	.	.	.	.	A	15.57	2.873746	0.51695	.	.	ENSG00000170903	ENST00000301919	.	.	.	5.34	5.34	0.76211	.	0.155786	0.43747	D	0.000531	T	0.50257	0.1605	L	0.29908	0.895	0.49051	D	0.999745	P	0.39326	0.668	B	0.41271	0.352	T	0.52003	-0.8633	9	0.42905	T	0.14	-11.8286	15.5936	0.76558	1.0:0.0:0.0:0.0	.	252	Q8NCY6	K1826_HUMAN	R	252	.	ENSP00000304713:L252R	L	-	2	0	KIAA1826	105385755	1.000000	0.71417	1.000000	0.80357	0.518000	0.34316	8.147000	0.89628	2.144000	0.66660	0.402000	0.26972	CTA		0.463	MSANTD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388619.1	NM_032424		49	95	0	0	0	1	0	49	95				
RIC1	57589	broad.mit.edu	37	9	5763392	5763392	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr9:5763392C>T	ENST00000414202.2	+	19	2556	c.2365C>T	c.(2365-2367)Ctt>Ttt	p.L789F	KIAA1432_ENST00000449720.2_Missense_Mutation_p.L673F|KIAA1432_ENST00000418622.3_Missense_Mutation_p.L710F|KIAA1432_ENST00000251879.6_Missense_Mutation_p.L789F|KIAA1432_ENST00000381532.2_Missense_Mutation_p.L710F	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		TGCTTTAGTCCTTGGTGCTGT	0.473																																						ENST00000414202.2																			0				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45						c.(2365-2367)Ctt>Ttt		KIAA1432							273.0	260.0	264.0					9																	5763392		2203	4300	6503	SO:0001583	missense	57589					integral to membrane		g.chr9:5763392C>T																												ENST00000414202.2:c.2365C>T	9.37:g.5763392C>T	ENSP00000416696:p.Leu789Phe					KIAA1432_ENST00000251879.6_Missense_Mutation_p.L789F|KIAA1432_ENST00000381532.2_Missense_Mutation_p.L710F|KIAA1432_ENST00000449720.2_Missense_Mutation_p.L673F|KIAA1432_ENST00000418622.3_Missense_Mutation_p.L710F	p.L789F	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	19	2556	+		Acute lymphoblastic leukemia(23;0.154)	789						Missense_Mutation	SNP	ENST00000414202.2	37	c.2365C>T	CCDS34982.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.8|23.8	4.453465|4.453465	0.84209|0.84209	.|.	.|.	ENSG00000107036|ENSG00000107036	ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720|ENST00000545641	.|.	.|.	.|.	5.78|5.78	5.78|5.78	0.91487|0.91487	Ribosome control protein 1 (1);|.	0.056704|.	0.64402|.	D|.	0.000001|.	D|D	0.82277|0.82277	0.5002|0.5002	M|M	0.82132|0.82132	2.575|2.575	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	0.999;1.0;1.0;0.999|.	T|T	0.81947|0.81947	-0.0700|-0.0700	9|5	0.48119|.	T|.	0.1|.	-17.1796|-17.1796	20.0079|20.0079	0.97439|0.97439	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	673;710;789;789|.	B7ZM67;B2RN24;Q4ADV7;G5E932|.	.;.;RIC1_HUMAN;.|.	F|L	789;789;710;710;673|680	.|.	ENSP00000251879:L789F|.	L|P	+|+	1|2	0|0	KIAA1432|KIAA1432	5753392|5753392	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.487000|7.487000	0.81328|0.81328	2.726000|2.726000	0.93360|0.93360	0.561000|0.561000	0.74099|0.74099	CTT|CCT		0.473	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			168	91	0	0	0	1	0	168	91				
CACNA1B	774	broad.mit.edu	37	9	140811698	140811698	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr9:140811698G>A	ENST00000371372.1	+	6	926	c.781G>A	c.(781-783)Gag>Aag	p.E261K	CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371355.4_Missense_Mutation_p.E261K|CACNA1B_ENST00000371357.1_Missense_Mutation_p.E261K|CACNA1B_ENST00000277551.2_Missense_Mutation_p.E261K|CACNA1B_ENST00000371363.1_Missense_Mutation_p.E261K	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	261					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	TGCAGATGCGGAGCCCGTGGG	0.612																																						ENST00000371372.1																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(781-783)Gag>Aag		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						69.0	77.0	74.0					9																	140811698		2020	4178	6198	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140811698G>A	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.781G>A	9.37:g.140811698G>A	ENSP00000360423:p.Glu261Lys					CACNA1B_ENST00000277551.2_Missense_Mutation_p.E261K|CACNA1B_ENST00000371363.1_Missense_Mutation_p.E261K|CACNA1B_ENST00000371355.4_Missense_Mutation_p.E261K|CACNA1B_ENST00000371357.1_Missense_Mutation_p.E261K|CACNA1B_ENST00000277549.5_5'UTR	p.E261K	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	6	926	+	all_cancers(76;0.166)		261					B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.781G>A	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.760704	0.31137	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.96651	-4.08;-4.08;-4.08;-4.08;-4.08	4.86	4.86	0.63082	.	0.428590	0.24345	N	0.039332	D	0.94981	0.8376	M	0.81614	2.55	0.80722	D	1	P	0.36683	0.565	B	0.33846	0.171	D	0.93693	0.7009	10	0.27785	T	0.31	.	12.7741	0.57437	0.0797:0.0:0.9203:0.0	.	261	B1AQK6	.	K	261	ENSP00000360423:E261K;ENSP00000277551:E261K;ENSP00000360414:E261K;ENSP00000360408:E261K;ENSP00000360406:E261K	ENSP00000277551:E261K	E	+	1	0	CACNA1B	139931519	0.976000	0.34144	0.303000	0.25071	0.036000	0.12997	2.596000	0.46205	2.389000	0.81357	0.655000	0.94253	GAG		0.612	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		30	48	0	0	0	1	0	30	48				
DLGAP2	9228	broad.mit.edu	37	8	1496892	1496892	+	Silent	SNP	G	G	A			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr8:1496892G>A	ENST00000421627.2	+	2	167	c.33G>A	c.(31-33)ccG>ccA	p.P11P		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	90					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GGACCCAGCCGCCGCTGTGTT	0.706																																						ENST00000421627.2																			0				breast(1)|endometrium(6)|lung(31)|prostate(3)	41						c.(31-33)ccG>ccA		discs, large (Drosophila) homolog-associated protein 2							8.0	10.0	9.0					8																	1496892		1612	3372	4984	SO:0001819	synonymous_variant	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1496892G>A	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.33G>A	8.37:g.1496892G>A							p.P11P	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	2	167	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	90					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Silent	SNP	ENST00000421627.2	37	c.33G>A	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	G	7.447	0.641798	0.14451	.	.	ENSG00000198010	ENST00000520901	.	.	.	4.83	-9.67	0.00531	.	.	.	.	.	T	0.42449	0.1203	.	.	.	0.50813	D	0.999896	.	.	.	.	.	.	T	0.49661	-0.8916	4	.	.	.	-11.0998	5.4328	0.16463	0.5115:0.3118:0.0954:0.0814	.	.	.	.	H	28	.	.	R	+	2	0	DLGAP2	1484299	0.209000	0.23505	0.000000	0.03702	0.648000	0.38561	-0.373000	0.07494	-2.498000	0.00512	0.561000	0.74099	CGC		0.706	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		7	3	0	0	0	1	0	7	3				
PRKD1	5587	broad.mit.edu	37	14	30046468	30046468	+	Silent	SNP	G	G	A			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr14:30046468G>A	ENST00000331968.5	-	18	2944	c.2715C>T	c.(2713-2715)ctC>ctT	p.L905L	PRKD1_ENST00000415220.2_Silent_p.L913L	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	905					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CACGCTCACCGAGGGCTTTCA	0.478																																						ENST00000331968.5																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78						c.(2713-2715)ctC>ctT		protein kinase D1							121.0	103.0	109.0					14																	30046468		2203	4300	6503	SO:0001819	synonymous_variant	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30046468G>A		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2715C>T	14.37:g.30046468G>A						PRKD1_ENST00000415220.2_Silent_p.L913L	p.L905L	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	18	2944	-	Hepatocellular(127;0.0604)		905					A6NL64|B2RAF6	Silent	SNP	ENST00000331968.5	37	c.2715C>T	CCDS9637.1																																																																																				0.478	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		46	13	0	0	0	1	0	46	13				
PCDHB18	54660	broad.mit.edu	37	5	140615733	140615733	+	RNA	SNP	A	A	G	rs2907306	byFrequency	TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr5:140615733A>G	ENST00000526308.1	+	0	1796					NR_001281.1		Q96TA0	PCDBI_HUMAN	protocadherin beta 18 pseudogene						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						GCCGCAGACCACGGCTCCCCG	0.667													G|||	1160	0.231629	0.4773	0.1527	5008	,	,		16616	0.0933		0.162	False		,,,				2504	0.1697					ENST00000526308.1																			0				endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18																																														54660							g.chr5:140615733A>G	AF152528		5q31.3	2014-03-20			ENSG00000146001	ENSG00000146001		"""Cadherins / Protocadherins : Clustered"""	14548	pseudogene	pseudogene						10380929	Standard	NR_001281		Approved	PCDH-psi2	uc003ljc.1	Q96TA0	OTTHUMG00000167484		5.37:g.140615733A>G								NR_001281.1						0	1796	+								B3KTF8	RNA	SNP	ENST00000526308.1	37																																																																																						0.667	PCDHB18-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000394776.1			6	90	0	0	0	1	0	6	90				
LTBP1	4052	broad.mit.edu	37	2	33585721	33585721	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr2:33585721T>A	ENST00000404816.2	+	27	4411	c.4058T>A	c.(4057-4059)cTc>cAc	p.L1353H	LTBP1_ENST00000390003.4_Missense_Mutation_p.L1028H|LTBP1_ENST00000418533.2_Missense_Mutation_p.L985H|LTBP1_ENST00000407925.1_Missense_Mutation_p.L1027H|LTBP1_ENST00000354476.3_Missense_Mutation_p.L1354H|LTBP1_ENST00000404525.1_Missense_Mutation_p.L974H|LTBP1_ENST00000402934.1_Missense_Mutation_p.L972H|LTBP1_ENST00000272273.5_Missense_Mutation_p.L251H			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1353	TB 3.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TACTATAATCTCAATGACGCC	0.418																																						ENST00000404816.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108						c.(4057-4059)cTc>cAc		latent transforming growth factor beta binding protein 1							114.0	109.0	110.0					2																	33585721		2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33585721T>A		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.4058T>A	2.37:g.33585721T>A	ENSP00000386043:p.Leu1353His					LTBP1_ENST00000402934.1_Missense_Mutation_p.L972H|LTBP1_ENST00000390003.4_Missense_Mutation_p.L1028H|LTBP1_ENST00000404525.1_Missense_Mutation_p.L974H|LTBP1_ENST00000272273.5_Missense_Mutation_p.L251H|LTBP1_ENST00000418533.2_Missense_Mutation_p.L985H|LTBP1_ENST00000354476.3_Missense_Mutation_p.L1354H|LTBP1_ENST00000407925.1_Missense_Mutation_p.L1027H	p.L1353H			Q14766	LTBP1_HUMAN			27	4411	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	1353			TB 3.		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.4058T>A	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	T	21.4	4.149520	0.78001	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000272273;ENST00000422669	D;D;D;D;D;D;D;D;D	0.93307	-3.2;-3.2;-3.2;-3.2;-3.2;-3.2;-3.2;-3.2;-3.2	5.06	5.06	0.68205	Matrix fibril-associated (2);TGF-beta binding (1);	.	.	.	.	D	0.94742	0.8303	L	0.45698	1.435	0.51012	D	0.999902	D;D;D;P;D;D;D	0.89917	0.999;1.0;1.0;0.654;1.0;1.0;1.0	D;D;D;B;D;D;D	0.77004	0.935;0.976;0.959;0.426;0.982;0.982;0.989	D	0.93297	0.6673	9	0.25106	T	0.35	.	15.1142	0.72388	0.0:0.0:0.0:1.0	.	251;1353;985;974;1027;1028;1354	E7EUU6;Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	.;LTBP1_HUMAN;.;.;.;.;.	H	1353;1354;1028;985;972;974;1027;251;189	ENSP00000386043:L1353H;ENSP00000346467:L1354H;ENSP00000374653:L1028H;ENSP00000393057:L985H;ENSP00000384373:L972H;ENSP00000385359:L974H;ENSP00000384091:L1027H;ENSP00000272273:L251H;ENSP00000395211:L189H	ENSP00000272273:L251H	L	+	2	0	LTBP1	33439225	1.000000	0.71417	0.937000	0.37676	0.926000	0.56050	7.941000	0.87700	2.029000	0.59856	0.460000	0.39030	CTC		0.418	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		36	83	0	0	0	1	0	36	83				
IGKV1D-8	28904	broad.mit.edu	37	2	90260018	90260018	+	RNA	SNP	G	G	A			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr2:90260018G>A	ENST00000471857.1	+	0	302									immunoglobulin kappa variable 1D-8																		AGGAGACAGAGTCACCATCAG	0.463																																						ENST00000471857.1																			0																				106.0	107.0	107.0					2																	90260018		1951	4146	6097			28904							g.chr2:90260018G>A	Z00008		2p11.2	2012-02-08			ENSG00000239819	ENSG00000239819		"""Immunoglobulins / IGK locus"""	5759	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151570		2.37:g.90260018G>A														0	302	+									RNA	SNP	ENST00000471857.1	37																																																																																						0.463	IGKV1D-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323145.2	NG_000833		57	110	0	0	0	1	0	57	110				
COL5A1	1289	broad.mit.edu	37	9	137694768	137694768	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr9:137694768G>A	ENST00000371817.3	+	39	3455	c.3041G>A	c.(3040-3042)cGt>cAt	p.R1014H		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1014	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ATGGGTGAGCGTGGCCACCCT	0.602																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(3040-3042)cGt>cAt		collagen, type V, alpha 1							24.0	27.0	26.0					9																	137694768		2198	4297	6495	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137694768G>A	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.3041G>A	9.37:g.137694768G>A	ENSP00000360882:p.Arg1014His						p.R1014H	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	39	3455	+		Myeloproliferative disorder(178;0.0341)	1014			Triple-helical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.3041G>A	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.439186	0.83885	.	.	ENSG00000130635	ENST00000371817	D	0.94280	-3.39	4.39	4.39	0.52855	.	0.000000	0.64402	U	0.000001	D	0.96358	0.8812	M	0.74467	2.265	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.97024	0.9745	10	0.72032	D	0.01	.	17.3375	0.87286	0.0:0.0:1.0:0.0	.	1014	P20908	CO5A1_HUMAN	H	1014	ENSP00000360882:R1014H	ENSP00000360882:R1014H	R	+	2	0	COL5A1	136834589	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.755000	0.85180	2.158000	0.67659	0.551000	0.68910	CGT		0.602	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		10	10	0	0	0	1	0	10	10				
SOCS2	8835	broad.mit.edu	37	12	93968823	93968823	+	Silent	SNP	G	G	A			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr12:93968823G>A	ENST00000340600.2	+	3	1063	c.465G>A	c.(463-465)ccG>ccA	p.P155P	SOCS2_ENST00000551556.1_Silent_p.P155P|SOCS2_ENST00000549206.1_Silent_p.P155P|SOCS2_ENST00000536696.2_Silent_p.P155P|SOCS2_ENST00000549122.1_Silent_p.P155P|SOCS2_ENST00000548537.1_3'UTR	NM_001270468.1|NM_001270469.1|NM_001270471.1|NM_003877.4	NP_001257397.1|NP_001257398.1|NP_001257400.1|NP_003868.1	O14508	SOCS2_HUMAN	suppressor of cytokine signaling 2	155	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.|SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				cellular response to hormone stimulus (GO:0032870)|growth hormone receptor signaling pathway (GO:0060396)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of signal transduction (GO:0009967)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of signal transduction (GO:0009966)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	growth hormone receptor binding (GO:0005131)|insulin-like growth factor receptor binding (GO:0005159)|JAK pathway signal transduction adaptor activity (GO:0008269)|SH3/SH2 adaptor activity (GO:0005070)	p.P155P(1)		cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)	14						TGACCAAACCGCTCTACACGT	0.502																																						ENST00000340600.2																			1	Substitution - coding silent(1)	p.P155P(1)	endometrium(1)	cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)	14						c.(463-465)ccG>ccA		suppressor of cytokine signaling 2							91.0	83.0	86.0					12																	93968823		2203	4300	6503	SO:0001819	synonymous_variant	8835				anti-apoptosis|growth hormone receptor signaling pathway|JAK-STAT cascade|negative regulation of signal transduction|regulation of cell growth|response to estradiol stimulus	cytoplasm	growth hormone receptor binding|insulin-like growth factor receptor binding|JAK pathway signal transduction adaptor activity|prolactin receptor binding|SH3/SH2 adaptor activity	g.chr12:93968823G>A	AF037989	CCDS9047.1	12q	2013-02-14			ENSG00000120833	ENSG00000120833		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19382	protein-coding gene	gene with protein product	"""STAT-induced STAT inhibitor-2"""	605117				9344848, 9266833	Standard	NM_003877		Approved	STATI2, SSI2, SOCS-2, SSI-2, CIS2, Cish2	uc031qjc.1	O14508		ENST00000340600.2:c.465G>A	12.37:g.93968823G>A						SOCS2_ENST00000549122.1_Silent_p.P155P|SOCS2_ENST00000549206.1_Silent_p.P155P|SOCS2_ENST00000548537.1_3'UTR|SOCS2_ENST00000536696.2_Silent_p.P155P|SOCS2_ENST00000551556.1_Silent_p.P155P	p.P155P	NM_001270468.1|NM_001270469.1|NM_001270471.1|NM_003877.4	NP_001257397.1|NP_001257398.1|NP_001257400.1|NP_003868.1	O14508	SOCS2_HUMAN			3	1063	+			155			SH2.|SOCS box.		A8K3D1|O14542|O95102|Q9UKS5	Silent	SNP	ENST00000340600.2	37	c.465G>A	CCDS9047.1																																																																																				0.502	SOCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407731.2			41	61	0	0	0	1	0	41	61				
ARVCF	421	broad.mit.edu	37	22	19969136	19969136	+	Missense_Mutation	SNP	C	C	T	rs375865872		TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr22:19969136C>T	ENST00000263207.3	-	5	785	c.494G>A	c.(493-495)cGg>cAg	p.R165Q	ARVCF_ENST00000344269.3_Missense_Mutation_p.R102Q|ARVCF_ENST00000487793.1_5'UTR|ARVCF_ENST00000406259.1_Missense_Mutation_p.R165Q|ARVCF_ENST00000406522.1_Missense_Mutation_p.R102Q|ARVCF_ENST00000401994.1_Missense_Mutation_p.R102Q	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	165					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					CAGGAAATGCCGGTCCAGGGC	0.682													C|||	1	0.000199681	0.0	0.0014	5008	,	,		15781	0.0		0.0	False		,,,				2504	0.0					ENST00000263207.3																			0				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13						c.(493-495)cGg>cAg		armadillo repeat gene deleted in velocardiofacial syndrome		C	GLN/ARG	0,4322		0,0,2161	26.0	32.0	30.0		494	3.4	1.0	22		30	1,8485		0,1,4242	no	missense	ARVCF	NM_001670.2	43	0,1,6403	TT,TC,CC		0.0118,0.0,0.0078	benign	165/963	19969136	1,12807	2161	4243	6404	SO:0001583	missense	421				cell adhesion|multicellular organismal development		protein binding	g.chr22:19969136C>T		CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"""Armadillo repeat containing"""	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.494G>A	22.37:g.19969136C>T	ENSP00000263207:p.Arg165Gln					ARVCF_ENST00000406259.1_Missense_Mutation_p.R165Q|ARVCF_ENST00000406522.1_Missense_Mutation_p.R102Q|ARVCF_ENST00000401994.1_Missense_Mutation_p.R102Q|ARVCF_ENST00000487793.1_5'UTR|ARVCF_ENST00000344269.3_Missense_Mutation_p.R102Q	p.R165Q	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN			5	785	-	Colorectal(54;0.0993)		165					B7WNV2	Missense_Mutation	SNP	ENST00000263207.3	37	c.494G>A	CCDS13771.1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.717960	0.68844	0.0	1.18E-4	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52	4.43	3.38	0.38709	.	0.408341	0.26851	N	0.022164	T	0.29945	0.0749	M	0.66939	2.045	0.51233	D	0.999918	B	0.13594	0.008	B	0.09377	0.004	T	0.08269	-1.0730	9	.	.	.	-6.6601	10.8594	0.46819	0.0:0.9008:0.0:0.0992	.	165	O00192	ARVC_HUMAN	Q	165;102;102;102;165	ENSP00000263207:R165Q;ENSP00000342042:R102Q;ENSP00000384341:R102Q;ENSP00000384732:R102Q;ENSP00000385444:R165Q	.	R	-	2	0	ARVCF	18349136	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.530000	0.67141	1.112000	0.41740	0.551000	0.68910	CGG		0.682	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	NM_001670		33	50	0	0	0	1	0	33	50				
FAM47C	442444	broad.mit.edu	37	X	37029109	37029109	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chrX:37029109C>A	ENST00000358047.3	+	1	2678	c.2626C>A	c.(2626-2628)Cct>Act	p.P876T		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	876										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TGACTTTACCCCTGAGTGCAG	0.463																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(2626-2628)Cct>Act		family with sequence similarity 47, member C							121.0	113.0	116.0					X																	37029109		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37029109C>A	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.2626C>A	X.37:g.37029109C>A	ENSP00000367913:p.Pro876Thr						p.P876T	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	2678	+			876					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.2626C>A	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	C	2.793	-0.250938	0.05867	.	.	ENSG00000198173	ENST00000358047	T	0.71222	-0.55	0.829	-1.66	0.08265	.	.	.	.	.	T	0.60157	0.2247	M	0.68317	2.08	0.09310	N	1	B	0.29432	0.244	B	0.29176	0.099	T	0.45556	-0.9253	8	0.23302	T	0.38	.	.	.	.	.	876	Q5HY64	FA47C_HUMAN	T	876	ENSP00000367913:P876T	ENSP00000367913:P876T	P	+	1	0	FAM47C	36939030	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.177000	0.09796	-0.937000	0.03719	0.277000	0.19347	CCT		0.463	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		46	12	1	0	5.20006e-24	1	6.15595e-24	46	12				
TBC1D3P2	440452	broad.mit.edu	37	17	60342197	60342197	+	RNA	SNP	T	T	C			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr17:60342197T>C	ENST00000581291.1	-	0	1956									TBC1 domain family, member 3 pseudogene 2											breast(2)|kidney(1)|lung(2)	5						TGGGAGGGGCTGGGCATGGTT	0.488																																						ENST00000581291.1																			0				breast(2)|kidney(1)|lung(2)	5																																														440452							g.chr17:60342197T>C			17q23.2	2009-05-14				ENSG00000188755			27783	pseudogene	pseudogene							Standard	NR_027486		Approved		uc002izq.2				17.37:g.60342197T>C														0	1956	-									RNA	SNP	ENST00000581291.1	37																																																																																						0.488	TBC1D3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445021.1	NR_027486		4	17	0	0	0	1	0	4	17				
PPP1R17	10842	broad.mit.edu	37	7	31736590	31736590	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr7:31736590G>C	ENST00000342032.3	+	4	875	c.247G>C	c.(247-249)Gaa>Caa	p.E83Q	PPP1R17_ENST00000409146.3_Missense_Mutation_p.E32Q|PPP1R17_ENST00000498609.1_3'UTR	NM_006658.4	NP_006649.2	O96001	PPR17_HUMAN	protein phosphatase 1, regulatory subunit 17	83					central nervous system development (GO:0007417)|intracellular signal transduction (GO:0035556)|regulation of phosphatase activity (GO:0010921)		protein serine/threonine phosphatase inhibitor activity (GO:0004865)										TGTGTTTTCAGAACATTTAAT	0.383																																						ENST00000342032.3																			0											c.(247-249)Gaa>Caa		protein phosphatase 1, regulatory subunit 17							89.0	87.0	88.0					7																	31736590		2203	4300	6503	SO:0001583	missense	10842				behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction		g.chr7:31736590G>C	AF071789	CCDS5436.1, CCDS47570.1	7p15	2012-04-17	2011-10-11	2011-10-11	ENSG00000106341	ENSG00000106341		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16973	protein-coding gene	gene with protein product	"""G-substrate"""	604088	"""chromosome 7 open reading frame 16"""	C7orf16		10051666, 9920894	Standard	NM_006658		Approved	GSBS	uc003tcl.3	O96001	OTTHUMG00000128629	ENST00000342032.3:c.247G>C	7.37:g.31736590G>C	ENSP00000340125:p.Glu83Gln					PPP1R17_ENST00000409146.3_Missense_Mutation_p.E32Q|PPP1R17_ENST00000498609.1_3'UTR	p.E83Q	NM_006658.4	NP_006649.2	O96001	GSUB_HUMAN			4	875	+			83					B4DE58|Q9UDQ0	Missense_Mutation	SNP	ENST00000342032.3	37	c.247G>C	CCDS5436.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.229657	0.79688	.	.	ENSG00000106341	ENST00000342032;ENST00000409146	T;T	0.40225	1.14;1.04	5.63	5.63	0.86233	.	0.069233	0.64402	D	0.000017	T	0.63510	0.2517	M	0.63843	1.955	0.52501	D	0.999954	D;D	0.76494	0.999;0.999	D;D	0.69479	0.964;0.964	T	0.62793	-0.6779	10	0.59425	D	0.04	-31.1335	19.642	0.95762	0.0:0.0:1.0:0.0	.	32;83	B4DE58;O96001	.;PPR17_HUMAN	Q	83;32	ENSP00000340125:E83Q;ENSP00000386459:E32Q	ENSP00000340125:E83Q	E	+	1	0	C7orf16	31703115	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	4.987000	0.63857	2.802000	0.96397	0.563000	0.77884	GAA		0.383	PPP1R17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250498.1	NM_006658		31	66	0	0	0	1	0	31	66				
LRRK2	120892	broad.mit.edu	37	12	40689364	40689364	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr12:40689364G>A	ENST00000298910.7	+	23	3072	c.3014G>A	c.(3013-3015)tGt>tAt	p.C1005Y	LRRK2_ENST00000343742.2_Missense_Mutation_p.C1005Y	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1005					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CAGAAATGCTGTATAAGTGTT	0.388																																						ENST00000298910.7																			0				NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.(3013-3015)tGt>tAt		leucine-rich repeat kinase 2							76.0	70.0	72.0					12																	40689364		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40689364G>A	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.3014G>A	12.37:g.40689364G>A	ENSP00000298910:p.Cys1005Tyr					LRRK2_ENST00000343742.2_Missense_Mutation_p.C1005Y	p.C1005Y	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			23	3072	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	1005					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.3014G>A	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	3.272	-0.148965	0.06585	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.57595	0.39;0.39	5.71	2.8	0.32819	.	0.646941	0.17091	N	0.187388	T	0.26882	0.0658	N	0.14661	0.345	0.09310	N	1	P;B	0.35155	0.487;0.148	B;B	0.34536	0.185;0.116	T	0.29518	-1.0009	10	0.02654	T	1	.	7.0087	0.24851	0.132:0.0:0.6204:0.2476	.	1005;1005	E9PC85;Q5S007	.;LRRK2_HUMAN	Y	1005	ENSP00000341930:C1005Y;ENSP00000298910:C1005Y	ENSP00000298910:C1005Y	C	+	2	0	LRRK2	38975631	0.988000	0.35896	0.000000	0.03702	0.809000	0.45718	3.067000	0.50010	0.301000	0.22738	0.591000	0.81541	TGT		0.388	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		38	57	0	0	0	1	0	38	57				
SLC24A1	9187	broad.mit.edu	37	15	65917572	65917572	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr15:65917572C>A	ENST00000261892.6	+	2	1441	c.1154C>A	c.(1153-1155)gCa>gAa	p.A385E	SLC24A1_ENST00000544319.2_Missense_Mutation_p.A385E|SLC24A1_ENST00000537259.1_Missense_Mutation_p.A385E|SLC24A1_ENST00000339868.6_Missense_Mutation_p.A385E|SLC24A1_ENST00000399033.4_Missense_Mutation_p.A385E|SLC24A1_ENST00000546330.1_Missense_Mutation_p.A385E	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	385					calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						ACGGTCAGGGCAAAGCTGACC	0.577																																						ENST00000261892.6																			0				breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1153-1155)gCa>gAa		solute carrier family 24 (sodium/potassium/calcium exchanger), member 1							57.0	60.0	59.0					15																	65917572		2117	4232	6349	SO:0001583	missense	9187				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity	g.chr15:65917572C>A	AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621		"""Solute carriers"""	10975	protein-coding gene	gene with protein product		603617				9856482	Standard	NM_004727		Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000261892.6:c.1154C>A	15.37:g.65917572C>A	ENSP00000261892:p.Ala385Glu					SLC24A1_ENST00000546330.1_Missense_Mutation_p.A385E|SLC24A1_ENST00000544319.2_Missense_Mutation_p.A385E|SLC24A1_ENST00000537259.1_Missense_Mutation_p.A385E|SLC24A1_ENST00000399033.4_Missense_Mutation_p.A385E|SLC24A1_ENST00000339868.6_Missense_Mutation_p.A385E	p.A385E	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN			2	1441	+			385					O43485|O75184|Q17RM9	Missense_Mutation	SNP	ENST00000261892.6	37	c.1154C>A	CCDS45284.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557715	0.65425	.	.	ENSG00000074621	ENST00000537259;ENST00000261892;ENST00000339868;ENST00000544319;ENST00000399033;ENST00000546330	T;T;T;T;T;T	0.65732	0.07;-0.13;-0.15;-0.16;-0.17;-0.15	5.64	-2.92	0.05615	.	0.948250	0.08850	N	0.884623	T	0.63058	0.2479	L	0.46157	1.445	0.09310	N	1	B;B;B;D;D	0.71674	0.023;0.013;0.013;0.998;0.997	B;B;B;D;P	0.66351	0.016;0.007;0.007;0.943;0.879	T	0.54503	-0.8284	10	0.72032	D	0.01	.	0.7473	0.00984	0.3342:0.2877:0.1096:0.2685	.	385;385;385;385;385	O60721-2;Q17RM9;O60721;F5H127;B4E1W0	.;.;NCKX1_HUMAN;.;.	E	385	ENSP00000439693:A385E;ENSP00000261892:A385E;ENSP00000341837:A385E;ENSP00000445163:A385E;ENSP00000381991:A385E;ENSP00000439190:A385E	ENSP00000261892:A385E	A	+	2	0	SLC24A1	63704625	0.002000	0.14202	0.037000	0.18230	0.055000	0.15305	-0.377000	0.07456	-0.188000	0.10499	0.561000	0.74099	GCA		0.577	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397304.1	NM_004727		35	61	1	0	1.62565e-12	1	1.81756e-12	35	61				
AIMP2	7965	broad.mit.edu	37	7	6049123	6049123	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr7:6049123C>G	ENST00000223029.3	+	1	248	c.129C>G	c.(127-129)caC>caG	p.H43Q	PMS2_ENST00000382321.4_5'Flank|PMS2_ENST00000469652.1_5'Flank|PMS2_ENST00000406569.3_5'Flank|PMS2_ENST00000265849.7_5'Flank|AIMP2_ENST00000400479.2_Intron|AIMP2_ENST00000395236.2_Missense_Mutation_p.H43Q	NM_006303.3	NP_006294.2	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 2	43					apoptotic process (GO:0006915)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|tRNA aminoacylation for protein translation (GO:0006418)|Type II pneumocyte differentiation (GO:0060510)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						GCGCTGGCCACGTGCAGGTAG	0.776																																						ENST00000223029.3																			0				large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						c.(127-129)caC>caG		aminoacyl tRNA synthetase complex-interacting multifunctional protein 2							14.0	16.0	15.0					7																	6049123		2178	4244	6422	SO:0001583	missense	7965				apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation	cytosol|nucleus	protein binding	g.chr7:6049123C>G	U24169	CCDS5344.1	7p22.1	2009-05-29			ENSG00000106305	ENSG00000106305			20609	protein-coding gene	gene with protein product		600859				8666379, 18695251	Standard	NM_006303		Approved	p38, PRO0992, JTV-1, JTV1	uc003spo.3	Q13155	OTTHUMG00000122077	ENST00000223029.3:c.129C>G	7.37:g.6049123C>G	ENSP00000223029:p.His43Gln					AIMP2_ENST00000400479.2_Intron|AIMP2_ENST00000395236.2_Missense_Mutation_p.H43Q	p.H43Q	NM_006303.3	NP_006294.2	Q13155	AIMP2_HUMAN			1	248	+			43					Q75MR1|Q96CZ5|Q9P1L2	Missense_Mutation	SNP	ENST00000223029.3	37	c.129C>G	CCDS5344.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.482548	0.84747	.	.	ENSG00000106305	ENST00000223029;ENST00000395236	T;T	0.31510	1.62;1.49	5.13	4.25	0.50352	.	0.121147	0.56097	D	0.000032	T	0.17831	0.0428	N	0.22421	0.69	0.22737	N	0.998796	B	0.32968	0.392	B	0.31614	0.133	T	0.16041	-1.0416	10	0.10636	T	0.68	-37.1297	11.0805	0.48057	0.0:0.9127:0.0:0.0873	.	43	Q13155	AIMP2_HUMAN	Q	43	ENSP00000223029:H43Q;ENSP00000378658:H43Q	ENSP00000223029:H43Q	H	+	3	2	AIMP2	6015649	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	0.978000	0.29488	1.383000	0.46405	-0.157000	0.13467	CAC		0.776	AIMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242834.2	NM_006303		16	31	0	0	0	1	0	16	31				
NOLC1	9221	broad.mit.edu	37	10	103912172	103912172	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr10:103912172C>T	ENST00000605788.1	+	1	240	c.5C>T	c.(4-6)gCg>gTg	p.A2V	NOLC1_ENST00000405356.1_Missense_Mutation_p.A2V|NOLC1_ENST00000488254.2_Missense_Mutation_p.A2V|NOLC1_ENST00000603742.1_5'UTR	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	2					cell cycle (GO:0007049)|mitotic nuclear division (GO:0007067)|nucleolus organization (GO:0007000)|rRNA processing (GO:0006364)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		TGGAGGATGGCGGACGCCGGC	0.632																																						ENST00000405356.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31						c.(4-6)gCg>gTg		nucleolar and coiled-body phosphoprotein 1							78.0	77.0	78.0					10																	103912172		2203	4300	6503	SO:0001583	missense	9221				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding	g.chr10:103912172C>T	Z34289	CCDS7530.1, CCDS65925.1, CCDS65926.1	10q24.32	2008-08-01			ENSG00000166197	ENSG00000166197			15608	protein-coding gene	gene with protein product		602394				7657714, 10567578	Standard	XM_005270273		Approved	P130, KIAA0035, NOPP140, NOPP130	uc001kuo.2	Q14978	OTTHUMG00000018944	ENST00000605788.1:c.5C>T	10.37:g.103912172C>T	ENSP00000474710:p.Ala2Val					NOLC1_ENST00000488254.2_Missense_Mutation_p.A2V|NOLC1_ENST00000605788.1_Missense_Mutation_p.A2V|NOLC1_ENST00000603742.1_5'UTR	p.A2V			Q14978	NOLC1_HUMAN		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)	1	240	+		Colorectal(252;0.122)	2					Q15030|Q5VV70|Q9BUV3	Missense_Mutation	SNP	ENST00000605788.1	37	c.5C>T	CCDS7530.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.856099	0.71834	.	.	ENSG00000166197	ENST00000405356;ENST00000370007	T	0.38887	1.11	5.4	5.4	0.78164	.	0.000000	0.64402	D	0.000002	T	0.65575	0.2704	M	0.76002	2.32	0.40419	D	0.979825	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.995	T	0.68938	-0.5277	10	0.87932	D	0	-8.6578	16.4747	0.84129	0.0:1.0:0.0:0.0	.	2;2;2	Q14978-3;Q14978-2;Q14978	.;.;NOLC1_HUMAN	V	2	ENSP00000385410:A2V	ENSP00000359024:A2V	A	+	2	0	NOLC1	103902162	1.000000	0.71417	1.000000	0.80357	0.421000	0.31385	5.500000	0.66943	2.813000	0.96785	0.561000	0.74099	GCG		0.632	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050012.2	NM_004741		30	22	0	0	0	1	0	30	22				
KIAA1683	80726	broad.mit.edu	37	19	18368530	18368530	+	Silent	SNP	G	G	A	rs575963036		TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr19:18368530G>A	ENST00000600328.3	-	4	3196	c.3003C>T	c.(3001-3003)ccC>ccT	p.P1001P	PDE4C_ENST00000596647.1_5'Flank|PDE4C_ENST00000355502.3_5'Flank|KIAA1683_ENST00000392413.4_Silent_p.P1188P|KIAA1683_ENST00000600359.3_Silent_p.P955P			Q9H0B3	K1683_HUMAN	KIAA1683	1001	IQ 4. {ECO:0000255|PROSITE- ProRule:PRU00116}.					mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CCCACGTGACGGGGTGGAGCA	0.667													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15486	0.0		0.0	False		,,,				2504	0.0					ENST00000392413.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(3562-3564)ccC>ccT		KIAA1683							23.0	29.0	27.0					19																	18368530		2160	4229	6389	SO:0001819	synonymous_variant	80726					mitochondrion		g.chr19:18368530G>A	AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.3003C>T	19.37:g.18368530G>A						KIAA1683_ENST00000600328.2_Silent_p.P1001P|KIAA1683_ENST00000600359.2_Silent_p.P955P	p.P1188P	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN			4	3779	-			0					B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Silent	SNP	ENST00000600328.3	37	c.3564C>T	CCDS32958.1																																																																																				0.667	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			34	57	0	0	0	1	0	34	57				
AMDHD2	51005	broad.mit.edu	37	16	2578082	2578082	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr16:2578082G>A	ENST00000293971.6	+	6	744	c.650G>A	c.(649-651)cGg>cAg	p.R217Q	AMDHD2_ENST00000302956.4_Missense_Mutation_p.R217Q|AMDHD2_ENST00000413459.3_Missense_Mutation_p.R217Q|CEMP1_ENST00000382350.1_Intron|AMDHD2_ENST00000565570.1_Intron	NM_015944.3	NP_057028.2	Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	217					carbohydrate metabolic process (GO:0005975)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylneuraminate catabolic process (GO:0019262)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-phosphate deacetylase activity (GO:0008448)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						GCTGACCTGCGGGCGGCAGAG	0.682																																						ENST00000302956.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						c.(649-651)cGg>cAg		amidohydrolase domain containing 2							58.0	65.0	63.0					16																	2578082		2197	4300	6497	SO:0001583	missense	51005				N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity	g.chr16:2578082G>A	AF132948	CCDS10471.1, CCDS53984.1	16p13.3	2008-02-05			ENSG00000162066	ENSG00000162066			24262	protein-coding gene	gene with protein product						10810093	Standard	NM_001145815		Approved	CGI-14	uc010uwc.2	Q9Y303	OTTHUMG00000128866	ENST00000293971.6:c.650G>A	16.37:g.2578082G>A	ENSP00000293971:p.Arg217Gln					AMDHD2_ENST00000293971.6_Missense_Mutation_p.R217Q|AMDHD2_ENST00000413459.3_Missense_Mutation_p.R217Q|CEMP1_ENST00000382350.1_Intron|AMDHD2_ENST00000565570.1_Intron	p.R217Q			Q9Y303	NAGA_HUMAN			6	744	+			217					B4DL77|Q8WV54	Missense_Mutation	SNP	ENST00000293971.6	37	c.650G>A		.	.	.	.	.	.	.	.	.	.	G	10.68	1.419494	0.25552	.	.	ENSG00000162066	ENST00000413459;ENST00000302956;ENST00000293971	D;D;T	0.99933	-8.25;-8.25;0.91	5.43	-4.53	0.03462	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.677292	0.15214	N	0.274319	D	0.98934	0.9638	N	0.03177	-0.4	0.25304	N	0.989256	B;B;B	0.18610	0.029;0.0;0.0	B;B;B	0.22753	0.041;0.001;0.005	D	0.99999	1.9798	10	0.32370	T	0.25	-19.7191	5.1222	0.14865	0.549:0.0933:0.2634:0.0943	.	217;217;217	Q9Y303-3;Q9Y303;Q9Y303-2	.;NAGA_HUMAN;.	Q	217	ENSP00000391596:R217Q;ENSP00000307481:R217Q;ENSP00000293971:R217Q	ENSP00000293971:R217Q	R	+	2	0	AMDHD2	2518083	0.020000	0.18652	0.012000	0.15200	0.990000	0.78478	0.780000	0.26760	-0.731000	0.04862	0.655000	0.94253	CGG		0.682	AMDHD2-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000435652.1	NM_015944		48	24	0	0	0	1	0	48	24				
MSR1	4481	broad.mit.edu	37	8	16026258	16026258	+	Silent	SNP	G	G	C			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr8:16026258G>C	ENST00000262101.5	-	4	460	c.339C>G	c.(337-339)gtC>gtG	p.V113V	MSR1_ENST00000381998.4_Silent_p.V113V|MSR1_ENST00000536385.1_Intron|MSR1_ENST00000445506.2_Silent_p.V131V|MSR1_ENST00000355282.2_Silent_p.V113V|MSR1_ENST00000350896.3_Silent_p.V113V			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	113			V -> A (found in patients with prostate cancer; dbSNP:rs117359034). {ECO:0000269|PubMed:12244320}.		cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)	p.V113V(1)		haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		GTTCCATAAAGACTTCTTGAA	0.388																																						ENST00000350896.3																			1	Substitution - coding silent(1)	p.V113V(1)	large_intestine(1)	haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(337-339)gtC>gtG		macrophage scavenger receptor 1							274.0	247.0	256.0					8																	16026258		2203	4300	6503	SO:0001819	synonymous_variant	4481				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	g.chr8:16026258G>C	D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"""CD molecules"""	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.339C>G	8.37:g.16026258G>C						MSR1_ENST00000445506.2_Silent_p.V131V|MSR1_ENST00000262101.5_Silent_p.V113V|MSR1_ENST00000381998.4_Silent_p.V113V|MSR1_ENST00000536385.1_Intron|MSR1_ENST00000355282.2_Silent_p.V113V	p.V113V	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN		Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)	4	536	-			113					D3DSP3|O60505|P21759|Q45F10	Silent	SNP	ENST00000262101.5	37	c.339C>G	CCDS5995.1																																																																																				0.388	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2			72	56	0	0	0	1	0	72	56				
FAM19A2	338811	broad.mit.edu	37	12	62261196	62261196	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr12:62261196C>A	ENST00000416284.3	-	2	1595	c.11G>T	c.(10-12)aGa>aTa	p.R4I	FAM19A2_ENST00000551449.1_Missense_Mutation_p.R4I|FAM19A2_ENST00000551619.1_Missense_Mutation_p.R4I	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	4						cytoplasm (GO:0005737)				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		CTGTAAGTATCTCTTACTCAT	0.313																																						ENST00000416284.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15						c.(10-12)aGa>aTa		family with sequence similarity 19 (chemokine (C-C motif)-like), member A2							86.0	88.0	87.0					12																	62261196		2203	4297	6500	SO:0001583	missense	338811					cytoplasm		g.chr12:62261196C>A	AY325115	CCDS8962.1	12q14.1	2012-10-03			ENSG00000198673	ENSG00000198673			21589	protein-coding gene	gene with protein product						15028294	Standard	NM_178539		Approved	TAFA-2	uc001sqw.3	Q8N3H0	OTTHUMG00000170207	ENST00000416284.3:c.11G>T	12.37:g.62261196C>A	ENSP00000393987:p.Arg4Ile					FAM19A2_ENST00000551449.1_Missense_Mutation_p.R4I|FAM19A2_ENST00000551619.1_Missense_Mutation_p.R4I	p.R4I	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)	2	1595	-			4					B3KVV4|Q4G0R9|Q68DK0|Q6GTX6	Missense_Mutation	SNP	ENST00000416284.3	37	c.11G>T	CCDS8962.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.707943	0.89018	.	.	ENSG00000198673	ENST00000416284;ENST00000551619;ENST00000551449;ENST00000552075;ENST00000549958;ENST00000548780	.	.	.	6.08	6.08	0.98989	.	0.071064	0.56097	D	0.000038	T	0.53286	0.1787	L	0.27053	0.805	0.50467	D	0.99987	P	0.42757	0.789	B	0.44278	0.445	T	0.42865	-0.9426	8	.	.	.	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	4	Q8N3H0	F19A2_HUMAN	I	4;4;4;5;11;5	.	.	R	-	2	0	FAM19A2	60547463	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.548000	0.67255	2.894000	0.99253	0.655000	0.94253	AGA		0.313	FAM19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407967.2	NM_178539		36	50	1	0	4.34311e-12	1	4.82234e-12	36	50				
HJURP	55355	broad.mit.edu	37	2	234749348	234749348	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr2:234749348C>T	ENST00000411486.2	-	8	2143	c.2078G>A	c.(2077-2079)cGc>cAc	p.R693H	HJURP_ENST00000432087.1_Missense_Mutation_p.R639H|HJURP_ENST00000441687.1_Missense_Mutation_p.R608H|HJURP_ENST00000434039.1_5'Flank	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	693					cell cycle (GO:0007049)|CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|nucleosome assembly (GO:0006334)|regulation of DNA binding (GO:0051101)|regulation of protein complex assembly (GO:0043254)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|identical protein binding (GO:0042802)			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		ATTGCCCTGGCGTCCGGAGCC	0.592																																						ENST00000411486.2																			0				NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(2077-2079)cGc>cAc		Holliday junction recognition protein							83.0	86.0	85.0					2																	234749348		2203	4300	6503	SO:0001583	missense	55355				cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding	g.chr2:234749348C>T		CCDS33406.1, CCDS63166.1, CCDS63167.1	2q37.1	2007-12-06			ENSG00000123485	ENSG00000123485			25444	protein-coding gene	gene with protein product		612667				17823411	Standard	NM_001282962		Approved	DKFZp762E1312, URLC9, hFLEG1, FAKTS	uc002vvg.3	Q8NCD3	OTTHUMG00000059125	ENST00000411486.2:c.2078G>A	2.37:g.234749348C>T	ENSP00000414109:p.Arg693His					HJURP_ENST00000441687.1_Missense_Mutation_p.R608H|HJURP_ENST00000432087.1_Missense_Mutation_p.R639H	p.R693H	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)	8	2143	-		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)	693					A8IRH5|B4DWR0|B4DZV4|Q9BUT2|Q9NSL8	Missense_Mutation	SNP	ENST00000411486.2	37	c.2078G>A	CCDS33406.1	.	.	.	.	.	.	.	.	.	.	c	2.951	-0.216811	0.06101	.	.	ENSG00000123485	ENST00000411486;ENST00000432087;ENST00000441687	T;T;T	0.08458	3.09;3.09;3.09	4.19	-8.37	0.00976	.	2.339420	0.01911	N	0.039862	T	0.03178	0.0093	N	0.04508	-0.205	0.09310	N	1	B;B;B	0.26935	0.164;0.164;0.102	B;B;B	0.16722	0.016;0.016;0.007	T	0.17837	-1.0356	10	0.21540	T	0.41	1.0402	5.9495	0.19237	0.1801:0.1135:0.0832:0.6231	.	608;639;693	Q8NCD3-3;Q8NCD3-2;Q8NCD3	.;.;HJURP_HUMAN	H	693;639;608	ENSP00000414109:R693H;ENSP00000407208:R639H;ENSP00000401944:R608H	ENSP00000414109:R693H	R	-	2	0	HJURP	234414087	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.798000	0.00363	-4.154000	0.00069	-1.944000	0.00493	CGC		0.592	HJURP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130996.6	NM_018410		62	24	0	0	0	1	0	62	24				
ATP2B2	491	broad.mit.edu	37	3	10387081	10387081	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr3:10387081G>T	ENST00000352432.4	-	17	2759	c.2690C>A	c.(2689-2691)gCc>gAc	p.A897D	ATP2B2_ENST00000360273.2_Missense_Mutation_p.A897D|ATP2B2_ENST00000397077.1_Missense_Mutation_p.A852D|ATP2B2_ENST00000383800.4_Missense_Mutation_p.A852D|ATP2B2_ENST00000343816.4_Missense_Mutation_p.A883D			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	897					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CGTGATGCAGGCGCCTGTGAA	0.622																																					Ovarian(125;1619 1709 15675 19819 38835)	ENST00000397077.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.(2554-2556)gCc>gAc		ATPase, Ca++ transporting, plasma membrane 2							114.0	90.0	98.0					3																	10387081		2203	4300	6503	SO:0001583	missense	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10387081G>T	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.2690C>A	3.37:g.10387081G>T	ENSP00000324172:p.Ala897Asp					ATP2B2_ENST00000383800.4_Missense_Mutation_p.A852D|ATP2B2_ENST00000360273.2_Missense_Mutation_p.A897D|ATP2B2_ENST00000352432.4_Missense_Mutation_p.A897D|ATP2B2_ENST00000343816.4_Missense_Mutation_p.A883D	p.A852D			Q01814	AT2B2_HUMAN			17	3130	-			897					O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	c.2555C>A	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.970606	0.74246	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000429937;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.89810	-2.57;-2.57;-2.57;-2.57;-2.57;-2.57	4.15	4.15	0.48705	ATPase, P-type,  transmembrane domain (1);	0.052966	0.85682	D	0.000000	D	0.95850	0.8649	M	0.93283	3.4	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.996;0.994;0.997	D	0.97301	0.9931	10	0.87932	D	0	-31.0398	16.8194	0.85742	0.0:0.0:1.0:0.0	.	832;864;897	F5H7F7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	D	897;852;852;897;883;832;86;753;897	ENSP00000324172:A897D;ENSP00000373311:A852D;ENSP00000380267:A852D;ENSP00000353414:A897D;ENSP00000344677:A883D;ENSP00000414854:A753D	ENSP00000342954:A897D	A	-	2	0	ATP2B2	10362081	1.000000	0.71417	0.958000	0.39756	0.324000	0.28378	9.772000	0.98984	2.038000	0.60285	0.555000	0.69702	GCC		0.622	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		20	12	1	0	1.33834e-09	1	1.47584e-09	20	12				
CLVS2	134829	broad.mit.edu	37	6	123319157	123319157	+	Silent	SNP	C	C	A			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr6:123319157C>A	ENST00000275162.5	+	2	1570	c.235C>A	c.(235-237)Cgg>Agg	p.R79R	CLVS2_ENST00000368438.1_Intron	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	79					lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						CTTTGAGTACCGGCAGCAGAA	0.557																																						ENST00000275162.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						c.(235-237)Cgg>Agg		clavesin 2							130.0	117.0	121.0					6																	123319157		2203	4300	6503	SO:0001819	synonymous_variant	134829				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr6:123319157C>A	AK095527	CCDS34525.1	6q22.31	2009-10-14	2009-10-14	2009-10-14	ENSG00000146352	ENSG00000146352			23046	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 212"", ""chromosome 6 open reading frame 213"", ""retinaldehyde binding protein 1-like 2"""	C6orf212, C6orf213, RLBP1L2		19651769	Standard	NM_001010852		Approved	bA160A10.4	uc003pzi.1	Q5SYC1	OTTHUMG00000015495	ENST00000275162.5:c.235C>A	6.37:g.123319157C>A						CLVS2_ENST00000368438.1_Intron	p.R79R	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN			2	1570	+			79					B3KTG5|B4DHL0|C8UZT4|Q5SYC0	Silent	SNP	ENST00000275162.5	37	c.235C>A	CCDS34525.1																																																																																				0.557	CLVS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042042.2	NM_001010852		58	92	1	0	4.96213e-28	1	5.9178e-28	58	92				
OR8J3	81168	broad.mit.edu	37	11	55904585	55904585	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr11:55904585C>G	ENST00000301529.1	-	1	609	c.610G>C	c.(610-612)Gca>Cca	p.A204P		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	204						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					AAATTTGTTGCTGCAGATATA	0.313																																						ENST00000301529.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59						c.(610-612)Gca>Cca		olfactory receptor, family 8, subfamily J, member 3							103.0	107.0	106.0					11																	55904585		2201	4296	6497	SO:0001583	missense	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55904585C>G		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.610G>C	11.37:g.55904585C>G	ENSP00000301529:p.Ala204Pro						p.A204P	NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN			1	609	-	Esophageal squamous(21;0.00693)		204					Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	c.610G>C	CCDS31520.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.442475	0.25987	.	.	ENSG00000167822	ENST00000301529	T	0.38560	1.13	3.27	-0.205	0.13196	GPCR, rhodopsin-like superfamily (1);	0.524842	0.18555	N	0.137802	T	0.44912	0.1316	M	0.69358	2.11	0.09310	N	1	P	0.38440	0.631	P	0.50754	0.649	T	0.43829	-0.9367	10	0.87932	D	0	.	0.5925	0.00730	0.3086:0.2133:0.2949:0.1833	.	204	Q8NGG0	OR8J3_HUMAN	P	204	ENSP00000301529:A204P	ENSP00000301529:A204P	A	-	1	0	OR8J3	55661161	0.000000	0.05858	0.006000	0.13384	0.263000	0.26337	-2.253000	0.01184	0.474000	0.27392	0.297000	0.19635	GCA		0.313	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		40	73	0	0	0	1	0	40	73				
NDST4	64579	broad.mit.edu	37	4	115858651	115858651	+	Silent	SNP	T	T	A			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr4:115858651T>A	ENST00000264363.2	-	5	1908	c.1230A>T	c.(1228-1230)ggA>ggT	p.G410G		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	410	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TGATTGGTATTCCATGTTCCT	0.433																																						ENST00000264363.2																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(1228-1230)ggA>ggT		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4							99.0	83.0	88.0					4																	115858651		2203	4300	6503	SO:0001819	synonymous_variant	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115858651T>A	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1230A>T	4.37:g.115858651T>A							p.G410G	NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	5	1908	-		Ovarian(17;0.156)	410			Heparan sulfate N-deacetylase 4.		Q2KHM8	Silent	SNP	ENST00000264363.2	37	c.1230A>T	CCDS3706.1																																																																																				0.433	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		21	11	0	0	0	1	0	21	11				
FANCA	2175	broad.mit.edu	37	16	89807210	89807210	+	Splice_Site	SNP	A	A	T			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr16:89807210A>T	ENST00000389301.3	-	38	3859		c.e38+1		FANCA_ENST00000568369.1_Splice_Site|ZNF276_ENST00000289816.5_3'UTR	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A						DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GGTCTGACTTACATTTGAGGT	0.483			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000389301.3			yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"""D, Mis, N, F, S"""	"""Fanconi anemia, complementation group A"""			L		"""AML, leukemia"""			0				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47						c.e38+1	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group A							75.0	67.0	70.0					16																	89807210		2198	4300	6498	SO:0001630	splice_region_variant	2175	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	g.chr16:89807210A>T	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.3828+1T>A	16.37:g.89807210A>T						ZNF276_ENST00000289816.5_3'UTR|FANCA_ENST00000568369.1_Splice_Site		NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.028)	38	3859	-		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)						A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Splice_Site	SNP	ENST00000389301.3	37		CCDS32515.1	.	.	.	.	.	.	.	.	.	.	A	7.291	0.611128	0.14066	.	.	ENSG00000187741	ENST00000389301;ENST00000305699	.	.	.	5.21	4.1	0.47936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.5588	0.45133	0.8381:0.1619:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FANCA	88334711	0.265000	0.24102	0.065000	0.19835	0.037000	0.13140	1.791000	0.38744	0.902000	0.36520	0.459000	0.35465	.		0.483	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1		Intron	11	17	0	0	0	1	0	11	17				
IGHG2	3501	broad.mit.edu	37	14	106109985	106109985	+	RNA	SNP	G	G	C			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr14:106109985G>C	ENST00000390545.2	-	0	632							P01859	IGHG2_HUMAN	immunoglobulin heavy constant gamma 2 (G2m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										TGGTTTTCTCGATGGGGGCTG	0.627																																						ENST00000390545.2																			0																				184.0	183.0	183.0					14																	106109985		2023	4181	6204			3501							g.chr14:106109985G>C	J00230		14q32.33	2012-10-02			ENSG00000211893	ENSG00000211893		"""Immunoglobulins / IGH locus"""	5526	other	immunoglobulin gene		147110					Standard	NG_001019		Approved			P01859	OTTHUMG00000152482		14.37:g.106109985G>C														0	632	-								A6NE66	RNA	SNP	ENST00000390545.2	37																																																																																						0.627	IGHG2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326391.1	NG_001019		4	31	0	0	0	1	0	4	31				
IBSP	3381	broad.mit.edu	37	4	88723830	88723830	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr4:88723830T>C	ENST00000226284.5	+	4	197	c.130T>C	c.(130-132)Tat>Cat	p.Y44H		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	44					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		GCCACGATATTATCTTTACAA	0.274																																						ENST00000226284.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21						c.(130-132)Tat>Cat		integrin-binding sialoprotein							52.0	53.0	53.0					4																	88723830		2202	4283	6485	SO:0001583	missense	3381				biomineral tissue development|cell adhesion|ossification			g.chr4:88723830T>C		CCDS3624.1	4q21.1	2008-07-28	2008-07-28		ENSG00000029559	ENSG00000029559			5341	protein-coding gene	gene with protein product	"""bone sialoprotein"", ""bone sialoprotein II"""	147563				8406493	Standard	NM_004967		Approved	BSP, SP-II, BSP-II	uc003hqx.4	P21815	OTTHUMG00000130600	ENST00000226284.5:c.130T>C	4.37:g.88723830T>C	ENSP00000226284:p.Tyr44His						p.Y44H	NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)	4	197	+		Hepatocellular(203;0.114)	44						Missense_Mutation	SNP	ENST00000226284.5	37	c.130T>C	CCDS3624.1	.	.	.	.	.	.	.	.	.	.	T	19.72	3.879327	0.72294	.	.	ENSG00000029559	ENST00000226284	T	0.18502	2.21	5.28	5.28	0.74379	.	0.333779	0.25932	N	0.027369	T	0.35335	0.0928	M	0.65498	2.005	0.29157	N	0.878026	D	0.59767	0.986	P	0.60541	0.876	T	0.26950	-1.0088	10	0.87932	D	0	.	11.8889	0.52618	0.0:0.0:0.0:1.0	.	44	P21815	SIAL_HUMAN	H	44	ENSP00000226284:Y44H	ENSP00000226284:Y44H	Y	+	1	0	IBSP	88942854	0.998000	0.40836	0.436000	0.26797	0.987000	0.75469	4.474000	0.60203	2.126000	0.65437	0.383000	0.25322	TAT		0.274	IBSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253050.2			35	21	0	0	0	1	0	35	21				
SLITRK1	114798	broad.mit.edu	37	13	84455101	84455101	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr13:84455101T>C	ENST00000377084.2	-	1	1427	c.542A>G	c.(541-543)cAc>cGc	p.H181R		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	181					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GAGGTCGAGGTGGGTGATGGG	0.537																																						ENST00000377084.2																			0				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80						c.(541-543)cAc>cGc		SLIT and NTRK-like family, member 1							92.0	91.0	92.0					13																	84455101		2203	4300	6503	SO:0001583	missense	114798					integral to membrane		g.chr13:84455101T>C	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.542A>G	13.37:g.84455101T>C	ENSP00000366288:p.His181Arg						p.H181R	NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	1427	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	181					Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	c.542A>G	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	T	12.01	1.810335	0.32053	.	.	ENSG00000178235	ENST00000377084	T	0.58358	0.34	4.45	4.45	0.53987	.	0.000000	0.85682	D	0.000000	T	0.54663	0.1872	N	0.17674	0.51	0.58432	D	0.999999	D	0.54772	0.968	D	0.69479	0.964	T	0.52675	-0.8544	10	0.30854	T	0.27	-13.3176	12.6952	0.56999	0.0:0.0:0.0:1.0	.	181	Q96PX8	SLIK1_HUMAN	R	181	ENSP00000366288:H181R	ENSP00000366288:H181R	H	-	2	0	SLITRK1	83353102	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.868000	0.87116	1.874000	0.54306	0.459000	0.35465	CAC		0.537	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		67	30	0	0	0	1	0	67	30				
OGDH	4967	broad.mit.edu	37	7	44737219	44737219	+	Silent	SNP	C	C	T			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr7:44737219C>T	ENST00000222673.5	+	17	2238	c.2196C>T	c.(2194-2196)ttC>ttT	p.F732F	OGDH_ENST00000447398.1_Silent_p.F743F|OGDH_ENST00000543843.1_Silent_p.F683F|OGDH_ENST00000439616.2_Silent_p.F582F|OGDH_ENST00000444676.1_Silent_p.F747F|OGDH_ENST00000449767.1_Silent_p.F728F	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	732				LGFA -> AGLR (in Ref. 1; BAA01393 and 2; BAA06836). {ECO:0000305}.	2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	AGCTGGGCTTCGCCATGGCCA	0.597																																						ENST00000222673.5																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36						c.(2194-2196)ttC>ttT		oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	NADH(DB00157)						125.0	123.0	124.0					7																	44737219		2203	4300	6503	SO:0001819	synonymous_variant	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44737219C>T	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.2196C>T	7.37:g.44737219C>T						OGDH_ENST00000543843.1_Silent_p.F683F|OGDH_ENST00000439616.2_Silent_p.F582F|OGDH_ENST00000447398.1_Silent_p.F743F|OGDH_ENST00000449767.1_Silent_p.F728F|OGDH_ENST00000444676.1_Silent_p.F747F	p.F732F	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN			17	2238	+			732	LGFA -> AGLR (in Ref. 1; BAA01393 and 2; BAA06836).				B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Silent	SNP	ENST00000222673.5	37	c.2196C>T	CCDS34627.1																																																																																				0.597	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			52	84	0	0	0	1	0	52	84				
SLC38A10	124565	broad.mit.edu	37	17	79226361	79226361	+	Missense_Mutation	SNP	C	C	T	rs201582210		TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr17:79226361C>T	ENST00000374759.3	-	13	1962	c.1579G>A	c.(1579-1581)Gcg>Acg	p.A527T	SLC38A10_ENST00000288439.5_Missense_Mutation_p.A527T	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	527					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TTTCCGCCCGCGTGTCTGGAT	0.622													c|||	1	0.000199681	0.0008	0.0	5008	,	,		17474	0.0		0.0	False		,,,				2504	0.0					ENST00000374759.3																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1579-1581)Gcg>Acg		solute carrier family 38, member 10							67.0	60.0	62.0					17																	79226361		2203	4300	6503	SO:0001583	missense	124565				amino acid transport|sodium ion transport	integral to membrane		g.chr17:79226361C>T	BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"""Solute carriers"""	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.1579G>A	17.37:g.79226361C>T	ENSP00000363891:p.Ala527Thr					SLC38A10_ENST00000288439.5_Missense_Mutation_p.A527T	p.A527T	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		13	1962	-	all_neural(118;0.0804)|Melanoma(429;0.242)		527					Q6ZRC5|Q8NA99|Q96C66	Missense_Mutation	SNP	ENST00000374759.3	37	c.1579G>A	CCDS42397.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	7.007	0.555938	0.13436	.	.	ENSG00000157637	ENST00000374759;ENST00000288439	T;T	0.09911	3.16;2.93	3.66	-7.32	0.01436	.	40.614800	0.00166	N	0.000000	T	0.03220	0.0094	N	0.01352	-0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.38628	-0.9652	10	0.15952	T	0.53	-1.2705	8.1458	0.31110	0.0:0.4909:0.3383:0.1708	.	527;527	Q9HBR0-2;Q9HBR0	.;S38AA_HUMAN	T	527	ENSP00000363891:A527T;ENSP00000288439:A527T	ENSP00000288439:A527T	A	-	1	0	SLC38A10	76840956	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.897000	0.04110	-1.266000	0.02446	-0.711000	0.03637	GCG		0.622	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570		47	88	0	0	0	1	0	47	88				
DIP2A	23181	broad.mit.edu	37	21	47969742	47969742	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr21:47969742C>T	ENST00000417564.2	+	22	2602	c.2581C>T	c.(2581-2583)Cag>Tag	p.Q861*	DIP2A_ENST00000427143.2_Nonsense_Mutation_p.Q797*|DIP2A_ENST00000400274.1_Nonsense_Mutation_p.Q857*|DIP2A_ENST00000457905.3_Nonsense_Mutation_p.Q861*|DIP2A_ENST00000318711.7_Nonsense_Mutation_p.Q862*			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	861					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GGTGGCTGAGCAGCGGCCGGA	0.637																																						ENST00000318711.7																			0				cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2584-2586)Cag>Tag		DIP2 disco-interacting protein 2 homolog A (Drosophila)							85.0	92.0	90.0					21																	47969742		2202	4300	6502	SO:0001587	stop_gained	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47969742C>T	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.2581C>T	21.37:g.47969742C>T	ENSP00000392066:p.Gln861*					DIP2A_ENST00000457905.3_Nonsense_Mutation_p.Q861*|DIP2A_ENST00000427143.2_Nonsense_Mutation_p.Q797*|DIP2A_ENST00000417564.2_Nonsense_Mutation_p.Q861*|DIP2A_ENST00000400274.1_Nonsense_Mutation_p.Q857*	p.Q862*	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	22	2767	+	Breast(49;0.0933)		861					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Nonsense_Mutation	SNP	ENST00000417564.2	37	c.2584C>T	CCDS46655.1	.	.	.	.	.	.	.	.	.	.	C	40	8.086737	0.98646	.	.	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000457905;ENST00000417564	.	.	.	4.76	4.76	0.60689	.	0.156393	0.45361	D	0.000364	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-19.7088	17.1417	0.86755	0.0:1.0:0.0:0.0	.	.	.	.	X	857;797;862;861;861	.	ENSP00000323633:Q862X	Q	+	1	0	DIP2A	46794170	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	7.651000	0.83577	2.351000	0.79841	0.650000	0.86243	CAG		0.637	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		52	29	0	0	0	1	0	52	29				
SPIRE1	56907	broad.mit.edu	37	18	12493138	12493138	+	Silent	SNP	T	T	C			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr18:12493138T>C	ENST00000409402.4	-	8	1389	c.1122A>G	c.(1120-1122)ttA>ttG	p.L374L	SPIRE1_ENST00000453447.2_Silent_p.L254L|SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000309836.5_Silent_p.L177L|SPIRE1_ENST00000383356.2_Silent_p.L215L|SPIRE1_ENST00000410092.3_Silent_p.L374L	NM_001128626.1	NP_001122098.1			spire-type actin nucleation factor 1											breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						TAATTTCTTCTAATATTCTTT	0.438																																						ENST00000409402.4																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						c.(1120-1122)ttA>ttG		spire-type actin nucleation factor 1							102.0	95.0	98.0					18																	12493138		2203	4300	6503	SO:0001819	synonymous_variant	56907					cytoskeleton|perinuclear region of cytoplasm	actin binding	g.chr18:12493138T>C	AL833817	CCDS32790.2, CCDS45829.1, CCDS45830.1	18p11.21	2013-08-27	2013-08-27		ENSG00000134278	ENSG00000134278			30622	protein-coding gene	gene with protein product		609216	"""spire homolog 1 (Drosophila)"", ""spire family actin nucleation factor 1"""			10574461, 11747823	Standard	NM_001128626		Approved	spir-1, KIAA1135	uc002kre.3	Q08AE8	OTTHUMG00000153940	ENST00000409402.4:c.1122A>G	18.37:g.12493138T>C						SPIRE1_ENST00000410092.3_Silent_p.L374L|SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000453447.2_Silent_p.L254L|SPIRE1_ENST00000383356.2_Silent_p.L215L|SPIRE1_ENST00000309836.5_Silent_p.L177L	p.L374L	NM_001128626.1	NP_001122098.1	Q08AE8	SPIR1_HUMAN			8	1389	-			374			WH2 2.			Silent	SNP	ENST00000409402.4	37	c.1122A>G	CCDS45829.1																																																																																				0.438	SPIRE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333109.2	XM_290818		30	46	0	0	0	1	0	30	46				
TGIF2LX	90316	broad.mit.edu	37	X	89177196	89177196	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chrX:89177196G>A	ENST00000561129.2	+	1	242	c.112G>A	c.(112-114)Gca>Aca	p.A38T	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.A38T			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	38					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						GAGAAATAACGCAGATACAGG	0.552																																						ENST00000561129.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						c.(112-114)Gca>Aca		TGFB-induced factor homeobox 2-like, X-linked							23.0	26.0	25.0					X																	89177196		2201	4272	6473	SO:0001583	missense	90316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:89177196G>A	AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"""Homeoboxes / TALE class"""	18570	protein-coding gene	gene with protein product		300411	"""TGFB-induced factor 2-like, X-linked"""				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.112G>A	X.37:g.89177196G>A	ENSP00000453704:p.Ala38Thr					TGIF2LX_ENST00000283891.5_Missense_Mutation_p.A38T	p.A38T			Q8IUE1	TF2LX_HUMAN			1	242	+			38					Q5JRM9|Q8TD48	Missense_Mutation	SNP	ENST00000561129.2	37	c.112G>A	CCDS14459.1	.	.	.	.	.	.	.	.	.	.	G	3.317	-0.139527	0.06669	.	.	ENSG00000153779	ENST00000283891	T	0.64438	-0.1	1.76	0.612	0.17591	.	.	.	.	.	T	0.43809	0.1264	L	0.39020	1.185	0.09310	N	1	B	0.26258	0.145	B	0.14578	0.011	T	0.20140	-1.0284	8	.	.	.	-0.0188	4.3396	0.11103	0.4475:0.0:0.5525:0.0	.	38	Q8IUE1	TF2LX_HUMAN	T	38	ENSP00000355119:A38T	.	A	+	1	0	TGIF2LX	89063852	0.003000	0.15002	0.001000	0.08648	0.005000	0.04900	0.005000	0.13129	0.103000	0.17682	0.513000	0.50165	GCA		0.552	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417911.2	NM_138960		35	7	0	0	0	1	0	35	7				
MRPS18B	28973	broad.mit.edu	37	6	30585647	30585647	+	Missense_Mutation	SNP	C	C	T	rs375661910		TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr6:30585647C>T	ENST00000259873.4	+	1	162	c.5C>T	c.(4-6)gCg>gTg	p.A2V	MRPS18B_ENST00000506373.2_Missense_Mutation_p.A2V|AL662800.1_ENST00000410962.1_RNA|MRPS18B_ENST00000472229.1_3'UTR|PPP1R10_ENST00000376511.2_5'Flank|PPP1R10_ENST00000484449.1_5'Flank	NM_014046.3	NP_054765.1	Q9Y676	RT18B_HUMAN	mitochondrial ribosomal protein S18B	2					translation (GO:0006412)	cell junction (GO:0030054)|mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(2)	13						GTCAAGATGGCGGCGTCTGTA	0.537																																						ENST00000259873.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(2)	13						c.(4-6)gCg>gTg		mitochondrial ribosomal protein S18B		C	VAL/ALA	0,4406		0,0,2203	176.0	150.0	159.0		5	5.3	1.0	6		159	1,8599	1.2+/-3.3	0,1,4299	no	missense	MRPS18B	NM_014046.3	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	2/259	30585647	1,13005	2203	4300	6503	SO:0001583	missense	28973				translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr6:30585647C>T	AF100761	CCDS4682.1	6p21	2012-09-13			ENSG00000204568	ENSG00000204568		"""Mitochondrial ribosomal proteins / small subunits"""	14516	protein-coding gene	gene with protein product		611982				11279123	Standard	NM_014046		Approved	MRPS18-2, PTD017, C6orf14, HSPC183	uc003nqo.2	Q9Y676	OTTHUMG00000031268	ENST00000259873.4:c.5C>T	6.37:g.30585647C>T	ENSP00000259873:p.Ala2Val					MRPS18B_ENST00000472229.1_3'UTR|MRPS18B_ENST00000506373.2_Missense_Mutation_p.A2V	p.A2V	NM_014046.3	NP_054765.1	Q9Y676	RT18B_HUMAN			1	162	+			2					A6NDQ0|Q659G4|Q9BS27	Missense_Mutation	SNP	ENST00000259873.4	37	c.5C>T	CCDS4682.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.043625	0.75732	0.0	1.16E-4	ENSG00000204568	ENST00000259873;ENST00000506373;ENST00000376508	T	0.55234	0.53	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.66396	0.2785	M	0.75264	2.295	0.35659	D	0.812381	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.994	T	0.71237	-0.4652	10	0.87932	D	0	.	14.4323	0.67259	0.0:1.0:0.0:0.0	.	2;2;2	B4DFG6;Q5STN0;Q9Y676	.;.;RT18B_HUMAN	V	2	ENSP00000259873:A2V	ENSP00000259873:A2V	A	+	2	0	MRPS18B	30693626	0.999000	0.42202	0.996000	0.52242	0.261000	0.26267	3.347000	0.52200	2.780000	0.95670	0.655000	0.94253	GCG		0.537	MRPS18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076584.2			30	39	0	0	0	1	0	30	39				
PCDHA4	56144	broad.mit.edu	37	5	140188074	140188074	+	Silent	SNP	G	G	A			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr5:140188074G>A	ENST00000530339.1	+	1	1302	c.1302G>A	c.(1300-1302)tcG>tcA	p.S434S	PCDHA4_ENST00000512229.2_Silent_p.S434S|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000356878.4_Silent_p.S434S|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	434	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(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCGCCTTCGCTGTGGGCCA	0.612																																						ENST00000530339.1																			0				breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78						c.(1300-1302)tcG>tcA									96.0	98.0	97.0					5																	140188074		2203	4300	6503	SO:0001819	synonymous_variant	56144							g.chr5:140188074G>A	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1302G>A	5.37:g.140188074G>A						PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000356878.4_Silent_p.S434S|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.S434S|PCDHA1_ENST00000394633.3_Intron	p.S434S	NM_018907.2	NP_061730.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1302	+								O75285|Q2M253	Silent	SNP	ENST00000530339.1	37	c.1302G>A	CCDS54916.1																																																																																				0.612	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		76	53	0	0	0	1	0	76	53				
SLITRK6	84189	broad.mit.edu	37	13	86369375	86369375	+	Silent	SNP	C	C	A			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr13:86369375C>A	ENST00000400286.2	-	2	1867	c.1269G>T	c.(1267-1269)ctG>ctT	p.L423L		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	423					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TTAATTTGGTCAGGTGGTTAC	0.348																																						ENST00000400286.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1267-1269)ctG>ctT		SLIT and NTRK-like family, member 6							82.0	79.0	80.0					13																	86369375		1854	4094	5948	SO:0001819	synonymous_variant	84189					integral to membrane		g.chr13:86369375C>A	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.1269G>T	13.37:g.86369375C>A							p.L423L	NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN		GBM - Glioblastoma multiforme(99;0.0456)	2	1867	-	all_neural(89;0.117)|Medulloblastoma(90;0.163)		423					A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Silent	SNP	ENST00000400286.2	37	c.1269G>T	CCDS41903.1																																																																																				0.348	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		10	108	1	0	1.76689e-08	1	1.90919e-08	10	108				
EXOC6B	23233	broad.mit.edu	37	2	72725629	72725629	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr2:72725629C>T	ENST00000272427.6	-	13	1421	c.1291G>A	c.(1291-1293)Gac>Aac	p.D431N	EXOC6B_ENST00000410104.1_Missense_Mutation_p.D431N	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	431					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						CTATATTGGTCTCTGATTTCT	0.353																																						ENST00000272427.6																			0				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						c.(1291-1293)Gac>Aac		exocyst complex component 6B							101.0	91.0	94.0					2																	72725629		1831	4095	5926	SO:0001583	missense	23233				protein transport|vesicle docking involved in exocytosis	exocyst		g.chr2:72725629C>T	AB023136	CCDS46333.1	2p13.2	2013-01-22	2006-11-07	2006-11-07	ENSG00000144036	ENSG00000144036			17085	protein-coding gene	gene with protein product		607880	"""SEC15-like 2 (S. cerevisiae)"", ""SEC15 homolog B (S. cerevisiae)"""	SEC15L2, SEC15B		10231032, 11406615	Standard	NM_015189		Approved	KIAA0919	uc010fep.3	Q9Y2D4	OTTHUMG00000152723	ENST00000272427.6:c.1291G>A	2.37:g.72725629C>T	ENSP00000272427:p.Asp431Asn					EXOC6B_ENST00000410104.1_Missense_Mutation_p.D431N	p.D431N	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN			13	1421	-			431					B8ZZY3	Missense_Mutation	SNP	ENST00000272427.6	37	c.1291G>A	CCDS46333.1	.	.	.	.	.	.	.	.	.	.	C	35	5.459573	0.96240	.	.	ENSG00000144036	ENST00000272427;ENST00000410104;ENST00000290144	T;T	0.66099	-0.19;-0.19	5.13	5.13	0.70059	.	0.051404	0.85682	D	0.000000	T	0.74635	0.3742	M	0.79475	2.455	0.80722	D	1	P;P	0.51057	0.941;0.89	P;P	0.54346	0.453;0.749	T	0.77566	-0.2540	10	0.59425	D	0.04	.	16.1342	0.81471	0.0:1.0:0.0:0.0	.	431;431	Q9Y2D4;Q9Y2D4-2	EXC6B_HUMAN;.	N	431	ENSP00000272427:D431N;ENSP00000386698:D431N	ENSP00000272427:D431N	D	-	1	0	EXOC6B	72579137	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.434000	0.80377	2.693000	0.91896	0.650000	0.86243	GAC		0.353	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327558.1	XM_039570		12	16	0	0	0	1	0	12	16				
TTN	7273	broad.mit.edu	37	2	179612366	179612366	+	Intron	SNP	T	T	C			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr2:179612366T>C	ENST00000591111.1	-	45	10585				TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.K4921E			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGGTGTCTTTAGTTTCAGGA	0.433																																						ENST00000360870.5																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(14761-14763)Aaa>Gaa		titin							98.0	97.0	97.0					2																	179612366		2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179612366T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+5484A>G	2.37:g.179612366T>C						TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron	p.K4921E	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	14983	-			1048			Ig-like 29.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.14761A>G		.	.	.	.	.	.	.	.	.	.	T	17.02	3.281898	0.59758	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.59502	0.26	5.48	1.56	0.23342	.	.	.	.	.	T	0.41511	0.1162	L	0.36672	1.1	0.09310	N	0.999997	B	0.29988	0.264	B	0.28011	0.085	T	0.21690	-1.0238	9	0.26408	T	0.33	.	5.732	0.18045	0.0:0.1413:0.256:0.6026	.	4921	Q8WZ42-6	.	E	4921;235	ENSP00000354117:K4921E	ENSP00000304714:K235E	K	-	1	0	TTN	179320611	0.013000	0.17824	0.048000	0.18961	0.296000	0.27459	0.963000	0.29293	0.462000	0.27095	0.528000	0.53228	AAA		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		52	124	0	0	0	1	0	52	124				
TCEAL2	140597	broad.mit.edu	37	X	101381889	101381889	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chrX:101381889G>T	ENST00000372780.1	+	3	306	c.87G>T	c.(85-87)aaG>aaT	p.K29N	TCEAL2_ENST00000329035.2_Missense_Mutation_p.K29N	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	29					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						ACGAGGGAAAGCCAGAAGTAG	0.423																																						ENST00000372780.1																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						c.(85-87)aaG>aaT		transcription elongation factor A (SII)-like 2							111.0	103.0	106.0					X																	101381889		2203	4300	6503	SO:0001583	missense	140597				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:101381889G>T	AF325115	CCDS14496.1	Xq22.1-q22.3	2014-03-21			ENSG00000184905	ENSG00000184905			29818	protein-coding gene	gene with protein product						16221301	Standard	NM_080390		Approved	my048, MY0876G05, WEX1	uc004eip.3	Q9H3H9	OTTHUMG00000022048	ENST00000372780.1:c.87G>T	X.37:g.101381889G>T	ENSP00000361866:p.Lys29Asn					TCEAL2_ENST00000329035.2_Missense_Mutation_p.K29N	p.K29N	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN			3	306	+			29					B2R5C7	Missense_Mutation	SNP	ENST00000372780.1	37	c.87G>T	CCDS14496.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.289896	0.23478	.	.	ENSG00000184905	ENST00000372780;ENST00000329035	T;T	0.27104	1.69;1.69	2.64	-0.256	0.12984	.	0.543191	0.15428	N	0.262868	T	0.24509	0.0594	L	0.50333	1.59	0.09310	N	1	D	0.57899	0.981	P	0.47864	0.559	T	0.12528	-1.0544	10	0.66056	D	0.02	.	5.1841	0.15174	0.4869:0.0:0.5131:0.0	.	29	Q9H3H9	TCAL2_HUMAN	N	29	ENSP00000361866:K29N;ENSP00000332359:K29N	ENSP00000332359:K29N	K	+	3	2	TCEAL2	101268545	0.005000	0.15991	0.032000	0.17829	0.207000	0.24258	1.147000	0.31602	-0.186000	0.10533	-0.355000	0.07637	AAG		0.423	TCEAL2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057605.1	NM_080390		34	13	1	0	3.90053e-15	1	4.48561e-15	34	13				
KIZ-AS1	101929591	broad.mit.edu	37	20	21143487	21143487	+	RNA	SNP	G	G	T			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr20:21143487G>T	ENST00000591761.1	-	0	5091				PLK1S1_ENST00000457464.1_RNA|RP5-872K7.7_ENST00000425746.2_RNA																							GTCGCCACTTGCAGATCATCT	0.458																																						ENST00000591761.1																			0																				28.0	28.0	28.0					20																	21143487		2196	4298	6494			101929591							g.chr20:21143487G>T																													20.37:g.21143487G>T						PLK1S1_ENST00000457464.1_RNA|RP5-872K7.7_ENST00000425746.2_RNA								0	5091	-									RNA	SNP	ENST00000591761.1	37																																																																																						0.458	RP4-777D9.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078258.2			8	22	1	0	0.0381472	1	0.0383856	8	22				
CXCR2P1	3580	broad.mit.edu	37	2	218925149	218925149	+	RNA	SNP	G	G	A	rs6758271	byFrequency	TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr2:218925149G>A	ENST00000439871.1	-	0	1231					NR_002712.1				chemokine (C-X-C motif) receptor 2 pseudogene 1																		TGATCAAGCCGTGTATGGCTA	0.502													A|||	3424	0.683706	0.8366	0.5749	5008	,	,		24291	0.7768		0.4245	False		,,,				2504	0.7249					ENST00000439871.1																			0																																																			3580							g.chr2:218925149G>A	M98335		2q35	2012-05-02	2010-04-14	2010-04-14	ENSG00000229754	ENSG00000229754			6028	pseudogene	pseudogene			"""interleukin 8 receptor, beta pseudogene"", ""chemokine (C-X-C motif) receptor 2 pseudogene"""	IL8RBP, CXCR2P		1427896, 1303245	Standard	NR_002712		Approved		uc002vgx.3		OTTHUMG00000155244		2.37:g.218925149G>A								NR_002712.1						0	1231	-									RNA	SNP	ENST00000439871.1	37																																																																																						0.502	CXCR2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338985.1	NR_002712		4	49	0	0	0	1	0	4	49				
TBC1D3P2	440452	broad.mit.edu	37	17	60342186	60342186	+	RNA	SNP	T	T	C			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr17:60342186T>C	ENST00000581291.1	-	0	1967									TBC1 domain family, member 3 pseudogene 2											breast(2)|kidney(1)|lung(2)	5						GCTGGGGGTGTTGGGAGGGGC	0.498																																						ENST00000581291.1																			0				breast(2)|kidney(1)|lung(2)	5																																														440452							g.chr17:60342186T>C			17q23.2	2009-05-14				ENSG00000188755			27783	pseudogene	pseudogene							Standard	NR_027486		Approved		uc002izq.2				17.37:g.60342186T>C														0	1967	-									RNA	SNP	ENST00000581291.1	37																																																																																						0.498	TBC1D3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445021.1	NR_027486		4	12	0	0	0	1	0	4	12				
FASN	2194	broad.mit.edu	37	17	80045897	80045897	+	Silent	SNP	C	C	T			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr17:80045897C>T	ENST00000306749.2	-	18	3017	c.2799G>A	c.(2797-2799)ctG>ctA	p.L933L		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	933					acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	GCCGTACCTCCAGGGACACTG	0.667																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2																			0				central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34						c.(2797-2799)ctG>ctA		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						49.0	50.0	50.0					17																	80045897		2202	4299	6501	SO:0001819	synonymous_variant	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80045897C>T	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.2799G>A	17.37:g.80045897C>T							p.L933L	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		18	3017	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		933					Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	ENST00000306749.2	37	c.2799G>A	CCDS11801.1																																																																																				0.667	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		36	72	0	0	0	1	0	36	72				
ACSS1	84532	broad.mit.edu	37	20	25011639	25011639	+	Intron	SNP	A	A	G	rs60849220	byFrequency	TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr20:25011639A>G	ENST00000323482.4	-	3	511				ACSS1_ENST00000537502.1_Silent_p.F46F|ACSS1_ENST00000542618.1_Intron|ACSS1_ENST00000432802.2_Intron	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1						acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process (GO:0006085)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GAGGAGGGCCAAAATGCAGAG	0.517													A|||	471	0.0940495	0.0189	0.1326	5008	,	,		21738	0.0823		0.1799	False		,,,				2504	0.092					ENST00000537502.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(136-138)ttT>ttC		acyl-CoA synthetase short-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	A		223,4183		7,209,1987	24.0	22.0	22.0			2.1	0.0	20	dbSNP_129	22	1569,7031		146,1277,2877	no	intron	ACSS1	NM_032501.2		153,1486,4864	GG,GA,AA		18.2442,5.0613,13.7783			25011639	1792,11214	2203	4300	6503	SO:0001627	intron_variant	84532				acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding	g.chr20:25011639A>G		CCDS13167.1, CCDS58764.1, CCDS58765.1	20p11.23-p11.21	2012-07-13	2005-09-08	2005-09-08	ENSG00000154930	ENSG00000154930	6.2.1.1	"""Acyl-CoA synthetase family"""	16091	protein-coding gene	gene with protein product		614355	"""acetyl-Coenzyme A synthetase 2 (AMP forming)-like"""	ACAS2L			Standard	NM_032501		Approved	dJ568C11.3, AceCS2L, MGC33843	uc002wub.3	Q9NUB1	OTTHUMG00000032112	ENST00000323482.4:c.432-45T>C	20.37:g.25011639A>G						ACSS1_ENST00000432802.2_Intron|ACSS1_ENST00000323482.4_Intron|ACSS1_ENST00000542618.1_Intron	p.F46F			Q9NUB1	ACS2L_HUMAN			1	1669	-			0			Poly-Ala.		B3KXL2|B4DJZ3|D3DW48|F5H6F4|F8W7Y1|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28	Silent	SNP	ENST00000323482.4	37	c.138T>C	CCDS13167.1																																																																																				0.517	ACSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078386.2	NM_032501		3	23	0	0	0	1	0	3	23				
ZNF417	147687	broad.mit.edu	37	19	58420556	58420556	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr19:58420556T>A	ENST00000312026.5	-	3	1254	c.1090A>T	c.(1090-1092)Aag>Tag	p.K364*	CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000536263.1_Nonsense_Mutation_p.K165*|ZNF417_ENST00000595559.1_Nonsense_Mutation_p.K363*	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	364					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		AAGCAGAACTTCTGACGAAAA	0.433																																						ENST00000312026.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18						c.(1090-1092)Aag>Tag		zinc finger protein 417							103.0	96.0	98.0					19																	58420556		2203	4297	6500	SO:0001587	stop_gained	147687				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58420556T>A	BC025783	CCDS12965.1, CCDS74469.1	19q13.43	2013-01-08				ENSG00000173480		"""Zinc fingers, C2H2-type"", ""-"""	20646	protein-coding gene	gene with protein product							Standard	NM_152475		Approved	MGC34079	uc002qqq.3	Q8TAU3		ENST00000312026.5:c.1090A>T	19.37:g.58420556T>A	ENSP00000311319:p.Lys364*					CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000536263.1_Nonsense_Mutation_p.K165*|ZNF417_ENST00000595559.1_Nonsense_Mutation_p.K363*	p.K364*	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)	3	1254	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	364					B4DEU1	Nonsense_Mutation	SNP	ENST00000312026.5	37	c.1090A>T	CCDS12965.1	.	.	.	.	.	.	.	.	.	.	.	41	8.552390	0.98859	.	.	ENSG00000173480	ENST00000312026;ENST00000536263	.	.	.	2.21	1.15	0.20763	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	.	2.7312	0.05227	0.2229:0.1408:0.0:0.6363	.	.	.	.	X	364;165	.	ENSP00000311319:K364X	K	-	1	0	ZNF417	63112368	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.117000	0.15583	0.123000	0.18342	0.254000	0.18369	AAG		0.433	ZNF417-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466860.1	NM_152475		88	63	0	0	0	1	0	88	63				
REV3L	5980	broad.mit.edu	37	6	111701420	111701420	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr6:111701420C>A	ENST00000358835.3	-	12	1673	c.1219G>T	c.(1219-1221)Gac>Tac	p.D407Y	REV3L_ENST00000368805.1_Missense_Mutation_p.D407Y|REV3L_ENST00000368802.3_Missense_Mutation_p.D407Y|REV3L_ENST00000435970.1_Missense_Mutation_p.D329Y			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	407					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GGACTACTGTCCACTATAAAA	0.433								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(985-987)Gac>Tac	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							99.0	90.0	93.0					6																	111701420		2203	4300	6503	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111701420C>A	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.1219G>T	6.37:g.111701420C>A	ENSP00000351697:p.Asp407Tyr					REV3L_ENST00000368802.3_Missense_Mutation_p.D407Y|REV3L_ENST00000358835.3_Missense_Mutation_p.D407Y|REV3L_ENST00000368805.1_Missense_Mutation_p.D407Y	p.D329Y			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	13	1801	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	407					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.985G>T	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	C	21.0	4.075059	0.76415	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	5.71	4.84	0.62591	Ribonuclease H-like (1);	0.492161	0.21078	N	0.080540	T	0.17662	0.0424	L	0.29908	0.895	0.38950	D	0.958332	D	0.56287	0.975	P	0.44990	0.466	T	0.02059	-1.1221	10	0.66056	D	0.02	-10.7411	14.1227	0.65201	0.0:0.9283:0.0:0.0717	.	407	O60673	DPOLZ_HUMAN	Y	407;407;407;329	ENSP00000357792:D407Y;ENSP00000357795:D407Y;ENSP00000351697:D407Y;ENSP00000402003:D329Y	ENSP00000351697:D407Y	D	-	1	0	REV3L	111808113	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	1.913000	0.39956	2.699000	0.92147	0.655000	0.94253	GAC		0.433	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		47	67	1	0	1.7489e-18	1	2.02571e-18	47	67				
IFNA17	3451	broad.mit.edu	37	9	21227775	21227775	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr9:21227775G>C	ENST00000413767.2	-	1	446	c.398C>G	c.(397-399)cCc>cGc	p.P133R		NM_021268.2	NP_067091.1	P01571	IFN17_HUMAN	interferon, alpha 17	133					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			breast(1)|endometrium(2)|lung(4)|ovary(1)|skin(1)	9				Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		ATTCATCAGGGGAGTCTCTTC	0.453																																						ENST00000413767.2																			0				breast(1)|endometrium(2)|lung(4)|ovary(1)|skin(1)	9						c.(397-399)cCc>cGc		interferon, alpha 17							182.0	188.0	186.0					9																	21227775		2203	4298	6501	SO:0001583	missense	3451				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21227775G>C		CCDS6500.1	9p22	2010-12-10			ENSG00000234829	ENSG00000234829		"""Interferons"""	5422	protein-coding gene	gene with protein product		147583				1385305	Standard	NM_021268		Approved	LEIF2C1, IFN-alphaI	uc003zos.1	P01571	OTTHUMG00000019667	ENST00000413767.2:c.398C>G	9.37:g.21227775G>C	ENSP00000411940:p.Pro133Arg						p.P133R	NM_021268.2	NP_067091.1	P01571	IFN17_HUMAN		Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)	1	446	-			133					Q14639|Q4KMT4|Q5VZ53|Q7M4Q4	Missense_Mutation	SNP	ENST00000413767.2	37	c.398C>G	CCDS6500.1	.	.	.	.	.	.	.	.	.	.	g	10.86	1.470567	0.26423	.	.	ENSG00000234829	ENST00000413767	T	0.03272	3.99	2.76	-0.491	0.12045	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.296169	0.27891	N	0.017425	T	0.14917	0.0360	M	0.91090	3.175	0.09310	N	1	P	0.44986	0.847	P	0.62014	0.897	T	0.08638	-1.0712	10	0.87932	D	0	.	2.6162	0.04905	0.2822:0.0:0.4932:0.2246	.	133	P01571	IFN17_HUMAN	R	133	ENSP00000411940:P133R	ENSP00000411940:P133R	P	-	2	0	IFNA17	21217775	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.370000	0.07523	-0.263000	0.09378	0.423000	0.28283	CCC		0.453	IFNA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051896.1	NM_021268		254	71	0	0	0	1	0	254	71				
CCDC121	79635	broad.mit.edu	37	2	27850447	27850447	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr2:27850447C>T	ENST00000324364.3	-	2	400	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K	GPN1_ENST00000503738.1_5'Flank|GPN1_ENST00000458167.2_5'Flank|CCDC121_ENST00000394775.3_Missense_Mutation_p.E236K|RP11-158I13.2_ENST00000505973.1_RNA|GPN1_ENST00000407583.3_5'Flank|GPN1_ENST00000424214.1_5'Flank|GPN1_ENST00000515877.1_5'Flank|GPN1_ENST00000264718.3_5'Flank|ZNF512_ENST00000556601.1_Intron|GPN1_ENST00000610189.1_5'Flank	NM_024584.4	NP_078860.2	Q6ZUS5	CC121_HUMAN	coiled-coil domain containing 121	74										breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(172;0.155)					GAGGCTGATTCTTGTCTTCTT	0.403																																						ENST00000324364.3																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2)	14						c.(220-222)Gaa>Aaa		coiled-coil domain containing 121							209.0	204.0	206.0					2																	27850447		2202	4300	6502	SO:0001583	missense	79635							g.chr2:27850447C>T	AK125354	CCDS1759.1, CCDS46247.1	2p23.2	2008-02-05			ENSG00000176714	ENSG00000176714			25833	protein-coding gene	gene with protein product							Standard	NM_024584		Approved	FLJ43364, FLJ13646	uc002rld.3	Q6ZUS5	OTTHUMG00000128427	ENST00000324364.3:c.220G>A	2.37:g.27850447C>T	ENSP00000339087:p.Glu74Lys					CCDC121_ENST00000394775.3_Missense_Mutation_p.E236K|ZNF512_ENST00000556601.1_Intron|RP11-158I13.2_ENST00000505973.1_RNA	p.E74K	NM_024584.4	NP_078860.2	Q6ZUS5	CC121_HUMAN			2	400	-	Acute lymphoblastic leukemia(172;0.155)		74					B3KW66|J3KQZ8|Q9H8G6	Missense_Mutation	SNP	ENST00000324364.3	37	c.220G>A	CCDS1759.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.888624	0.33348	.	.	ENSG00000176714	ENST00000324364;ENST00000394775	T;T	0.34275	1.37;1.37	5.19	-1.59	0.08453	.	1.290760	0.05296	N	0.522076	T	0.25680	0.0625	L	0.35341	1.055	0.09310	N	1	B	0.19583	0.037	B	0.21360	0.034	T	0.26677	-1.0096	10	0.40728	T	0.16	-20.4855	4.7075	0.12856	0.0:0.3659:0.281:0.3531	.	74	Q6ZUS5	CC121_HUMAN	K	74;236	ENSP00000339087:E74K;ENSP00000412150:E236K	ENSP00000339087:E74K	E	-	1	0	CCDC121	27703951	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.435000	0.06931	-0.305000	0.08831	-0.234000	0.12200	GAA		0.403	CCDC121-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250215.1	NM_024584		136	209	0	0	0	1	0	136	209				
LLGL1	3996	broad.mit.edu	37	17	18145527	18145527	+	Missense_Mutation	SNP	C	C	T	rs150245335	byFrequency	TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr17:18145527C>T	ENST00000316843.4	+	20	3026	c.2930C>T	c.(2929-2931)cCa>cTa	p.P977L		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	977					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					AACGGGACCCCAAGCATCCTG	0.617													C|||	8	0.00159744	0.0	0.0058	5008	,	,		18741	0.0		0.004	False		,,,				2504	0.0					ENST00000316843.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(2929-2931)cCa>cTa		lethal giant larvae homolog 1 (Drosophila)		C	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	137.0	135.0	136.0		2930	4.2	0.8	17	dbSNP_134	136	21,8579	14.0+/-48.4	0,21,4279	yes	missense	LLGL1	NM_004140.3	98	0,22,6481	TT,TC,CC		0.2442,0.0227,0.1692	benign	977/1065	18145527	22,12984	2203	4300	6503	SO:0001583	missense	3996				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity	g.chr17:18145527C>T		CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"""WD repeat domain containing"""	6628	protein-coding gene	gene with protein product		600966	"""lethal giant larvae (Drosophila) homolog 1"""	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.2930C>T	17.37:g.18145527C>T	ENSP00000321537:p.Pro977Leu						p.P977L	NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN			20	3026	+	all_neural(463;0.228)		977					A7MBM7|O00188|Q58F11|Q86UK6	Missense_Mutation	SNP	ENST00000316843.4	37	c.2930C>T	CCDS32586.1	3	0.0013736263736263737	0	0.0	2	0.0055248618784530384	0	0.0	1	0.0013192612137203166	C	13.20	2.167570	0.38315	2.27E-4	0.002442	ENSG00000131899	ENST00000316843	T	0.04603	3.59	5.22	4.23	0.50019	.	0.493241	0.18189	N	0.148870	T	0.02571	0.0078	N	0.22421	0.69	0.38806	D	0.95531	B	0.28128	0.201	B	0.21708	0.036	T	0.51888	-0.8648	10	0.29301	T	0.29	-8.3643	11.6464	0.51263	0.0:0.8132:0.1868:0.0	.	977	Q15334	L2GL1_HUMAN	L	977	ENSP00000321537:P977L	ENSP00000321537:P977L	P	+	2	0	LLGL1	18086252	0.762000	0.28451	0.830000	0.32933	0.992000	0.81027	1.698000	0.37794	1.545000	0.49373	0.655000	0.94253	CCA		0.617	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3			7	140	0	0	0	1	0	7	140				
HIVEP1	3096	broad.mit.edu	37	6	12164245	12164245	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr6:12164245G>A	ENST00000379388.2	+	9	8040	c.7708G>A	c.(7708-7710)Gaa>Aaa	p.E2570K	HIVEP1_ENST00000541134.1_Missense_Mutation_p.E435K	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2570					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GGGAGCTCCAGAAATGCCAGC	0.542																																						ENST00000379388.2																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90						c.(7708-7710)Gaa>Aaa		human immunodeficiency virus type I enhancer binding protein 1							81.0	86.0	84.0					6																	12164245		2039	4192	6231	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12164245G>A	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.7708G>A	6.37:g.12164245G>A	ENSP00000368698:p.Glu2570Lys					HIVEP1_ENST00000541134.1_Missense_Mutation_p.E435K	p.E2570K	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN			9	8040	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	2570					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.7708G>A	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.781635	0.90282	.	.	ENSG00000095951	ENST00000379388;ENST00000541134;ENST00000542327	T;T	0.39056	2.66;1.1	5.6	5.6	0.85130	.	0.208574	0.24001	N	0.042462	T	0.37073	0.0990	L	0.58101	1.795	0.53688	D	0.999974	D	0.59767	0.986	B	0.44224	0.444	T	0.36648	-0.9739	10	0.56958	D	0.05	-15.1942	19.6767	0.95936	0.0:0.0:1.0:0.0	.	2570	P15822	ZEP1_HUMAN	K	2570;435;552	ENSP00000368698:E2570K;ENSP00000445617:E435K	ENSP00000368698:E2570K	E	+	1	0	HIVEP1	12272231	1.000000	0.71417	0.068000	0.19968	0.022000	0.10575	6.656000	0.74396	2.661000	0.90470	0.580000	0.79431	GAA		0.542	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		23	16	0	0	0	1	0	23	16				
ADAM12	8038	broad.mit.edu	37	10	127843862	127843862	+	Silent	SNP	G	G	T			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr10:127843862G>T	ENST00000368679.4	-	4	582	c.273C>A	c.(271-273)gcC>gcA	p.A91A	ADAM12_ENST00000368676.4_Silent_p.A91A	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	91					cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		TGAAACTGCTGGCAATGAGAC	0.433																																						ENST00000368679.4																			0				biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(271-273)gcC>gcA		ADAM metallopeptidase domain 12							134.0	128.0	130.0					10																	127843862		2203	4300	6503	SO:0001819	synonymous_variant	8038				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	g.chr10:127843862G>T	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.273C>A	10.37:g.127843862G>T						ADAM12_ENST00000368676.4_Silent_p.A91A	p.A91A	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)	4	582	-		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)	91					O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Silent	SNP	ENST00000368679.4	37	c.273C>A	CCDS7653.1																																																																																				0.433	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			9	76	1	0	0.000274275	1	0.000286742	9	76				
FAM47C	442444	broad.mit.edu	37	X	37029110	37029110	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chrX:37029110C>T	ENST00000358047.3	+	1	2679	c.2627C>T	c.(2626-2628)cCt>cTt	p.P876L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	876										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GACTTTACCCCTGAGTGCAGA	0.468																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(2626-2628)cCt>cTt		family with sequence similarity 47, member C							120.0	113.0	115.0					X																	37029110		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37029110C>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.2627C>T	X.37:g.37029110C>T	ENSP00000367913:p.Pro876Leu						p.P876L	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	2679	+			876					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.2627C>T	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	C	2.864	-0.235514	0.05944	.	.	ENSG00000198173	ENST00000358047	T	0.71341	-0.56	0.829	-0.95	0.10372	.	.	.	.	.	T	0.65249	0.2673	M	0.68317	2.08	0.09310	N	1	P	0.51351	0.944	P	0.47402	0.546	T	0.56269	-0.8007	8	0.12430	T	0.62	.	.	.	.	.	876	Q5HY64	FA47C_HUMAN	L	876	ENSP00000367913:P876L	ENSP00000367913:P876L	P	+	2	0	FAM47C	36939031	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.870000	0.01641	-0.397000	0.07691	0.277000	0.19347	CCT		0.468	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		45	12	0	0	0	1	0	45	12				
TANC2	26115	broad.mit.edu	37	17	61473152	61473152	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr17:61473152C>G	ENST00000424789.2	+	16	2882	c.2878C>G	c.(2878-2880)Ctc>Gtc	p.L960V	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.L960V|AC015923.1_ENST00000431604.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	960					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						TCATGCTGCACTCCGAGGTCA	0.498																																						ENST00000424789.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						c.(2878-2880)Ctc>Gtc		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2							110.0	112.0	111.0					17																	61473152		2112	4230	6342	SO:0001583	missense	26115						binding	g.chr17:61473152C>G	AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.2878C>G	17.37:g.61473152C>G	ENSP00000387593:p.Leu960Val					RP11-269G24.3_ENST00000583552.1_RNA|AC015923.1_ENST00000431604.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.L960V	p.L960V	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN			16	2882	+			960					Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	ENST00000424789.2	37	c.2878C>G	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.719383	0.89205	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.64991	-0.13;-0.13	5.78	5.78	0.91487	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.68284	0.2984	N	0.20766	0.605	0.58432	D	0.999999	P;D	0.76494	0.93;0.999	P;D	0.73708	0.66;0.981	T	0.66252	-0.5970	10	0.32370	T	0.25	.	19.9991	0.97403	0.0:1.0:0.0:0.0	.	960;960	Q9HCD6-2;Q9HCD6	.;TANC2_HUMAN	V	960	ENSP00000374171:L960V;ENSP00000387593:L960V	ENSP00000374171:L960V	L	+	1	0	TANC2	58826884	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	6.072000	0.71238	2.724000	0.93272	0.655000	0.94253	CTC		0.498	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			15	6	0	0	0	1	0	15	6				
CACNA1C	775	broad.mit.edu	37	12	2602465	2602465	+	Silent	SNP	C	C	A			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr12:2602465C>A	ENST00000347598.4	+	7	1026	c.1026C>A	c.(1024-1026)ggC>ggA	p.G342G	CACNA1C_ENST00000402845.3_Silent_p.G342G|CACNA1C_ENST00000399621.1_Silent_p.G342G|CACNA1C_ENST00000327702.7_Silent_p.G342G|CACNA1C_ENST00000399644.1_Silent_p.G342G|CACNA1C_ENST00000399655.1_Silent_p.G342G|CACNA1C_ENST00000399637.1_Silent_p.G342G|CACNA1C_ENST00000399595.1_Silent_p.G342G|CACNA1C_ENST00000480911.1_Silent_p.G342G|CACNA1C_ENST00000399629.1_Silent_p.G342G|CACNA1C_ENST00000399638.1_Silent_p.G342G|CACNA1C_ENST00000399634.1_Silent_p.G342G|CACNA1C_ENST00000399649.1_Silent_p.G342G|CACNA1C_ENST00000399641.1_Silent_p.G342G|CACNA1C_ENST00000344100.3_Silent_p.G342G|CACNA1C_ENST00000399617.1_Silent_p.G342G|CACNA1C_ENST00000399591.1_Silent_p.G342G|CACNA1C_ENST00000406454.3_Silent_p.G342G|CACNA1C_ENST00000399601.1_Silent_p.G342G|CACNA1C_ENST00000399603.1_Silent_p.G342G|CACNA1C_ENST00000399606.1_Silent_p.G342G|CACNA1C_ENST00000335762.5_Silent_p.G342G|CACNA1C_ENST00000399597.1_Silent_p.G342G	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	342					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCAAGCACGGCATCACCAACT	0.607																																						ENST00000399655.1																			0				NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(1024-1026)ggC>ggA		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						157.0	154.0	155.0					12																	2602465		2202	4300	6502	SO:0001819	synonymous_variant	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2602465C>A	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.1026C>A	12.37:g.2602465C>A						CACNA1C_ENST00000399638.1_Silent_p.G342G|CACNA1C_ENST00000399595.1_Silent_p.G342G|CACNA1C_ENST00000406454.3_Silent_p.G342G|CACNA1C_ENST00000344100.3_Silent_p.G342G|CACNA1C_ENST00000399591.1_Silent_p.G342G|CACNA1C_ENST00000335762.5_Silent_p.G342G|CACNA1C_ENST00000399606.1_Silent_p.G342G|CACNA1C_ENST00000399603.1_Silent_p.G342G|CACNA1C_ENST00000480911.1_Silent_p.G342G|CACNA1C_ENST00000327702.7_Silent_p.G342G|CACNA1C_ENST00000399629.1_Silent_p.G342G|CACNA1C_ENST00000399634.1_Silent_p.G342G|CACNA1C_ENST00000399597.1_Silent_p.G342G|CACNA1C_ENST00000399644.1_Silent_p.G342G|CACNA1C_ENST00000399637.1_Silent_p.G342G|CACNA1C_ENST00000402845.3_Silent_p.G342G|CACNA1C_ENST00000399649.1_Silent_p.G342G|CACNA1C_ENST00000399601.1_Silent_p.G342G|CACNA1C_ENST00000399621.1_Silent_p.G342G|CACNA1C_ENST00000399641.1_Silent_p.G342G|CACNA1C_ENST00000347598.4_Silent_p.G342G|CACNA1C_ENST00000399617.1_Silent_p.G342G	p.G342G	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	7	1291	+			342					B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	ENST00000347598.4	37	c.1026C>A	CCDS44788.1																																																																																				0.607	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		80	161	1	0	6.86016e-32	1	8.24243e-32	80	161				
SGTB	54557	broad.mit.edu	37	5	64976529	64976529	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr5:64976529G>C	ENST00000381007.4	-	7	807	c.572C>G	c.(571-573)tCa>tGa	p.S191*		NM_019072.2	NP_061945.1	Q96EQ0	SGTB_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta	191										large_intestine(3)|lung(3)|skin(3)	9		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)		TTTCAGATTTGACTTATAGGA	0.368																																						ENST00000381007.4																			0				large_intestine(3)|lung(3)|skin(3)	9						c.(571-573)tCa>tGa		small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta							190.0	193.0	192.0					5																	64976529		2203	4300	6503	SO:0001587	stop_gained	54557						binding	g.chr5:64976529G>C	AK096321	CCDS3988.1	5q12.3	2013-01-10			ENSG00000197860	ENSG00000197860		"""Tetratricopeptide (TTC) repeat domain containing"""	23567	protein-coding gene	gene with protein product						12477932	Standard	XM_005248548		Approved	Sgt2, FLJ39002	uc003jud.3	Q96EQ0	OTTHUMG00000097801	ENST00000381007.4:c.572C>G	5.37:g.64976529G>C	ENSP00000370395:p.Ser191*						p.S191*	NM_019072.2	NP_061945.1	Q96EQ0	SGTB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)	7	807	-		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)	191						Nonsense_Mutation	SNP	ENST00000381007.4	37	c.572C>G	CCDS3988.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.809319	0.90707	.	.	ENSG00000197860	ENST00000381007;ENST00000506816	.	.	.	5.31	5.31	0.75309	.	0.137304	0.51477	D	0.000094	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-9.2758	12.3458	0.55119	0.0773:0.0:0.9227:0.0	.	.	.	.	X	191	.	ENSP00000370395:S191X	S	-	2	0	SGTB	65012285	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.659000	0.83766	2.496000	0.84212	0.557000	0.71058	TCA		0.368	SGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215057.2	NM_019072		26	92	0	0	0	1	0	26	92				
DUSP27	92235	broad.mit.edu	37	1	167097229	167097229	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr1:167097229G>A	ENST00000361200.2	+	6	3027	c.2861G>A	c.(2860-2862)tGg>tAg	p.W954*	DUSP27_ENST00000443333.1_Nonsense_Mutation_p.W954*|DUSP27_ENST00000271385.5_Nonsense_Mutation_p.W954*|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	954	Ser-rich.				protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CAAAGTGACTGGTCTGGAAGT	0.483																																						ENST00000361200.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						c.(2860-2862)tGg>tAg		dual specificity phosphatase 27 (putative)							55.0	50.0	52.0					1																	167097229		2203	4300	6503	SO:0001587	stop_gained	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167097229G>A	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.2861G>A	1.37:g.167097229G>A	ENSP00000354483:p.Trp954*					DUSP27_ENST00000271385.5_Nonsense_Mutation_p.W954*|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Nonsense_Mutation_p.W954*	p.W954*			Q5VZP5	DUS27_HUMAN			6	3027	+			954			Ser-rich.		A0AUM4|Q9C074	Nonsense_Mutation	SNP	ENST00000361200.2	37	c.2861G>A	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	G	40	8.043843	0.98624	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	.	.	.	5.25	5.25	0.73442	.	0.138311	0.34245	N	0.004127	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.4883	12.6661	0.56844	0.0862:0.0:0.9138:0.0	.	.	.	.	X	954	.	ENSP00000271385:W954X	W	+	2	0	DUSP27	165363853	0.782000	0.28689	0.993000	0.49108	0.845000	0.48019	2.351000	0.44071	2.422000	0.82143	0.643000	0.83706	TGG		0.483	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		15	41	0	0	0	1	0	15	41				
SLC20A1	6574	broad.mit.edu	37	2	113418038	113418039	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr2:113418038_113418039insA	ENST00000272542.3	+	9	2221_2222	c.1682_1683insA	c.(1681-1686)ccaatafs	p.I562fs		NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	562					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	high-affinity inorganic phosphate:sodium symporter activity (GO:0005316)|inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|sodium:phosphate symporter activity (GO:0005436)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						GTGGCAACACCAATATGGCTTC	0.455																																						ENST00000272542.3																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						c.(1681-1683)catfs		solute carrier family 20 (phosphate transporter), member 1																																				SO:0001589	frameshift_variant	6574				phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity	g.chr2:113418038_113418039insA		CCDS2099.1	2q13	2013-05-22			ENSG00000144136	ENSG00000144136		"""Solute carriers"""	10946	protein-coding gene	gene with protein product	"""gibbon ape leukemia virus receptor 1"""	137570		GLVR1		8041748	Standard	NM_005415		Approved	PiT-1, Glvr-1	uc002tib.3	Q8WUM9	OTTHUMG00000131317	ENST00000272542.3:c.1684dupA	2.37:g.113418040_113418040dupA	ENSP00000272542:p.Ile562fs						p.H561fs	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN			9	2221_2222	+			561					Q08344|Q6DHX8|Q9UQ82	Frame_Shift_Ins	INS	ENST00000272542.3	37	c.1682_1683insA	CCDS2099.1																																																																																				0.455	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254086.2	NM_005415		104	138						104	138	---	---	---	---
MYO7B	4648	broad.mit.edu	37	2	128350410	128350410	+	Silent	SNP	G	G	A	rs370974785		TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr2:128350410G>A	ENST00000409816.2	+	16	2066	c.2034G>A	c.(2032-2034)tcG>tcA	p.S678S	MYO7B_ENST00000428314.1_Silent_p.S678S|MYO7B_ENST00000389524.4_Silent_p.S678S			Q6PIF6	MYO7B_HUMAN	myosin VIIB	678	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TGCGATACTCGGGCATGATGG	0.657																																						ENST00000389524.4																			0				breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75						c.(2032-2034)tcG>tcA		myosin VIIB		G		0,4126		0,0,2063	26.0	34.0	32.0		2034	-9.9	0.0	2		32	1,8387		0,1,4193	no	coding-synonymous	MYO7B	NM_001080527.1		0,1,6256	AA,AG,GG		0.0119,0.0,0.0080		678/2117	128350410	1,12513	2063	4194	6257	SO:0001819	synonymous_variant	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128350410G>A		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.2034G>A	2.37:g.128350410G>A						MYO7B_ENST00000428314.1_Silent_p.S678S|MYO7B_ENST00000409816.2_Silent_p.S678S	p.S678S			Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	17	2087	+	Colorectal(110;0.1)		678			Myosin head-like.		Q14786|Q8TEE1	Silent	SNP	ENST00000409816.2	37	c.2034G>A	CCDS46405.1																																																																																				0.657	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		8	7	0	0	0	1	0	8	7				
CYP20A1	57404	broad.mit.edu	37	2	204150380	204150380	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr2:204150380delA	ENST00000356079.4	+	9	1019	c.896delA	c.(895-897)caafs	p.Q299fs	CYP20A1_ENST00000429815.2_Frame_Shift_Del_p.Q307fs|CYP20A1_ENST00000461371.1_3'UTR	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	299						integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						GAAGAAGTTCAAAAAAAATTA	0.348																																						ENST00000356079.4																			0				cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						c.(895-897)cafs		cytochrome P450, family 20, subfamily A, polypeptide 1							65.0	72.0	70.0					2																	204150380		2203	4292	6495	SO:0001589	frameshift_variant	57404					integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr2:204150380delA	AK021770	CCDS2357.1	2q33	2008-02-05			ENSG00000119004	ENSG00000119004		"""Cytochrome P450s"""	20576	protein-coding gene	gene with protein product							Standard	NM_177538		Approved	CYP-M	uc002uzv.4	Q6UW02	OTTHUMG00000132854	ENST00000356079.4:c.896delA	2.37:g.204150380delA	ENSP00000348380:p.Gln299fs					CYP20A1_ENST00000429815.2_Frame_Shift_Del_p.Q307fs|CYP20A1_ENST00000461371.1_3'UTR	p.Q299fs	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN			9	1019	+			299					Q4ZG61|Q8N4Q8|Q8WWA9|Q9HC04	Frame_Shift_Del	DEL	ENST00000356079.4	37	c.896delA	CCDS2357.1																																																																																				0.348	CYP20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256328.3	NM_020674		7	220						7	220	---	---	---	---
SYNCRIP	10492	broad.mit.edu	37	6	86332353	86332354	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr6:86332353_86332354insT	ENST00000369622.3	-	8	1354_1355	c.854_855insA	c.(853-855)aacfs	p.N285fs	SYNCRIP_ENST00000355238.6_Frame_Shift_Ins_p.N285fs	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	285	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		AAAAGCCTCTGTTTTTTTTCTT	0.411																																						ENST00000355238.6																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(853-855)aagfs		synaptotagmin binding, cytoplasmic RNA interacting protein																																				SO:0001589	frameshift_variant	10492				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding	g.chr6:86332353_86332354insT	AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"""RNA binding motif (RRM) containing"""	16918	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein Q"""					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.855dupA	6.37:g.86332361_86332361dupT	ENSP00000358635:p.Asn285fs					SYNCRIP_ENST00000369622.3_Frame_Shift_Ins_p.K285fs	p.K285fs	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0389)	8	1060_1061	-		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)	285			RRM 2.		E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Frame_Shift_Ins	INS	ENST00000369622.3	37	c.854_855insA	CCDS5005.1																																																																																				0.411	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041396.1	NM_006372		7	271						7	271	---	---	---	---
KIAA1217	56243	broad.mit.edu	37	10	24762969	24762970	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr10:24762969_24762970insC	ENST00000376454.3	+	6	1689_1690	c.1659_1660insC	c.(1660-1662)cccfs	p.P554fs	KIAA1217_ENST00000307544.6_Frame_Shift_Ins_p.P272fs|KIAA1217_ENST00000430453.2_Frame_Shift_Ins_p.P475fs|KIAA1217_ENST00000396445.1_Frame_Shift_Ins_p.P272fs|KIAA1217_ENST00000376451.2_Frame_Shift_Ins_p.P272fs|KIAA1217_ENST00000376462.1_Frame_Shift_Ins_p.P474fs|KIAA1217_ENST00000396446.1_Frame_Shift_Ins_p.P272fs|KIAA1217_ENST00000376452.3_Frame_Shift_Ins_p.P554fs|KIAA1217_ENST00000458595.1_Frame_Shift_Ins_p.P554fs	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	554					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CGGCGACAATACCCAAAGACAG	0.55																																						ENST00000376451.2																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(811-816)atccaafs		KIAA1217																																				SO:0001589	frameshift_variant	56243				embryonic skeletal system development	cytoplasm		g.chr10:24762969_24762970insC	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.1662dupC	10.37:g.24762972_24762972dupC	ENSP00000365637:p.Pro554fs					KIAA1217_ENST00000396446.1_Frame_Shift_Ins_p.Q272fs|KIAA1217_ENST00000458595.1_Frame_Shift_Ins_p.Q554fs|KIAA1217_ENST00000376454.3_Frame_Shift_Ins_p.Q554fs|KIAA1217_ENST00000376452.3_Frame_Shift_Ins_p.Q554fs|KIAA1217_ENST00000430453.2_Frame_Shift_Ins_p.Q475fs|KIAA1217_ENST00000307544.6_Frame_Shift_Ins_p.Q272fs|KIAA1217_ENST00000396445.1_Frame_Shift_Ins_p.Q272fs|KIAA1217_ENST00000376462.1_Frame_Shift_Ins_p.Q474fs	p.Q272fs			Q5T5P2	SKT_HUMAN			2	1073_1074	+			554					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Frame_Shift_Ins	INS	ENST00000376454.3	37	c.813_814insC	CCDS31165.1																																																																																				0.550	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		30	12						30	12	---	---	---	---
H2AFX	3014	broad.mit.edu	37	11	118965860	118965860	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr11:118965860delC	ENST00000530167.1	-	1	317	c.245delG	c.(244-246)cgcfs	p.R82fs		NM_002105.2	NP_002096.1	P16104	H2AX_HUMAN	H2A histone family, member X	82					cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|nucleosome assembly (GO:0006334)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)			lung(3)	3	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		CTGCAGGTGGCGGGGGATGAT	0.662								Chromatin Structure			OREG0021395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000530167.1																			0				lung(3)	3						c.(244-246)ccfs	Chromatin Structure	H2A histone family, member X							91.0	91.0	91.0					11																	118965860		2200	4295	6495	SO:0001589	frameshift_variant	3014				DNA damage checkpoint|double-strand break repair via homologous recombination|meiosis|nucleosome assembly|positive regulation of DNA repair|response to ionizing radiation	nucleoplasm|nucleosome	DNA binding|enzyme binding|histone binding	g.chr11:118965860delC	X14850	CCDS8410.1	11q23.3	2011-01-27						"""Histones / Replication-independent"""	4739	protein-coding gene	gene with protein product		601772		H2AX		8076949	Standard	NM_002105		Approved		uc001pvg.3	P16104		ENST00000530167.1:c.245delG	11.37:g.118965860delC	ENSP00000434024:p.Arg82fs		OREG0021395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1492		p.R82fs	NM_002105.2	NP_002096.1	P16104	H2AX_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)	1	317	-	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	82					Q4ZGJ7|Q6IAS5	Frame_Shift_Del	DEL	ENST00000530167.1	37	c.245delG	CCDS8410.1																																																																																				0.662	H2AFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388330.2	NM_002105		52	120						52	120	---	---	---	---
ABCC4	10257	broad.mit.edu	37	13	95696016	95696016	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr13:95696016delT	ENST00000376887.4	-	29	3769	c.3655delA	c.(3655-3657)atcfs	p.I1219fs	ABCC4_ENST00000412704.1_Frame_Shift_Del_p.I1172fs	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	1219	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	TTCTCCCGGATTTTTTTTTGT	0.378																																						ENST00000376887.4																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(3655-3657)tcfs		ATP-binding cassette, sub-family C (CFTR/MRP), member 4	Cefazolin(DB01327)						105.0	104.0	104.0					13																	95696016		2203	4300	6503	SO:0001589	frameshift_variant	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95696016delT	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.3655delA	13.37:g.95696016delT	ENSP00000366084:p.Ile1219fs					ABCC4_ENST00000412704.1_Frame_Shift_Del_p.I1172fs	p.I1219fs	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN			29	3769	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		1219			ABC transporter 2.		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Frame_Shift_Del	DEL	ENST00000376887.4	37	c.3655delA	CCDS9474.1																																																																																				0.378	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		7	166						7	166	---	---	---	---
SMG1P4	100507526	broad.mit.edu	37	16	21893285	21893299	+	RNA	DEL	TATTGGTTAGCTTGT	TATTGGTTAGCTTGT	-	rs201332045	byFrequency	TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr16:21893285_21893299delTATTGGTTAGCTTGT	ENST00000540706.1	-	0	1710																											GTAATTAAAATATTGGTTAGCTTGTATTCCTATGC	0.335																																						ENST00000540706.1																			0																																																			100507526							g.chr16:21893285_21893299delTATTGGTTAGCTTGT																													16.37:g.21893285_21893299delTATTGGTTAGCTTGT														0	1710	-									RNA	DEL	ENST00000540706.1	37																																																																																						0.335	RP11-645C24.2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000402428.1			17	8						17	8	---	---	---	---
WSCD1	23302	broad.mit.edu	37	17	6021339	6021350	+	In_Frame_Del	DEL	CCGACGCACCAT	CCGACGCACCAT	-	rs367620024|rs542782974|rs574084478|rs200668362	byFrequency	TCGA-CQ-A4CI-01A-11D-A25Y-08	TCGA-CQ-A4CI-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcadacd-7540-4143-ab82-15889248d286	83a03ed6-2b0b-42f5-bac6-d5146df9c520	g.chr17:6021339_6021350delCCGACGCACCAT	ENST00000574946.1	+	8	1596_1607	c.1206_1217delCCGACGCACCAT	c.(1204-1218)agccgacgcaccatc>agc	p.RRTI403del	WSCD1_ENST00000573634.1_In_Frame_Del_p.RRTI287del|WSCD1_ENST00000539421.1_In_Frame_Del_p.RRTI403del|WSCD1_ENST00000317744.5_In_Frame_Del_p.RRTI403del|WSCD1_ENST00000574232.1_In_Frame_Del_p.RRTI403del			Q658N2	WSCD1_HUMAN	WSC domain containing 1	403						integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)	p.R404H(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						ACTGGCGGAGCCGACGCACCATCTGTGTCAAA	0.552																																						ENST00000574946.1																			1	Substitution - Missense(1)	p.R404H(1)	large_intestine(1)	breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						c.(1204-1218)agc>ag		WSC domain containing 1																																				SO:0001651	inframe_deletion	23302					integral to membrane	sulfotransferase activity	g.chr17:6021339_6021350delCCGACGCACCAT		CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.1206_1217delCCGACGCACCAT	17.37:g.6021339_6021350delCCGACGCACCAT	ENSP00000460825:p.Arg403_Ile406del					WSCD1_ENST00000573634.1_In_Frame_Del_p.SRRTI286del|WSCD1_ENST00000574232.1_In_Frame_Del_p.SRRTI402del|WSCD1_ENST00000539421.1_In_Frame_Del_p.SRRTI402del|WSCD1_ENST00000317744.5_In_Frame_Del_p.SRRTI402del	p.SRRTI402del			Q658N2	WSCD1_HUMAN			8	1596_1607	+			402					A8K0N8|D3DTM3|O60276|Q96G45	In_Frame_Del	DEL	ENST00000574946.1	37	c.1206_1217delCCGACGCACCAT	CCDS32538.1																																																																																				0.552	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438965.4	NM_015253		29	39						29	39	---	---	---	---
