#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_match_norm_validation_allele1	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_tumor_sample
PTCHD2	57540	broad.mit.edu	37	1	11596632	11596632	+	Silent	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr1:11596632C>T	ENST00000294484.6	+	21	4206	c.4068C>T	c.(4066-4068)ttC>ttT	p.F1356F	PTCHD2_ENST00000304391.6_Missense_Mutation_p.P243S|PTCHD2_ENST00000389575.3_Silent_p.F1356F	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1356					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GGACTTCCTTCCTCAAGGCCC	0.672																																						uc001ash.3		NaN																	0				skin(3)|ovary(2)|pancreas(1)|breast(1)	7						c.(4066-4068)TTC>TTT		patched domain containing 2							34.0	38.0	36.0					1																	11596632		2133	4243	6376	SO:0001819	synonymous_variant	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11596632C>T	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.4068C>T	1.37:g.11596632C>T							p.F1356F	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	21	4206	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	1356			Extracellular (Potential).		Q5VTU9|Q9UJD6	Silent	SNP	ENST00000294484.6	37	c.4068C>T	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	C	10.64	1.408245	0.25378	.	.	ENSG00000204624	ENST00000304391	.	.	.	5.02	2.03	0.26663	.	.	.	.	.	T	0.63651	0.2529	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63825	-0.6549	5	0.87932	D	0	-33.4256	8.4927	0.33110	0.0:0.6867:0.0:0.3133	.	.	.	.	S	243	.	ENSP00000303400:P243S	P	+	1	0	PTCHD2	11519219	0.998000	0.40836	1.000000	0.80357	0.932000	0.56968	0.458000	0.21892	0.502000	0.28037	-0.258000	0.10820	CCT		0.672	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2		XM_052561		15	14	0	0	0	0.00499	0	15	14		
AGTRAP	57085	broad.mit.edu	37	1	11810185	11810185	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr1:11810185C>T	ENST00000314340.5	+	5	470	c.416C>T	c.(415-417)gCa>gTa	p.A139V	AGTRAP_ENST00000452018.2_3'UTR|AGTRAP_ENST00000376637.3_3'UTR|AGTRAP_ENST00000491346.1_3'UTR|AGTRAP_ENST00000510878.1_Nonsense_Mutation_p.Q104*|AGTRAP_ENST00000400895.2_3'UTR|AGTRAP_ENST00000376627.2_3'UTR|AGTRAP_ENST00000376629.4_Missense_Mutation_p.A132V	NM_020350.4	NP_065083.3	Q6RW13	ATRAP_HUMAN	angiotensin II receptor-associated protein	139					regulation of blood pressure (GO:0008217)|response to hypoxia (GO:0001666)	cell cortex (GO:0005938)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)		AGTRAP/BRAF(2)	endometrium(1)|lung(3)|prostate(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.46e-06)|COAD - Colon adenocarcinoma(227;0.000256)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		ATTGACTCAGCAGAGGCGCCC	0.607																																						uc001asv.2		NaN																AGTRAP/BRAF(2)	0				stomach(2)	2						c.(415-417)GCA>GTA		angiotensin II receptor-associated protein							69.0	64.0	65.0					1																	11810185		2203	4300	6503	SO:0001583	missense	57085					cytoplasmic vesicle membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein binding	g.chr1:11810185C>T	AF165187	CCDS136.1, CCDS30585.1, CCDS30586.1, CCDS41248.1, CCDS44056.1	1p36.22	2008-02-05			ENSG00000177674	ENSG00000177674			13539	protein-coding gene	gene with protein product		608729				11733189	Standard	NM_001040194		Approved	ATRAP	uc001asv.3	Q6RW13	OTTHUMG00000002230	ENST00000314340.5:c.416C>T	1.37:g.11810185C>T	ENSP00000319713:p.Ala139Val					AGTRAP_uc001ast.2_3'UTR|AGTRAP_uc001asu.2_3'UTR|AGTRAP_uc001asw.2_Missense_Mutation_p.A132V|AGTRAP_uc001asx.2_3'UTR	p.A139V	NM_020350	NP_065083	Q6RW13	ATRAP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.46e-06)|COAD - Colon adenocarcinoma(227;0.000256)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)	5	540	+	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	139			Cytoplasmic (Potential).		A8MVQ5|Q5SNV4|Q5SNV5|Q96AC0|Q96PL4|Q9NRW9	Missense_Mutation	SNP	ENST00000314340.5	37	c.416C>T	CCDS136.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.25|12.25	1.880944|1.880944	0.33255|0.33255	.|.	.|.	ENSG00000177674|ENSG00000177674	ENST00000376629;ENST00000314340|ENST00000510878	T;T|.	0.44083|.	0.93;0.93|.	5.0|5.0	4.02|4.02	0.46733|0.46733	.|.	1.468830|.	0.05325|.	U|.	0.527313|.	T|.	0.29223|.	0.0727|.	N|N	0.03608|0.03608	-0.345|-0.345	0.58432|0.58432	D|D	0.99999|0.99999	B;B|.	0.06786|.	0.0;0.001|.	B;B|.	0.11329|.	0.0;0.006|.	T|.	0.10314|.	-1.0635|.	10|.	0.15952|0.16420	T|T	0.53|0.52	.|.	9.6909|9.6909	0.40127|0.40127	0.2217:0.7783:0.0:0.0|0.2217:0.7783:0.0:0.0	.|.	132;139|.	Q6RW13-2;Q6RW13|.	.;ATRAP_HUMAN|.	V|X	132;139|104	ENSP00000365816:A132V;ENSP00000319713:A139V|.	ENSP00000319713:A139V|ENSP00000422647:Q104X	A|Q	+|+	2|1	0|0	AGTRAP|AGTRAP	11732772|11732772	.|.	.|.	0.010000|0.010000	0.14722|0.14722	0.100000|0.100000	0.18952|0.18952	.|.	.|.	2.579000|2.579000	0.87056|0.87056	0.561000|0.561000	0.74099|0.74099	GCA|CAG		0.607	AGTRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006335.1		NM_020350		14	35	0	0	0	0.004007	0	14	35		
EPHA8	2046	broad.mit.edu	37	1	22902808	22902808	+	Silent	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr1:22902808G>A	ENST00000166244.3	+	3	330	c.258G>A	c.(256-258)acG>acA	p.T86T	EPHA8_ENST00000538803.1_Silent_p.T86T|EPHA8_ENST00000374644.4_Silent_p.T86T	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	86	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGCTGCGCACGAGCTGGGTCC	0.617																																						uc001bfx.1		NaN																	0				central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13						c.(256-258)ACG>ACA		ephrin receptor EphA8 isoform 1 precursor							74.0	73.0	74.0					1																	22902808		2203	4300	6503	SO:0001819	synonymous_variant	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22902808G>A	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.258G>A	1.37:g.22902808G>A						EPHA8_uc001bfw.2_Silent_p.T86T	p.T86T	NM_020526	NP_065387	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	3	383	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	86			Extracellular (Potential).		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Silent	SNP	ENST00000166244.3	37	c.258G>A	CCDS225.1																																																																																				0.617	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1		NM_020526		50	83	0	0	0	0.01441	0	50	83		
EPHA8	2046	broad.mit.edu	37	1	22902965	22902965	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr1:22902965G>C	ENST00000166244.3	+	3	487	c.415G>C	c.(415-417)Gaa>Caa	p.E139Q	EPHA8_ENST00000538803.1_Missense_Mutation_p.E139Q|EPHA8_ENST00000374644.4_Missense_Mutation_p.E139Q	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	139	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CAGCACACAAGAAAGCCAGTT	0.612																																						uc001bfx.1		NaN																	0				central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13						c.(415-417)GAA>CAA		ephrin receptor EphA8 isoform 1 precursor							82.0	72.0	76.0					1																	22902965		2203	4300	6503	SO:0001583	missense	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22902965G>C	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.415G>C	1.37:g.22902965G>C	ENSP00000166244:p.Glu139Gln					EPHA8_uc001bfw.2_Missense_Mutation_p.E139Q	p.E139Q	NM_020526	NP_065387	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	3	540	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	139			Extracellular (Potential).		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	c.415G>C	CCDS225.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.669654	0.67814	.	.	ENSG00000070886	ENST00000166244;ENST00000374644;ENST00000538803	T;T;T	0.11277	2.79;2.79;2.79	4.29	4.29	0.51040	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.37433	0.1003	M	0.84511	2.7	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.947	T	0.42241	-0.9463	10	0.87932	D	0	.	15.4668	0.75406	0.0:0.0:1.0:0.0	.	139;139	P29322;P29322-2	EPHA8_HUMAN;.	Q	139	ENSP00000166244:E139Q;ENSP00000363775:E139Q;ENSP00000440274:E139Q	ENSP00000166244:E139Q	E	+	1	0	EPHA8	22775552	1.000000	0.71417	0.446000	0.26920	0.615000	0.37417	9.612000	0.98347	2.212000	0.71576	0.442000	0.29010	GAA		0.612	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1		NM_020526		42	60	0	0	0	0.011902	0	42	60		
ARID1A	8289	broad.mit.edu	37	1	27100988	27100988	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr1:27100988C>T	ENST00000324856.7	+	18	4641	c.4270C>T	c.(4270-4272)Cag>Tag	p.Q1424*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q1041*|ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000540690.1_Intron	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1424					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.Q1424*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCCTTCCCCTCAGCAAGATGT	0.622			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1		NaN		Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		1	Substitution - Nonsense(1)		breast(1)	ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(4270-4272)CAG>TAG		AT rich interactive domain 1A isoform a							66.0	64.0	65.0					1																	27100988		2203	4300	6503	SO:0001587	stop_gained	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27100988C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.4270C>T	1.37:g.27100988C>T	ENSP00000320485:p.Gln1424*					ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q1423*|ARID1A_uc001bmu.1_Intron|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q1041*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.Q270*|ARID1A_uc009vsm.1_Intron|ARID1A_uc009vsn.1_5'UTR	p.Q1424*	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	18	4643	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1424					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	c.4270C>T	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	43|43	10.038871|10.038871	0.99323|0.99323	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000324856;ENST00000374152|ENST00000430799	.|.	.|.	.|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.051697|.	0.85682|.	D|.	0.000000|.	.|T	.|0.71467	.|0.3343	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.68610	.|-0.5363	.|4	0.49607|.	T|.	0.09|.	-6.4226|-6.4226	15.208|15.208	0.73195|0.73195	0.0:0.86:0.14:0.0|0.0:0.86:0.14:0.0	.|.	.|.	.|.	.|.	X|L	1424;1041|320	.|.	ENSP00000320485:Q1424X|.	Q|S	+|+	1|2	0|0	ARID1A|ARID1A	26973575|26973575	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	3.908000|3.908000	0.56355|0.56355	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.622	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2		NM_139135		40	68	0	0	0	0.006999	0	40	68		
ARID1A	8289	broad.mit.edu	37	1	27101586	27101586	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr1:27101586C>T	ENST00000324856.7	+	18	5239	c.4868C>T	c.(4867-4869)tCg>tTg	p.S1623L	ARID1A_ENST00000374152.2_Missense_Mutation_p.S1240L|ARID1A_ENST00000457599.2_Missense_Mutation_p.S1406L|ARID1A_ENST00000540690.1_Intron	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1623					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GTACCTGCCTCGCACATAGCA	0.602			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1		NaN		Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		0				ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(4867-4869)TCG>TTG		AT rich interactive domain 1A isoform a							70.0	72.0	71.0					1																	27101586		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27101586C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.4868C>T	1.37:g.27101586C>T	ENSP00000320485:p.Ser1623Leu					ARID1A_uc001bmt.1_Missense_Mutation_p.S1622L|ARID1A_uc001bmu.1_Missense_Mutation_p.S1406L|ARID1A_uc001bmw.1_Missense_Mutation_p.S1240L|ARID1A_uc001bmx.1_Missense_Mutation_p.S469L|ARID1A_uc009vsm.1_Intron|ARID1A_uc009vsn.1_5'UTR	p.S1623L	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	18	5241	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1623					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.4868C>T	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.035379	0.75617	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	T;T;T	0.02837	4.32;4.14;4.14	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.13798	0.0334	M	0.61703	1.905	0.80722	D	1	D;D;D;D	0.76494	0.966;0.974;0.999;0.999	P;P;D;D	0.77557	0.654;0.452;0.99;0.978	T	0.00300	-1.1835	10	0.52906	T	0.07	-4.2824	18.5223	0.90958	0.0:1.0:0.0:0.0	.	1240;1623;1406;1276	O14497-3;O14497;O14497-2;Q4LE49	.;ARI1A_HUMAN;.;.	L	1623;1406;1240	ENSP00000320485:S1623L;ENSP00000387636:S1406L;ENSP00000363267:S1240L	ENSP00000320485:S1623L	S	+	2	0	ARID1A	26974173	1.000000	0.71417	0.902000	0.35471	0.878000	0.50629	7.236000	0.78154	2.615000	0.88500	0.655000	0.94253	TCG		0.602	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2		NM_139135		52	78	0	0	0	0.01441	0	52	78		
FAM76A	199870	broad.mit.edu	37	1	28086093	28086093	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr1:28086093G>A	ENST00000373954.6	+	8	894	c.792G>A	c.(790-792)atG>atA	p.M264I	FAM76A_ENST00000234549.7_Missense_Mutation_p.M269I|FAM76A_ENST00000419687.2_Missense_Mutation_p.M184I|FAM76A_ENST00000010299.6_Missense_Mutation_p.M298I|FAM76A_ENST00000530324.1_Missense_Mutation_p.M264I|FAM76A_ENST00000373949.1_Missense_Mutation_p.M235I	NM_001143912.1|NM_152660.2	NP_001137384.1|NP_689873.1	Q8TAV0	FA76A_HUMAN	family with sequence similarity 76, member A	264										endometrium(4)|kidney(2)|large_intestine(1)|lung(2)	9		Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)		GAGCCAAAATGAACCAGATGG	0.413																																						uc001boq.2		NaN																	0					0						c.(790-792)ATG>ATA		hypothetical protein LOC199870 isoform 3							101.0	99.0	100.0					1																	28086093		2203	4300	6503	SO:0001583	missense	199870							g.chr1:28086093G>A	AK098318	CCDS309.1, CCDS44092.1, CCDS44093.1, CCDS44094.1, CCDS44095.1	1p35.3	2008-02-05			ENSG00000009780	ENSG00000009780			28530	protein-coding gene	gene with protein product							Standard	NM_001143912		Approved	MGC34648	uc001bor.3	Q8TAV0	OTTHUMG00000003729	ENST00000373954.6:c.792G>A	1.37:g.28086093G>A	ENSP00000363065:p.Met264Ile					FAM76A_uc009vtb.2_Missense_Mutation_p.M264I|FAM76A_uc001bor.2_Missense_Mutation_p.M298I|FAM76A_uc001bos.2_Missense_Mutation_p.M269I|FAM76A_uc001bot.2_Missense_Mutation_p.M235I|FAM76A_uc010ofm.1_Missense_Mutation_p.M184I	p.M264I	NM_152660	NP_689873	Q8TAV0	FA76A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)	8	894	+		Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966)	264			Potential.		B4DWT3|O95565|O95566|Q8N7J5	Missense_Mutation	SNP	ENST00000373954.6	37	c.792G>A	CCDS309.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.536264	0.65085	.	.	ENSG00000009780	ENST00000373954;ENST00000419687;ENST00000530324;ENST00000234549;ENST00000373949;ENST00000010299;ENST00000446647	T;T	0.31247	1.55;1.5	5.76	5.76	0.90799	.	0.066820	0.64402	D	0.000006	T	0.26376	0.0644	L	0.33189	0.99	0.50313	D	0.999862	B;B;B;B;B;B	0.16166	0.0;0.001;0.0;0.016;0.004;0.001	B;B;B;B;B;B	0.20767	0.001;0.007;0.002;0.031;0.017;0.002	T	0.04191	-1.0970	10	0.20519	T	0.43	-9.7151	17.1134	0.86682	0.0:0.0:1.0:0.0	.	184;264;235;269;298;264	B4DWT3;E9PQL1;Q8TAV0-2;Q8TAV0-4;Q8TAV0-3;Q8TAV0	.;.;.;.;.;FA76A_HUMAN	I	264;184;264;269;235;298;77	ENSP00000234549:M269I;ENSP00000010299:M298I	ENSP00000010299:M298I	M	+	3	0	FAM76A	27958680	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.074000	0.93998	2.715000	0.92844	0.561000	0.74099	ATG		0.413	FAM76A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000010514.3		NM_152660		22	45	0	0	0	0.00333	0	22	45		
LRRC41	10489	broad.mit.edu	37	1	46745288	46745288	+	Splice_Site	SNP	T	T	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr1:46745288T>C	ENST00000343304.6	-	8	2306		c.e8-2		LRRC41_ENST00000472710.1_Splice_Site	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41						protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					AGGTAATCTCTGTCAAGAAAA	0.502																																						uc001cpn.2		NaN																	0				ovary(2)|breast(1)|pancreas(1)	4						c.e8-1		MUF1 protein							72.0	84.0	80.0					1																	46745288		2203	4300	6503	SO:0001630	splice_region_variant	10489							g.chr1:46745288T>C	AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.2021-2A>G	1.37:g.46745288T>C						LRRC41_uc010omb.1_Intron	p.E674_splice	NM_006369	NP_006360	Q15345	LRC41_HUMAN			8	2065	-	Acute lymphoblastic leukemia(166;0.155)							A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Splice_Site	SNP	ENST00000343304.6	37	c.2021_splice	CCDS533.1	.	.	.	.	.	.	.	.	.	.	T	14.20	2.463091	0.43736	.	.	ENSG00000132128	ENST00000343304	.	.	.	4.57	4.57	0.56435	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0933	0.65004	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	LRRC41	46517875	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.943000	0.56621	1.919000	0.55581	0.459000	0.35465	.		0.502	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021438.1		NM_006369	Intron	59	115	0	0	0	0.01441	0	59	115		
MCOLN3	55283	broad.mit.edu	37	1	85498432	85498432	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr1:85498432G>C	ENST00000370589.2	-	6	731	c.679C>G	c.(679-681)Ctg>Gtg	p.L227V	MCOLN3_ENST00000341115.4_Missense_Mutation_p.L171V|WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000370587.1_Missense_Mutation_p.L227V	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	227					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		ACTGTCTGCAGATTAATGGCT	0.408																																						uc001dkp.2		NaN																	0				skin(1)	1						c.(679-681)CTG>GTG		mucolipin 3							170.0	162.0	164.0					1																	85498432		2203	4300	6503	SO:0001583	missense	55283					integral to membrane	ion channel activity	g.chr1:85498432G>C	AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.679C>G	1.37:g.85498432G>C	ENSP00000359621:p.Leu227Val					MCOLN3_uc001dkq.2_Missense_Mutation_p.L171V|MCOLN3_uc001dkr.2_Missense_Mutation_p.L227V|MCOLN3_uc001dks.3_Missense_Mutation_p.L72V	p.L227V	NM_018298	NP_060768	Q8TDD5	MCLN3_HUMAN		all cancers(265;0.00957)|Epithelial(280;0.0254)	6	772	-			227					Q5T4H5|Q5T4H6|Q9NV09	Missense_Mutation	SNP	ENST00000370589.2	37	c.679C>G	CCDS701.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.903387	0.72754	.	.	ENSG00000055732	ENST00000370589;ENST00000302814;ENST00000370588;ENST00000341115;ENST00000370587	D;D;D	0.87571	-2.27;-2.27;-2.27	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.93549	0.7941	M	0.84585	2.705	0.43054	D	0.994668	D;D;D;D	0.76494	0.998;0.999;0.996;0.994	P;D;P;P	0.70227	0.882;0.968;0.833;0.685	D	0.93918	0.7203	10	0.66056	D	0.02	-21.96	19.3185	0.94226	0.0:0.0:1.0:0.0	.	227;227;171;227	A8K841;B1ANB7;Q8TDD5-2;Q8TDD5	.;.;.;MCLN3_HUMAN	V	227;227;171;171;227	ENSP00000359621:L227V;ENSP00000342698:L171V;ENSP00000359619:L227V	ENSP00000304843:L227V	L	-	1	2	MCOLN3	85271020	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	3.334000	0.52097	2.558000	0.86282	0.555000	0.69702	CTG		0.408	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027569.2		NM_018298		104	75	0	0	0	0.01441	0	104	75		
DBT	1629	broad.mit.edu	37	1	100701034	100701034	+	Nonsense_Mutation	SNP	G	G	C	rs398123664		TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr1:100701034G>C	ENST00000370132.4	-	3	222	c.209C>G	c.(208-210)tCa>tGa	p.S70*	DBT_ENST00000370131.3_Nonsense_Mutation_p.S70*	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	70	Lipoyl-binding. {ECO:0000255|PROSITE- ProRule:PRU01066}.				branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity (GO:0043754)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		TCCAATGTCTGAGAGCTTGAA	0.299																																						uc001dta.2		NaN																	0				pancreas(1)	1						c.(208-210)TCA>TGA		dihydrolipoamide branched chain transacylase							69.0	71.0	70.0					1																	100701034		2203	4297	6500	SO:0001587	stop_gained	1629				branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding	g.chr1:100701034G>C	BC016675	CCDS767.1	1p31	2008-02-05	2004-11-15		ENSG00000137992	ENSG00000137992			2698	protein-coding gene	gene with protein product		248610	"""dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex; maple syrup urine disease)"""			1420314, 1429740	Standard	NM_001918		Approved		uc001dta.3	P11182	OTTHUMG00000010921	ENST00000370132.4:c.209C>G	1.37:g.100701034G>C	ENSP00000359151:p.Ser70*					DBT_uc010oug.1_5'UTR	p.S70*	NM_001918	NP_001909	P11182	ODB2_HUMAN		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)	3	242	-		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	70			Lipoyl-binding.		B2R811|Q5VVL8	Nonsense_Mutation	SNP	ENST00000370132.4	37	c.209C>G	CCDS767.1	.	.	.	.	.	.	.	.	.	.	G	32	5.189757	0.94923	.	.	ENSG00000137992	ENST00000370132;ENST00000370131	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-16.299	20.0205	0.97499	0.0:0.0:1.0:0.0	.	.	.	.	X	70	.	ENSP00000359150:S70X	S	-	2	0	DBT	100473622	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	8.543000	0.90651	2.801000	0.96364	0.650000	0.86243	TCA		0.299	DBT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030101.2		NM_001918		41	87	0	0	0	0.01441	0	41	87		
OLFM3	118427	broad.mit.edu	37	1	102462345	102462345	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr1:102462345G>C	ENST00000370103.4	-	1	241	c.28C>G	c.(28-30)Ctc>Gtc	p.L10V	OLFM3_ENST00000462354.1_5'UTR	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	24					eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		AGCAGCAGGAGGTTGAGAAGG	0.433																																						uc001dug.2		NaN																	0				ovary(2)|skin(1)	3						c.(28-30)CTC>GTC		olfactomedin 3							156.0	159.0	158.0					1																	102462345		2203	4300	6503	SO:0001583	missense	118427					extracellular region		g.chr1:102462345G>C	AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"""optimedin"""	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000370103.4:c.28C>G	1.37:g.102462345G>C	ENSP00000359121:p.Leu10Val					OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_5'UTR	p.L10V	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)	1	446	-		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Missense_Mutation	SNP	ENST00000370103.4	37	c.28C>G	CCDS30781.1	.	.	.	.	.	.	.	.	.	.	G	8.690	0.907184	0.17833	.	.	ENSG00000118733	ENST00000370103	D	0.87491	-2.26	6.07	5.16	0.70880	.	.	.	.	.	D	0.82296	0.5006	L	0.36672	1.1	0.80722	D	1	P	0.40332	0.713	P	0.54210	0.745	T	0.80876	-0.1186	9	0.11794	T	0.64	.	15.423	0.75028	0.0:0.1386:0.8614:0.0	.	10	Q5T3V6	.	V	10	ENSP00000359121:L10V	ENSP00000359121:L10V	L	-	1	0	OLFM3	102234933	1.000000	0.71417	0.995000	0.50966	0.700000	0.40528	5.788000	0.69020	1.561000	0.49584	-0.175000	0.13238	CTC		0.433	OLFM3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030144.1				34	67	0	0	0	0.005524	0	34	67		
TRIM46	80128	broad.mit.edu	37	1	155154488	155154488	+	Silent	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr1:155154488C>T	ENST00000334634.4	+	9	1749	c.1749C>T	c.(1747-1749)ggC>ggT	p.G583G	TRIM46_ENST00000392451.2_3'UTR|TRIM46_ENST00000543729.1_3'UTR|TRIM46_ENST00000368383.3_Silent_p.G583G|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000545012.1_Silent_p.G457G|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000368382.1_Silent_p.G560G	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	583	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGGTCCTGGGCGACGTGGCTG	0.667																																						uc001fhs.1		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1747-1749)GGC>GGT		tripartite motif-containing 46							23.0	23.0	23.0					1																	155154488		2203	4299	6502	SO:0001819	synonymous_variant	80128					intracellular	zinc ion binding	g.chr1:155154488C>T		CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19019	protein-coding gene	gene with protein product		600986	"""tripartite motif-containing 46"""				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.1749C>T	1.37:g.155154488C>T						RAG1AP1_uc010pey.1_Intron|TRIM46_uc009wpe.1_RNA|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_Silent_p.G457G|TRIM46_uc001fhu.1_Silent_p.G560G|TRIM46_uc009wpg.1_Silent_p.G570G|TRIM46_uc001fhw.1_RNA	p.G583G	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		9	1832	+	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		583			B30.2/SPRY.		A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Silent	SNP	ENST00000334634.4	37	c.1749C>T	CCDS1097.1																																																																																				0.667	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1		NM_025058		14	25	0	0	0	0.001855	0	14	25		
SCAMP3	10067	broad.mit.edu	37	1	155230165	155230165	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr1:155230165C>T	ENST00000302631.3	-	4	451	c.344G>A	c.(343-345)cGa>cAa	p.R115Q	CLK2_ENST00000497188.1_5'Flank|SCAMP3_ENST00000355379.3_Missense_Mutation_p.R89Q|SCAMP3_ENST00000472397.1_5'UTR	NM_005698.3	NP_005689.2	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	115					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|response to retinoic acid (GO:0032526)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCGCTCCCTTCGGTCCAACTC	0.582																																						uc001fjs.2		NaN																	0				ovary(3)	3						c.(343-345)CGA>CAA		secretory carrier membrane protein 3 isoform 1							95.0	85.0	89.0					1																	155230165		2203	4300	6503	SO:0001583	missense	10067				post-Golgi vesicle-mediated transport|protein transport	integral to membrane		g.chr1:155230165C>T	AF005039	CCDS1105.1, CCDS1106.1	1q21	2013-02-21			ENSG00000116521	ENSG00000116521		"""Secretory carrier membrane proteins"""	10565	protein-coding gene	gene with protein product	"""Propin 1"""	606913		C1orf3		9331372, 9658162	Standard	NM_005698		Approved		uc001fjs.3	O14828	OTTHUMG00000035874	ENST00000302631.3:c.344G>A	1.37:g.155230165C>T	ENSP00000307275:p.Arg115Gln					RAG1AP1_uc010pey.1_Intron|SCAMP3_uc001fjr.2_5'UTR|SCAMP3_uc001fju.2_Missense_Mutation_p.R115Q|SCAMP3_uc001fjv.2_Missense_Mutation_p.R115Q|SCAMP3_uc001fjt.2_Missense_Mutation_p.R89Q	p.R115Q	NM_005698	NP_005689	O14828	SCAM3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		4	597	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		115			Cytoplasmic (Potential).		A9Z1W6|B1AVS6|O15128|Q96FR8|Q9BPY0	Missense_Mutation	SNP	ENST00000302631.3	37	c.344G>A	CCDS1105.1	.	.	.	.	.	.	.	.	.	.	.	33	5.288311	0.95517	.	.	ENSG00000116521	ENST00000302631;ENST00000355379	T;T	0.22336	2.21;1.96	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.30510	0.0767	M	0.67397	2.05	0.58432	D	0.999999	D;D;D	0.65815	0.995;0.985;0.993	P;P;B	0.58266	0.83;0.836;0.435	T	0.07597	-1.0764	10	0.87932	D	0	-10.4556	14.7659	0.69640	0.0:1.0:0.0:0.0	.	115;89;115	Q6FHJ5;O14828-2;O14828	.;.;SCAM3_HUMAN	Q	115;89	ENSP00000307275:R115Q;ENSP00000347540:R89Q	ENSP00000307275:R115Q	R	-	2	0	SCAMP3	153496789	0.997000	0.39634	0.959000	0.39883	0.785000	0.44390	4.188000	0.58351	2.334000	0.79466	0.650000	0.86243	CGA		0.582	SCAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087399.1		NM_005698		59	94	0	0	0	0.01441	0	59	94		
ARHGEF2	9181	broad.mit.edu	37	1	155922418	155922418	+	Splice_Site	SNP	C	C	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr1:155922418C>A	ENST00000361247.4	-	15	2084		c.e15+1		ARHGEF2_ENST00000313667.4_Splice_Site|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000462460.2_Splice_Site|ARHGEF2_ENST00000368316.1_Splice_Site|ARHGEF2_ENST00000313695.7_Splice_Site|ARHGEF2_ENST00000368315.4_Splice_Site	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2						actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGCTCCCTCACCCTCACGGAT	0.607																																					Melanoma(178;35 2768 6610 28839)	uc001fmt.2		NaN																	0				ovary(1)	1						c.e15+1		Rho/Rac guanine nucleotide exchange factor 2							36.0	38.0	37.0					1																	155922418		2203	4300	6503	SO:0001630	splice_region_variant	9181				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding	g.chr1:155922418C>A	AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	682	protein-coding gene	gene with protein product		607560	"""rho/rac guanine nucleotide exchange factor (GEF) 2"""			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.1984+1G>T	1.37:g.155922418C>A						ARHGEF2_uc001fmq.2_5'Flank|ARHGEF2_uc001fmr.2_Splice_Site_p.V634_splice|ARHGEF2_uc001fms.2_Splice_Site_p.V661_splice|ARHGEF2_uc001fmu.2_Splice_Site_p.V706_splice	p.V662_splice	NM_001162383	NP_001155855	Q92974	ARHG2_HUMAN			15	2102	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)							D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Splice_Site	SNP	ENST00000361247.4	37	c.1984_splice	CCDS53376.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.523831	0.85600	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000313667	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4857	0.84183	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARHGEF2	154189042	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.458000	0.73509	2.828000	0.97474	0.655000	0.94253	.		0.607	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2		NM_004723	Intron	30	49	1	0	2.46105e-21	0.010818	2.69399e-21	30	49		
ASTN1	460	broad.mit.edu	37	1	176833476	176833476	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr1:176833476C>T	ENST00000367654.3	-	23	4064	c.3853G>A	c.(3853-3855)Gag>Aag	p.E1285K	ASTN1_ENST00000367657.3_Intron|ASTN1_ENST00000361833.2_Missense_Mutation_p.E1277K	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1285					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GTCTGCTCCTCACACGTCTTC	0.577																																						uc001glc.2		NaN																	0				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(3829-3831)GAG>AAG		astrotactin isoform 1							128.0	123.0	125.0					1																	176833476		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176833476C>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3853G>A	1.37:g.176833476C>T	ENSP00000356626:p.Glu1285Lys					ASTN1_uc001glb.1_Intron	p.E1277K	NM_004319	NP_004310	O14525	ASTN1_HUMAN			23	4041	-			1285					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.3829G>A		.	.	.	.	.	.	.	.	.	.	C	24.9	4.582747	0.86748	.	.	ENSG00000152092	ENST00000361833;ENST00000367654	T;T	0.10382	2.88;2.88	4.61	4.61	0.57282	.	0.047999	0.85682	D	0.000000	T	0.09335	0.0230	L	0.29908	0.895	0.80722	D	1	P	0.40731	0.728	B	0.32980	0.156	T	0.13098	-1.0522	10	0.87932	D	0	-22.8629	17.4153	0.87498	0.0:1.0:0.0:0.0	.	1277	O14525-2	.	K	1277;1285	ENSP00000354536:E1277K;ENSP00000356626:E1285K	ENSP00000354536:E1277K	E	-	1	0	ASTN1	175100099	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	7.037000	0.76531	2.282000	0.76494	0.555000	0.69702	GAG		0.577	ASTN1-201	KNOWN	basic	protein_coding	protein_coding			NM_004319		74	102	0	0	0	0.01441	0	74	102		
CFHR5	81494	broad.mit.edu	37	1	196965186	196965186	+	Silent	SNP	C	C	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr1:196965186C>A	ENST00000256785.4	+	6	934	c.825C>A	c.(823-825)ctC>ctA	p.L275L	CFHR5_ENST00000367414.5_Silent_p.L299L			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	275	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TACCTGAACTCGAGTACGGTT	0.348																																						uc001gts.3		NaN																	0				breast(1)|skin(1)	2						c.(823-825)CTC>CTA		complement factor H-related 5 precursor							133.0	127.0	129.0					1																	196965186		2203	4300	6503	SO:0001819	synonymous_variant	81494				complement activation, alternative pathway	extracellular region		g.chr1:196965186C>A	AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"""Complement system"""	24668	protein-coding gene	gene with protein product	"""factor H related protein 5"""	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.825C>A	1.37:g.196965186C>A							p.L275L	NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN			6	953	+			275			Sushi 5.		Q2NKK2	Silent	SNP	ENST00000256785.4	37	c.825C>A	CCDS1387.1																																																																																				0.348	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2		NM_030787		59	108	1	0	7.82978e-24	0.01441	8.642e-24	59	108		
CYB5R1	51706	broad.mit.edu	37	1	202936373	202936373	+	De_novo_Start_InFrame	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr1:202936373G>C	ENST00000367249.4	-	0	35				CYB5R1_ENST00000497655.1_5'Flank	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1						sterol biosynthetic process (GO:0016126)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)		Flavin adenine dinucleotide(DB03147)	CAAGCCGACAGATCCCACAAT	0.716																																						uc001gyt.2		NaN																	0				ovary(1)	1						c.(-41--37)ATCTG>ATGTG		cytochrome b5 reductase 1							21.0	19.0	20.0					1																	202936373		2202	4300	6502			51706				sterol biosynthetic process	integral to membrane	cytochrome-b5 reductase activity	g.chr1:202936373G>C	AF169481	CCDS1431.1	1q32.1	2011-04-08		2005-07-13	ENSG00000159348	ENSG00000159348	1.6.2.2		13397	protein-coding gene	gene with protein product		608341	"""NAD(P)H:quinone oxidoreductase type 3, polypeptide A2"""	NQO3A2		12975309, 10611283	Standard	NM_016243		Approved	humb5R2	uc001gyt.2	Q9UHQ9	OTTHUMG00000041387		1.37:g.202936373G>C						CYB5R1_uc010pqe.1_RNA		NM_016243	NP_057327	Q9UHQ9	NB5R1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.141)		1	32	-								A0PK21|B2R8E0|O95329|Q53F73|Q8NCL5|Q9UHJ1	Translation_Start_Site	SNP	ENST00000367249.4	37	c.-39C>G	CCDS1431.1																																																																																				0.716	CYB5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099155.1		NM_016243		10	20	0	0	0	0.00245	0	10	20		
LYST	1130	broad.mit.edu	37	1	235973532	235973532	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr1:235973532G>T	ENST00000389794.3	-	5	760	c.586C>A	c.(586-588)Cct>Act	p.P196T	LYST_ENST00000389793.2_Missense_Mutation_p.P196T|LYST_ENST00000536965.1_Missense_Mutation_p.P196T			Q99698	LYST_HUMAN	lysosomal trafficking regulator	196					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TCTTGTTTAGGAAACGATGTT	0.428																																						uc001hxj.2		NaN																	0				ovary(6)|breast(4)|central_nervous_system(2)	12						c.(586-588)CCT>ACT		lysosomal trafficking regulator							192.0	187.0	189.0					1																	235973532		2203	4300	6503	SO:0001583	missense	1130	Chediak-Higashi_syndrome			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235973532G>T	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.586C>A	1.37:g.235973532G>T	ENSP00000374444:p.Pro196Thr					LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Missense_Mutation_p.P196T	p.P196T	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		5	761	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	196					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.586C>A	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	G	9.852	1.194017	0.22037	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.13196	2.61;2.61;2.61	5.75	0.408	0.16377	.	1.979650	0.01750	N	0.029881	T	0.17577	0.0422	L	0.54323	1.7	0.25242	N	0.989749	P;B	0.36789	0.57;0.154	B;B	0.39217	0.294;0.05	T	0.23762	-1.0179	10	0.48119	T	0.1	.	6.3253	0.21240	0.3807:0.1252:0.4941:0.0	.	196;196	Q99698-3;Q99698	.;LYST_HUMAN	T	196	ENSP00000374444:P196T;ENSP00000374443:P196T;ENSP00000438315:P196T	ENSP00000374443:P196T	P	-	1	0	LYST	234040155	0.981000	0.34729	0.760000	0.31359	0.934000	0.57294	0.293000	0.19029	0.046000	0.15833	0.655000	0.94253	CCT		0.428	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5				87	162	1	0	9.11151e-29	0.01441	1.01408e-28	87	162		
KIAA1279	26128	broad.mit.edu	37	10	70765492	70765492	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr10:70765492G>C	ENST00000361983.4	+	4	712	c.610G>C	c.(610-612)Gaa>Caa	p.E204Q		NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	204					cell differentiation (GO:0030154)|mitochondrial transport (GO:0006839)|nervous system development (GO:0007399)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)	kinesin binding (GO:0019894)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						TTACAGATTTGAAAAGGTTTA	0.368																																						uc001joy.2		NaN																	0				ovary(1)	1						c.(610-612)GAA>CAA		KIF1 binding protein							49.0	49.0	49.0					10																	70765492		2203	4300	6503	SO:0001583	missense	26128				cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding	g.chr10:70765492G>C	BC012180	CCDS7284.1	10q22.1	2008-02-05			ENSG00000198954	ENSG00000198954			23419	protein-coding gene	gene with protein product		609367					Standard	NM_015634		Approved	DKFZP586B0923, TTC20	uc001joy.3	Q96EK5	OTTHUMG00000018363	ENST00000361983.4:c.610G>C	10.37:g.70765492G>C	ENSP00000354848:p.Glu204Gln						p.E204Q	NM_015634	NP_056449	Q96EK5	KBP_HUMAN			4	706	+			204					A8K5M8|Q9BR89|Q9ULE1|Q9Y428	Missense_Mutation	SNP	ENST00000361983.4	37	c.610G>C	CCDS7284.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.317686	0.81469	.	.	ENSG00000198954	ENST00000361983	T	0.42131	0.98	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.65144	0.2663	M	0.69358	2.11	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.60692	-0.7213	10	0.39692	T	0.17	-12.2958	19.9997	0.97405	0.0:0.0:1.0:0.0	.	204	Q96EK5	KBP_HUMAN	Q	204	ENSP00000354848:E204Q	ENSP00000354848:E204Q	E	+	1	0	KIAA1279	70435498	1.000000	0.71417	1.000000	0.80357	0.597000	0.36814	9.376000	0.97181	2.717000	0.92951	0.585000	0.79938	GAA		0.368	KIAA1279-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048370.1		NM_015634		17	29	0	0	0	0.00499	0	17	29		
PPP3CB	5532	broad.mit.edu	37	10	75239146	75239146	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr10:75239146C>T	ENST00000360663.5	-	2	326	c.215G>A	c.(214-216)aGa>aAa	p.R72K	PPP3CB_ENST00000394822.2_Missense_Mutation_p.R72K|PPP3CB_ENST00000545874.1_5'UTR|PPP3CB_ENST00000394828.2_Missense_Mutation_p.R72K|PPP3CB_ENST00000394829.2_Missense_Mutation_p.R72K|PPP3CB_ENST00000342558.3_Missense_Mutation_p.R72K			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme	72	Catalytic.				axon extension (GO:0048675)|calcium ion-dependent exocytosis (GO:0017156)|cellular response to drug (GO:0035690)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|innate immune response (GO:0045087)|learning (GO:0007612)|locomotion involved in locomotory behavior (GO:0031987)|memory (GO:0007613)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of transcription, DNA-templated (GO:0045893)|protein dephosphorylation (GO:0006470)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)|social behavior (GO:0035176)|T cell activation (GO:0042110)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	calcineurin complex (GO:0005955)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein phosphatase 2B binding (GO:0030346)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					ATTGATAATTCTAAGCGCAAT	0.403																																						uc001jue.2		NaN																	0				skin(1)	1						c.(214-216)AGA>AAA		protein phosphatase 3, catalytic subunit, beta							217.0	208.0	211.0					10																	75239146		2203	4300	6503	SO:0001583	missense	5532							g.chr10:75239146C>T	M29551	CCDS7328.1, CCDS44436.1, CCDS44437.1	10q22.2	2010-03-17	2010-03-05		ENSG00000107758	ENSG00000107758	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9315	protein-coding gene	gene with protein product	"""calcineurin A beta"", ""protein phosphatase 2B, catalytic subunit, beta isoform"""	114106	"""protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform (calcineurin A beta)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform"""	CALNB		1659808, 2558868	Standard	XM_005269944		Approved	CALNA2, CNA2, PP2Bbeta	uc001juf.3	P16298	OTTHUMG00000018472	ENST00000360663.5:c.215G>A	10.37:g.75239146C>T	ENSP00000353881:p.Arg72Lys					PPP3CB_uc001juf.2_Missense_Mutation_p.R72K|PPP3CB_uc001jug.2_Missense_Mutation_p.R72K|PPP3CB_uc001jui.2_Missense_Mutation_p.R72K|PPP3CB_uc001juh.2_5'UTR	p.R72K	NM_021132	NP_066955	P16298	PP2BB_HUMAN			2	350	-	Prostate(51;0.0119)		72			Catalytic.		P16299|Q5F2F9|Q8N1F0|Q8N3W4	Missense_Mutation	SNP	ENST00000360663.5	37	c.215G>A	CCDS7328.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.855575	0.32791	.	.	ENSG00000107758	ENST00000360663;ENST00000394829;ENST00000394828;ENST00000342558;ENST00000394822	T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05	5.61	5.61	0.85477	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);	0.000000	0.64402	D	0.000003	T	0.49474	0.1559	L	0.33093	0.98	0.80722	D	1	B;B;B;B	0.06786	0.0;0.001;0.001;0.0	B;B;B;B	0.09377	0.004;0.003;0.003;0.001	T	0.40869	-0.9540	10	0.15952	T	0.53	.	13.8827	0.63691	0.0:0.9275:0.0:0.0725	.	72;72;72;72	P16298-2;P16298-3;Q8N1F0;P16298	.;.;.;PP2BB_HUMAN	K	72	ENSP00000353881:R72K;ENSP00000378306:R72K;ENSP00000378305:R72K;ENSP00000343147:R72K;ENSP00000378299:R72K	ENSP00000343147:R72K	R	-	2	0	PPP3CB	74909152	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	2.128000	0.42045	2.661000	0.90470	0.655000	0.94253	AGA		0.403	PPP3CB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048669.1		NM_021132		115	226	0	0	0	0.01441	0	115	226		
COMTD1	118881	broad.mit.edu	37	10	76993951	76993951	+	Silent	SNP	C	C	T	rs372269148		TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr10:76993951C>T	ENST00000372538.3	-	7	751	c.669G>A	c.(667-669)ccG>ccA	p.P223P	COMTD1_ENST00000460899.1_5'UTR	NM_144589.2	NP_653190.2	Q86VU5	CMTD1_HUMAN	catechol-O-methyltransferase domain containing 1	223						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	O-methyltransferase activity (GO:0008171)			central_nervous_system(1)|large_intestine(1)|lung(1)	3	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)					CGTCCCCTTTCGGAGGTTGCA	0.697																																					Colon(106;1192 2596 47278)	uc001jxb.2		NaN																	0					0						c.(667-669)CCG>CCA		catechol-O-methyltransferase domain containing							51.0	46.0	48.0					10																	76993951		2203	4300	6503	SO:0001819	synonymous_variant	118881					integral to membrane	O-methyltransferase activity	g.chr10:76993951C>T		CCDS7349.1	10q22.2	2013-09-20			ENSG00000165644	ENSG00000165644			26309	protein-coding gene	gene with protein product						12975309	Standard	NM_144589		Approved	FLJ23841	uc001jxb.3	Q86VU5	OTTHUMG00000018518	ENST00000372538.3:c.669G>A	10.37:g.76993951C>T						COMTD1_uc001jxc.1_Missense_Mutation_p.E315K	p.P223P	NM_144589	NP_653190	Q86VU5	CMTD1_HUMAN			7	753	-	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)		223					Q8TE79	Silent	SNP	ENST00000372538.3	37	c.669G>A	CCDS7349.1	.	.	.	.	.	.	.	.	.	.	C	7.862	0.726359	0.15439	.	.	ENSG00000165644	ENST00000536650	.	.	.	4.96	0.849	0.18972	.	.	.	.	.	T	0.42086	0.1187	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	T	0.37820	-0.9689	5	0.72032	D	0.01	-3.3118	7.9673	0.30107	0.0:0.6615:0.0:0.3385	.	.	.	.	K	212	.	ENSP00000444168:E212K	E	-	1	0	COMTD1	76663957	0.000000	0.05858	0.001000	0.08648	0.041000	0.13682	-0.354000	0.07681	-0.123000	0.11745	-0.291000	0.09656	GAA		0.697	COMTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048802.1		NM_144589		26	54	0	0	0	0.010818	0	26	54		
SLC18A2	6571	broad.mit.edu	37	10	119013596	119013596	+	Silent	SNP	T	T	C	rs11568720		TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr10:119013596T>C	ENST00000298472.5	+	5	704	c.561T>C	c.(559-561)atT>atC	p.I187I	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	187					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	TCCTGCTGATTGCCAGGTCGC	0.607																																						uc001ldd.1		NaN																	0					0						c.(559-561)ATT>ATC		solute carrier family 18 (vesicular monoamine),	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)						143.0	126.0	132.0					10																	119013596		2203	4300	6503	SO:0001819	synonymous_variant	6571				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity	g.chr10:119013596T>C	L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"""Solute carriers"""	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.561T>C	10.37:g.119013596T>C						SLC18A2_uc009xyy.1_5'UTR	p.I187I	NM_003054	NP_003045	Q05940	VMAT2_HUMAN		all cancers(201;0.029)	5	592	+		Colorectal(252;0.19)	187			Lumenal, vesicle (Potential).		B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Silent	SNP	ENST00000298472.5	37	c.561T>C	CCDS7599.1																																																																																				0.607	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050563.1		NM_003054		70	138	0	0	0	0.01441	0	70	138		
NUP98	4928	broad.mit.edu	37	11	3704662	3704662	+	Silent	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr11:3704662C>T	ENST00000324932.7	-	30	5106	c.4686G>A	c.(4684-4686)gaG>gaA	p.E1562E	NUP98_ENST00000355260.3_Silent_p.E1488E|NUP98_ENST00000359171.4_Silent_p.E1488E	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1579					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		GAACAGCCTTCTCACGTATGC	0.537			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																	uc001lyh.2		NaN		Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11		AML		0				breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12						c.(4684-4686)GAG>GAA		nucleoporin 98kD isoform 1							68.0	68.0	68.0					11																	3704662		2201	4298	6499	SO:0001819	synonymous_variant	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3704662C>T	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.4686G>A	11.37:g.3704662C>T						NUP98_uc001lyi.2_Silent_p.E1488E|NUP98_uc001lyg.2_Silent_p.E527E	p.E1562E	NM_016320	NP_057404	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	30	4977	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	1579					Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Silent	SNP	ENST00000324932.7	37	c.4686G>A	CCDS7746.1	.	.	.	.	.	.	.	.	.	.	C	10.78	1.445670	0.25987	.	.	ENSG00000110713	ENST00000429801	.	.	.	5.87	3.04	0.35103	.	0.000000	0.85682	D	0.000000	T	0.61664	0.2365	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58081	-0.7699	6	0.46703	T	0.11	-17.1527	8.6133	0.33815	0.0:0.7113:0.0:0.2887	.	.	.	.	K	515	.	ENSP00000413146:E515K	E	-	1	0	NUP98	3661238	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	1.600000	0.36762	0.424000	0.26061	-0.145000	0.13849	GAA		0.537	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3		NM_016320		34	17	0	0	0	0.005524	0	34	17		
SBF2	81846	broad.mit.edu	37	11	10022460	10022460	+	Splice_Site	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr11:10022460C>T	ENST00000256190.8	-	8	999		c.e8+1		SBF2_ENST00000527019.1_Splice_Site	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2						cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TGAATACTTACAAGTTCATGG	0.363																																						uc001mib.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.e8+1		SET binding factor 2							49.0	48.0	49.0					11																	10022460		2201	4292	6493	SO:0001630	splice_region_variant	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:10022460C>T	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.861+1G>A	11.37:g.10022460C>T						SBF2_uc001mif.3_Splice_Site_p.L43_splice	p.L287_splice	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	8	999	-								Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Splice_Site	SNP	ENST00000256190.8	37	c.861_splice	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.735733	0.89482	.	.	ENSG00000133812	ENST00000256190	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5687	0.95404	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SBF2	9979036	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.476000	0.81055	2.606000	0.88127	0.655000	0.94253	.		0.363	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2		NM_030962	Intron	24	13	0	0	0	0.00333	0	24	13		
OR4A15	81328	broad.mit.edu	37	11	55136137	55136137	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr11:55136137G>A	ENST00000314706.3	+	1	778	c.778G>A	c.(778-780)Ggg>Agg	p.G260R		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GAGTTTGGAAGGGAAACGAAA	0.428																																						uc010rif.1		NaN																	0				ovary(1)|skin(1)	2						c.(778-780)GGG>AGG		olfactory receptor, family 4, subfamily A,							187.0	164.0	171.0					11																	55136137		2201	4296	6497	SO:0001583	missense	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55136137G>A	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.778G>A	11.37:g.55136137G>A	ENSP00000325065:p.Gly260Arg						p.G260R	NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN			1	778	+			260			Cytoplasmic (Potential).		Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	37	c.778G>A	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	-	15.72	2.915589	0.52546	.	.	ENSG00000181958	ENST00000314706	T	0.00295	8.25	3.65	1.62	0.23740	GPCR, rhodopsin-like superfamily (1);	0.393988	0.21765	N	0.069441	T	0.00384	0.0012	M	0.85945	2.785	0.09310	N	1	P	0.36712	0.566	B	0.44163	0.443	T	0.19647	-1.0299	10	0.72032	D	0.01	.	7.0004	0.24807	0.108:0.1765:0.7155:0.0	.	260	Q8NGL6	O4A15_HUMAN	R	260	ENSP00000325065:G260R	ENSP00000325065:G260R	G	+	1	0	OR4A15	54892713	0.000000	0.05858	0.028000	0.17463	0.377000	0.30045	0.640000	0.24705	0.717000	0.32145	0.492000	0.49549	GGG		0.428	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1		NM_001005275		89	106	0	0	0	0.01441	0	89	106		
OR9G1	390174	broad.mit.edu	37	11	56468004	56468004	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr11:56468004G>T	ENST00000312153.1	+	1	141	c.141G>T	c.(139-141)ttG>ttT	p.L47F		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	47						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L47F(1)		breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						TCATCGTGTTGATCTGTAATG	0.502																																						uc010rjn.1		NaN																	1	Substitution - Missense(1)		lung(1)		0						c.(139-141)TTG>TTT		olfactory receptor, family 9, subfamily G,							184.0	162.0	169.0					11																	56468004		2201	4296	6497	SO:0001583	missense	504191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56468004G>T	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"""GPCR / Class A : Olfactory receptors"""	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.141G>T	11.37:g.56468004G>T	ENSP00000309012:p.Leu47Phe						p.L47F	NM_001013358	NP_001013376	P0C7N8	OR9G9_HUMAN			1	141	+			47			Helical; Name=1; (Potential).		Q6IEU9|Q8NGQ0	Missense_Mutation	SNP	ENST00000312153.1	37	c.141G>T	CCDS31536.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.609823	0.46527	.	.	ENSG00000174914	ENST00000312153	T	0.03035	4.07	4.52	0.361	0.16107	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42053	D	0.000769	T	0.16385	0.0394	M	0.89968	3.075	0.28645	N	0.906958	D	0.89917	1.0	D	0.91635	0.999	T	0.02398	-1.1165	10	0.87932	D	0	-12.9828	5.0596	0.14550	0.2437:0.3133:0.443:0.0	.	47	Q8NH87	OR9G1_HUMAN	F	47	ENSP00000309012:L47F	ENSP00000309012:L47F	L	+	3	2	OR9G1	56224580	0.000000	0.05858	0.822000	0.32727	0.691000	0.40173	-2.223000	0.01214	0.203000	0.20529	0.573000	0.79308	TTG		0.502	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1		NM_001005213		18	99	1	0	3.73148e-12	0.007291	3.95447e-12	18	99		
SLC22A8	9376	broad.mit.edu	37	11	62763286	62763286	+	Silent	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr11:62763286G>C	ENST00000336232.2	-	7	1026	c.891C>G	c.(889-891)ctC>ctG	p.L297L	SLC22A8_ENST00000542795.1_5'Flank|SLC22A8_ENST00000430500.2_Silent_p.L297L|SLC22A8_ENST00000311438.8_Silent_p.L297L|SLC22A8_ENST00000545207.1_Silent_p.L206L|SLC22A8_ENST00000535878.1_Silent_p.L174L	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	297					glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	GGTTGAGTTTGAGCTCCTTCG	0.582																																						uc001nwo.2		NaN																	0				skin(2)|ovary(1)	3						c.(889-891)CTC>CTG		solute carrier family 22 member 8							116.0	110.0	112.0					11																	62763286		2201	4298	6499	SO:0001819	synonymous_variant	9376				response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity	g.chr11:62763286G>C	AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"""Solute carriers"""	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.891C>G	11.37:g.62763286G>C						SLC22A8_uc001nwn.1_3'UTR|SLC22A8_uc001nwp.2_Silent_p.L297L|SLC22A8_uc009yom.2_Silent_p.L174L|SLC22A8_uc010rmm.1_Silent_p.L206L|SLC22A8_uc009yon.2_Silent_p.L297L	p.L297L	NM_004254	NP_004245	Q8TCC7	S22A8_HUMAN			7	1027	-			297			Cytoplasmic (Potential).		B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Silent	SNP	ENST00000336232.2	37	c.891C>G	CCDS8042.1																																																																																				0.582	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396191.1		NM_004254		60	98	0	0	0	0.01441	0	60	98		
MEN1	4221	broad.mit.edu	37	11	64571830	64571830	+	Silent	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr11:64571830G>C	ENST00000337652.1	-	10	2327	c.1824C>G	c.(1822-1824)ctC>ctG	p.L608L	MEN1_ENST00000443283.1_Silent_p.L608L|MEN1_ENST00000394374.2_Silent_p.L608L|MEN1_ENST00000377321.1_Silent_p.L568L|MEN1_ENST00000377326.3_Silent_p.L603L|MEN1_ENST00000377316.2_Silent_p.L548L|MAP4K2_ENST00000468062.1_5'Flank|MEN1_ENST00000478548.1_5'Flank|MEN1_ENST00000312049.6_Silent_p.L603L|MEN1_ENST00000377313.1_Silent_p.L608L|MEN1_ENST00000315422.4_Silent_p.L603L|MEN1_ENST00000394376.1_Silent_p.L608L|MAP4K2_ENST00000377350.3_5'Flank|MAP4K2_ENST00000294066.2_5'Flank	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	608					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						GCTGCCGCTTGAGGAAAGACA	0.577			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)	uc001obj.2		NaN	yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	D|Mis|N|F|S	multiple endocrine neoplasia type 1 gene			E		parathyroid adenoma|pituitary adenoma|pancreatic islet cell|carcinoid	parathyroid tumors|Pancreatic neuroendocrine tumors		0				parathyroid(105)|pancreas(64)|gastrointestinal_tract_(site_indeterminate)(15)|small_intestine(13)|lung(9)|pituitary(7)|NS(7)|adrenal_gland(5)|soft_tissue(4)|central_nervous_system(4)|thymus(2)|stomach(1)|retroperitoneum(1)|skin(1)	238						c.(1822-1824)CTC>CTG		menin isoform 1							169.0	162.0	164.0					11																	64571830		2201	4297	6498	SO:0001819	synonymous_variant	4221	Hyperparathyroidism_Familial_Isolated|Multiple_Endocrine_Neoplasia_type_1	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	g.chr11:64571830G>C	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"""menin"""	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.1824C>G	11.37:g.64571830G>C						MAP4K2_uc001obh.2_5'Flank|MAP4K2_uc001obi.2_5'Flank|MAP4K2_uc010rnp.1_5'Flank|MEN1_uc001obk.2_Silent_p.L608L|MEN1_uc001obl.2_Silent_p.L568L|MEN1_uc001obm.2_Silent_p.L603L|MEN1_uc001obn.2_Silent_p.L608L|MEN1_uc001obo.2_Silent_p.L608L|MEN1_uc001obp.2_Silent_p.L603L|MEN1_uc001obq.2_Silent_p.L608L|MEN1_uc001obr.2_Silent_p.L608L	p.L608L	NM_130800	NP_570712	O00255	MEN1_HUMAN			10	1897	-			608					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Silent	SNP	ENST00000337652.1	37	c.1824C>G	CCDS8083.1																																																																																				0.577	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1				114	177	0	0	0	0.01441	0	114	177		
GSTP1	2950	broad.mit.edu	37	11	67353963	67353963	+	Missense_Mutation	SNP	G	G	C	rs188653023	byFrequency	TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr11:67353963G>C	ENST00000398606.3	+	7	797	c.548G>C	c.(547-549)cGc>cCc	p.R183P	GSTP1_ENST00000398603.1_Missense_Mutation_p.R147P|GSTP1_ENST00000498765.1_3'UTR	NM_000852.3	NP_000843.1	P09211	GSTP1_HUMAN	glutathione S-transferase pi 1	183	GST C-terminal.				cellular response to lipopolysaccharide (GO:0071222)|central nervous system development (GO:0007417)|common myeloid progenitor cell proliferation (GO:0035726)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biosynthetic process (GO:0009890)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of leukocyte proliferation (GO:0070664)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|nitric oxide storage (GO:0035732)|positive regulation of superoxide anion generation (GO:0032930)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of stress-activated MAPK cascade (GO:0032872)|response to reactive oxygen species (GO:0000302)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|TRAF2-GSTP1 complex (GO:0097057)|vesicle (GO:0031982)	dinitrosyl-iron complex binding (GO:0035731)|glutathione transferase activity (GO:0004364)|JUN kinase binding (GO:0008432)|kinase regulator activity (GO:0019207)|nitric oxide binding (GO:0070026)|S-nitrosoglutathione binding (GO:0035730)			central_nervous_system(1)|cervix(1)|endometrium(4)|lung(2)|ovary(1)	9					Busulfan(DB01008)|Carboplatin(DB00958)|Chlorambucil(DB00291)|Cisplatin(DB00515)|Clomipramine(DB01242)|Etoposide(DB00773)|Glutathione(DB00143)|Oxaliplatin(DB00526)|Vitamin E(DB00163)	TATGTGGGGCGCCTCAGTGCC	0.617																																						uc001omf.2		NaN																	0				ovary(1)	1						c.(547-549)CGC>CCC		glutathione transferase	Ethacrynic acid(DB00903)|Glutathione(DB00143)						41.0	44.0	43.0					11																	67353963		2042	4169	6211	SO:0001583	missense	2950				anti-apoptosis|cellular response to lipopolysaccharide|central nervous system development|common myeloid progenitor cell proliferation|glutathione metabolic process|negative regulation of acute inflammatory response|negative regulation of ERK1 and ERK2 cascade|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 beta production|negative regulation of JUN kinase activity|negative regulation of leukocyte proliferation|negative regulation of monocyte chemotactic protein-1 production|negative regulation of necrotic cell death|negative regulation of nitric-oxide synthase 2 biosynthetic process|negative regulation of stress-activated MAPK cascade|negative regulation of tumor necrosis factor production|nitric oxide storage|positive regulation of superoxide anion generation|response to reactive oxygen species|xenobiotic metabolic process	cytosol|protein complex	dinitrosyl-iron complex binding|glutathione transferase activity|JUN kinase binding|kinase regulator activity|nitric oxide binding|S-nitrosoglutathione binding	g.chr11:67353963G>C	U12472	CCDS41679.1	11q13.2	2014-09-17	2008-07-18		ENSG00000084207	ENSG00000084207	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4638	protein-coding gene	gene with protein product		134660		FAEES3, GST3		1885604, 7587384, 19915149	Standard	NM_000852		Approved	GSTP	uc001omf.3	P09211	OTTHUMG00000137430	ENST00000398606.3:c.548G>C	11.37:g.67353963G>C	ENSP00000381607:p.Arg183Pro					GSTP1_uc001omg.1_Missense_Mutation_p.R164P	p.R183P	NM_000852	NP_000843	P09211	GSTP1_HUMAN			7	797	+			183			GST C-terminal.		O00460|Q15690|Q5TZY3	Missense_Mutation	SNP	ENST00000398606.3	37	c.548G>C	CCDS41679.1	.	.	.	.	.	.	.	.	.	.	G	10.96	1.498962	0.26861	.	.	ENSG00000084207	ENST00000398606;ENST00000398603	T;T	0.06768	3.26;3.26	5.3	3.44	0.39384	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.068955	0.53938	D	0.000043	T	0.32071	0.0817	H	0.96833	3.89	0.49798	D	0.999829	B	0.25312	0.123	P	0.44696	0.458	T	0.38329	-0.9666	9	0.87932	D	0	-27.5373	8.1145	0.30935	0.1867:0.0:0.8133:0.0	.	183	P09211	GSTP1_HUMAN	P	183;147	ENSP00000381607:R183P;ENSP00000381604:R147P	ENSP00000381604:R147P	R	+	2	0	GSTP1	67110539	0.691000	0.27709	0.164000	0.22755	0.003000	0.03518	2.859000	0.48364	0.622000	0.30249	-0.251000	0.11542	CGC		0.617	GSTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268504.1		NM_000852		22	38	0	0	0	0.00278	0	22	38		
PIWIL4	143689	broad.mit.edu	37	11	94310554	94310554	+	Missense_Mutation	SNP	A	A	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr11:94310554A>G	ENST00000299001.6	+	4	620	c.409A>G	c.(409-411)Aga>Gga	p.R137G	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	137					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|piP-body (GO:0071547)	piRNA binding (GO:0034584)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTTAGCATCTAGAAGGCTGAG	0.383																																						uc001pfa.2		NaN																	0				skin(1)	1						c.(409-411)AGA>GGA		piwi-like 4							85.0	85.0	85.0					11																	94310554		2201	4298	6499	SO:0001583	missense	143689				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding	g.chr11:94310554A>G	AB079366	CCDS31656.1	11q12	2013-02-15	2013-02-15			ENSG00000134627		"""Argonaute/PIWI family"""	18444	protein-coding gene	gene with protein product		610315	"""piwi-like 4 (Drosophila)"""			12906857	Standard	NM_152431		Approved	FLJ36156, HIWI2, Miwi2	uc001pfa.3	Q7Z3Z4		ENST00000299001.6:c.409A>G	11.37:g.94310554A>G	ENSP00000299001:p.Arg137Gly					PIWIL4_uc010rue.1_RNA|PIWIL4_uc009ywk.1_RNA	p.R137G	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN			4	620	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	137					B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Missense_Mutation	SNP	ENST00000299001.6	37	c.409A>G	CCDS31656.1	.	.	.	.	.	.	.	.	.	.	A	12.20	1.865708	0.32977	.	.	ENSG00000134627	ENST00000299001;ENST00000545603	T;T	0.10763	2.84;2.84	5.28	4.14	0.48551	Argonaute/Dicer protein, PAZ (1);	0.080558	0.51477	D	0.000095	T	0.11922	0.0290	L	0.52126	1.63	0.80722	D	1	B	0.19200	0.034	B	0.20384	0.029	T	0.04165	-1.0972	10	0.41790	T	0.15	-25.4588	11.484	0.50342	0.8491:0.1509:0.0:0.0	.	137	Q7Z3Z4	PIWL4_HUMAN	G	137;68	ENSP00000299001:R137G;ENSP00000440499:R68G	ENSP00000299001:R137G	R	+	1	2	PIWIL4	93950202	0.873000	0.30073	0.978000	0.43139	0.987000	0.75469	1.662000	0.37418	1.002000	0.39104	0.533000	0.62120	AGA		0.383	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396388.1		NM_152431		4	52	0	0	0	0.009096	0	4	52		
CACNA1C	775	broad.mit.edu	37	12	2602373	2602373	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr12:2602373G>T	ENST00000347598.4	+	7	934	c.934G>T	c.(934-936)Gac>Tac	p.D312Y	CACNA1C_ENST00000399617.1_Missense_Mutation_p.D312Y|CACNA1C_ENST00000335762.5_Missense_Mutation_p.D312Y|CACNA1C_ENST00000399606.1_Missense_Mutation_p.D312Y|CACNA1C_ENST00000399597.1_Missense_Mutation_p.D312Y|CACNA1C_ENST00000406454.3_Missense_Mutation_p.D312Y|CACNA1C_ENST00000399644.1_Missense_Mutation_p.D312Y|CACNA1C_ENST00000399591.1_Missense_Mutation_p.D312Y|CACNA1C_ENST00000399601.1_Missense_Mutation_p.D312Y|CACNA1C_ENST00000399638.1_Missense_Mutation_p.D312Y|CACNA1C_ENST00000399629.1_Missense_Mutation_p.D312Y|CACNA1C_ENST00000344100.3_Missense_Mutation_p.D312Y|CACNA1C_ENST00000399655.1_Missense_Mutation_p.D312Y|CACNA1C_ENST00000399649.1_Missense_Mutation_p.D312Y|CACNA1C_ENST00000399641.1_Missense_Mutation_p.D312Y|CACNA1C_ENST00000327702.7_Missense_Mutation_p.D312Y|CACNA1C_ENST00000402845.3_Missense_Mutation_p.D312Y|CACNA1C_ENST00000480911.1_Missense_Mutation_p.D312Y|CACNA1C_ENST00000399621.1_Missense_Mutation_p.D312Y|CACNA1C_ENST00000399634.1_Missense_Mutation_p.D312Y|CACNA1C_ENST00000399637.1_Missense_Mutation_p.D312Y|CACNA1C_ENST00000399595.1_Missense_Mutation_p.D312Y|CACNA1C_ENST00000399603.1_Missense_Mutation_p.D312Y	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	312					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)	AGCAGAAGATGACCCTTCCCC	0.592																																						uc009zdu.1		NaN																	0				ovary(10)|central_nervous_system(1)	11						c.(934-936)GAC>TAC		calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						57.0	59.0	58.0					12																	2602373		2094	4241	6335	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2602373G>T	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.934G>T	12.37:g.2602373G>T	ENSP00000266376:p.Asp312Tyr					CACNA1C_uc009zdv.1_Missense_Mutation_p.D309Y|CACNA1C_uc001qkb.2_Missense_Mutation_p.D312Y|CACNA1C_uc001qkc.2_Missense_Mutation_p.D312Y|CACNA1C_uc001qke.2_Missense_Mutation_p.D312Y|CACNA1C_uc001qkf.2_Missense_Mutation_p.D312Y|CACNA1C_uc001qjz.2_Missense_Mutation_p.D312Y|CACNA1C_uc001qkd.2_Missense_Mutation_p.D312Y|CACNA1C_uc001qkg.2_Missense_Mutation_p.D312Y|CACNA1C_uc009zdw.1_Missense_Mutation_p.D312Y|CACNA1C_uc001qkh.2_Missense_Mutation_p.D312Y|CACNA1C_uc001qkl.2_Missense_Mutation_p.D312Y|CACNA1C_uc001qkn.2_Missense_Mutation_p.D312Y|CACNA1C_uc001qko.2_Missense_Mutation_p.D312Y|CACNA1C_uc001qkp.2_Missense_Mutation_p.D312Y|CACNA1C_uc001qkr.2_Missense_Mutation_p.D312Y|CACNA1C_uc001qku.2_Missense_Mutation_p.D312Y|CACNA1C_uc001qkq.2_Missense_Mutation_p.D312Y|CACNA1C_uc001qks.2_Missense_Mutation_p.D312Y|CACNA1C_uc001qkt.2_Missense_Mutation_p.D312Y|CACNA1C_uc001qka.1_5'UTR|CACNA1C_uc001qki.1_Missense_Mutation_p.D48Y|CACNA1C_uc001qkj.1_Missense_Mutation_p.D48Y|CACNA1C_uc001qkk.1_Missense_Mutation_p.D48Y|CACNA1C_uc001qkm.1_Missense_Mutation_p.D48Y	p.D312Y	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	7	1247	+			312			I.|Extracellular (Potential).		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.934G>T	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543424	0.65198	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96802	-4.07;-4.07;-4.11;-4.07;-4.06;-4.06;-4.08;-3.98;-4.02;-4.07;-3.99;-4.0;-4.07;-4.11;-3.99;-3.92;-4.12;-4.08;-4.06;-4.1;-4.01;-4.1;-4.13	5.06	5.06	0.68205	Ion transport (1);	0.158933	0.56097	D	0.000029	D	0.97673	0.9237	M	0.65498	2.005	0.43761	D	0.996271	D;P;D;D;D;P;D;P;P;D;P;B;P;D;D;D;D;D;D;P;D;D;P;P	0.63046	0.99;0.955;0.973;0.992;0.983;0.955;0.971;0.942;0.937;0.983;0.955;0.09;0.947;0.963;0.976;0.986;0.971;0.971;0.976;0.955;0.971;0.971;0.955;0.955	D;P;P;D;P;P;P;P;P;P;P;B;P;P;D;P;P;P;P;P;P;P;P;P	0.68353	0.94;0.643;0.866;0.957;0.865;0.643;0.795;0.847;0.69;0.865;0.643;0.137;0.865;0.771;0.917;0.742;0.847;0.807;0.69;0.643;0.807;0.718;0.643;0.643	D	0.98104	1.0416	10	0.62326	D	0.03	.	18.6169	0.91305	0.0:0.0:1.0:0.0	.	312;309;312;312;312;312;312;312;312;312;312;283;312;312;312;312;312;312;312;312;312;312;312;312	Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	Y	312;312;312;312;312;312;312;312;312;312;312;312;312;312;312;312;312;312;312;312;312;312;312;153	ENSP00000336982:D312Y;ENSP00000382563:D312Y;ENSP00000437936:D312Y;ENSP00000382552:D312Y;ENSP00000382547:D312Y;ENSP00000382506:D312Y;ENSP00000382530:D312Y;ENSP00000382546:D312Y;ENSP00000382500:D312Y;ENSP00000382549:D312Y;ENSP00000266376:D312Y;ENSP00000382515:D312Y;ENSP00000382510:D312Y;ENSP00000341092:D312Y;ENSP00000382537:D312Y;ENSP00000329877:D312Y;ENSP00000382557:D312Y;ENSP00000385724:D312Y;ENSP00000382512:D312Y;ENSP00000382542:D312Y;ENSP00000382526:D312Y;ENSP00000385896:D312Y;ENSP00000382504:D312Y	ENSP00000323129:D153Y	D	+	1	0	CACNA1C	2472634	1.000000	0.71417	0.997000	0.53966	0.806000	0.45545	4.287000	0.59001	2.633000	0.89246	0.455000	0.32223	GAC		0.592	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1		NM_000719		39	65	1	0	2.87052e-16	0.005524	3.0665e-16	39	65		
TULP3	7289	broad.mit.edu	37	12	3000150	3000150	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr12:3000150G>C	ENST00000448120.2	+	1	88	c.37G>C	c.(37-39)Gac>Cac	p.D13H	TULP3_ENST00000397132.2_Missense_Mutation_p.D13H	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	13					anterior/posterior pattern specification (GO:0009952)|bone development (GO:0060348)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|central nervous system neuron differentiation (GO:0021953)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic neurocranium morphogenesis (GO:0048702)|G-protein coupled receptor signaling pathway (GO:0007186)|ganglion development (GO:0061548)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cilium (GO:0005929)|extracellular region (GO:0005576)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	enzyme binding (GO:0019899)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			TCCCAGCGGCGACAGGTCAGA	0.711																																						uc010seh.1		NaN																	0					0						c.(37-39)GAC>CAC		tubby like protein 3 isoform 1							21.0	22.0	22.0					12																	3000150		2197	4293	6490	SO:0001583	missense	7289				G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding	g.chr12:3000150G>C	AF045583	CCDS8519.1, CCDS53737.1	12p13	2014-02-21			ENSG00000078246	ENSG00000078246		"""Intraflagellar transport homologs"""	12425	protein-coding gene	gene with protein product		604730				9828123	Standard	NM_003324		Approved	TUBL3	uc001qlj.2	O75386	OTTHUMG00000168152	ENST00000448120.2:c.37G>C	12.37:g.3000150G>C	ENSP00000410051:p.Asp13His					TULP3_uc010sef.1_Intron|TULP3_uc009zec.1_5'UTR|TULP3_uc010seg.1_RNA|TULP3_uc001qlj.2_Missense_Mutation_p.D13H|TULP3_uc010sei.1_5'UTR	p.D13H	NM_003324	NP_003315	O75386	TULP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000818)		1	118	+			13					B3KNB7|B7Z6A2|D3DUQ4|F8WBZ9|Q8N5B0	Missense_Mutation	SNP	ENST00000448120.2	37	c.37G>C	CCDS8519.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.275231	0.59649	.	.	ENSG00000078246	ENST00000228245;ENST00000448120;ENST00000397132	D;D	0.92595	-3.04;-3.07	4.31	2.33	0.28932	.	1.221100	0.05470	N	0.552823	D	0.93956	0.8065	L	0.59436	1.845	0.80722	D	1	P;D	0.53462	0.929;0.96	P;P	0.58172	0.613;0.834	D	0.85663	0.1290	10	0.54805	T	0.06	-15.9241	9.0715	0.36495	0.0:0.0:0.5597:0.4403	.	13;13	O75386;F8WBZ9	TULP3_HUMAN;.	H	13	ENSP00000410051:D13H;ENSP00000380321:D13H	ENSP00000228245:D13H	D	+	1	0	TULP3	2870411	1.000000	0.71417	1.000000	0.80357	0.403000	0.30841	1.159000	0.31749	0.472000	0.27344	0.561000	0.74099	GAC		0.711	TULP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398468.1		NM_003324		7	13	0	0	0	0.00308	0	7	13		
GPRC5A	9052	broad.mit.edu	37	12	13062090	13062090	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr12:13062090G>C	ENST00000014914.5	+	2	1797	c.907G>C	c.(907-909)Gag>Cag	p.E303Q	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, class C, group 5, member A	303					signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	CTACTCTCAAGAGGAAATCAC	0.453																																						uc001rba.2		NaN																	0					0						c.(907-909)GAG>CAG		G protein-coupled receptor, family C, group 5,	Tretinoin(DB00755)						52.0	51.0	51.0					12																	13062090		2203	4300	6503	SO:0001583	missense	9052					cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane	G-protein coupled receptor activity	g.chr12:13062090G>C	AF095448	CCDS8657.1	12p13-p12.3	2014-01-30	2014-01-30	2005-05-03		ENSG00000013588		"""GPCR / Class C : Orphans"""	9836	protein-coding gene	gene with protein product		604138	"""retinoic acid induced 3"", ""G protein-coupled receptor, family C, group 5, member A"""	RAI3, GPCR5A		9857033	Standard	NM_003979		Approved	RAIG1	uc001rba.3	Q8NFJ5		ENST00000014914.5:c.907G>C	12.37:g.13062090G>C	ENSP00000014914:p.Glu303Gln					GPRC5A_uc001raz.2_Missense_Mutation_p.E303Q	p.E303Q	NM_003979	NP_003970	Q8NFJ5	RAI3_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0708)	2	1557	+		Prostate(47;0.141)	303			Cytoplasmic (Potential).		B3KV45|O95357	Missense_Mutation	SNP	ENST00000014914.5	37	c.907G>C	CCDS8657.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.214658	0.79352	.	.	ENSG00000013588	ENST00000014914;ENST00000540125	T	0.19806	2.12	5.64	5.64	0.86602	.	0.143885	0.47852	D	0.000209	T	0.32496	0.0831	L	0.34521	1.04	0.53688	D	0.999974	D;D	0.63880	0.993;0.993	P;P	0.55713	0.722;0.782	T	0.01648	-1.1304	10	0.59425	D	0.04	-19.0776	19.7002	0.96049	0.0:0.0:1.0:0.0	.	303;303	Q8NFJ5;A8K556	RAI3_HUMAN;.	Q	303;30	ENSP00000014914:E303Q	ENSP00000014914:E303Q	E	+	1	0	GPRC5A	12953357	1.000000	0.71417	0.995000	0.50966	0.608000	0.37181	8.454000	0.90352	2.663000	0.90544	0.650000	0.86243	GAG		0.453	GPRC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400682.1				21	37	0	0	0	0.003954	0	21	37		
PYROXD1	79912	broad.mit.edu	37	12	21608984	21608984	+	Silent	SNP	G	G	A	rs137912595		TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr12:21608984G>A	ENST00000240651.9	+	7	759	c.705G>A	c.(703-705)ttG>ttA	p.L235L	PYROXD1_ENST00000538582.1_Silent_p.L164L|PYROXD1_ENST00000545178.1_3'UTR	NM_024854.3	NP_079130.2	Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 1	235							oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						GAAGTGCATTGGGACCAGATT	0.308																																						uc001rew.2		NaN																	0				ovary(1)	1						c.(703-705)TTG>TTA		pyridine nucleotide-disulphide oxidoreductase		G		0,4406		0,0,2203	101.0	99.0	100.0		705	1.4	0.9	12	dbSNP_134	100	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PYROXD1	NM_024854.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		235/501	21608984	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79912						oxidoreductase activity	g.chr12:21608984G>A	AL832441	CCDS31755.1	12p12.1	2014-02-12			ENSG00000121350	ENSG00000121350			26162	protein-coding gene	gene with protein product						12477932	Standard	NM_024854		Approved	DKFZp762G094, FLJ22028	uc001rew.3	Q8WU10	OTTHUMG00000169129	ENST00000240651.9:c.705G>A	12.37:g.21608984G>A						PYROXD1_uc009ziq.2_5'UTR|PYROXD1_uc009zir.2_5'UTR	p.L235L	NM_024854	NP_079130	Q8WU10	PYRD1_HUMAN			7	832	+			235					A6NKI6|B3KWN8|Q9H6P1	Silent	SNP	ENST00000240651.9	37	c.705G>A	CCDS31755.1																																																																																				0.308	PYROXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402363.1		NM_024854		43	64	0	0	0	0.01441	0	43	64		
SLC38A2	54407	broad.mit.edu	37	12	46757598	46757598	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr12:46757598C>A	ENST00000256689.5	-	12	1409	c.965G>T	c.(964-966)aGa>aTa	p.R322I	SLC38A2_ENST00000551374.1_Missense_Mutation_p.R160I|SLC38A2_ENST00000547252.1_5'Flank	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	322					amino acid transport (GO:0006865)|glutamate secretion (GO:0014047)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|sodium ion transport (GO:0006814)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		CATCATTCTTCTACGGCTGCG	0.338																																					Ovarian(9;448 492 8335 28722 40361)	uc001rpg.2		NaN																	0				urinary_tract(1)|skin(1)	2						c.(964-966)AGA>ATA		solute carrier family 38, member 2							97.0	97.0	97.0					12																	46757598		2202	4299	6501	SO:0001583	missense	54407				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr12:46757598C>A	AB037803	CCDS8749.1	12q13.11	2014-08-12			ENSG00000134294	ENSG00000134294		"""Solute carriers"""	13448	protein-coding gene	gene with protein product		605180				10747860, 17237199	Standard	NM_018976		Approved	SAT2, ATA2, KIAA1382, SNAT2	uc001rpg.3	Q96QD8	OTTHUMG00000169471	ENST00000256689.5:c.965G>T	12.37:g.46757598C>A	ENSP00000256689:p.Arg322Ile					SLC38A2_uc010sli.1_Missense_Mutation_p.R160I|SLC38A2_uc001rph.2_Missense_Mutation_p.R222I	p.R322I	NM_018976	NP_061849	Q96QD8	S38A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)	12	1405	-	Lung SC(27;0.192)|Renal(347;0.236)		322			Cytoplasmic (Potential).		Q6IA88|Q6ZMG2|Q9HAV3|Q9NVA8|Q9P2G5	Missense_Mutation	SNP	ENST00000256689.5	37	c.965G>T	CCDS8749.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.897886	0.72639	.	.	ENSG00000134294	ENST00000256689;ENST00000551374	T;T	0.02345	4.33;4.33	5.41	3.58	0.41010	.	0.233547	0.50627	D	0.000116	T	0.09818	0.0241	M	0.71206	2.165	0.58432	D	0.999997	P;P;P	0.44309	0.68;0.832;0.813	B;P;P	0.55455	0.381;0.776;0.679	T	0.01356	-1.1376	10	0.48119	T	0.1	-9.5567	10.4289	0.44395	0.0:0.77:0.0:0.23	.	160;222;322	F8VQW8;Q96QD8-2;Q96QD8	.;.;S38A2_HUMAN	I	322;160	ENSP00000256689:R322I;ENSP00000450406:R160I	ENSP00000256689:R322I	R	-	2	0	SLC38A2	45043865	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	1.435000	0.34969	0.773000	0.33404	0.563000	0.77884	AGA		0.338	SLC38A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404226.1				25	56	1	0	1.33986e-20	0.004656	1.46067e-20	25	56		
ASB8	140461	broad.mit.edu	37	12	48547243	48547243	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr12:48547243G>A	ENST00000317697.3	-	2	206	c.37C>T	c.(37-39)Cag>Tag	p.Q13*	ASB8_ENST00000536549.1_Nonsense_Mutation_p.Q13*|ASB8_ENST00000536953.1_Nonsense_Mutation_p.Q13*|ASB8_ENST00000535988.1_Nonsense_Mutation_p.Q13*|ASB8_ENST00000536071.1_Nonsense_Mutation_p.Q13*|ASB8_ENST00000535055.1_Nonsense_Mutation_p.Q13*|ASB8_ENST00000539528.1_Nonsense_Mutation_p.Q13*|ASB8_ENST00000537754.1_Intron|ASB8_ENST00000540782.1_Nonsense_Mutation_p.Q13*	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box containing 8	13					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						TATTTGCTCTGAATGCTCTGC	0.448																																						uc001rrh.2		NaN																	0				kidney(1)	1						c.(37-39)CAG>TAG		ankyrin repeat and SOCS box-containing 8							134.0	126.0	129.0					12																	48547243		2203	4300	6503	SO:0001587	stop_gained	140461				intracellular signal transduction	cytoplasm|nucleus		g.chr12:48547243G>A	AK024908	CCDS8761.1	12q13.12	2013-01-10	2011-01-25			ENSG00000177981		"""Ankyrin repeat domain containing"""	17183	protein-coding gene	gene with protein product		615053	"""ankyrin repeat and SOCS box-containing 8"""			12076535	Standard	NM_024095		Approved	MGC5540, FLJ21255	uc001rrh.3	Q9H765		ENST00000317697.3:c.37C>T	12.37:g.48547243G>A	ENSP00000320893:p.Gln13*					ASB8_uc010slr.1_Nonsense_Mutation_p.Q9*	p.Q13*	NM_024095	NP_077000	Q9H765	ASB8_HUMAN			2	206	-			13					A8K1P2|Q547Q2	Nonsense_Mutation	SNP	ENST00000317697.3	37	c.37C>T	CCDS8761.1	.	.	.	.	.	.	.	.	.	.	G	35	5.473877	0.96291	.	.	ENSG00000177981	ENST00000317697;ENST00000536549;ENST00000446549;ENST00000536953;ENST00000539528;ENST00000535055;ENST00000536071;ENST00000539503;ENST00000545791;ENST00000540212;ENST00000540782;ENST00000535988;ENST00000548228	.	.	.	4.94	4.02	0.46733	.	0.118903	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-11.0809	12.6209	0.56603	0.0:0.0:0.6992:0.3008	.	.	.	.	X	13	.	ENSP00000320893:Q13X	Q	-	1	0	ASB8	46833510	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.040000	0.76551	1.331000	0.45412	0.650000	0.86243	CAG		0.448	ASB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396497.1				55	81	0	0	0	0.01441	0	55	81		
ZNF641	121274	broad.mit.edu	37	12	48736909	48736909	+	Silent	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr12:48736909C>T	ENST00000544117.2	-	6	1872	c.1164G>A	c.(1162-1164)gtG>gtA	p.V388V	ZNF641_ENST00000547026.1_Silent_p.V374V|ZNF641_ENST00000301042.3_Silent_p.V388V|ZNF641_ENST00000448928.3_Silent_p.V365V			Q96N77	ZN641_HUMAN	zinc finger protein 641	388					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.V388V(1)		breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						GCCAGTGTCTCACAAGGTGGT	0.597																																						uc001rrn.1		NaN																	1	Substitution - coding silent(1)		endometrium(1)	ovary(1)|pancreas(1)	2						c.(1162-1164)GTG>GTA		zinc finger protein 641							107.0	96.0	100.0					12																	48736909		2203	4300	6503	SO:0001819	synonymous_variant	121274				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr12:48736909C>T	BC018090	CCDS8763.1, CCDS53787.1, CCDS53788.1	12q13.11	2013-01-08				ENSG00000167528		"""Zinc fingers, C2H2-type"", ""-"""	31834	protein-coding gene	gene with protein product		613906					Standard	NM_152320		Approved	FLJ31295	uc001rro.2	Q96N77		ENST00000544117.2:c.1164G>A	12.37:g.48736909C>T						ZNF641_uc001rro.1_Silent_p.V374V|ZNF641_uc010sls.1_Silent_p.V365V	p.V388V	NM_152320	NP_689533	Q96N77	ZN641_HUMAN			6	1329	-			388			C2H2-type 4.		B3KS43|B4DNU5|Q8TCQ7|Q8WVE1	Silent	SNP	ENST00000544117.2	37	c.1164G>A	CCDS8763.1																																																																																				0.597	ZNF641-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000406518.1		NM_152320		14	179	0	0	0	0.00499	0	14	179		
GPD1	2819	broad.mit.edu	37	12	50500080	50500080	+	Missense_Mutation	SNP	G	G	A	rs34783513	byFrequency	TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr12:50500080G>A	ENST00000301149.3	+	4	602	c.370G>A	c.(370-372)Gag>Aag	p.E124K	GPD1_ENST00000548814.1_Missense_Mutation_p.E101K|GPD1_ENST00000547190.1_3'UTR	NM_001257199.1|NM_005276.3	NP_001244128.1|NP_005267.2	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)	124			E -> K (in dbSNP:rs34783513). {ECO:0000269|PubMed:22226083}.		cellular lipid metabolic process (GO:0044255)|cellular response to cAMP (GO:0071320)|cellular response to tumor necrosis factor (GO:0071356)|gluconeogenesis (GO:0006094)|glycerol-3-phosphate catabolic process (GO:0046168)|glycerophosphate shuttle (GO:0006127)|glycerophospholipid biosynthetic process (GO:0046474)|NADH oxidation (GO:0006116)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of glycolytic process (GO:0045821)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrion (GO:0005739)	glycerol-3-phosphate dehydrogenase [NAD+] activity (GO:0004367)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|NAD binding (GO:0051287)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						GGGGGTAGACGAGGGCCCCAA	0.622													G|||	4	0.000798722	0.0	0.0014	5008	,	,		16619	0.0		0.002	False		,,,				2504	0.001				NSCLC(141;1402 1905 9497 13391 44868)	uc001rvz.2		NaN																	0					0						c.(370-372)GAG>AAG		glycerol-3-phosphate dehydrogenase 1 (soluble)	NADH(DB00157)	G	LYS/GLU	0,4406		0,0,2203	37.0	32.0	34.0		370	2.7	1.0	12	dbSNP_126	34	22,8578	16.0+/-53.3	0,22,4278	yes	missense	GPD1	NM_005276.2	56	0,22,6481	AA,AG,GG		0.2558,0.0,0.1692	possibly-damaging	124/350	50500080	22,12984	2203	4300	6503	SO:0001583	missense	2819				glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity	g.chr12:50500080G>A		CCDS8799.1, CCDS58229.1	12q13.12	2013-09-20			ENSG00000167588	ENSG00000167588	1.1.1.8		4455	protein-coding gene	gene with protein product		138420					Standard	NM_005276		Approved		uc001rvz.4	P21695	OTTHUMG00000169813	ENST00000301149.3:c.370G>A	12.37:g.50500080G>A	ENSP00000301149:p.Glu124Lys					GPD1_uc001rwa.2_Missense_Mutation_p.E101K	p.E124K	NM_005276	NP_005267	P21695	GPDA_HUMAN			4	403	+			124					F8W1L5|Q8N1B0	Missense_Mutation	SNP	ENST00000301149.3	37	c.370G>A	CCDS8799.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	10.33	1.320563	0.23994	0.0	0.002558	ENSG00000167588	ENST00000301149;ENST00000547190;ENST00000548814	T;T	0.56941	0.43;0.77	5.48	2.69	0.31865	Glycerol-3-phosphate dehydrogenase, NAD-dependent, N-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.31104	0.0786	N	0.25286	0.73	0.58432	D	0.999996	B;B	0.24963	0.005;0.115	B;B	0.23150	0.004;0.044	T	0.06570	-1.0819	10	0.07990	T	0.79	-0.062	8.6153	0.33829	0.2416:0.0:0.7584:0.0	rs34783513	101;124	F8W1L5;P21695	.;GPDA_HUMAN	K	124;124;101	ENSP00000301149:E124K;ENSP00000446768:E101K	ENSP00000301149:E124K	E	+	1	0	GPD1	48786347	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.937000	0.63513	0.389000	0.25086	0.555000	0.69702	GAG		0.622	GPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406018.1				3	31	0	0	0	0.004672	0	3	31		
KRT2	3849	broad.mit.edu	37	12	53045870	53045870	+	Silent	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr12:53045870G>A	ENST00000309680.3	-	1	78	c.57C>T	c.(55-57)ttC>ttT	p.F19F		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	19	Head.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TGAAGCCCCGGAAtcctcctc	0.577																																						uc001sat.2		NaN																	0				ovary(2)	2						c.(55-57)TTC>TTT		keratin 2							27.0	30.0	29.0					12																	53045870		2202	4299	6501	SO:0001819	synonymous_variant	3849				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:53045870G>A		CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6439	protein-coding gene	gene with protein product	"""epidermal ichthyosis bullosa of Siemens"""	600194	"""keratin 2A (epidermal ichthyosis bullosa of Siemens)"""	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.57C>T	12.37:g.53045870G>A							p.F19F	NM_000423	NP_000414	P35908	K22E_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.19)	1	90	-			19			Head.		Q4VAQ2	Silent	SNP	ENST00000309680.3	37	c.57C>T	CCDS8835.1																																																																																				0.577	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1		NM_000423		5	9	0	0	0	0.000602	0	5	9		
ERBB3	2065	broad.mit.edu	37	12	56487277	56487277	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr12:56487277C>T	ENST00000267101.3	+	12	1863	c.1423C>T	c.(1423-1425)Cgg>Tgg	p.R475W	ERBB3_ENST00000553131.1_5'Flank|ERBB3_ENST00000415288.2_Missense_Mutation_p.R416W|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	475					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CAAGGTGCTTCGGGGGCCTAC	0.547																																						uc001sjh.2		NaN																	0				lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8						c.(1423-1425)CGG>TGG		erbB-3 isoform 1 precursor							77.0	77.0	77.0					12																	56487277		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56487277C>T	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.1423C>T	12.37:g.56487277C>T	ENSP00000267101:p.Arg475Trp					ERBB3_uc009zoj.2_Intron|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.R416W|ERBB3_uc009zok.2_5'Flank|ERBB3_uc001sjk.2_5'Flank|ERBB3_uc001sjj.1_Missense_Mutation_p.R43W	p.R475W	NM_001982	NP_001973	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		12	1616	+			475			Extracellular (Potential).		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.1423C>T	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.456923	0.84317	.	.	ENSG00000065361	ENST00000267101;ENST00000415288	T;T	0.46063	0.88;0.88	5.16	5.16	0.70880	.	0.114383	0.39475	N	0.001348	T	0.44726	0.1307	N	0.22421	0.69	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.54140	0.715;0.743	T	0.46775	-0.9167	10	0.72032	D	0.01	.	17.5796	0.87963	0.0:1.0:0.0:0.0	.	475;475	B4DGQ7;P21860	.;ERBB3_HUMAN	W	475;416	ENSP00000267101:R475W;ENSP00000408340:R416W	ENSP00000267101:R475W	R	+	1	2	ERBB3	54773544	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	3.998000	0.57024	2.676000	0.91093	0.655000	0.94253	CGG		0.547	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3				91	61	0	0	0	0.01441	0	91	61		
TMEM194A	23306	broad.mit.edu	37	12	57472424	57472425	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr12:57472424_57472425GG>AA	ENST00000300128.4	-	1	127_128	c.104_105CC>TT	c.(103-105)tCC>tTT	p.S35F	TMEM194A_ENST00000379391.3_Missense_Mutation_p.S35F|TMEM194A_ENST00000553654.1_Intron	NM_001130963.1	NP_001124435.1	O14524	T194A_HUMAN	transmembrane protein 194A	35						integral component of membrane (GO:0016021)				endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CCAAGCAGCCGGAGAGGATCAA	0.673																																						uc001smy.2		NaN																	0					0						c.(103-105)TCC>TTT		transmembrane protein 194A isoform a																																				SO:0001583	missense	23306					integral to membrane		g.chr12:57472424_57472425GG>AA	AB006624	CCDS31841.1, CCDS44927.1	12q13.3	2008-06-10	2008-06-10	2008-06-10		ENSG00000166881			29001	protein-coding gene	gene with protein product			"""transmembrane protein 194"""	TMEM194			Standard	NM_015257		Approved	KIAA0286	uc001smy.3	O14524		ENST00000300128.4:c.104_105delinsAA	12.37:g.57472424_57472425delinsAA	ENSP00000300128:p.Ser35Phe					TMEM194A_uc001smx.2_Missense_Mutation_p.S35F|TMEM194A_uc010sra.1_5'UTR	p.S35F	NM_001130963	NP_001124435	O14524	T194A_HUMAN			1	150_151	-			35			Helical; (Potential).		Q17R72|Q68DH0|Q6IQ25	Missense_Mutation	DNP	ENST00000300128.4	37	c.104_105CC>TT	CCDS44927.1																																																																																				0.673	TMEM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411272.1		NM_015257		57	181	0	0	0	0.004672	0	57	181		
LEMD3	23592	broad.mit.edu	37	12	65564407	65564407	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr12:65564407G>T	ENST00000308330.2	+	1	1057	c.1031G>T	c.(1030-1032)gGa>gTa	p.G344V	LEMD3_ENST00000541171.1_Intron	NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	344					negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of cell cycle (GO:0051726)|skeletal muscle cell differentiation (GO:0035914)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		GAGCAGGGAGGAGGGTGTGAT	0.627																																						uc001ssl.1		NaN																	0				central_nervous_system(3)|ovary(1)	4						c.(1030-1032)GGA>GTA		LEM domain containing 3							49.0	51.0	51.0					12																	65564407		2203	4300	6503	SO:0001583	missense	23592				negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding	g.chr12:65564407G>T	AF263918	CCDS8972.1	12q14	2008-02-05			ENSG00000174106	ENSG00000174106			28887	protein-coding gene	gene with protein product		607844				10671519, 15489854	Standard	NM_014319		Approved	MAN1	uc001ssl.2	Q9Y2U8	OTTHUMG00000168840	ENST00000308330.2:c.1031G>T	12.37:g.65564407G>T	ENSP00000308369:p.Gly344Val					LEMD3_uc009zqo.1_Missense_Mutation_p.G344V	p.G344V	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)	1	1037	+			344					Q9NT47|Q9NYA5	Missense_Mutation	SNP	ENST00000308330.2	37	c.1031G>T	CCDS8972.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.693702	0.68386	.	.	ENSG00000174106	ENST00000308330	T	0.61510	0.1	3.69	3.69	0.42338	.	0.584121	0.14986	N	0.286976	T	0.61924	0.2386	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.60347	-0.7281	9	.	.	.	-8.6534	16.3487	0.83191	0.0:0.0:1.0:0.0	.	344	Q9Y2U8	MAN1_HUMAN	V	344	ENSP00000308369:G344V	.	G	+	2	0	LEMD3	63850674	1.000000	0.71417	0.998000	0.56505	0.919000	0.55068	5.048000	0.64238	2.349000	0.79799	0.462000	0.41574	GGA		0.627	LEMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401312.2				22	71	1	0	2.32416e-17	0.014323	2.50294e-17	22	71		
TRHDE	29953	broad.mit.edu	37	12	73012710	73012710	+	Silent	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr12:73012710C>T	ENST00000261180.4	+	13	2322	c.2226C>T	c.(2224-2226)atC>atT	p.I742I	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	742					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TGGAGATTATCAGATACCTGT	0.398																																						uc001sxa.2		NaN																	0				ovary(2)|skin(1)	3						c.(2224-2226)ATC>ATT		thyrotropin-releasing hormone degrading enzyme							58.0	63.0	62.0					12																	73012710		2202	4300	6502	SO:0001819	synonymous_variant	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:73012710C>T	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2226C>T	12.37:g.73012710C>T							p.I742I	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN			13	2256	+			742			Extracellular (Potential).		A5PL19|Q6UWJ4	Silent	SNP	ENST00000261180.4	37	c.2226C>T	CCDS9004.1																																																																																				0.398	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1		NM_013381		29	62	0	0	0	0.007291	0	29	62		
KRR1	11103	broad.mit.edu	37	12	75905329	75905329	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr12:75905329C>T	ENST00000229214.4	-	1	72	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K	KRR1_ENST00000438169.2_Missense_Mutation_p.E17K	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN	KRR1, small subunit (SSU) processome component, homolog (yeast)	17					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						TTACGAAATTCACTTTTTCCA	0.502																																						uc001sxt.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(49-51)GAA>AAA		HIV-1 rev binding protein 2							114.0	105.0	108.0					12																	75905329		2203	4300	6503	SO:0001583	missense	11103				rRNA processing	nucleolus|ribonucleoprotein complex	RNA binding	g.chr12:75905329C>T	U55766	CCDS9012.1	12q	2011-03-15	2006-05-18	2006-05-18	ENSG00000111615	ENSG00000111615			5176	protein-coding gene	gene with protein product		612817	"""HIV-1 rev binding protein 2"", ""HIV-1 Rev binding protein 2"""	HRB2		7505766, 11027267, 11359931, 8675026	Standard	NM_007043		Approved	RIP-1	uc001sxt.3	Q13601	OTTHUMG00000169759	ENST00000229214.4:c.49G>A	12.37:g.75905329C>T	ENSP00000229214:p.Glu17Lys					KRR1_uc009zsc.2_Missense_Mutation_p.E17K|KRR1_uc010stx.1_Missense_Mutation_p.E17K	p.E17K	NM_007043	NP_008974	Q13601	KRR1_HUMAN			1	90	-			17					A0FIK6|A0JLP0|B2R989|E7EUQ0|Q8NEA8|Q8TC37|Q96AT5	Missense_Mutation	SNP	ENST00000229214.4	37	c.49G>A	CCDS9012.1	.	.	.	.	.	.	.	.	.	.	C	1.548	-0.539956	0.04053	.	.	ENSG00000111615	ENST00000229214;ENST00000438169	T;T	0.43294	1.0;0.95	4.27	2.44	0.29823	.	0.460964	0.20764	N	0.086118	T	0.13543	0.0328	N	0.02685	-0.53	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.32534	-0.9903	10	0.02654	T	1	-2.1321	5.8262	0.18554	0.0:0.6594:0.2301:0.1104	.	17;17;17	B4DMS5;E7EUQ0;Q13601	.;.;KRR1_HUMAN	K	17	ENSP00000229214:E17K;ENSP00000411740:E17K	ENSP00000229214:E17K	E	-	1	0	KRR1	74191596	0.001000	0.12720	0.001000	0.08648	0.021000	0.10359	0.936000	0.28938	0.738000	0.32606	-0.145000	0.13849	GAA		0.502	KRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405727.1		NM_007043		46	100	0	0	0	0.01441	0	46	100		
SLC17A8	246213	broad.mit.edu	37	12	100797869	100797869	+	Silent	SNP	T	T	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr12:100797869T>C	ENST00000323346.5	+	9	1420	c.1107T>C	c.(1105-1107)atT>atC	p.I369I	snoU13_ENST00000459038.1_RNA|SLC17A8_ENST00000392989.3_Silent_p.I319I	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	369					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TTGTACCTATTGGAGGACAAT	0.403																																						uc010svi.1		NaN																	0				ovary(3)	3						c.(1105-1107)ATT>ATC		solute carrier family 17 (sodium-dependent							115.0	113.0	113.0					12																	100797869		2203	4300	6503	SO:0001819	synonymous_variant	246213				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr12:100797869T>C	AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"""Solute carriers"""	20151	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 3"""	607557	"""deafness, autosomal dominant 25"", ""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"""	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.1107T>C	12.37:g.100797869T>C						SLC17A8_uc009ztx.2_Silent_p.I319I	p.I369I	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN			9	1420	+			369			Helical; (Potential).		B3KXZ6|B7ZKV4|Q17RQ8	Silent	SNP	ENST00000323346.5	37	c.1107T>C	CCDS9077.1																																																																																				0.403	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2		NM_139319		31	67	0	0	0	0.012213	0	31	67		
MED13L	23389	broad.mit.edu	37	12	116403955	116403955	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr12:116403955C>G	ENST00000281928.3	-	29	6525	c.6319G>C	c.(6319-6321)Gag>Cag	p.E2107Q		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	2107						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GGAAGATTCTCAGCTTTGGCA	0.488																																						uc001tvw.2		NaN																	0				skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8						c.(6319-6321)GAG>CAG		mediator complex subunit 13-like							128.0	132.0	131.0					12																	116403955		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116403955C>G	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.6319G>C	12.37:g.116403955C>G	ENSP00000281928:p.Glu2107Gln						p.E2107Q	NM_015335	NP_056150	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	29	6374	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		2107					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.6319G>C	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.001118	0.93227	.	.	ENSG00000123066	ENST00000281928	T	0.74209	-0.82	6.17	6.17	0.99709	.	0.149738	0.64402	D	0.000012	T	0.78285	0.4259	N	0.22421	0.69	0.47009	D	0.999287	D	0.57257	0.979	P	0.60236	0.871	T	0.78344	-0.2240	10	0.54805	T	0.06	-21.8002	20.8794	0.99867	0.0:1.0:0.0:0.0	.	2107	Q71F56	MD13L_HUMAN	Q	2107	ENSP00000281928:E2107Q	ENSP00000281928:E2107Q	E	-	1	0	MED13L	114888338	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	5.699000	0.68310	2.941000	0.99782	0.655000	0.94253	GAG		0.488	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3				75	135	0	0	0	0.01441	0	75	135		
BRCA2	675	broad.mit.edu	37	13	32912514	32912514	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr13:32912514C>G	ENST00000380152.3	+	11	4255	c.4022C>G	c.(4021-4023)tCa>tGa	p.S1341*	BRCA2_ENST00000544455.1_Nonsense_Mutation_p.S1341*			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1341	Interaction with POLH.				brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GGCAGTGATTCAAGTAAAAAT	0.303			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	uc001uub.1		NaN	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	D|Mis|N|F|S	familial breast/ovarian cancer gene 2			"""L, E"""		breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)	breast|ovarian|pancreatic		0				ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64						c.(4021-4023)TCA>TGA	Direct_reversal_of_damage|Homologous_recombination	breast cancer 2, early onset							38.0	38.0	38.0					13																	32912514		2201	4300	6501	SO:0001587	stop_gained	675	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32912514C>G	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.4022C>G	13.37:g.32912514C>G	ENSP00000369497:p.Ser1341*	TCGA Ovarian(8;0.087)					p.S1341*	NM_000059	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	4249	+		Lung SC(185;0.0262)	1341					O00183|O15008|Q13879|Q5TBJ7	Nonsense_Mutation	SNP	ENST00000380152.3	37	c.4022C>G	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	C	40	7.967890	0.98585	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	.	.	.	5.74	3.91	0.45181	.	1.121610	0.06691	N	0.769616	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	4.3819	0.11299	0.0:0.5952:0.1844:0.2203	.	.	.	.	X	1341	.	ENSP00000369497:S1341X	S	+	2	0	BRCA2	31810514	0.007000	0.16637	0.064000	0.19789	0.098000	0.18820	0.033000	0.13754	1.426000	0.47256	0.557000	0.71058	TCA		0.303	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2		NM_000059		25	46	0	0	0	0.00333	0	25	46		
CAB39L	81617	broad.mit.edu	37	13	49933858	49933858	+	Silent	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr13:49933858G>A	ENST00000355854.4	-	4	884	c.387C>T	c.(385-387)ctC>ctT	p.L129L	CAB39L_ENST00000409308.1_Silent_p.L129L|CAB39L_ENST00000410043.1_Silent_p.L129L|CAB39L_ENST00000347776.5_Silent_p.L129L	NM_030925.2	NP_112187.2	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	129					cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		ACCCTTTGAGGAGCATAAACA	0.393																																						uc001vcw.2		NaN																	0					0						c.(385-387)CTC>CTT		calcium binding protein 39-like							148.0	132.0	137.0					13																	49933858		2203	4300	6503	SO:0001819	synonymous_variant	81617				cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding	g.chr13:49933858G>A	AK022639	CCDS9416.2	13q14.11	2008-02-05			ENSG00000102547	ENSG00000102547			20290	protein-coding gene	gene with protein product		612175					Standard	NM_030925		Approved	bA103J18.3, FLJ12577, MO2L	uc001vcw.3	Q9H9S4	OTTHUMG00000016914	ENST00000355854.4:c.387C>T	13.37:g.49933858G>A						CAB39L_uc001vcx.2_Silent_p.L129L|CAB39L_uc010adf.2_Silent_p.L126L	p.L129L	NM_030925	NP_112187	Q9H9S4	CB39L_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)	4	885	-		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	129					Q5TAW6|Q6WG71|Q96FG1|Q9BZ33	Silent	SNP	ENST00000355854.4	37	c.387C>T	CCDS9416.2																																																																																				0.393	CAB39L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044908.3		NM_030925		30	79	0	0	0	0.013726	0	30	79		
KLHL1	57626	broad.mit.edu	37	13	70681661	70681661	+	Silent	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr13:70681661G>C	ENST00000377844.4	-	1	930	c.171C>G	c.(169-171)ctC>ctG	p.L57L	ATXN8OS_ENST00000414504.2_RNA|ATXN8OS_ENST00000424524.1_RNA|KLHL1_ENST00000545028.1_5'UTR	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	57	Ser-rich.				actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)	p.L57L(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CTTGGCTTTTGAGCAGGCGAC	0.617																																						uc001vip.2		NaN																	2	Substitution - coding silent(2)		ovary(1)|lung(1)		0						c.(169-171)CTC>CTG		kelch-like 1 protein							65.0	75.0	72.0					13																	70681661		2203	4300	6503	SO:0001819	synonymous_variant	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70681661G>C	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.171C>G	13.37:g.70681661G>C						KLHL1_uc010thm.1_Silent_p.L57L|ATXN8OS_uc010aej.1_RNA	p.L57L	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	1	965	-		Breast(118;0.000162)	57			Ser-rich.		A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Silent	SNP	ENST00000377844.4	37	c.171C>G	CCDS9445.1																																																																																				0.617	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3		NM_020866		49	92	0	0	0	0.01441	0	49	92		
DACH1	1602	broad.mit.edu	37	13	72146982	72146982	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr13:72146982G>C	ENST00000359684.2	-	5	1450	c.1451C>G	c.(1450-1452)tCa>tGa	p.S484*	DACH1_ENST00000313174.7_Intron|DACH1_ENST00000305425.4_Nonsense_Mutation_p.S432*|DACH1_ENST00000354591.4_Intron			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	484					cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		CTTAATAACTGATGTCTCAAC	0.398																																						uc010thn.1		NaN																	0				breast(1)	1						c.(1288-1290)TCA>TGA		dachshund homolog 1 isoform a							89.0	89.0	89.0					13																	72146982		1987	4183	6170	SO:0001587	stop_gained	1602				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	g.chr13:72146982G>C	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.1451C>G	13.37:g.72146982G>C	ENSP00000352712:p.Ser484*					DACH1_uc010tho.1_Intron|DACH1_uc010thp.1_Intron	p.S430*	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN		GBM - Glioblastoma multiforme(99;0.00032)	5	1712	-		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)	482					D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Nonsense_Mutation	SNP	ENST00000359684.2	37	c.1289C>G		.	.	.	.	.	.	.	.	.	.	G	42	9.498192	0.99187	.	.	ENSG00000165659	ENST00000305425;ENST00000359684;ENST00000377826	.	.	.	5.72	5.72	0.89469	.	0.049579	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-10.68	19.8252	0.96614	0.0:0.0:1.0:0.0	.	.	.	.	X	432;484;484	.	ENSP00000304994:S432X	S	-	2	0	DACH1	71044983	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	9.290000	0.96065	2.859000	0.98148	0.591000	0.81541	TCA		0.398	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1		NM_004392		42	83	0	0	0	0.010771	0	42	83		
SLITRK5	26050	broad.mit.edu	37	13	88329086	88329086	+	Silent	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr13:88329086G>A	ENST00000325089.6	+	2	1662	c.1443G>A	c.(1441-1443)caG>caA	p.Q481Q	SLITRK5_ENST00000400028.3_Silent_p.Q240Q	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	481					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ATGGCCTGCAGAGCCTGCAGT	0.537																																						uc001vln.2		NaN																	0				ovary(2)|pancreas(2)|central_nervous_system(1)	5						c.(1441-1443)CAG>CAA		SLIT and NTRK-like family, member 5 precursor							68.0	70.0	69.0					13																	88329086		2203	4300	6503	SO:0001819	synonymous_variant	26050					integral to membrane		g.chr13:88329086G>A	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1443G>A	13.37:g.88329086G>A						SLITRK5_uc010tic.1_Silent_p.Q240Q	p.Q481Q	NM_015567	NP_056382	O94991	SLIK5_HUMAN			2	1662	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		481			Extracellular (Potential).		B3KNB8|B4DSH5|Q5VT81	Silent	SNP	ENST00000325089.6	37	c.1443G>A	CCDS9465.1																																																																																				0.537	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3				49	70	0	0	0	0.01441	0	49	70		
GPC5	2262	broad.mit.edu	37	13	92797155	92797155	+	Missense_Mutation	SNP	G	G	A	rs143874024		TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr13:92797155G>A	ENST00000377067.3	+	7	1846	c.1474G>A	c.(1474-1476)Gaa>Aaa	p.E492K		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	492					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				AGGCATGGTTGAACAAGTCAG	0.468																																						uc010tif.1		NaN																	0				ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5						c.(1474-1476)GAA>AAA		glypican 5 precursor							187.0	161.0	170.0					13																	92797155		2203	4300	6503	SO:0001583	missense	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:92797155G>A	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.1474G>A	13.37:g.92797155G>A	ENSP00000366267:p.Glu492Lys						p.E492K	NM_004466	NP_004457	P78333	GPC5_HUMAN			7	1840	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	492					B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	c.1474G>A	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.986256	0.74589	.	.	ENSG00000179399	ENST00000377067	T	0.50548	0.74	5.83	5.83	0.93111	.	0.294214	0.36234	N	0.002706	T	0.57431	0.2053	L	0.56769	1.78	0.35505	D	0.800118	P	0.50819	0.939	P	0.51453	0.67	T	0.65829	-0.6073	10	0.49607	T	0.09	0.0073	17.2722	0.87105	0.0:0.0:1.0:0.0	.	492	P78333	GPC5_HUMAN	K	492	ENSP00000366267:E492K	ENSP00000366267:E492K	E	+	1	0	GPC5	91595156	1.000000	0.71417	0.128000	0.21923	0.580000	0.36256	6.153000	0.71819	2.757000	0.94681	0.563000	0.77884	GAA		0.468	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1		NM_004466		48	91	0	0	0	0.01441	0	48	91		
TMEM255B	348013	broad.mit.edu	37	13	114498181	114498181	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr13:114498181G>A	ENST00000375353.3	+	4	340	c.313G>A	c.(313-315)Gtg>Atg	p.V105M		NM_182614.2	NP_872420.1	Q8WV15	T255B_HUMAN	transmembrane protein 255B	105						integral component of membrane (GO:0016021)											CTGCGCCATCGTGGACGGCGT	0.527																																						uc001vuh.2		NaN																	0					0						c.(313-315)GTG>ATG		family with sequence similarity 70, member B							106.0	86.0	93.0					13																	114498181		2203	4300	6503	SO:0001583	missense	348013					integral to membrane		g.chr13:114498181G>A	BC018995	CCDS45071.1	13q34	2012-11-30	2012-11-30	2012-11-30	ENSG00000184497	ENSG00000184497			28297	protein-coding gene	gene with protein product			"""family with sequence similarity 70, member B"""	FAM70B		12477932	Standard	NM_182614		Approved	MGC20579	uc001vuh.3	Q8WV15	OTTHUMG00000017398	ENST00000375353.3:c.313G>A	13.37:g.114498181G>A	ENSP00000364502:p.Val105Met						p.V105M	NM_182614	NP_872420	Q8WV15	FA70B_HUMAN	all cancers(43;0.181)		4	340	+	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	105			Helical; (Potential).			Missense_Mutation	SNP	ENST00000375353.3	37	c.313G>A	CCDS45071.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.038502	0.55003	.	.	ENSG00000184497	ENST00000375353;ENST00000375348	T;T	0.58652	0.32;0.32	4.06	4.06	0.47325	.	.	.	.	.	T	0.74846	0.3770	M	0.78456	2.415	0.80722	D	1	D	0.76494	0.999	D	0.68483	0.958	T	0.79933	-0.1594	9	0.87932	D	0	-20.422	15.0297	0.71696	0.0:0.0:1.0:0.0	.	105	Q8WV15	FA70B_HUMAN	M	105;113	ENSP00000364502:V105M;ENSP00000364497:V113M	ENSP00000364497:V113M	V	+	1	0	FAM70B	113615762	1.000000	0.71417	0.716000	0.30569	0.090000	0.18270	4.089000	0.57685	1.806000	0.52798	0.394000	0.25966	GTG		0.527	TMEM255B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045953.4		NM_182614		52	57	0	0	0	0.01441	0	52	57		
MIA2	117153	broad.mit.edu	37	14	39717074	39717074	+	Silent	SNP	T	T	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr14:39717074T>C	ENST00000280082.3	+	4	1495	c.1296T>C	c.(1294-1296)atT>atC	p.I432I	RP11-407N17.3_ENST00000553728.1_Silent_p.I432I|MIA2_ENST00000556784.1_Silent_p.I431I	NM_054024.3	NP_473365.3	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	432					cholesterol homeostasis (GO:0042632)|triglyceride homeostasis (GO:0070328)	endoplasmic reticulum exit site (GO:0070971)|extracellular region (GO:0005576)				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		CGATAAAAATTATAGAAACAG	0.318																																						uc001wux.2		NaN																	0				ovary(1)|breast(1)	2						c.(1294-1296)ATT>ATC		melanoma inhibitory activity 2							54.0	62.0	59.0					14																	39717074		2202	4299	6501	SO:0001819	synonymous_variant	117153					extracellular region		g.chr14:39717074T>C	BC035981	CCDS9672.1	14q13.2	2007-05-01			ENSG00000150526	ENSG00000150526			18432	protein-coding gene	gene with protein product		608001				12586826	Standard	NM_054024		Approved	FLJ22404	uc001wux.3	Q96PC5	OTTHUMG00000028831	ENST00000280082.3:c.1296T>C	14.37:g.39717074T>C						MIA2_uc010amy.1_Silent_p.I363I	p.I432I	NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)	4	1490	+	Hepatocellular(127;0.213)		432					A1L4H0|Q9H6C1	Silent	SNP	ENST00000280082.3	37	c.1296T>C	CCDS9672.1																																																																																				0.318	MIA2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276768.3		NM_054024		54	74	0	0	0	0.01441	0	54	74		
ARID4A	5926	broad.mit.edu	37	14	58831658	58831658	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr14:58831658C>G	ENST00000355431.3	+	20	3224	c.2851C>G	c.(2851-2853)Ctg>Gtg	p.L951V	ARID4A_ENST00000348476.3_Missense_Mutation_p.L951V|ARID4A_ENST00000431317.2_Missense_Mutation_p.L951V|ARID4A_ENST00000395168.3_Missense_Mutation_p.L951V	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	951	Retinoblastoma protein binding. {ECO:0000255}.				erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TGCAATGCCTCTGATCGGGCC	0.408																																						uc001xdp.2		NaN																	0				ovary(3)|skin(2)|lung(1)	6						c.(2851-2853)CTG>GTG		retinoblastoma-binding protein 1 isoform I							102.0	100.0	101.0					14																	58831658		2203	4300	6503	SO:0001583	missense	5926				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:58831658C>G	S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.2851C>G	14.37:g.58831658C>G	ENSP00000347602:p.Leu951Val					ARID4A_uc001xdo.2_Missense_Mutation_p.L951V|ARID4A_uc001xdq.2_Missense_Mutation_p.L951V|ARID4A_uc010apg.1_Missense_Mutation_p.L629V	p.L951V	NM_002892	NP_002883	P29374	ARI4A_HUMAN			20	3105	+			951			Retinoblastoma protein binding (Potential).		Q15991|Q15992|Q15993	Missense_Mutation	SNP	ENST00000355431.3	37	c.2851C>G	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	C	10.77	1.444832	0.25987	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000431317;ENST00000417477	T;T;T;T;T	0.14516	2.52;2.53;2.52;2.53;2.5	5.68	4.79	0.61399	.	0.582772	0.15825	N	0.242814	T	0.10895	0.0266	L	0.47716	1.5	0.26499	N	0.974804	P;P;P	0.45827	0.867;0.501;0.763	B;B;B	0.35770	0.21;0.073;0.153	T	0.15954	-1.0419	10	0.25106	T	0.35	-6.5013	9.3225	0.37973	0.1441:0.7836:0.0:0.0723	.	951;951;951	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	V	951;951;951;951;629	ENSP00000347602:L951V;ENSP00000344556:L951V;ENSP00000378597:L951V;ENSP00000397368:L951V;ENSP00000416053:L629V	ENSP00000344556:L951V	L	+	1	2	ARID4A	57901411	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.189000	0.50965	1.402000	0.46780	0.557000	0.71058	CTG		0.408	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2		NM_023001		57	125	0	0	0	0.01441	0	57	125		
SNAPC1	6617	broad.mit.edu	37	14	62244847	62244847	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr14:62244847C>G	ENST00000216294.4	+	6	855	c.751C>G	c.(751-753)Caa>Gaa	p.Q251E	RP11-618G20.1_ENST00000555937.1_RNA	NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex, polypeptide 1, 43kDa	251	SNAPC4-binding.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		AGGAAATTCACAAGAAACGGA	0.333																																					NSCLC(27;223 907 37180 39193 46568)	uc001xft.2		NaN																	0					0						c.(751-753)CAA>GAA		small nuclear RNA activating complex,							91.0	89.0	89.0					14																	62244847		2203	4300	6503	SO:0001583	missense	6617				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr14:62244847C>G	Z47542	CCDS9755.1	14q22	2008-08-11	2002-08-29		ENSG00000023608	ENSG00000023608			11134	protein-coding gene	gene with protein product		600591	"""small nuclear RNA activating complex, polypeptide 1, 43kD"""			9644240	Standard	NM_003082		Approved	SNAP43, PTFgamma	uc001xft.3	Q16533	OTTHUMG00000140343	ENST00000216294.4:c.751C>G	14.37:g.62244847C>G	ENSP00000216294:p.Gln251Glu						p.Q251E	NM_003082	NP_003073	Q16533	SNPC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)	6	855	+			251			SNAPC4-binding.			Missense_Mutation	SNP	ENST00000216294.4	37	c.751C>G	CCDS9755.1	.	.	.	.	.	.	.	.	.	.	C	3.200	-0.163905	0.06502	.	.	ENSG00000023608	ENST00000216294	.	.	.	5.64	3.76	0.43208	.	0.476982	0.23973	N	0.042749	T	0.25232	0.0613	L	0.28192	0.835	0.23624	N	0.997269	B	0.09022	0.002	B	0.06405	0.002	T	0.21415	-1.0246	9	0.10636	T	0.68	-17.837	8.6575	0.34073	0.2973:0.5486:0.154:0.0	.	251	Q16533	SNPC1_HUMAN	E	251	.	ENSP00000216294:Q251E	Q	+	1	0	SNAPC1	61314600	0.775000	0.28604	0.204000	0.23530	0.141000	0.21300	1.628000	0.37060	0.799000	0.34018	0.563000	0.77884	CAA		0.333	SNAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276976.2		NM_003082		18	48	0	0	0	0.010504	0	18	48		
VTI1B	10490	broad.mit.edu	37	14	68123177	68123177	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr14:68123177C>T	ENST00000554659.1	-	4	837	c.496G>A	c.(496-498)Gag>Aag	p.E166K	5S_rRNA_ENST00000607639.1_RNA	NM_006370.2	NP_006361.1	Q9UEU0	VTI1B_HUMAN	vesicle transport through interaction with t-SNAREs 1B	166					cell proliferation (GO:0008283)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)|synaptic vesicle (GO:0008021)	SNARE binding (GO:0000149)			endometrium(1)|large_intestine(2)|stomach(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.000344)|OV - Ovarian serous cystadenocarcinoma(108;0.00212)|BRCA - Breast invasive adenocarcinoma(234;0.00941)		TCCCCCAGCTCTTCTATGATT	0.522																																						uc001xjt.2		NaN																	0					0						c.(496-498)GAG>AAG		vesicle transport through interaction with							158.0	154.0	155.0					14																	68123177		2203	4300	6503	SO:0001583	missense	10490				cell proliferation|cellular membrane fusion|intracellular protein transport|vesicle docking involved in exocytosis	endomembrane system|integral to membrane		g.chr14:68123177C>T	AF060902	CCDS9786.1	14q23.3	2012-12-10	2012-12-10		ENSG00000100568	ENSG00000100568			17793	protein-coding gene	gene with protein product		603207	"""vesicle transport through interaction with t-SNAREs homolog 1B (yeast)"""			9636656, 9446565	Standard	NM_006370		Approved	VTI2	uc001xjt.3	Q9UEU0	OTTHUMG00000171251	ENST00000554659.1:c.496G>A	14.37:g.68123177C>T	ENSP00000450731:p.Glu166Lys					VTI1B_uc010aqp.2_Missense_Mutation_p.E105K|VTI1B_uc001xju.2_Missense_Mutation_p.E125K	p.E166K	NM_006370	NP_006361	Q9UEU0	VTI1B_HUMAN		all cancers(60;0.000344)|OV - Ovarian serous cystadenocarcinoma(108;0.00212)|BRCA - Breast invasive adenocarcinoma(234;0.00941)	4	892	-			166			Potential.|Cytoplasmic (Potential).		O43547|Q96J28	Missense_Mutation	SNP	ENST00000554659.1	37	c.496G>A	CCDS9786.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.896041|5.896041	0.97081|0.97081	.|.	.|.	ENSG00000100568|ENSG00000100568	ENST00000554659|ENST00000554636;ENST00000556461	T|.	0.76186|.	-1.0|.	5.49|5.49	5.49|5.49	0.81192|0.81192	Target SNARE coiled-coil domain (1);|.	0.099243|.	0.64402|.	D|.	0.000002|.	T|T	0.79275|0.79275	0.4418|0.4418	M|M	0.79926|0.79926	2.475|2.475	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	T|T	0.78723|0.78723	-0.2093|-0.2093	10|5	0.72032|.	D|.	0.01|.	.|.	19.5721|19.5721	0.95425|0.95425	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	166;166|.	A8K6M4;Q9UEU0|.	.;VTI1B_HUMAN|.	K|K	166|64;82	ENSP00000450731:E166K|.	ENSP00000216456:E166K|.	E|R	-|-	1|2	0|0	VTI1B|VTI1B	67192930|67192930	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.499000|7.499000	0.81566|0.81566	2.857000|2.857000	0.98124|0.98124	0.650000|0.650000	0.86243|0.86243	GAG|AGA		0.522	VTI1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412558.2				86	168	0	0	0	0.01441	0	86	168		
CATSPERB	79820	broad.mit.edu	37	14	92074642	92074642	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr14:92074642G>A	ENST00000256343.3	-	22	2861	c.2705C>T	c.(2704-2706)tCa>tTa	p.S902L		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	902					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				ATTTACCTTTGACATGTGAAA	0.308																																						uc001xzs.1		NaN																	0				breast(2)|skin(2)|ovary(1)	5						c.(2704-2706)TCA>TTA		cation channel, sperm-associated, beta							101.0	106.0	104.0					14																	92074642		2203	4299	6502	SO:0001583	missense	79820				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr14:92074642G>A	AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"""chromosome 14 open reading frame 161"", ""cation channel, sperm-associated, beta"""	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.2705C>T	14.37:g.92074642G>A	ENSP00000256343:p.Ser902Leu					CATSPERB_uc010aub.1_Missense_Mutation_p.S424L	p.S902L	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN			22	2845	-		all_cancers(154;0.0663)|all_epithelial(191;0.236)	902					A0AV51	Missense_Mutation	SNP	ENST00000256343.3	37	c.2705C>T	CCDS32142.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.936909	0.52972	.	.	ENSG00000133962	ENST00000256343	T	0.60920	0.15	5.28	5.28	0.74379	.	0.302993	0.23849	N	0.043977	T	0.73830	0.3637	M	0.62723	1.935	0.41370	D	0.987481	D	0.89917	1.0	D	0.87578	0.998	T	0.76016	-0.3113	10	0.72032	D	0.01	-11.1367	16.1791	0.81887	0.0:0.0:1.0:0.0	.	902	Q9H7T0	CTSRB_HUMAN	L	902	ENSP00000256343:S902L	ENSP00000256343:S902L	S	-	2	0	CATSPERB	91144395	1.000000	0.71417	0.998000	0.56505	0.207000	0.24258	5.739000	0.68622	2.633000	0.89246	0.650000	0.86243	TCA		0.308	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1		NM_024764		27	51	0	0	0	0.009535	0	27	51		
CATSPERB	79820	broad.mit.edu	37	14	92074649	92074649	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr14:92074649G>A	ENST00000256343.3	-	22	2854	c.2698C>T	c.(2698-2700)Cac>Tac	p.H900Y		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	900					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TTTGACATGTGAAACATGTTT	0.299																																						uc001xzs.1		NaN																	0				breast(2)|skin(2)|ovary(1)	5						c.(2698-2700)CAC>TAC		cation channel, sperm-associated, beta							111.0	115.0	114.0					14																	92074649		2203	4299	6502	SO:0001583	missense	79820				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr14:92074649G>A	AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"""chromosome 14 open reading frame 161"", ""cation channel, sperm-associated, beta"""	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.2698C>T	14.37:g.92074649G>A	ENSP00000256343:p.His900Tyr					CATSPERB_uc010aub.1_Missense_Mutation_p.H422Y	p.H900Y	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN			22	2838	-		all_cancers(154;0.0663)|all_epithelial(191;0.236)	900					A0AV51	Missense_Mutation	SNP	ENST00000256343.3	37	c.2698C>T	CCDS32142.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.542739	0.00142	.	.	ENSG00000133962	ENST00000256343	T	0.42513	0.97	5.28	2.25	0.28309	.	0.833086	0.10554	N	0.661121	T	0.22244	0.0536	N	0.25647	0.755	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.33343	-0.9872	10	0.02654	T	1	0.091	4.025	0.09683	0.2796:0.0:0.5581:0.1623	.	900	Q9H7T0	CTSRB_HUMAN	Y	900	ENSP00000256343:H900Y	ENSP00000256343:H900Y	H	-	1	0	CATSPERB	91144402	0.018000	0.18449	0.007000	0.13788	0.140000	0.21249	0.032000	0.13732	0.242000	0.21303	-0.355000	0.07637	CAC		0.299	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1		NM_024764		29	54	0	0	0	0.013726	0	29	54		
UNC79	57578	broad.mit.edu	37	14	94155051	94155051	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr14:94155051C>A	ENST00000393151.2	+	45	7067	c.7067C>A	c.(7066-7068)aCc>aAc	p.T2356N	UNC79_ENST00000555664.1_Missense_Mutation_p.T2317N|UNC79_ENST00000553484.1_Missense_Mutation_p.T2378N|UNC79_ENST00000256339.4_Missense_Mutation_p.T2179N			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2356					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CATGAAGATACCTTTGGGGGA	0.502																																						uc001ybv.1		NaN																	0				ovary(10)|skin(4)|large_intestine(3)	17						c.(6601-6603)ACC>AAC		hypothetical protein LOC57578							88.0	83.0	85.0					14																	94155051		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94155051C>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.7067C>A	14.37:g.94155051C>A	ENSP00000376858:p.Thr2356Asn					KIAA1409_uc001ybs.1_Missense_Mutation_p.T2179N	p.T2201N	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	43	6685	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	2356					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.6602C>A		.	.	.	.	.	.	.	.	.	.	C	29.6	5.021160	0.93462	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.27402	1.67;1.72;1.67;1.67	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.56761	0.2007	M	0.67397	2.05	0.58432	D	0.999999	D	0.65815	0.995	D	0.73708	0.981	T	0.57470	-0.7806	10	0.87932	D	0	-9.4875	19.7917	0.96461	0.0:1.0:0.0:0.0	.	2378	C9JQL1	.	N	2179;2317;2378;2356;2378	ENSP00000256339:T2179N;ENSP00000450868:T2317N;ENSP00000451360:T2378N;ENSP00000376858:T2356N	ENSP00000256339:T2179N	T	+	2	0	KIAA1409	93224804	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.756000	0.85195	2.755000	0.94549	0.561000	0.74099	ACC		0.502	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1		XM_028395		38	69	1	0	1.60099e-16	0.004878	1.71719e-16	38	69		
PPP4R4	57718	broad.mit.edu	37	14	94711948	94711948	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr14:94711948C>T	ENST00000304338.3	+	13	1523	c.1369C>T	c.(1369-1371)Ctt>Ttt	p.L457F		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	457					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TATAGATCATCTTCCAGAAAT	0.308																																						uc001ycs.1		NaN																	0				skin(3)|upper_aerodigestive_tract(1)	4						c.(1369-1371)CTT>TTT		HEAT-like repeat-containing protein isoform 1							96.0	98.0	98.0					14																	94711948		2203	4299	6502	SO:0001583	missense	57718					cytoplasm|protein serine/threonine phosphatase complex	protein binding	g.chr14:94711948C>T	AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	23788	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 14"""		"""KIAA1622"""	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.1369C>T	14.37:g.94711948C>T	ENSP00000305924:p.Leu457Phe						p.L457F	NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN			13	1523	+			457					Q9BUF8|Q9HCF0	Missense_Mutation	SNP	ENST00000304338.3	37	c.1369C>T	CCDS9921.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.069446	0.76301	.	.	ENSG00000119698	ENST00000304338	T	0.52057	0.68	5.54	5.54	0.83059	Armadillo-like helical (1);Armadillo-type fold (1);	0.058257	0.64402	D	0.000001	T	0.66752	0.2821	M	0.73962	2.25	0.80722	D	1	D	0.65815	0.995	D	0.65323	0.934	T	0.69187	-0.5211	10	0.72032	D	0.01	-16.6816	14.6697	0.68934	0.1453:0.8547:0.0:0.0	.	457	Q6NUP7	PP4R4_HUMAN	F	457	ENSP00000305924:L457F	ENSP00000305924:L457F	L	+	1	0	PPP4R4	93781701	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.606000	0.54095	2.776000	0.95493	0.650000	0.86243	CTT		0.308	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413056.1		NM_058237		66	90	0	0	0	0.01441	0	66	90		
OCA2	4948	broad.mit.edu	37	15	28231760	28231760	+	Silent	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr15:28231760C>T	ENST00000354638.3	-	12	1367	c.1212G>A	c.(1210-1212)acG>acA	p.T404T	OCA2_ENST00000353809.5_Silent_p.T380T|OCA2_ENST00000382996.2_Silent_p.T404T	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	404			T -> M (in OCA2; dbSNP:rs144812594).		cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)	p.T404T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CGAAAAATCCCGTTTCTGAAA	0.303									Oculocutaneous Albinism																													uc001zbh.3		NaN																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(1)|pancreas(1)	5						c.(1210-1212)ACG>ACA		oculocutaneous albinism II							93.0	101.0	98.0					15																	28231760		2203	4300	6503	SO:0001819	synonymous_variant	4948	Oculocutaneous_Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28231760C>T		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1212G>A	15.37:g.28231760C>T						OCA2_uc010ayv.2_Silent_p.T380T	p.T404T	NM_000275	NP_000266	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	12	1322	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	404		T -> M (in OCA2).	Cytoplasmic (Potential).		Q15211|Q15212|Q96EN1|Q9UMI5	Silent	SNP	ENST00000354638.3	37	c.1212G>A	CCDS10020.1																																																																																				0.303	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1		NM_000275		67	132	0	0	0	0.01441	0	67	132		
FAN1	22909	broad.mit.edu	37	15	31197051	31197051	+	Missense_Mutation	SNP	A	A	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr15:31197051A>G	ENST00000362065.4	+	2	476	c.185A>G	c.(184-186)gAa>gGa	p.E62G	FAN1_ENST00000565466.1_Missense_Mutation_p.E62G|FAN1_ENST00000561607.1_Missense_Mutation_p.E62G|FAN1_ENST00000561594.1_Missense_Mutation_p.E62G	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	62					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						CACCTTGATGAAATGTGTGCT	0.403								Direct reversal of damage																														uc001zff.2		NaN																	0					0						c.(184-186)GAA>GGA	Direct_reversal_of_damage|Editing_and_processing_nucleases	myotubularin related protein 15 isoform a							83.0	82.0	82.0					15																	31197051		2202	4300	6502	SO:0001583	missense	22909				double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding	g.chr15:31197051A>G		CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"""KIAA1018"", ""myotubularin related protein 15"""	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.185A>G	15.37:g.31197051A>G	ENSP00000354497:p.Glu62Gly					MTMR15_uc001zfc.3_Missense_Mutation_p.E62G|MTMR15_uc010azw.2_Missense_Mutation_p.E62G|MTMR15_uc001zfd.3_Missense_Mutation_p.E62G|MTMR15_uc001zfe.2_5'UTR	p.E62G	NM_014967	NP_055782	Q9Y2M0	FAN1_HUMAN		all cancers(64;4.72e-15)|Epithelial(43;5.4e-11)|GBM - Glioblastoma multiforme(186;0.000136)|BRCA - Breast invasive adenocarcinoma(123;0.00402)|Lung(196;0.168)	2	476	+		all_lung(180;2.23e-09)	62			UBZ-type.		A8K4M2|Q86WU8	Missense_Mutation	SNP	ENST00000362065.4	37	c.185A>G	CCDS32186.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.942215	0.73672	.	.	ENSG00000198690	ENST00000362065	D	0.82344	-1.6	5.15	3.94	0.45596	Zinc finger, Rad18-type putative (1);	0.388934	0.28940	N	0.013652	D	0.83977	0.5371	M	0.61703	1.905	0.36888	D	0.889761	P;P	0.49559	0.483;0.925	B;P	0.49752	0.058;0.621	D	0.87761	0.2598	10	0.59425	D	0.04	-15.9519	11.9244	0.52810	0.8548:0.1452:0.0:0.0	.	62;62	Q9Y2M0;Q9Y2M0-2	FAN1_HUMAN;.	G	62	ENSP00000354497:E62G	ENSP00000354497:E62G	E	+	2	0	FAN1	28984343	0.947000	0.32204	0.199000	0.23439	0.933000	0.57130	2.090000	0.41682	2.077000	0.62373	0.374000	0.22700	GAA		0.403	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430740.1		NM_014967		17	60	0	0	0	0.00499	0	17	60		
RYR3	6263	broad.mit.edu	37	15	33795931	33795931	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr15:33795931G>A	ENST00000389232.4	+	3	341	c.271G>A	c.(271-273)Ggc>Agc	p.G91S	RYR3_ENST00000415757.3_Missense_Mutation_p.G91S	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	91					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGAAAATGGCGGCGAAGGGGT	0.483																																						uc001zhi.2		NaN																	0				ovary(5)|central_nervous_system(4)|lung(1)	10						c.(271-273)GGC>AGC		ryanodine receptor 3							45.0	47.0	47.0					15																	33795931		1906	4128	6034	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33795931G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.271G>A	15.37:g.33795931G>A	ENSP00000373884:p.Gly91Ser					RYR3_uc010bar.2_Missense_Mutation_p.G91S	p.G91S	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	3	341	+		all_lung(180;7.18e-09)	91			Cytoplasmic (By similarity).		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.271G>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.046216	0.36085	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.98178	-4.77;-4.77	5.5	2.15	0.27550	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);	0.399541	0.22217	N	0.063020	D	0.91408	0.7289	N	0.08118	0	0.32465	N	0.543638	B;B	0.15141	0.012;0.003	B;B	0.11329	0.006;0.001	D	0.86200	0.1618	10	0.08381	T	0.77	.	6.1512	0.20313	0.4593:0.0:0.5407:0.0	.	91;91	Q15413-2;Q15413	.;RYR3_HUMAN	S	91	ENSP00000373884:G91S;ENSP00000399610:G91S	ENSP00000354735:G91S	G	+	1	0	RYR3	31583223	0.993000	0.37304	0.922000	0.36590	0.997000	0.91878	2.530000	0.45641	0.758000	0.33059	0.655000	0.94253	GGC		0.483	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1				4	15	0	0	0	0.001168	0	4	15		
BUB1B	701	broad.mit.edu	37	15	40488917	40488917	+	Missense_Mutation	SNP	C	C	G	rs61733369	byFrequency	TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr15:40488917C>G	ENST00000287598.6	+	9	1425	c.1230C>G	c.(1228-1230)ttC>ttG	p.F410L	BUB1B_ENST00000412359.3_Missense_Mutation_p.F424L	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	410					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TAGGGGAATTCTCCTTTGAAG	0.408			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																													uc001zkx.3		NaN	yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	Mis|N|F|S	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)			M		rhabdomyosarcoma			0				stomach(2)|ovary(1)|kidney(1)	4						c.(1228-1230)TTC>TTG		budding uninhibited by benzimidazoles 1 beta							101.0	102.0	102.0					15																	40488917		2203	4300	6503	SO:0001583	missense	701	Mosaic_Variegated_Aneuploidy_Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40488917C>G	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"""budding uninhibited by benzimidazoles 1 (yeast homolog), beta"", ""budding uninhibited by benzimidazoles 1 homolog beta (yeast)"""			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.1230C>G	15.37:g.40488917C>G	ENSP00000287598:p.Phe410Leu					BUB1B_uc010ucl.1_Missense_Mutation_p.F273L	p.F410L	NM_001211	NP_001202	O60566	BUB1B_HUMAN		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)	9	1442	+		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	410					B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Missense_Mutation	SNP	ENST00000287598.6	37	c.1230C>G	CCDS10053.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.095218	0.76870	.	.	ENSG00000156970	ENST00000287598;ENST00000412359;ENST00000442874	T;T	0.15487	2.43;2.42	5.58	3.7	0.42460	.	0.000000	0.85682	D	0.000000	T	0.28333	0.0700	L	0.51914	1.62	0.42171	D	0.99164	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.18335	-1.0340	10	0.02654	T	1	-13.0995	11.6799	0.51451	0.0:0.8573:0.0:0.1427	.	424;410	O60566-3;O60566	.;BUB1B_HUMAN	L	410;424;356	ENSP00000287598:F410L;ENSP00000398470:F424L	ENSP00000287598:F410L	F	+	3	2	BUB1B	38276209	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.211000	0.32382	0.720000	0.32209	0.561000	0.74099	TTC		0.408	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4				51	94	0	0	0	0.01441	0	51	94		
SLC27A2	11001	broad.mit.edu	37	15	50519375	50519375	+	Splice_Site	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr15:50519375G>A	ENST00000267842.5	+	7	1689	c.1457G>A	c.(1456-1458)cGg>cAg	p.R486Q	SLC27A2_ENST00000544960.1_Splice_Site_p.R251Q|SLC27A2_ENST00000380902.4_Splice_Site_p.R433Q	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	486					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)|very long-chain fatty acid catabolic process (GO:0042760)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of peroxisomal membrane (GO:0005779)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|phytanate-CoA ligase activity (GO:0050197)|pristanate-CoA ligase activity (GO:0070251)|receptor binding (GO:0005102)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		GATACATTCCGGTTGGTTTTT	0.403																																						uc001zxw.2		NaN																	0				ovary(1)|skin(1)	2						c.(1456-1458)CGG>CAG		solute carrier family 27 (fatty acid							81.0	83.0	82.0					15																	50519375		2196	4295	6491	SO:0001630	splice_region_variant	11001				bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity	g.chr15:50519375G>A	D88308	CCDS10133.1, CCDS53943.1	15q21.2	2013-05-22			ENSG00000140284	ENSG00000140284		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10996	protein-coding gene	gene with protein product		603247		FACVL1		9730624	Standard	NM_003645		Approved	FATP2, hFACVL1, VLACS, VLCS, HsT17226, ACSVL1	uc001zxw.3	O14975	OTTHUMG00000131643	ENST00000267842.5:c.1457+1G>A	15.37:g.50519375G>A						SLC27A2_uc010bes.2_Missense_Mutation_p.R433Q|SLC27A2_uc001zxx.2_Missense_Mutation_p.R251Q	p.R486Q	NM_003645	NP_003636	O14975	S27A2_HUMAN		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)	7	1689	+		all_lung(180;0.00177)	486			Cytoplasmic (Potential).		A8K2J7|Q53FY6|Q6PF09	Missense_Mutation	SNP	ENST00000267842.5	37	c.1457G>A	CCDS10133.1	.	.	.	.	.	.	.	.	.	.	G	36	5.705227	0.96812	.	.	ENSG00000140284	ENST00000380902;ENST00000267842;ENST00000544960	T;T;T	0.50277	0.75;0.99;0.99	5.78	5.78	0.91487	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.81226	0.4778	H	0.98111	4.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87804	0.2627	10	0.87932	D	0	.	17.5141	0.87768	0.0:0.0:1.0:0.0	.	433;486	Q6PF09;O14975	.;S27A2_HUMAN	Q	433;486;251	ENSP00000370289:R433Q;ENSP00000267842:R486Q;ENSP00000444549:R251Q	ENSP00000267842:R486Q	R	+	2	0	SLC27A2	48306667	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.696000	0.84270	2.730000	0.93505	0.655000	0.94253	CGG		0.403	SLC27A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254539.2		NM_003645	Missense_Mutation	30	58	0	0	0	0.010818	0	30	58		
CPLX3	594855	broad.mit.edu	37	15	75122674	75122674	+	Silent	SNP	T	T	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr15:75122674T>C	ENST00000395018.4	+	3	613	c.456T>C	c.(454-456)gcT>gcC	p.A152A	RP11-414J4.2_ENST00000564823.1_RNA	NM_001030005.2	NP_001025176.1	Q8WVH0	CPLX3_HUMAN	complexin 3	152					insulin secretion (GO:0030073)|regulation of neurotransmitter secretion (GO:0046928)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)	neurotransmitter transporter activity (GO:0005326)			large_intestine(2)|lung(2)	4						AGCAATCAGCTGAGAAGTGTC	0.602																																						uc002ayu.1		NaN																	0					0						c.(454-456)GCT>GCC		complexin 3 precursor							58.0	45.0	50.0					15																	75122674		2197	4295	6492	SO:0001819	synonymous_variant	594855					cell junction|synapse	syntaxin binding	g.chr15:75122674T>C	BC018026	CCDS32294.1	15q24.1	2005-08-09			ENSG00000213578	ENSG00000213578			27652	protein-coding gene	gene with protein product		609585				15911881	Standard	NM_001030005		Approved	CPX-III	uc002ayu.1	Q8WVH0	OTTHUMG00000142816	ENST00000395018.4:c.456T>C	15.37:g.75122674T>C							p.A152A	NM_001030005	NP_001025176	Q8WVH0	CPLX3_HUMAN			3	550	+			152					D3DW66|Q8TEM6|Q9H818	Silent	SNP	ENST00000395018.4	37	c.456T>C	CCDS32294.1																																																																																				0.602	CPLX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286402.2		NM_001030005		14	29	0	0	0	0.00245	0	14	29		
RLBP1	6017	broad.mit.edu	37	15	89760379	89760379	+	Silent	SNP	G	G	A	rs535011979		TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr15:89760379G>A	ENST00000268125.5	-	5	757	c.318C>T	c.(316-318)aaC>aaT	p.N106N		NM_000326.4	NP_000317.1	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	106					phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	cell body (GO:0044297)|cytosol (GO:0005829)	11-cis retinal binding (GO:0005502)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	CACGGCCCACGTTGAACTTCC	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		18482	0.0		0.0	False		,,,				2504	0.001					uc002bnl.2		NaN																	0				central_nervous_system(1)	1						c.(316-318)AAC>AAT		retinaldehyde binding protein 1	Vitamin A(DB00162)						42.0	43.0	43.0					15																	89760379		2200	4299	6499	SO:0001819	synonymous_variant	6017				response to stimulus|visual perception|vitamin A metabolic process	cytoplasm|soluble fraction	retinol binding|transporter activity	g.chr15:89760379G>A	BC004199	CCDS32324.1	15q26.1	2007-07-16	2001-11-28			ENSG00000140522			10024	protein-coding gene	gene with protein product		180090	"""retinaldehyde-binding protein 1"""			1733864, 9326942	Standard	NM_000326		Approved	CRALBP	uc002bnl.3	P12271		ENST00000268125.5:c.318C>T	15.37:g.89760379G>A							p.N106N	NM_000326	NP_000317	P12271	RLBP1_HUMAN			5	698	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		106					B2R667	Silent	SNP	ENST00000268125.5	37	c.318C>T	CCDS32324.1																																																																																				0.657	RLBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421135.1		NM_000326		18	41	0	0	0	0.008871	0	18	41		
SETD1A	9739	broad.mit.edu	37	16	30995215	30995215	+	Silent	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr16:30995215G>A	ENST00000262519.8	+	19	5681	c.4995G>A	c.(4993-4995)aaG>aaA	p.K1665K	HSD3B7_ENST00000262520.6_5'Flank|HSD3B7_ENST00000353250.5_5'Flank|HSD3B7_ENST00000297679.5_5'Flank	NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1665	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CCCAGAAGAAGATCGTGATCT	0.582																																						uc002ead.1		NaN																	0				ovary(2)|skin(1)	3						c.(4993-4995)AAG>AAA		SET domain containing 1A							99.0	70.0	80.0					16																	30995215		2197	4300	6497	SO:0001819	synonymous_variant	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30995215G>A	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.4995G>A	16.37:g.30995215G>A						HSD3B7_uc002eaf.2_5'Flank|HSD3B7_uc010cac.2_5'Flank|HSD3B7_uc002eag.2_5'Flank|HSD3B7_uc002eah.2_5'Flank	p.K1665K	NM_014712	NP_055527	O15047	SET1A_HUMAN			19	5681	+			1665			SET.		A6NP62|Q6PIF3|Q8TAJ6	Silent	SNP	ENST00000262519.8	37	c.4995G>A	CCDS32435.1																																																																																				0.582	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2		NM_014712		11	14	0	0	0	0.010729	0	11	14		
ABCC12	94160	broad.mit.edu	37	16	48138177	48138177	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr16:48138177G>A	ENST00000311303.3	-	20	3121	c.2776C>T	c.(2776-2778)Cac>Tac	p.H926Y	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_Intron	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	926	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TTCTCTGCGTGAAACGGCAGC	0.488																																						uc002efc.1		NaN																	0				ovary(2)|skin(1)	3						c.(2776-2778)CAC>TAC		ATP-binding cassette protein C12							171.0	161.0	165.0					16																	48138177		2201	4300	6501	SO:0001583	missense	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48138177G>A	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.2776C>T	16.37:g.48138177G>A	ENSP00000311030:p.His926Tyr					ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_Intron|ABCC12_uc002efd.1_RNA	p.H926Y	NM_033226	NP_150229	Q96J65	MRP9_HUMAN			20	3122	-		all_cancers(37;0.0474)|all_lung(18;0.047)	926			ABC transmembrane type-1 2.		Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	c.2776C>T	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	G	2.594	-0.294566	0.05568	.	.	ENSG00000140798	ENST00000311303;ENST00000449939	D	0.89270	-2.49	5.55	5.55	0.83447	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.234363	0.44483	D	0.000443	D	0.82332	0.5014	L	0.39397	1.21	0.80722	D	1	B	0.12630	0.006	B	0.25987	0.065	T	0.72727	-0.4206	10	0.02654	T	1	.	12.0474	0.53487	0.0:0.0:0.8279:0.1721	.	926	Q96J65	MRP9_HUMAN	Y	926;844	ENSP00000311030:H926Y	ENSP00000311030:H926Y	H	-	1	0	ABCC12	46695678	1.000000	0.71417	0.800000	0.32199	0.952000	0.60782	1.318000	0.33643	2.594000	0.87642	0.655000	0.94253	CAC		0.488	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1		NM_033226		83	160	0	0	0	0.01441	0	83	160		
CA5A	763	broad.mit.edu	37	16	87921738	87921738	+	Silent	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr16:87921738G>A	ENST00000309893.2	-	7	980	c.915C>T	c.(913-915)tcC>tcT	p.S305S		NM_001739.1	NP_001730.1	P35218	CAH5A_HUMAN	carbonic anhydrase VA, mitochondrial	305					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(80;0.0513)	Brinzolamide(DB01194)|Zonisamide(DB00909)	AATGTCTCTAGGACCTTGTGC	0.458																																						uc002fkn.1		NaN																	0					0						c.(913-915)TCC>TCT		carbonic anhydrase VA, mitochondrial precursor							95.0	82.0	86.0					16																	87921738		2198	4300	6498	SO:0001819	synonymous_variant	763				one-carbon metabolic process	mitochondrial matrix	carbonate dehydratase activity|zinc ion binding	g.chr16:87921738G>A	L19297	CCDS10965.1	16q24.2	2012-08-21			ENSG00000174990	ENSG00000174990	4.2.1.1	"""Carbonic anhydrases"""	1377	protein-coding gene	gene with protein product		114761		CA5		8356065, 7490083	Standard	NM_001739		Approved	CAV, CAVA	uc002fkn.1	P35218	OTTHUMG00000137677	ENST00000309893.2:c.915C>T	16.37:g.87921738G>A							p.S305S	NM_001739	NP_001730	P35218	CAH5A_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0513)	7	971	-			305					B2RPF2	Silent	SNP	ENST00000309893.2	37	c.915C>T	CCDS10965.1																																																																																				0.458	CA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269164.1		NM_001739		41	66	0	0	0	0.01441	0	41	66		
TRPV3	162514	broad.mit.edu	37	17	3432259	3432259	+	Silent	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr17:3432259G>A	ENST00000576742.1	-	10	1594	c.1273C>T	c.(1273-1275)Ctg>Ttg	p.L425L	TRPV3_ENST00000301365.4_Silent_p.L425L|TRPV3_ENST00000572519.1_Silent_p.L425L	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	425					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	AGCGTGTGCAGCGGCTCCAGG	0.517																																						uc002fvt.1		NaN																	0				ovary(4)	4						c.(1273-1275)CTG>TTG		transient receptor potential cation channel,	Menthol(DB00825)						167.0	153.0	157.0					17																	3432259		2203	4300	6503	SO:0001819	synonymous_variant	162514					integral to membrane	calcium channel activity	g.chr17:3432259G>A	AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.1273C>T	17.37:g.3432259G>A						TRPV3_uc002fvs.1_RNA|TRPV3_uc010vrh.1_Silent_p.L409L|TRPV3_uc010vri.1_Silent_p.L380L|TRPV3_uc010vrj.1_Silent_p.L409L|TRPV3_uc010vrk.1_RNA|TRPV3_uc010vrl.1_Silent_p.L409L|TRPV3_uc010vrm.1_RNA|TRPV3_uc002fvr.2_Silent_p.L425L|TRPV3_uc002fvu.2_Silent_p.L425L|TRPV3_uc010vrn.1_Silent_p.L7L	p.L425L	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN			10	1595	-			425			Cytoplasmic (Potential).		Q8NDW7|Q8NET9|Q8NFH2	Silent	SNP	ENST00000576742.1	37	c.1273C>T	CCDS11029.1																																																																																				0.517	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2		NM_145068		111	164	0	0	0	0.01441	0	111	164		
WDR16	146845	broad.mit.edu	37	17	9545099	9545099	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr17:9545099C>T	ENST00000352665.5	+	13	1703	c.1634C>T	c.(1633-1635)tCt>tTt	p.S545F	RP11-55L4.2_ENST00000584676.1_RNA|WDR16_ENST00000299764.5_Missense_Mutation_p.S555F|WDR16_ENST00000396219.3_Missense_Mutation_p.S477F	NM_145054.4	NP_659491.4			WD repeat domain 16											NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						GGTTCCCTGTCTGGGTCGATA	0.463																																						uc002gly.2		NaN																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1633-1635)TCT>TTT		WD40-repeat protein upregulated in HCC isoform							119.0	117.0	118.0					17																	9545099		2203	4300	6503	SO:0001583	missense	146845					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr17:9545099C>T	AB065281	CCDS11149.2, CCDS42262.1	17p13.1	2014-08-01			ENSG00000166596	ENSG00000166596		"""WD repeat domain containing"""	16053	protein-coding gene	gene with protein product	"""WD40-repeat protein upregulated in HCC"""	609804				15967112	Standard	NM_001080556		Approved	WDRPUH, FLJ37528	uc002gly.3	Q8N1V2	OTTHUMG00000150149	ENST00000352665.5:c.1634C>T	17.37:g.9545099C>T	ENSP00000339449:p.Ser545Phe					WDR16_uc002glz.2_Missense_Mutation_p.S477F|WDR16_uc010coc.2_Missense_Mutation_p.S555F	p.S545F	NM_145054	NP_659491	Q8N1V2	WDR16_HUMAN			13	1703	+			545			WD 10.			Missense_Mutation	SNP	ENST00000352665.5	37	c.1634C>T	CCDS11149.2	.	.	.	.	.	.	.	.	.	.	C	15.68	2.906456	0.52333	.	.	ENSG00000166596	ENST00000352665;ENST00000396219;ENST00000299764	T;T;T	0.42513	0.97;2.71;2.15	5.59	5.59	0.84812	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.144192	0.64402	D	0.000004	T	0.51160	0.1658	M	0.82630	2.6	0.58432	D	0.999996	B;P;B	0.34934	0.193;0.476;0.117	B;B;B	0.33690	0.168;0.168;0.142	T	0.59209	-0.7497	10	0.87932	D	0	-17.9464	18.3834	0.90457	0.0:1.0:0.0:0.0	.	555;477;545	Q8N1V2-2;Q8N1V2-3;Q8N1V2	.;.;WDR16_HUMAN	F	545;477;555	ENSP00000339449:S545F;ENSP00000379521:S477F;ENSP00000299764:S555F	ENSP00000299764:S555F	S	+	2	0	WDR16	9485824	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	5.445000	0.66594	2.648000	0.89879	0.563000	0.77884	TCT		0.463	WDR16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316569.2		NM_145054		38	25	0	0	0	0.013114	0	38	25		
MYH13	8735	broad.mit.edu	37	17	10231294	10231294	+	Silent	SNP	A	A	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr17:10231294A>G	ENST00000418404.3	-	21	2743	c.2580T>C	c.(2578-2580)ttT>ttC	p.F860F	MYH13_ENST00000252172.4_Silent_p.F860F|RP11-401O9.3_ENST00000577743.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	860					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGGTCCTCTCAAAGTCTTCCT	0.547											OREG0024177	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002gmk.1		NaN																	0				ovary(4)|skin(2)	6						c.(2578-2580)TTT>TTC		myosin, heavy polypeptide 13, skeletal muscle							89.0	88.0	89.0					17																	10231294		2197	4300	6497	SO:0001819	synonymous_variant	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10231294A>G	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.2580T>C	17.37:g.10231294A>G			OREG0024177	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	663		p.F860F	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			22	2670	-			860			Potential.		O95252|Q9P0U8	Silent	SNP	ENST00000418404.3	37	c.2580T>C	CCDS45613.1																																																																																				0.547	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1		NM_003802		37	20	0	0	0	0.00623	0	37	20		
LRRC37B	114659	broad.mit.edu	37	17	30358451	30358451	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr17:30358451G>C	ENST00000341671.7	+	5	1955	c.1950G>C	c.(1948-1950)tgG>tgC	p.W650C	LRRC37B_ENST00000584368.1_Intron|LRRC37B_ENST00000394713.3_Intron|LRRC37B_ENST00000543378.2_Missense_Mutation_p.W568C|LRRC37B_ENST00000327564.7_Missense_Mutation_p.W677C	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	650						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				TTCAGGCCTGGCACGGAATGC	0.328																																						uc002hgu.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1948-1950)TGG>TGC		leucine rich repeat containing 37B precursor							30.0	34.0	33.0					17																	30358451		2196	4294	6490	SO:0001583	missense	114659					integral to membrane		g.chr17:30358451G>C	AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"""KIAA0563-related"""					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.1950G>C	17.37:g.30358451G>C	ENSP00000340519:p.Trp650Cys					LRRC37B_uc010wbx.1_Missense_Mutation_p.W568C|LRRC37B_uc010csu.2_Intron	p.W650C	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN			5	1961	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)	650			Extracellular (Potential).		Q17RC9|Q5YKG6	Missense_Mutation	SNP	ENST00000341671.7	37	c.1950G>C	CCDS32609.1	.	.	.	.	.	.	.	.	.	.	N	10.54	1.379268	0.24944	.	.	ENSG00000185158	ENST00000543378;ENST00000327564;ENST00000341671	T;T;T	0.67171	-0.2;-0.25;-0.25	2.36	2.36	0.29203	.	.	.	.	.	T	0.63510	0.2517	N	0.11818	0.18	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.66217	-0.5979	9	0.87932	D	0	.	8.3832	0.32483	0.0:0.0:1.0:0.0	.	650	Q96QE4	LR37B_HUMAN	C	568;677;650	ENSP00000443345:W568C;ENSP00000332536:W677C;ENSP00000340519:W650C	ENSP00000332536:W677C	W	+	3	0	LRRC37B	27382564	1.000000	0.71417	1.000000	0.80357	0.452000	0.32318	2.642000	0.46596	1.632000	0.50472	0.448000	0.29417	TGG		0.328	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1		NM_052888		16	145	0	0	0	0.00333	0	16	145		
ZNF830	91603	broad.mit.edu	37	17	33289624	33289624	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr17:33289624G>C	ENST00000361952.3	+	1	1076	c.1039G>C	c.(1039-1041)Gag>Cag	p.E347Q	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	347					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)				AAAGGAAGAAGAGAATGCTGA	0.423																																						uc002hih.3		NaN																	0				breast(1)	1						c.(1039-1041)GAG>CAG		coiled-coil domain containing 16							96.0	115.0	109.0					17																	33289624		2190	4287	6477	SO:0001583	missense	91603				cell division|mitosis	cytoplasm|nucleus	metal ion binding	g.chr17:33289624G>C	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.1039G>C	17.37:g.33289624G>C	ENSP00000354518:p.Glu347Gln					CCT6B_uc002hig.2_5'Flank|CCT6B_uc010ctg.2_5'Flank|CCT6B_uc010wcc.1_5'Flank	p.E347Q	NM_052857	NP_443089	Q96NB3	ZN830_HUMAN			1	1076	+		Ovarian(249;0.17)	347			Potential.		Q96F60|Q96GZ5|Q9BU38	Missense_Mutation	SNP	ENST00000361952.3	37	c.1039G>C	CCDS32618.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.231642	0.79688	.	.	ENSG00000198783	ENST00000361952	T	0.16324	2.35	6.01	6.01	0.97437	.	0.205916	0.42821	D	0.000643	T	0.37433	0.1003	M	0.63428	1.95	0.58432	D	0.999999	D	0.64830	0.994	D	0.63703	0.917	T	0.00715	-1.1597	10	0.39692	T	0.17	-11.4442	16.0183	0.80460	0.0:0.0:1.0:0.0	.	347	Q96NB3	ZN830_HUMAN	Q	347	ENSP00000354518:E347Q	ENSP00000354518:E347Q	E	+	1	0	ZNF830	30313737	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	3.483000	0.53194	2.860000	0.98153	0.655000	0.94253	GAG		0.423	ZNF830-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448018.1		NM_052857		104	68	0	0	0	0.01441	0	104	68		
C17orf50	146853	broad.mit.edu	37	17	34094869	34094869	+	IGR	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr17:34094869G>C	ENST00000285023.4	+	0	1018					NM_145272.3	NP_660315.2	Q8WW18	CQ050_HUMAN	chromosome 17 open reading frame 50														Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACGGGGCTCTGAGACGTTGCC	0.527																																						uc002hjy.1		NaN																	0				skin(1)	1						c.(1069-1071)TCA>TGA		matrix metalloproteinase 28 isoform 1							31.0	33.0	32.0					17																	34094869		1968	4157	6125	SO:0001628	intergenic_variant	79148				proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr17:34094869G>C	BC021727	CCDS42298.1	17q12	2014-05-06			ENSG00000154768	ENSG00000270806			29581	protein-coding gene	gene with protein product							Standard	NM_145272		Approved		uc002hjx.3	Q8WW18	OTTHUMG00000188389		17.37:g.34094869G>C						MMP28_uc002hjw.1_RNA|MMP28_uc002hjz.1_RNA	p.S357*	NM_024302	NP_077278	Q9H239	MMP28_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	9	1329	-		Ovarian(249;0.17)	357			Hemopexin-like 1.		Q6Q621	Nonsense_Mutation	SNP	ENST00000285023.4	37	c.1070C>G	CCDS42298.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.721101	0.48728	.	.	ENSG00000129270	ENST00000338839;ENST00000538544	.	.	.	5.35	5.35	0.76521	.	0.502138	0.21081	N	0.080489	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	14.8022	0.69924	0.0:0.1548:0.8452:0.0	.	.	.	.	X	356	.	ENSP00000340652:S356X	S	-	2	0	MMP28	31118982	1.000000	0.71417	1.000000	0.80357	0.494000	0.33585	5.180000	0.65048	2.655000	0.90218	0.655000	0.94253	TCA		0.527	C17orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449132.1		NM_145272		15	26	0	0	0	0.007413	0	15	26		
CDK12	51755	broad.mit.edu	37	17	37687065	37687065	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr17:37687065G>C	ENST00000447079.4	+	14	4002	c.3969G>C	c.(3967-3969)ttG>ttC	p.L1323F	CDK12_ENST00000430627.2_Missense_Mutation_p.L1314F	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1323					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						ACCAGGCCTTGAGACCAATGG	0.562			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												uc010cvv.2		NaN		Rec	yes		17	17q12	51755		cyclin-dependent kinase 12			E					0				ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						c.(3967-3969)TTG>TTC		Cdc2-related kinase, arginine/serine-rich							91.0	94.0	93.0					17																	37687065		2203	4300	6503	SO:0001583	missense	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37687065G>C	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.3969G>C	17.37:g.37687065G>C	ENSP00000398880:p.Leu1323Phe	TCGA Ovarian(9;0.13)				CDK12_uc002hrw.3_Missense_Mutation_p.L1314F	p.L1323F	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN			14	4555	+			1323					A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	37	c.3969G>C	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	G	5.213	0.224840	0.09916	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.68624	-0.34;-0.33	5.45	5.45	0.79879	.	0.184554	0.26662	N	0.023149	T	0.48429	0.1499	N	0.08118	0	0.36231	D	0.852618	B;B	0.25441	0.077;0.126	B;B	0.26864	0.034;0.074	T	0.57165	-0.7858	10	0.59425	D	0.04	-0.858	13.8722	0.63626	0.0:0.153:0.8469:0.0	.	1323;1314	Q9NYV4;Q9NYV4-2	CDK12_HUMAN;.	F	1314;1323	ENSP00000407720:L1314F;ENSP00000398880:L1323F	ENSP00000407720:L1314F	L	+	3	2	CDK12	34940591	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.659000	0.37387	2.836000	0.97738	0.655000	0.94253	TTG		0.562	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4		NM_016507		101	96	0	0	0	0.01441	0	101	96		
MED24	9862	broad.mit.edu	37	17	38209839	38209839	+	Missense_Mutation	SNP	T	T	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr17:38209839T>C	ENST00000394128.2	-	2	94	c.13A>G	c.(13-15)Aac>Gac	p.N5D	MED24_ENST00000394126.1_Missense_Mutation_p.N30D|MED24_ENST00000501516.3_Missense_Mutation_p.N5D|MED24_ENST00000479829.1_5'UTR|MED24_ENST00000356271.3_Missense_Mutation_p.N5D|MED24_ENST00000394127.2_Missense_Mutation_p.N5D	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	5					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					TGCTTCAGGTTGACCACCTTC	0.488																																						uc002htt.2		NaN																	0				ovary(1)	1						c.(13-15)AAC>GAC		mediator complex subunit 24 isoform 1							107.0	108.0	107.0					17																	38209839		2203	4300	6503	SO:0001583	missense	9862				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:38209839T>C	AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"""thyroid hormone receptor associated protein 4"", ""cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"""	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.13A>G	17.37:g.38209839T>C	ENSP00000377686:p.Asn5Asp					MED24_uc010wet.1_RNA|MED24_uc002hts.2_Missense_Mutation_p.N30D|MED24_uc002htu.2_Missense_Mutation_p.N5D|MED24_uc010cwn.2_Missense_Mutation_p.N5D|MED24_uc010weu.1_5'UTR|MED24_uc010wev.1_Intron|MED24_uc010wew.1_Intron|MED24_uc010wex.1_5'Flank|MED24_uc010wfa.1_5'Flank|MED24_uc010wfb.1_Missense_Mutation_p.N30D|MED24_uc010wfc.1_5'Flank	p.N5D	NM_014815	NP_055630	O75448	MED24_HUMAN			2	326	-	Colorectal(19;0.000442)		5					A8K4S5|B3KMR9|Q14143|Q9NNY5	Missense_Mutation	SNP	ENST00000394128.2	37	c.13A>G	CCDS11359.1	.	.	.	.	.	.	.	.	.	.	T	17.44	3.391398	0.62066	.	.	ENSG00000008838	ENST00000394126;ENST00000356271;ENST00000394128;ENST00000394127;ENST00000536318;ENST00000428757	T;T;T	0.45668	0.89;0.89;0.89	5.88	5.88	0.94601	Mediator complex, subunit Med24, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.57681	0.2070	L	0.54323	1.7	0.80722	D	1	D;P;P;D	0.71674	0.998;0.932;0.945;0.986	P;P;P;P	0.62298	0.9;0.655;0.767;0.84	T	0.57388	-0.7820	10	0.49607	T	0.09	-28.7438	15.9494	0.79820	0.0:0.0:0.0:1.0	.	5;5;5;5	B9TX65;O75448-2;O75448;F5H0K1	.;.;MED24_HUMAN;.	D	5	ENSP00000348610:N5D;ENSP00000377686:N5D;ENSP00000377685:N5D	ENSP00000348610:N5D	N	-	1	0	MED24	35463365	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.929000	0.87595	2.242000	0.73789	0.533000	0.62120	AAC		0.488	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257147.2		NM_014815		68	184	0	0	0	0.01441	0	68	184		
KRT15	3866	broad.mit.edu	37	17	39674601	39674601	+	Missense_Mutation	SNP	A	A	G	rs200448494		TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr17:39674601A>G	ENST00000254043.3	-	1	4064	c.479T>C	c.(478-480)aTt>aCt	p.I160T	KRT15_ENST00000393981.3_Silent_p.L23L|KRT15_ENST00000393976.2_Missense_Mutation_p.I160T|KRT15_ENST00000393974.3_Silent_p.L23L	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	160	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				GAGCTCTTCAATGGTCTTGAA	0.537																																						uc002hwy.2		NaN																	0					0						c.(478-480)ATT>ACT		keratin 15		A	THR/ILE	0,4406		0,0,2203	146.0	139.0	142.0		479	4.1	0.5	17		142	1,8599	1.2+/-3.3	0,1,4299	no	missense	KRT15	NM_002275.3	89	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	160/457	39674601	1,13005	2203	4300	6503	SO:0001583	missense	3866				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39674601A>G		CCDS11398.1	17q21.2	2013-06-20			ENSG00000171346	ENSG00000171346		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6421	protein-coding gene	gene with protein product	"""keratin-15, basic"", ""keratin-15, beta"", ""type I cytoskeletal 15"", ""cytokeratin 15"""	148030				16831889	Standard	NM_002275		Approved	K15, CK15, K1CO	uc002hwy.3	P19012	OTTHUMG00000133435	ENST00000254043.3:c.479T>C	17.37:g.39674601A>G	ENSP00000254043:p.Ile160Thr					KRT15_uc002hwz.2_Silent_p.L23L|KRT15_uc002hxa.2_Silent_p.L23L|KRT15_uc002hxb.1_Silent_p.L23L	p.I160T	NM_002275	NP_002266	P19012	K1C15_HUMAN			1	670	-		Breast(137;0.000286)	160			Rod.|Coil 1B.		B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4	Missense_Mutation	SNP	ENST00000254043.3	37	c.479T>C	CCDS11398.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	A	7.929	0.740307	0.15642	0.0	1.16E-4	ENSG00000171346	ENST00000254043;ENST00000393976	D;D	0.91521	-2.86;-2.86	5.2	4.12	0.48240	Filament (1);	0.417057	0.20000	N	0.101351	D	0.94364	0.8188	H	0.94620	3.56	0.80722	D	1	P	0.39424	0.673	P	0.44696	0.458	D	0.93250	0.6634	10	0.87932	D	0	.	13.3889	0.60811	0.932:0.0:0.068:0.0	.	160	P19012	K1C15_HUMAN	T	160	ENSP00000254043:I160T;ENSP00000377546:I160T	ENSP00000254043:I160T	I	-	2	0	KRT15	36928127	1.000000	0.71417	0.453000	0.27007	0.110000	0.19582	5.000000	0.63940	0.428000	0.26173	-1.447000	0.01057	ATT		0.537	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257301.1		NM_002275		82	81	0	0	0	0.01441	0	82	81		
STAT5B	6777	broad.mit.edu	37	17	40379652	40379652	+	Silent	SNP	G	G	C	rs200624718		TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr17:40379652G>C	ENST00000293328.3	-	3	348	c.180C>G	c.(178-180)ctC>ctG	p.L60L		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	60					2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cellular component movement (GO:0051272)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	GGCCCTCCAGGAGCTGGGTGG	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		15813	0.001		0.0	False		,,,				2504	0.0					uc002hzh.2		NaN																	0				ovary(3)|lung(2)|skin(1)	6						c.(178-180)CTC>CTG		signal transducer and activator of transcription	Dasatinib(DB01254)						56.0	53.0	54.0					17																	40379652		2203	4300	6503	SO:0001819	synonymous_variant	6777				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity	g.chr17:40379652G>C	BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"""SH2 domain containing"""	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.180C>G	17.37:g.40379652G>C						STAT5B_uc002hzi.3_Silent_p.L60L	p.L60L	NM_012448	NP_036580	P51692	STA5B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.135)	3	349	-		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)	60					Q8WWS8	Silent	SNP	ENST00000293328.3	37	c.180C>G	CCDS11423.1																																																																																				0.502	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319797.1		NM_012448		47	35	0	0	0	0.01441	0	47	35		
SCN4A	6329	broad.mit.edu	37	17	62029011	62029011	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr17:62029011C>T	ENST00000435607.1	-	14	2702	c.2626G>A	c.(2626-2628)Gag>Aag	p.E876K	SCN4A_ENST00000578147.1_Missense_Mutation_p.E876K	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	876					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTCTCATCCTCGGGGGCAGTC	0.657																																						uc002jds.1		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(2626-2628)GAG>AAG		voltage-gated sodium channel type 4 alpha	Lamotrigine(DB00555)						46.0	54.0	52.0					17																	62029011		1955	4119	6074	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62029011C>T	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.2626G>A	17.37:g.62029011C>T	ENSP00000396320:p.Glu876Lys						p.E876K	NM_000334	NP_000325	P35499	SCN4A_HUMAN			14	2703	-			876					Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.2626G>A	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	C	2.533	-0.308047	0.05458	.	.	ENSG00000007314	ENST00000435607	D	0.84146	-1.81	3.72	2.71	0.32032	Sodium ion transport-associated (1);	1.114660	0.06946	N	0.813674	T	0.76543	0.4002	L	0.45581	1.43	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.58624	-0.7604	10	0.08837	T	0.75	.	3.7893	0.08713	0.0:0.5776:0.2266:0.1958	.	876	P35499	SCN4A_HUMAN	K	876	ENSP00000396320:E876K	ENSP00000396320:E876K	E	-	1	0	SCN4A	59382743	0.043000	0.20138	0.013000	0.15412	0.086000	0.17979	0.427000	0.21379	1.115000	0.41800	0.455000	0.32223	GAG		0.657	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_000334		4	13	0	0	0	0.009096	0	4	13		
TIMP2	7077	broad.mit.edu	37	17	76866987	76866987	+	Silent	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr17:76866987G>A	ENST00000262768.7	-	3	631	c.333C>T	c.(331-333)ctC>ctT	p.L111L	TIMP2_ENST00000585421.1_Silent_p.L34L|TIMP2_ENST00000536189.2_Silent_p.L34L|TIMP2_ENST00000586057.1_Silent_p.L34L	NM_003255.4	NP_003246.1	P16035	TIMP2_HUMAN	TIMP metallopeptidase inhibitor 2	111	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				aging (GO:0007568)|cellular response to organic substance (GO:0071310)|central nervous system development (GO:0007417)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of proteolysis (GO:0045861)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|regulation of Rap protein signal transduction (GO:0032487)|response to cytokine (GO:0034097)|response to drug (GO:0042493)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.194)			CACCTGCAATGAGATATTCCT	0.582																																						uc002jwf.2		NaN																	0				central_nervous_system(2)	2						c.(331-333)CTC>CTT		TIMP metallopeptidase inhibitor 2 precursor							102.0	92.0	96.0					17																	76866987		2203	4300	6503	SO:0001819	synonymous_variant	7077						metal ion binding|metalloendopeptidase inhibitor activity	g.chr17:76866987G>A		CCDS11758.1	17q25	2008-07-18	2005-08-08		ENSG00000035862	ENSG00000035862			11821	protein-coding gene	gene with protein product		188825	"""tissue inhibitor of metalloproteinase 2"""			1427908	Standard	NM_003255		Approved	CSC-21K	uc002jwf.3	P16035	OTTHUMG00000154517	ENST00000262768.7:c.333C>T	17.37:g.76866987G>A						TIMP2_uc002jwe.2_Silent_p.L34L|TIMP2_uc010wty.1_Silent_p.L34L	p.L111L	NM_003255	NP_003246	P16035	TIMP2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.194)		3	635	-			111			NTR.		Q16121|Q93006|Q9UDF7	Silent	SNP	ENST00000262768.7	37	c.333C>T	CCDS11758.1																																																																																				0.582	TIMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335662.1		NM_003255		90	103	0	0	0	0.01441	0	90	103		
PYCR1	5831	broad.mit.edu	37	17	79891201	79891201	+	Silent	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr17:79891201C>T	ENST00000329875.8	-	7	913	c.849G>A	c.(847-849)aaG>aaA	p.K283K	PYCR1_ENST00000402252.2_Silent_p.K310K|MAFG-AS1_ENST00000583492.1_RNA|PYCR1_ENST00000403172.4_Silent_p.K252K|RP11-498C9.13_ENST00000583521.1_RNA|PYCR1_ENST00000337943.5_Silent_p.K283K|MAFG-AS1_ENST00000582106.1_RNA|PYCR1_ENST00000577756.1_3'UTR	NM_001282280.1|NM_001282281.1|NM_006907.2	NP_001269209.1|NP_001269210.1|NP_008838.2	P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1	283					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to oxidative stress (GO:0034599)|L-proline biosynthetic process (GO:0055129)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|proline biosynthetic process (GO:0006561)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|pyrroline-5-carboxylate reductase activity (GO:0004735)			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)	GGATGGTCTTCTTGATGGCGG	0.642																																						uc002kcr.1		NaN																	0					0						c.(847-849)AAG>AAA		pyrroline-5-carboxylate reductase 1 isoform 1	L-Proline(DB00172)|NADH(DB00157)						99.0	89.0	93.0					17																	79891201		2203	4300	6503	SO:0001819	synonymous_variant	5831				cellular response to oxidative stress|proline biosynthetic process	mitochondrial matrix	binding|pyrroline-5-carboxylate reductase activity	g.chr17:79891201C>T		CCDS11794.1, CCDS11795.1, CCDS62365.1, CCDS62366.1	17q25.3	2013-09-23			ENSG00000183010	ENSG00000183010	1.5.1.2		9721	protein-coding gene	gene with protein product		179035				1730675	Standard	XM_005256381		Approved	P5C	uc002kcr.1	P32322	OTTHUMG00000178436	ENST00000329875.8:c.849G>A	17.37:g.79891201C>T						PYCR1_uc002kcq.1_3'UTR|PYCR1_uc002kcp.2_Silent_p.K283K|PYCR1_uc002kcs.1_3'UTR|PYCR1_uc010wvd.1_Silent_p.K310K|PYCR1_uc002kct.1_Silent_p.K283K|PYCR1_uc002kcu.1_Silent_p.K252K	p.K283K	NM_006907	NP_008838	P32322	P5CR1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		7	1127	-	all_neural(118;0.0878)|Ovarian(332;0.12)		283					A6NFM2|B4DMU0|Q6FHI4|Q96DI6|Q9HBQ4	Silent	SNP	ENST00000329875.8	37	c.849G>A	CCDS11795.1																																																																																				0.642	PYCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441953.1				22	54	0	0	0	0.00333	0	22	54		
PIK3C3	5289	broad.mit.edu	37	18	39584344	39584344	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr18:39584344G>A	ENST00000262039.4	+	10	1095	c.1009G>A	c.(1009-1011)Gtt>Att	p.V337I	PIK3C3_ENST00000398870.3_Missense_Mutation_p.V274I	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	337	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.			FLKCVN -> ILTSVI (in Ref. 1; CAA87094). {ECO:0000305}.	autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						CTTGAAATGTGTTAATTGGGA	0.413										TSP Lung(28;0.18)																											NSCLC(37;552 1060 2683 16430 37914)	uc002lap.2		NaN																	0				lung(8)|ovary(1)|breast(1)	10						c.(1009-1011)GTT>ATT		catalytic phosphatidylinositol 3-kinase 3							61.0	59.0	60.0					18																	39584344		2203	4300	6503	SO:0001583	missense	5289				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding	g.chr18:39584344G>A	Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"""phosphoinositide-3-kinase, class 3"""			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.1009G>A	18.37:g.39584344G>A	ENSP00000262039:p.Val337Ile	TSP Lung(28;0.18)				PIK3C3_uc010xcl.1_Missense_Mutation_p.V274I	p.V337I	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN			10	1067	+			337	FLKCVN -> ILTSVI (in Ref. 1; CAA87094).				Q15134	Missense_Mutation	SNP	ENST00000262039.4	37	c.1009G>A	CCDS11920.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.687440	0.88639	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	T;T	0.68331	-0.32;-0.32	5.45	5.45	0.79879	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73009	0.3532	L	0.59912	1.85	0.80722	D	1	P;P	0.41041	0.736;0.722	B;P	0.48400	0.255;0.576	T	0.70490	-0.4857	9	.	.	.	.	19.2798	0.94048	0.0:0.0:1.0:0.0	.	274;337	A8MYT4;Q8NEB9	.;PK3C3_HUMAN	I	337;274	ENSP00000262039:V337I;ENSP00000381845:V274I	.	V	+	1	0	PIK3C3	37838342	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.843000	0.99491	2.579000	0.87056	0.655000	0.94253	GTT		0.413	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1		NM_002647		44	15	0	0	0	0.01441	0	44	15		
PRKCSH	5589	broad.mit.edu	37	19	11559788	11559788	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr19:11559788C>T	ENST00000589838.1	+	14	1325	c.1325C>T	c.(1324-1326)tCt>tTt	p.S442F	PRKCSH_ENST00000591462.1_Missense_Mutation_p.S439F|PRKCSH_ENST00000587327.1_Missense_Mutation_p.S439F|PRKCSH_ENST00000412601.1_Missense_Mutation_p.S439F|PRKCSH_ENST00000592741.1_Missense_Mutation_p.S449F|PRKCSH_ENST00000252455.2_Missense_Mutation_p.S442F			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	442	PRKCSH.				cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|N-glycan processing (GO:0006491)|negative regulation of neuron projection development (GO:0010977)|nitrogen compound metabolic process (GO:0006807)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein N-linked glycosylation via asparagine (GO:0018279)|renal system development (GO:0072001)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|phosphoprotein binding (GO:0051219)|protein kinase C binding (GO:0005080)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						CTCGGGGGCTCTCCCACCAGC	0.642																																						uc002mrt.2		NaN																	0					0						c.(1324-1326)TCT>TTT		protein kinase C substrate 80K-H isoform 1							92.0	100.0	97.0					19																	11559788		2203	4300	6503	SO:0001583	missense	5589				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding	g.chr19:11559788C>T		CCDS32911.1, CCDS45977.1, CCDS74286.1	19p13.2	2014-01-30			ENSG00000130175	ENSG00000130175	2.7.11.1	"""EF-hand domain containing"""	9411	protein-coding gene	gene with protein product		177060	"""polycystic liver disease"""	G19P1, PCLD, PLD1		12529853	Standard	NM_002743		Approved		uc002mrt.3	P14314	OTTHUMG00000182029	ENST00000589838.1:c.1325C>T	19.37:g.11559788C>T	ENSP00000465461:p.Ser442Phe					PRKCSH_uc002mru.2_Missense_Mutation_p.S439F|PRKCSH_uc010xlz.1_Missense_Mutation_p.S449F|PRKCSH_uc010dya.2_Missense_Mutation_p.S224F|PRKCSH_uc010dyb.2_Missense_Mutation_p.S439F	p.S442F	NM_002743	NP_002734	P14314	GLU2B_HUMAN			15	1661	+			442			PRKCSH.		A8K318|Q96BU9|Q96D06|Q9P0W9	Missense_Mutation	SNP	ENST00000589838.1	37	c.1325C>T	CCDS32911.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.653165	0.47362	.	.	ENSG00000130175	ENST00000252455;ENST00000412601	D;D	0.82984	-1.67;-1.67	4.86	3.83	0.44106	Mannose-6-phosphate receptor, binding (1);Glucosidase II beta subunit-like (1);	0.222814	0.28284	U	0.015919	D	0.90335	0.6976	M	0.80982	2.52	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.87578	0.998;0.998;0.989;0.998	D	0.90767	0.4669	10	0.72032	D	0.01	-28.9964	12.0517	0.53511	0.0:0.9139:0.0:0.0861	.	449;449;439;442	E7EQZ9;B4DJQ5;A8K318;P14314	.;.;.;GLU2B_HUMAN	F	442;439	ENSP00000252455:S442F;ENSP00000395616:S439F	ENSP00000252455:S442F	S	+	2	0	PRKCSH	11420788	1.000000	0.71417	0.043000	0.18650	0.073000	0.16967	5.195000	0.65131	1.049000	0.40321	0.563000	0.77884	TCT		0.642	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458817.1				77	145	0	0	0	0.01441	0	77	145		
CYP4F11	57834	broad.mit.edu	37	19	16045054	16045054	+	Silent	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr19:16045054C>T	ENST00000402119.4	-	1	591	c.165G>A	c.(163-165)ccG>ccA	p.P55P	CYP4F11_ENST00000326742.8_Silent_p.P55P|CYP4F11_ENST00000248041.8_Silent_p.P55P	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						AGTTCTGTTTCGGGGGTTGAG	0.612																																						uc002nbu.2		NaN																	0				ovary(1)	1						c.(163-165)CCG>CCA		cytochrome P450 family 4 subfamily F polypeptide							55.0	53.0	54.0					19																	16045054		2203	4300	6503	SO:0001819	synonymous_variant	57834				inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr19:16045054C>T	AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"""Cytochrome P450s"""	13265	protein-coding gene	gene with protein product		611517	"""cytochrome P450, subfamily IVF, polypeptide 11"""			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.165G>A	19.37:g.16045054C>T						CYP4F11_uc010eab.1_Silent_p.P55P|CYP4F11_uc002nbt.2_Silent_p.P55P	p.P55P	NM_001128932	NP_001122404	Q9HBI6	CP4FB_HUMAN			2	201	-			55						Silent	SNP	ENST00000402119.4	37	c.165G>A	CCDS12337.1																																																																																				0.612	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460385.2		NM_021187		34	70	0	0	0	0.006999	0	34	70		
SIN3B	23309	broad.mit.edu	37	19	16982110	16982110	+	Silent	SNP	C	C	T	rs557366292		TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr19:16982110C>T	ENST00000248054.5	+	14	2514	c.2493C>T	c.(2491-2493)atC>atT	p.I831I	SIN3B_ENST00000595541.1_Silent_p.I421I|SIN3B_ENST00000379803.1_Silent_p.I863I					SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						AGGGCAGCATCGACCCCACGC	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		16915	0.001		0.0	False		,,,				2504	0.0					uc002ney.1		NaN																	0				ovary(2)	2						c.(2587-2589)ATC>ATT		SIN3 homolog B, transcription regulator							118.0	100.0	106.0					19																	16982110		2203	4300	6503	SO:0001819	synonymous_variant	23309				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding	g.chr19:16982110C>T	AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"""SIN3 homolog B, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog B (yeast)"""			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.2493C>T	19.37:g.16982110C>T						SIN3B_uc002nez.1_Silent_p.I831I|SIN3B_uc010xpi.1_Silent_p.I421I	p.I863I	NM_015260	NP_056075	O75182	SIN3B_HUMAN			15	2603	+			863						Silent	SNP	ENST00000248054.5	37	c.2589C>T																																																																																					0.612	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000462846.1		NM_015260		48	65	0	0	0	0.01441	0	48	65		
RFXANK	8625	broad.mit.edu	37	19	19308943	19308943	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr19:19308943G>C	ENST00000303088.4	+	7	940	c.466G>C	c.(466-468)Gag>Cag	p.E156Q	RFXANK_ENST00000353145.1_Missense_Mutation_p.E133Q|RFXANK_ENST00000456252.3_Missense_Mutation_p.E134Q|RFXANK_ENST00000392324.4_Missense_Mutation_p.E133Q|RFXANK_ENST00000407360.3_Missense_Mutation_p.E156Q	NM_003721.2	NP_003712.1	O14593	RFXK_HUMAN	regulatory factor X-associated ankyrin-containing protein	156					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Ras protein signal transduction (GO:0007265)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)			NS(1)|breast(1)|endometrium(1)|lung(8)|ovary(2)|prostate(1)	14			Epithelial(12;0.00228)			CCTGGCAAAAGAGCGAGAGAG	0.597																																						uc002nls.2		NaN																	0				ovary(2)	2						c.(466-468)GAG>CAG		regulatory factor X-associated							87.0	94.0	92.0					19																	19308943		2203	4300	6503	SO:0001583	missense	8625					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr19:19308943G>C	AF094760	CCDS12395.1, CCDS12396.1, CCDS62611.1	19p12	2014-09-17			ENSG00000064490	ENSG00000064490		"""Ankyrin repeat domain containing"""	9987	protein-coding gene	gene with protein product	"""ankyrin repeat-containing regulatory factor X-associated protein"", ""regulatory factor X subunit B"", ""RFX-Bdelta4"", ""DNA-binding protein RFXANK"""	603200				9806546, 10072068	Standard	NM_003721		Approved	BLS, RFX-B, ANKRA1, F14150_1, MGC138628	uc002nls.3	O14593	OTTHUMG00000169224	ENST00000303088.4:c.466G>C	19.37:g.19308943G>C	ENSP00000305071:p.Glu156Gln					RFXANK_uc002nlt.2_Missense_Mutation_p.E133Q|RFXANK_uc002nlu.2_Missense_Mutation_p.E134Q|RFXANK_uc002nlv.2_Missense_Mutation_p.E156Q|RFXANK_uc002nlw.2_Missense_Mutation_p.E155Q	p.E156Q	NM_003721	NP_003712	O14593	RFXK_HUMAN	Epithelial(12;0.00228)		7	971	+			156			ANK 3.		O95839|Q24JQ1|Q6FGA8	Missense_Mutation	SNP	ENST00000303088.4	37	c.466G>C	CCDS12395.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.348391	0.82132	.	.	ENSG00000064490	ENST00000353145;ENST00000456252;ENST00000303088;ENST00000407360;ENST00000543652;ENST00000540981;ENST00000541873;ENST00000392324;ENST00000535017	T;T;T;T;T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53;-0.32;-0.32;-0.53;-0.32	4.67	3.62	0.41486	Ankyrin repeat-containing domain (3);	0.217375	0.45867	D	0.000334	T	0.74854	0.3771	L	0.38175	1.15	0.58432	D	0.999991	D;D;D;D	0.76494	0.999;0.999;0.997;0.997	D;D;D;D	0.74023	0.982;0.966;0.974;0.942	T	0.72843	-0.4170	10	0.39692	T	0.17	-25.8509	11.8592	0.52457	0.0:0.0:0.8238:0.1762	.	156;134;133;156	Q6IB23;Q24JQ1;O14593-2;O14593	.;.;.;RFXK_HUMAN	Q	133;134;156;155;156;134;133;133;99	ENSP00000262804:E133Q;ENSP00000409138:E134Q;ENSP00000305071:E156Q;ENSP00000384572:E155Q;ENSP00000439581:E156Q;ENSP00000440325:E134Q;ENSP00000376138:E133Q;ENSP00000444280:E99Q	ENSP00000305071:E156Q	E	+	1	0	RFXANK	19169943	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	9.667000	0.98616	0.923000	0.37045	0.563000	0.77884	GAG		0.597	RFXANK-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402923.2		NM_003721		74	165	0	0	0	0.01441	0	74	165		
NR2C2AP	126382	broad.mit.edu	37	19	19313302	19313302	+	Missense_Mutation	SNP	G	G	C	rs533815692		TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr19:19313302G>C	ENST00000331552.7	-	3	575	c.212C>G	c.(211-213)tCc>tGc	p.S71C	NR2C2AP_ENST00000544883.1_Intron|NR2C2AP_ENST00000538165.2_Missense_Mutation_p.S71C|NR2C2AP_ENST00000420605.3_Missense_Mutation_p.S71C	NM_176880.4	NP_795361.1	Q86WQ0	NR2CA_HUMAN	nuclear receptor 2C2-associated protein	71					cell adhesion (GO:0007155)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)				breast(1)|cervix(1)|kidney(2)|ovary(1)	5			Epithelial(12;0.00235)			CCGGCGACTGGAGAAGCCACC	0.617																																						uc002nlx.2		NaN																	0				ovary(1)	1						c.(211-213)TCC>TGC		TR4 orphan receptor associated protein TRA16							47.0	53.0	51.0					19																	19313302		2203	4300	6503	SO:0001583	missense	126382				cell adhesion|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm		g.chr19:19313302G>C	AY101377	CCDS32967.1, CCDS74316.1	19p13.11	2008-01-10				ENSG00000184162			30763	protein-coding gene	gene with protein product	"""TR4 orphan receptor associated protein TRA16"""	608719				12486131	Standard	XM_005259740		Approved	TRA16	uc002nlx.3	Q86WQ0		ENST00000331552.7:c.212C>G	19.37:g.19313302G>C	ENSP00000332823:p.Ser71Cys					NR2C2AP_uc010xqq.1_5'Flank|NR2C2AP_uc002nly.2_Missense_Mutation_p.S71C	p.S71C	NM_176880	NP_795361	Q86WQ0	NR2CA_HUMAN	Epithelial(12;0.00235)		3	581	-			71					A6NGP7|B4DW92	Missense_Mutation	SNP	ENST00000331552.7	37	c.212C>G	CCDS32967.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.716441	0.68844	.	.	ENSG00000184162	ENST00000331552;ENST00000420605	D;D	0.98280	-4.84;-4.84	4.48	3.44	0.39384	Coagulation factor 5/8 C-terminal type domain (1);Galactose-binding domain-like (1);	0.204078	0.43747	D	0.000535	D	0.98317	0.9442	M	0.76574	2.34	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.68192	0.942;0.956	D	0.97859	1.0279	10	0.51188	T	0.08	-18.7349	8.3705	0.32412	0.1069:0.0:0.8931:0.0	.	71;71	B4DW92;Q86WQ0	.;NR2CA_HUMAN	C	71	ENSP00000332823:S71C;ENSP00000402756:S71C	ENSP00000332823:S71C	S	-	2	0	NR2C2AP	19174302	1.000000	0.71417	0.266000	0.24541	0.976000	0.68499	6.156000	0.71840	1.115000	0.41800	0.462000	0.41574	TCC		0.617	NR2C2AP-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402936.4		NM_176880		22	68	0	0	0	0.00278	0	22	68		
ZNF14	7561	broad.mit.edu	37	19	19822176	19822176	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr19:19822176C>T	ENST00000344099.3	-	4	2052	c.1914G>A	c.(1912-1914)atG>atA	p.M638I		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	638					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				CTTTCTCTCCCATATGAGTCC	0.413																																						uc002nnk.1		NaN																	0				ovary(3)	3						c.(1912-1914)ATG>ATA		zinc finger protein 14							88.0	84.0	85.0					19																	19822176		2203	4300	6503	SO:0001583	missense	7561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:19822176C>T	AA286756	CCDS12409.1	19p13.11	2013-01-08	2006-05-10					"""Zinc fingers, C2H2-type"", ""-"""	12924	protein-coding gene	gene with protein product		194556	"""zinc finger protein 14 (KOX 6)"""				Standard	NM_021030		Approved	KOX6, GIOT-4	uc002nnk.1	P17017		ENST00000344099.3:c.1914G>A	19.37:g.19822176C>T	ENSP00000340514:p.Met638Ile						p.M638I	NM_021030	NP_066358	P17017	ZNF14_HUMAN			4	2068	-		Renal(1328;0.0474)	638					B9EGA4|Q9ULZ5	Missense_Mutation	SNP	ENST00000344099.3	37	c.1914G>A	CCDS12409.1	.	.	.	.	.	.	.	.	.	.	C	7.175	0.588402	0.13812	.	.	ENSG00000105708	ENST00000344099	T	0.05199	3.48	1.86	-3.72	0.04411	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01976	0.0062	N	0.02412	-0.56	0.18873	N	0.999983	B	0.02656	0.0	B	0.04013	0.001	T	0.41805	-0.9488	9	0.48119	T	0.1	.	0.644	0.00815	0.4602:0.2051:0.1435:0.1912	.	638	P17017	ZNF14_HUMAN	I	638	ENSP00000340514:M638I	ENSP00000340514:M638I	M	-	3	0	ZNF14	19683176	0.011000	0.17503	0.000000	0.03702	0.015000	0.08874	-3.463000	0.00462	-1.395000	0.02074	-0.706000	0.03657	ATG		0.413	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460775.1		NM_021030		32	69	0	0	0	0.003271	0	32	69		
GPI	2821	broad.mit.edu	37	19	34884827	34884827	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr19:34884827C>G	ENST00000356487.5	+	12	1159	c.918C>G	c.(916-918)caC>caG	p.H306Q	GPI_ENST00000415930.3_Missense_Mutation_p.H317Q|GPI_ENST00000586425.1_Missense_Mutation_p.H306Q	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	306					aldehyde catabolic process (GO:0046185)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|hemostasis (GO:0007599)|humoral immune response (GO:0006959)|learning or memory (GO:0007611)|methylglyoxal biosynthetic process (GO:0019242)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucose-6-phosphate isomerase activity (GO:0004347)|intramolecular transferase activity (GO:0016866)|monosaccharide binding (GO:0048029)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					AGGACCAGCACTTCCGCACGA	0.627																																						uc002nvg.1		NaN																	0				ovary(1)|kidney(1)	2						c.(916-918)CAC>CAG		glucose phosphate isomerase							132.0	135.0	134.0					19																	34884827		2203	4300	6503	SO:0001583	missense	2821				angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity	g.chr19:34884827C>G	M61214	CCDS12437.1, CCDS54246.1	19q13.1	2012-10-02	2010-05-11			ENSG00000105220	5.3.1.9		4458	protein-coding gene	gene with protein product		172400	"""glucose phosphate isomerase"""			2387591, 8575767	Standard	NM_001184722		Approved	AMF, NLK	uc002nvg.2	P06744		ENST00000356487.5:c.918C>G	19.37:g.34884827C>G	ENSP00000348877:p.His306Gln					GPI_uc002nvf.2_Missense_Mutation_p.H345Q|GPI_uc010xrv.1_Missense_Mutation_p.H317Q|GPI_uc010xrw.1_Missense_Mutation_p.H278Q|GPI_uc010edl.1_Missense_Mutation_p.H306Q|GPI_uc002nvi.1_5'UTR	p.H306Q	NM_000175	NP_000166	P06744	G6PI_HUMAN			12	1021	+	Esophageal squamous(110;0.162)		306					B4DG39|Q9BRD3|Q9BSK5|Q9UHE6	Missense_Mutation	SNP	ENST00000356487.5	37	c.918C>G	CCDS12437.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.684649	0.68157	.	.	ENSG00000105220	ENST00000415930;ENST00000356487	D;D	0.93811	-3.29;-3.29	5.54	4.51	0.55191	.	0.000000	0.85682	D	0.000000	D	0.98021	0.9348	H	0.98525	4.255	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.98931	1.0787	10	0.87932	D	0	-3.142	13.927	0.63968	0.0:0.9273:0.0:0.0727	.	278;317;279;306	B4DE36;B4DG39;B4DVJ0;P06744	.;.;.;G6PI_HUMAN	Q	317;306	ENSP00000405573:H317Q;ENSP00000348877:H306Q	ENSP00000348877:H306Q	H	+	3	2	GPI	39576667	1.000000	0.71417	1.000000	0.80357	0.420000	0.31355	2.849000	0.48286	1.343000	0.45638	0.650000	0.86243	CAC		0.627	GPI-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451693.3				106	454	0	0	0	0.01441	0	106	454		
UBA2	10054	broad.mit.edu	37	19	34949727	34949727	+	Silent	SNP	A	A	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr19:34949727A>G	ENST00000246548.4	+	13	1369	c.1299A>G	c.(1297-1299)gcA>gcG	p.A433A	UBA2_ENST00000439527.2_Silent_p.A337A|UBA2_ENST00000592791.1_5'UTR	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	433					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SUMO activating enzyme complex (GO:0031510)	ATP binding (GO:0005524)|enzyme activator activity (GO:0008047)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SUMO activating enzyme activity (GO:0019948)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TGCCTTGTGCACTGGATCCTC	0.433																																						uc002nvk.2		NaN																	0				ovary(1)	1						c.(1297-1299)GCA>GCG		SUMO-1 activating enzyme subunit 2							138.0	124.0	129.0					19																	34949727		2203	4300	6503	SO:0001819	synonymous_variant	10054				protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity	g.chr19:34949727A>G	BC003153	CCDS12439.1	19q13.11	2008-02-05	2007-11-30	2007-11-30		ENSG00000126261		"""Ubiquitin-like modifier activating enzymes"""	30661	protein-coding gene	gene with protein product	"""UBA2, ubiquitin-activating enzyme E1 homolog (yeast)"""	613295	"""SUMO1 activating enzyme subunit 2"""	SAE2		10187858, 9920803	Standard	NM_005499		Approved	FLJ13058, HRIHFB2115, ARX	uc002nvk.3	Q9UBT2		ENST00000246548.4:c.1299A>G	19.37:g.34949727A>G						UBA2_uc010xrx.1_Silent_p.A306A|UBA2_uc002nvl.2_Silent_p.A337A	p.A433A	NM_005499	NP_005490	Q9UBT2	SAE2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.211)		13	1369	+	Esophageal squamous(110;0.162)		433					B3KWB9|O95605|Q59H87|Q6IBP6|Q9NTJ1|Q9UED2	Silent	SNP	ENST00000246548.4	37	c.1299A>G	CCDS12439.1																																																																																				0.433	UBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459257.3		NM_005499		164	106	0	0	0	0.01441	0	164	106		
ZNF546	339327	broad.mit.edu	37	19	40521413	40521413	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr19:40521413G>A	ENST00000347077.4	+	7	2452	c.2236G>A	c.(2236-2238)Gag>Aag	p.E746K	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Missense_Mutation_p.E720K	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	746					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCATACTGGTGAGAAACCTTA	0.398																																						uc002oms.2		NaN																	0				ovary(1)|breast(1)|skin(1)	3						c.(2236-2238)GAG>AAG		zinc finger protein 546							87.0	83.0	85.0					19																	40521413		2203	4300	6503	SO:0001583	missense	339327				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40521413G>A	BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"""Zinc fingers, C2H2-type"", ""-"""	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.2236G>A	19.37:g.40521413G>A	ENSP00000339823:p.Glu746Lys					ZNF546_uc002omt.2_Missense_Mutation_p.E720K	p.E746K	NM_178544	NP_848639	Q86UE3	ZN546_HUMAN			7	2492	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		746					A8K913	Missense_Mutation	SNP	ENST00000347077.4	37	c.2236G>A	CCDS12548.1	.	.	.	.	.	.	.	.	.	.	g	17.90	3.502387	0.64298	.	.	ENSG00000187187	ENST00000347077;ENST00000392042	T	0.24350	1.86	2.52	2.52	0.30459	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34019	0.0883	L	0.48935	1.535	0.26103	N	0.980799	D	0.62365	0.991	P	0.59825	0.864	T	0.08932	-1.0698	9	0.62326	D	0.03	.	5.3061	0.15805	0.1595:0.0:0.8405:0.0	.	746	Q86UE3	ZN546_HUMAN	K	746;355	ENSP00000339823:E746K	ENSP00000339823:E746K	E	+	1	0	ZNF546	45213253	0.962000	0.33011	1.000000	0.80357	0.983000	0.72400	2.618000	0.46393	1.703000	0.51240	0.591000	0.81541	GAG		0.398	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2		NM_178544		150	79	0	0	0	0.01441	0	150	79		
ZNF112	7771	broad.mit.edu	37	19	44833549	44833549	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr19:44833549C>T	ENST00000337401.4	-	5	867	c.779G>A	c.(778-780)tGt>tAt	p.C260Y	ZNF112_ENST00000536500.1_Missense_Mutation_p.C277Y|ZNF112_ENST00000354340.4_Missense_Mutation_p.C254Y	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	260					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										ATACCCAGTACATGGATAGGG	0.423																																						uc010ejj.2		NaN																	0				ovary(3)|skin(2)	5						c.(778-780)TGT>TAT		zinc finger protein 228 isoform 1							109.0	108.0	108.0					19																	44833549		2203	4300	6503	SO:0001583	missense	7771				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44833549C>T	AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.779G>A	19.37:g.44833549C>T	ENSP00000337081:p.Cys260Tyr					ZFP112_uc002ozc.3_Missense_Mutation_p.C254Y|ZFP112_uc010xwy.1_Missense_Mutation_p.C277Y|ZFP112_uc010xwz.1_Missense_Mutation_p.C259Y	p.C260Y	NM_001083335	NP_001076804	Q9UJU3	ZF112_HUMAN			5	892	-			260			C2H2-type 1; degenerate.		A4FU53|Q9HCA7	Missense_Mutation	SNP	ENST00000337401.4	37	c.779G>A	CCDS54276.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.982745	0.34942	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	T;T;T	0.35605	1.3;1.3;1.3	5.38	-0.589	0.11683	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.581350	0.04125	N	0.316947	T	0.37571	0.1008	M	0.75615	2.305	0.09310	N	1	B;B;B	0.10296	0.002;0.003;0.002	B;B;B	0.14023	0.004;0.01;0.004	T	0.38607	-0.9653	10	0.87932	D	0	1.0575	3.1293	0.06418	0.1236:0.5502:0.1197:0.2066	.	259;277;260	B4DYT4;F5GWS7;Q9UJU3	.;.;ZF112_HUMAN	Y	260;260;254;277;259	ENSP00000337081:C260Y;ENSP00000346305:C254Y;ENSP00000441990:C277Y	ENSP00000253426:C259Y	C	-	2	0	ZNF285	49525389	.	.	0.000000	0.03702	0.130000	0.20726	.	.	-0.127000	0.11661	0.561000	0.74099	TGT		0.423	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1		NM_013380		44	243	0	0	0	0.010771	0	44	243		
PNMAL2	57469	broad.mit.edu	37	19	46998590	46998590	+	Missense_Mutation	SNP	G	G	A	rs543855076		TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr19:46998590G>A	ENST00000377655.2	-	1	132	c.133C>T	c.(133-135)Ccc>Tcc	p.P45S	PNMAL2_ENST00000594749.1_Intron|PNMAL2_ENST00000599531.1_Missense_Mutation_p.P45S|AC011484.1_ENST00000377652.3_3'UTR			Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	45										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		gtgcccaggggcaggagggtc	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		16503	0.0		0.001	False		,,,				2504	0.0					uc002pes.2		NaN																	0				central_nervous_system(1)	1						c.(133-135)CCC>TCC		PNMA-like 2							64.0	69.0	68.0					19																	46998590		2106	4215	6321	SO:0001583	missense	57469							g.chr19:46998590G>A	AB033009	CCDS59400.1	19q13.32	2014-02-12	2012-02-09		ENSG00000204851	ENSG00000204851		"""Paraneoplastic Ma antigens"""	29206	protein-coding gene	gene with protein product			"""PNMA-like 2"""			10574461	Standard	NM_020709		Approved	KIAA1183	uc002pes.2	Q9ULN7		ENST00000377655.2:c.133C>T	19.37:g.46998590G>A	ENSP00000366883:p.Pro45Ser					uc002peu.1_3'UTR	p.P45S	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	1	580	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	45					C9JGD5|M0R374|Q08E79|Q0D2F9|Q6ZVD1	Missense_Mutation	SNP	ENST00000377655.2	37	c.133C>T		.	.	.	.	.	.	.	.	.	.	G	11.79	1.743696	0.30865	.	.	ENSG00000204851	ENST00000377655	T	0.18502	2.21	2.5	-1.32	0.09201	.	.	.	.	.	T	0.13713	0.0332	L	0.46819	1.47	0.09310	N	1	B	0.22851	0.076	B	0.25759	0.063	T	0.32561	-0.9902	9	0.52906	T	0.07	-3.9011	4.9685	0.14103	0.148:0.4978:0.3542:0.0	.	45	Q9ULN7	PNML2_HUMAN	S	45	ENSP00000366883:P45S	ENSP00000366883:P45S	P	-	1	0	PNMAL2	51690430	0.019000	0.18553	0.034000	0.17996	0.189000	0.23516	0.254000	0.18314	-0.176000	0.10707	0.591000	0.81541	CCC		0.657	PNMAL2-201	KNOWN	basic	protein_coding	protein_coding			NM_020709		39	168	0	0	0	0.00874	0	39	168		
PNMAL2	57469	broad.mit.edu	37	19	46998594	46998594	+	Silent	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr19:46998594G>A	ENST00000377655.2	-	1	128	c.129C>T	c.(127-129)ctC>ctT	p.L43L	PNMAL2_ENST00000594749.1_Intron|PNMAL2_ENST00000599531.1_Silent_p.L43L|AC011484.1_ENST00000377652.3_3'UTR			Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	43										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		ccaggggcaggagggtcggct	0.667																																						uc002pes.2		NaN																	0				central_nervous_system(1)	1						c.(127-129)CTC>CTT		PNMA-like 2							63.0	68.0	66.0					19																	46998594		2107	4217	6324	SO:0001819	synonymous_variant	57469							g.chr19:46998594G>A	AB033009	CCDS59400.1	19q13.32	2014-02-12	2012-02-09		ENSG00000204851	ENSG00000204851		"""Paraneoplastic Ma antigens"""	29206	protein-coding gene	gene with protein product			"""PNMA-like 2"""			10574461	Standard	NM_020709		Approved	KIAA1183	uc002pes.2	Q9ULN7		ENST00000377655.2:c.129C>T	19.37:g.46998594G>A						uc002peu.1_3'UTR	p.L43L	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	1	576	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	43					C9JGD5|M0R374|Q08E79|Q0D2F9|Q6ZVD1	Silent	SNP	ENST00000377655.2	37	c.129C>T																																																																																					0.667	PNMAL2-201	KNOWN	basic	protein_coding	protein_coding			NM_020709		38	165	0	0	0	0.007835	0	38	165		
ZNF347	84671	broad.mit.edu	37	19	53644201	53644201	+	Missense_Mutation	SNP	T	T	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr19:53644201T>A	ENST00000334197.7	-	5	1948	c.1880A>T	c.(1879-1881)tAt>tTt	p.Y627F	ZNF347_ENST00000601469.2_Missense_Mutation_p.Y628F|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000452676.2_Missense_Mutation_p.Y628F	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	627					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		ATACTCATTATACTTGTAAGG	0.378																																					Melanoma(64;205 1597 17324 45721)	uc002qbb.1		NaN																	0					0						c.(1879-1881)TAT>TTT		zinc finger protein 347							133.0	127.0	129.0					19																	53644201		2203	4300	6503	SO:0001583	missense	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644201T>A	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1880A>T	19.37:g.53644201T>A	ENSP00000334146:p.Tyr627Phe					ZNF347_uc010eql.1_Missense_Mutation_p.Y628F|ZNF347_uc002qbc.1_Missense_Mutation_p.Y628F	p.Y627F	NM_032584	NP_115973	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	1949	-			627			C2H2-type 14; degenerate.		B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	ENST00000334197.7	37	c.1880A>T	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	T	12.36	1.915773	0.33815	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.17528	2.27;2.27	3.01	-0.508	0.11980	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08582	0.0213	N	0.10916	0.065	0.09310	N	1	B;B	0.31256	0.316;0.077	B;B	0.31751	0.135;0.099	T	0.32268	-0.9913	9	0.62326	D	0.03	.	6.2288	0.20724	0.0:0.6233:0.0:0.3767	.	628;627	G5E9N4;Q96SE7	.;ZN347_HUMAN	F	627;628	ENSP00000334146:Y627F;ENSP00000405218:Y628F	ENSP00000334146:Y627F	Y	-	2	0	ZNF347	58336013	0.019000	0.18553	0.000000	0.03702	0.010000	0.07245	1.366000	0.34193	-0.135000	0.11495	-0.242000	0.12053	TAT		0.378	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1		NM_032584		198	114	0	0	0	0.01441	0	198	114		
ZNF134	7693	broad.mit.edu	37	19	58131830	58131830	+	Missense_Mutation	SNP	A	A	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr19:58131830A>G	ENST00000396161.5	+	3	653	c.343A>G	c.(343-345)Att>Gtt	p.I115V		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	115					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		TGAGGCCTCAATTGTGAAGAA	0.463																																						uc002qpn.2		NaN																	0					0						c.(343-345)ATT>GTT		zinc finger protein 134							59.0	57.0	58.0					19																	58131830		1953	4169	6122	SO:0001583	missense	7693					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58131830A>G	U09412	CCDS42638.1	19q13.4	2013-01-08	2006-06-13			ENSG00000213762		"""Zinc fingers, C2H2-type"""	12918	protein-coding gene	gene with protein product		604076	"""zinc finger protein 134 (clone pHZ-15)"""			7557990	Standard	NM_003435		Approved	pHZ-15	uc002qpn.2	P52741		ENST00000396161.5:c.343A>G	19.37:g.58131830A>G	ENSP00000379464:p.Ile115Val					ZNF134_uc002qpo.2_5'UTR|ZNF211_uc010yhb.1_5'UTR	p.I115V	NM_003435	NP_003426	P52741	ZN134_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	3	442	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	115					Q9Y4B2	Missense_Mutation	SNP	ENST00000396161.5	37	c.343A>G	CCDS42638.1	.	.	.	.	.	.	.	.	.	.	A	9.783	1.175710	0.21704	.	.	ENSG00000213762	ENST00000418193;ENST00000541849;ENST00000396161	T	0.07114	3.22	3.39	-3.01	0.05463	.	.	.	.	.	T	0.04861	0.0131	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39800	-0.9596	9	0.87932	D	0	.	3.279	0.06908	0.2929:0.2908:0.0:0.4163	.	115	P52741	ZN134_HUMAN	V	182;35;115	ENSP00000379464:I115V	ENSP00000379464:I115V	I	+	1	0	ZNF134	62823642	0.000000	0.05858	0.000000	0.03702	0.314000	0.28054	-0.560000	0.05964	-0.794000	0.04468	-0.309000	0.09137	ATT		0.463	ZNF134-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466808.1		NM_003435		94	63	0	0	0	0.01441	0	94	63		
APOB	338	broad.mit.edu	37	2	21233836	21233836	+	Silent	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr2:21233836G>A	ENST00000233242.1	-	26	6031	c.5904C>T	c.(5902-5904)gtC>gtT	p.V1968V		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1968					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCAGGGCACTGACTTTGTGTT	0.453																																						uc002red.2		NaN																	0				ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(5902-5904)GTC>GTT		apolipoprotein B precursor	Atorvastatin(DB01076)						154.0	143.0	147.0					2																	21233836		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21233836G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.5904C>T	2.37:g.21233836G>A							p.V1968V	NM_000384	NP_000375	P04114	APOB_HUMAN			26	6032	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1968					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.5904C>T	CCDS1703.1																																																																																				0.453	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1				56	105	0	0	0	0.01441	0	56	105		
OTOF	9381	broad.mit.edu	37	2	26717812	26717812	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr2:26717812C>T	ENST00000272371.2	-	9	1021	c.895G>A	c.(895-897)Gag>Aag	p.E299K	OTOF_ENST00000403946.3_Missense_Mutation_p.E299K	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	299	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCACTGACCTCGTTGTAATAG	0.572																																					GBM(102;732 1451 20652 24062 31372)	uc002rhk.2		NaN																	0				ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7						c.(895-897)GAG>AAG		otoferlin isoform a							109.0	93.0	99.0					2																	26717812		2203	4300	6503	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26717812C>T	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.895G>A	2.37:g.26717812C>T	ENSP00000272371:p.Glu299Lys						p.E299K	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN			9	1022	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		299			Cytoplasmic (Potential).|C2 1.		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.895G>A	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	C	36	5.616178	0.96649	.	.	ENSG00000115155	ENST00000272371;ENST00000403946	T;T	0.77750	-1.12;-1.12	5.83	5.83	0.93111	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.92071	0.7487	H	0.95043	3.615	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.93798	0.7098	10	0.87932	D	0	-43.906	18.679	0.91540	0.0:1.0:0.0:0.0	.	299	Q9HC10	OTOF_HUMAN	K	299	ENSP00000272371:E299K;ENSP00000385255:E299K	ENSP00000272371:E299K	E	-	1	0	OTOF	26571316	1.000000	0.71417	0.992000	0.48379	0.892000	0.51952	7.703000	0.84585	2.750000	0.94351	0.655000	0.94253	GAG		0.572	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3				30	82	0	0	0	0.009535	0	30	82		
AGBL5	60509	broad.mit.edu	37	2	27276416	27276416	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr2:27276416G>A	ENST00000360131.4	+	3	521	c.362G>A	c.(361-363)cGc>cAc	p.R121H	RP11-503P10.1_ENST00000607407.1_RNA|AGBL5_ENST00000323064.8_Missense_Mutation_p.R121H	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	121					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGCTGGGAACGCATTCGAGAC	0.498																																						uc002rie.2		NaN																	0				ovary(1)|breast(1)	2						c.(361-363)CGC>CAC		ATP/GTP binding protein-like 5 isoform 1							58.0	59.0	59.0					2																	27276416		2203	4300	6503	SO:0001583	missense	60509				protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr2:27276416G>A	BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 5"""	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.362G>A	2.37:g.27276416G>A	ENSP00000353249:p.Arg121His					AGBL5_uc002ric.2_Missense_Mutation_p.R121H|AGBL5_uc002rid.2_Missense_Mutation_p.R121H|AGBL5_uc002rif.2_RNA	p.R121H	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN			3	579	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		121					A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Missense_Mutation	SNP	ENST00000360131.4	37	c.362G>A	CCDS1732.3	.	.	.	.	.	.	.	.	.	.	G	32	5.128952	0.94473	.	.	ENSG00000084693	ENST00000453161;ENST00000323064;ENST00000360131	T;T	0.24538	1.85;1.86	5.67	5.67	0.87782	.	0.044935	0.85682	N	0.000000	T	0.58793	0.2147	M	0.86573	2.825	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.62969	-0.6741	10	0.54805	T	0.06	-5.2161	18.5343	0.91004	0.0:0.0:1.0:0.0	.	121;121;121	Q8NDL9;Q8NDL9-3;Q8NDL9-2	CBPC5_HUMAN;.;.	H	121	ENSP00000323681:R121H;ENSP00000353249:R121H	ENSP00000323681:R121H	R	+	2	0	AGBL5	27129920	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	9.094000	0.94168	2.666000	0.90696	0.561000	0.74099	CGC		0.498	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309033.1		NM_021831		35	109	0	0	0	0.006999	0	35	109		
CDC42EP3	10602	broad.mit.edu	37	2	37873446	37873446	+	Silent	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr2:37873446G>A	ENST00000295324.3	-	2	1285	c.285C>T	c.(283-285)ttC>ttT	p.F95F	AC006369.2_ENST00000419425.1_RNA	NM_001270436.1|NM_001270437.1|NM_001270438.1|NM_006449.4	NP_001257365.1|NP_001257366.1|NP_001257367.1|NP_006440.2	Q9UKI2	BORG2_HUMAN	CDC42 effector protein (Rho GTPase binding) 3	95					regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	cytoskeletal regulatory protein binding (GO:0005519)			endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	11		all_hematologic(82;0.172)				GCGTTTCTGTGAACACAGAGT	0.532																																						uc002rqi.1		NaN																	0					0						c.(283-285)TTC>TTT		Cdc42 effector protein 3							101.0	104.0	103.0					2																	37873446		2203	4300	6503	SO:0001819	synonymous_variant	10602				regulation of cell shape|signal transduction	actin cytoskeleton|cytoplasm|endomembrane system|membrane	cytoskeletal regulatory protein binding	g.chr2:37873446G>A	AF094521	CCDS1791.1	2p21	2008-05-21			ENSG00000163171	ENSG00000163171			16943	protein-coding gene	gene with protein product		606133				9535835, 11035016	Standard	NM_001270436		Approved	CEP3, UB1, BORG2	uc031rnz.1	Q9UKI2	OTTHUMG00000100971	ENST00000295324.3:c.285C>T	2.37:g.37873446G>A							p.F95F	NM_006449	NP_006440	Q9UKI2	BORG2_HUMAN			2	1278	-		all_hematologic(82;0.172)	95					B2R8S0|O95353|Q9UQJ0	Silent	SNP	ENST00000295324.3	37	c.285C>T	CCDS1791.1																																																																																				0.532	CDC42EP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218581.3		NM_006449		59	128	0	0	0	0.01441	0	59	128		
OXER1	165140	broad.mit.edu	37	2	42990228	42990228	+	Silent	SNP	G	G	A	rs370218708		TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr2:42990228G>A	ENST00000378661.2	-	1	1173	c.1092C>T	c.(1090-1092)caC>caT	p.H364H		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	364					G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cAMP biosynthetic process (GO:0030817)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050648)|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050647)|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050646)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						CCCGGCTCTGGTGGAGGAAGT	0.657																																						uc002rss.2		NaN																	0				breast(1)	1						c.(1090-1092)CAC>CAT		G-protein coupled receptor TG1019		G		1,4405	2.1+/-5.4	0,1,2202	38.0	47.0	44.0		1092	3.0	0.0	2		44	0,8600		0,0,4300	no	coding-synonymous	OXER1	NM_148962.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		364/424	42990228	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	165140				regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity	g.chr2:42990228G>A	AB083055	CCDS1810.1	2p22.1	2012-08-10			ENSG00000162881	ENSG00000162881		"""GPCR / Class A : Leukotriene receptors"""	24884	protein-coding gene	gene with protein product	"""5-oxo-ETE acid G-protein-coupled receptor 1"""					12065583, 15001665	Standard	NM_148962		Approved	GPCR, TG1019, GPR170	uc002rss.3	Q8TDS5	OTTHUMG00000128643	ENST00000378661.2:c.1092C>T	2.37:g.42990228G>A							p.H364H	NM_148962	NP_683765	Q8TDS5	OXER1_HUMAN			1	1174	-			364			Cytoplasmic (Potential).		Q86WP7|Q8NGW4	Silent	SNP	ENST00000378661.2	37	c.1092C>T	CCDS1810.1																																																																																				0.657	OXER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250514.1		NM_148962		31	39	0	0	0	0.003271	0	31	39		
STON1	11037	broad.mit.edu	37	2	48808503	48808503	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr2:48808503C>A	ENST00000406226.1	+	3	926	c.731C>A	c.(730-732)tCa>tAa	p.S244*	STON1_ENST00000404752.1_Nonsense_Mutation_p.S244*|STON1-GTF2A1L_ENST00000309827.2_Nonsense_Mutation_p.S244*|STON1-GTF2A1L_ENST00000394754.1_Nonsense_Mutation_p.S244*|STON1-GTF2A1L_ENST00000402114.2_Nonsense_Mutation_p.S244*|STON1-GTF2A1L_ENST00000394751.3_Nonsense_Mutation_p.S244*|STON1-GTF2A1L_ENST00000405008.1_Nonsense_Mutation_p.S244*|STON1_ENST00000309835.3_Nonsense_Mutation_p.S244*	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	244					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AACCAAGACTCACTTAGAAGT	0.433																																						uc010yol.1		NaN																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(730-732)TCA>TAA		stonin 1							90.0	81.0	84.0					2																	48808503		2203	4300	6503	SO:0001587	stop_gained	286749				endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		g.chr2:48808503C>A	AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"""stoned B homolog 1 (Drosophila)"""	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.731C>A	2.37:g.48808503C>A	ENSP00000384615:p.Ser244*					STON1_uc002rwo.3_Nonsense_Mutation_p.S244*|STON1_uc010fbm.2_Nonsense_Mutation_p.S244*|STON1-GTF2A1L_uc002rwp.1_Nonsense_Mutation_p.S244*|STON1_uc002rwr.2_RNA|STON1_uc002rwq.2_Nonsense_Mutation_p.S244*	p.S244*	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		1	778	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	244					A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Nonsense_Mutation	SNP	ENST00000406226.1	37	c.731C>A	CCDS1841.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742129	0.69418	.	.	ENSG00000243244;ENSG00000243244;ENSG00000243244;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781	ENST00000404752;ENST00000406226;ENST00000309835;ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751	.	.	.	5.24	5.24	0.73138	.	2.796080	0.00857	N	0.001893	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	15.0458	0.71827	0.1425:0.8575:0.0:0.0	.	.	.	.	X	244	.	ENSP00000310969:S244X	S	+	2	0	STON1-GTF2A1L;STON1	48662007	0.783000	0.28701	0.084000	0.20598	0.041000	0.13682	0.878000	0.28126	2.884000	0.98904	0.655000	0.94253	TCA		0.433	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323848.2		NM_006873		51	80	1	0	3.07002e-29	0.01441	3.43119e-29	51	80		
UGP2	7360	broad.mit.edu	37	2	64114602	64114602	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr2:64114602G>T	ENST00000337130.5	+	8	1614	c.1138G>T	c.(1138-1140)Gag>Tag	p.E380*	UGP2_ENST00000467648.2_Nonsense_Mutation_p.E369*|UGP2_ENST00000394417.2_Nonsense_Mutation_p.E369*|UGP2_ENST00000445915.2_Nonsense_Mutation_p.E389*	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	380					carbohydrate metabolic process (GO:0005975)|cellular glucuronidation (GO:0052695)|glucose 1-phosphate metabolic process (GO:0019255)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	glucose binding (GO:0005536)|metal ion binding (GO:0046872)|pyrimidine ribonucleotide binding (GO:0032557)|UTP:glucose-1-phosphate uridylyltransferase activity (GO:0003983)			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						CAAAAGTTTTGAGAATTCTCT	0.423																																						uc002scm.2		NaN																	0					0						c.(1138-1140)GAG>TAG		UDP-glucose pyrophosphorylase 2 isoform a							68.0	69.0	69.0					2																	64114602		2203	4300	6503	SO:0001587	stop_gained	7360				glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity	g.chr2:64114602G>T		CCDS1875.1, CCDS42690.1	2p14-p13	2012-10-02			ENSG00000169764	ENSG00000169764	2.7.7.9		12527	protein-coding gene	gene with protein product		191760	"""UDP-glucose pyrophosphorylase 1"""	UGP1			Standard	NM_006759		Approved	UGPP1	uc002scm.3	Q16851	OTTHUMG00000129513	ENST00000337130.5:c.1138G>T	2.37:g.64114602G>T	ENSP00000338703:p.Glu380*					UGP2_uc002scl.2_Nonsense_Mutation_p.E369*|UGP2_uc010ypx.1_Nonsense_Mutation_p.E389*	p.E380*	NM_006759	NP_006750	Q16851	UGPA_HUMAN			8	1444	+			380					Q07131|Q0P6K2|Q86Y81|Q9BU15	Nonsense_Mutation	SNP	ENST00000337130.5	37	c.1138G>T	CCDS1875.1	.	.	.	.	.	.	.	.	.	.	G	38	7.098793	0.98063	.	.	ENSG00000169764	ENST00000394417;ENST00000467648;ENST00000337130;ENST00000445915	.	.	.	5.73	5.73	0.89815	.	0.133960	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-2.9396	19.9023	0.96990	0.0:0.0:1.0:0.0	.	.	.	.	X	369;369;380;389	.	ENSP00000338703:E380X	E	+	1	0	UGP2	63968106	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.781000	0.85668	2.693000	0.91896	0.650000	0.86243	GAG		0.423	UGP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251688.1		NM_006759		36	79	1	0	6.84511e-11	0.003271	7.1685e-11	36	79		
SPRED2	200734	broad.mit.edu	37	2	65571896	65571896	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr2:65571896C>T	ENST00000356388.4	-	2	350	c.161G>A	c.(160-162)cGa>cAa	p.R54Q	SPRED2_ENST00000474228.1_5'UTR|SPRED2_ENST00000443619.2_Missense_Mutation_p.R51Q	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	54	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						AAAGCCGCTTCGTCCATTGCC	0.512																																						uc002sdr.3		NaN																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(160-162)CGA>CAA		sprouty-related protein with EVH-1 domain 2							115.0	99.0	104.0					2																	65571896		2203	4300	6503	SO:0001583	missense	200734				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding	g.chr2:65571896C>T	AF052178	CCDS33211.1, CCDS46308.1	2p14	2003-06-02			ENSG00000198369	ENSG00000198369			17722	protein-coding gene	gene with protein product		609292					Standard	NM_181784		Approved	Spred-2, FLJ21897, FLJ31917	uc002sdr.4	Q7Z698	OTTHUMG00000152737	ENST00000356388.4:c.161G>A	2.37:g.65571896C>T	ENSP00000348753:p.Arg54Gln					SPRED2_uc010fcw.2_Missense_Mutation_p.R51Q|SPRED2_uc010fcx.1_RNA	p.R54Q	NM_181784	NP_861449	Q7Z698	SPRE2_HUMAN			2	696	-			54			WH1.		A1L3V4|B7Z5K7|D6W5F7|E9PEP0|Q2NKX6	Missense_Mutation	SNP	ENST00000356388.4	37	c.161G>A	CCDS33211.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.99|14.99	2.699736|2.699736	0.48307|0.48307	.|.	.|.	ENSG00000198369|ENSG00000198369	ENST00000427238|ENST00000356388;ENST00000443619;ENST00000452315;ENST00000440972	.|D;D;D;D	.|0.98550	.|-4.99;-4.99;-4.99;-4.99	4.98|4.98	4.98|4.98	0.66077|0.66077	.|EVH1 (2);Pleckstrin homology-type (1);	.|0.114356	.|0.51477	.|D	.|0.000086	D|D	0.96629|0.96629	0.8900|0.8900	L|L	0.31294|0.31294	0.92|0.92	0.58432|0.58432	D|D	0.999992|0.999992	.|B;D	.|0.60575	.|0.33;0.988	.|B;P	.|0.50082	.|0.063;0.63	D|D	0.95607|0.95607	0.8668|0.8668	5|10	.|0.17832	.|T	.|0.49	-7.069|-7.069	18.2435|18.2435	0.89977|0.89977	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|51;54	.|E9PEP0;Q7Z698	.|.;SPRE2_HUMAN	K|Q	9|54;51;69;54	.|ENSP00000348753:R54Q;ENSP00000393697:R51Q;ENSP00000390595:R69Q;ENSP00000406481:R54Q	.|ENSP00000348753:R54Q	E|R	-|-	1|2	0|0	SPRED2|SPRED2	65425400|65425400	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.954000|0.954000	0.61252|0.61252	3.770000|3.770000	0.55310|0.55310	2.281000|2.281000	0.76405|0.76405	0.305000|0.305000	0.20034|0.20034	GAA|CGA		0.512	SPRED2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327632.1				14	22	0	0	0	0.003163	0	14	22		
TANC1	85461	broad.mit.edu	37	2	160006935	160006935	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr2:160006935G>A	ENST00000263635.6	+	7	787	c.550G>A	c.(550-552)Gca>Aca	p.A184T	TANC1_ENST00000454300.1_Intron	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	184	Ser-rich.				dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						AAGCAGCACCGCATCTCCTAG	0.527																																						uc002uag.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(550-552)GCA>ACA		tetratricopeptide repeat, ankyrin repeat and							71.0	72.0	72.0					2																	160006935		2134	4252	6386	SO:0001583	missense	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160006935G>A	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.550G>A	2.37:g.160006935G>A	ENSP00000263635:p.Ala184Thr					TANC1_uc010fol.1_Intron|TANC1_uc010zcm.1_Missense_Mutation_p.A183T|TANC1_uc010fom.1_Intron|TANC1_uc002uah.1_3'UTR	p.A184T	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN			7	824	+			184			Ser-rich.		C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	c.550G>A	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.999857	0.54147	.	.	ENSG00000115183	ENST00000263635	T	0.68765	-0.35	5.46	4.37	0.52481	.	0.240766	0.36665	N	0.002479	T	0.47673	0.1458	N	0.20766	0.605	0.80722	D	1	B;B	0.18863	0.016;0.031	B;B	0.19391	0.008;0.025	T	0.44174	-0.9345	10	0.40728	T	0.16	.	7.2544	0.26168	0.1895:0.0:0.8105:0.0	.	183;184	B9EK39;Q9C0D5	.;TANC1_HUMAN	T	184	ENSP00000263635:A184T	ENSP00000263635:A184T	A	+	1	0	TANC1	159715181	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.593000	0.54001	2.733000	0.93635	0.655000	0.94253	GCA		0.527	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1				26	51	0	0	0	0.007291	0	26	51		
TLK1	9874	broad.mit.edu	37	2	172016855	172016855	+	Silent	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr2:172016855C>T	ENST00000431350.2	-	1	488	c.84G>A	c.(82-84)gcG>gcA	p.A28A	TLK1_ENST00000442919.2_5'UTR|TLK1_ENST00000360843.3_Silent_p.A28A|TLK1_ENST00000521943.1_Intron			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	28					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TGGCCGCCGCCGCCGAGCCCG	0.682																																						uc002ugn.2		NaN																	0				central_nervous_system(1)	1						c.(82-84)GCG>GCA		tousled-like kinase 1 isoform 1							29.0	38.0	35.0					2																	172016855		2202	4299	6501	SO:0001819	synonymous_variant	9874				cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:172016855C>T	AB004885	CCDS2241.1, CCDS46447.1, CCDS46448.1	2q31.1	2010-04-19			ENSG00000198586	ENSG00000198586			11841	protein-coding gene	gene with protein product		608438				9427565, 12660173	Standard	NM_012290		Approved	KIAA0137, PKU-BETA	uc002ugp.2	Q9UKI8	OTTHUMG00000132243	ENST00000431350.2:c.84G>A	2.37:g.172016855C>T						TLK1_uc002ugo.2_Silent_p.A28A|TLK1_uc002ugp.2_Intron|TLK1_uc002ugq.2_RNA	p.A28A	NM_012290	NP_036422	Q9UKI8	TLK1_HUMAN			1	556	-			28					B3KR15|B4DX87|Q14150|Q8N591|Q9NYH2|Q9Y4F6	Silent	SNP	ENST00000431350.2	37	c.84G>A	CCDS2241.1																																																																																				0.682	TLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255314.1		NM_012290		4	50	0	0	0	0.009096	0	4	50		
COL3A1	1281	broad.mit.edu	37	2	189876410	189876410	+	Silent	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr2:189876410G>C	ENST00000304636.3	+	51	4481	c.4311G>C	c.(4309-4311)gtG>gtC	p.V1437V	COL3A1_ENST00000317840.5_Silent_p.V1134V	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1437	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	GCAAGGCTGTGAGACTACCTA	0.393																																						uc002uqj.1		NaN																	0				central_nervous_system(7)|ovary(4)|large_intestine(2)	13						c.(4309-4311)GTG>GTC		collagen type III alpha 1 preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						228.0	206.0	214.0					2																	189876410		2203	4300	6503	SO:0001819	synonymous_variant	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189876410G>C	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.4311G>C	2.37:g.189876410G>C							p.V1437V	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		51	4428	+			1437			Fibrillar collagen NC1.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Silent	SNP	ENST00000304636.3	37	c.4311G>C	CCDS2297.1																																																																																				0.393	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3		NM_000090		36	83	0	0	0	0.005524	0	36	83		
ZDBF2	57683	broad.mit.edu	37	2	207171761	207171761	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr2:207171761C>G	ENST00000374423.3	+	5	2895	c.2509C>G	c.(2509-2511)Ctt>Gtt	p.L837V		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	837							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TGATATTCCTCTTCATTCAGG	0.358																																						uc002vbp.2		NaN																	0				ovary(3)	3						c.(2509-2511)CTT>GTT		zinc finger, DBF-type containing 2							53.0	52.0	52.0					2																	207171761		1834	4078	5912	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207171761C>G	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.2509C>G	2.37:g.207171761C>G	ENSP00000363545:p.Leu837Val						p.L837V	NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN			5	2759	+			837					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.2509C>G	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	C	7.002	0.555130	0.13436	.	.	ENSG00000204186	ENST00000374423	T	0.62788	0.0	4.57	-0.339	0.12647	.	0.222293	0.23134	N	0.051551	T	0.35038	0.0918	L	0.27053	0.805	0.19575	N	0.999963	B	0.33266	0.404	B	0.24848	0.056	T	0.25882	-1.0119	10	0.10377	T	0.69	.	5.6256	0.17480	0.0:0.4804:0.2858:0.2337	.	837	Q9HCK1	ZDBF2_HUMAN	V	837	ENSP00000363545:L837V	ENSP00000363545:L837V	L	+	1	0	ZDBF2	206880006	0.469000	0.25846	0.442000	0.26870	0.825000	0.46686	0.318000	0.19504	-0.073000	0.12842	0.655000	0.94253	CTT		0.358	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1		NM_020923		29	46	0	0	0	0.008361	0	29	46		
DOCK10	55619	broad.mit.edu	37	2	225796298	225796298	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr2:225796298C>G	ENST00000258390.7	-	2	278	c.211G>C	c.(211-213)Gat>Cat	p.D71H	DOCK10_ENST00000474102.1_5'UTR|DOCK10_ENST00000409592.3_Missense_Mutation_p.D65H	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	71					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AACAAGAGATCTTGAAGAGGA	0.428																																						uc010fwz.1		NaN																	0				ovary(2)	2						c.(211-213)GAT>CAT		dedicator of cytokinesis 10							98.0	97.0	98.0					2																	225796298		1868	4111	5979	SO:0001583	missense	55619						GTP binding	g.chr2:225796298C>G	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.211G>C	2.37:g.225796298C>G	ENSP00000258390:p.Asp71His					DOCK10_uc002vob.2_Missense_Mutation_p.D65H|DOCK10_uc002vod.1_Missense_Mutation_p.D71H	p.D71H	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	2	450	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	71					B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.211G>C	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.567997	0.86439	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.47869	0.83;0.83	5.59	5.59	0.84812	.	0.208576	0.49916	D	0.000132	T	0.67439	0.2893	L	0.57536	1.79	0.48185	D	0.999604	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.78314	0.987;0.961;0.991	T	0.68187	-0.5475	10	0.87932	D	0	.	19.5545	0.95338	0.0:1.0:0.0:0.0	.	71;71;65	Q96BY6;Q96BY6-2;B3FL70	DOC10_HUMAN;.;.	H	65;71	ENSP00000386694:D65H;ENSP00000258390:D71H	ENSP00000258390:D71H	D	-	1	0	DOCK10	225504542	1.000000	0.71417	0.949000	0.38748	0.987000	0.75469	5.760000	0.68793	2.797000	0.96272	0.563000	0.77884	GAT		0.428	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1				7	18	0	0	0	0.00308	0	7	18		
COL6A3	1293	broad.mit.edu	37	2	238305397	238305397	+	Missense_Mutation	SNP	T	T	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr2:238305397T>C	ENST00000295550.4	-	2	516	c.64A>G	c.(64-66)Aca>Gca	p.T22A	COL6A3_ENST00000392003.2_Missense_Mutation_p.T22A|COL6A3_ENST00000472056.1_Missense_Mutation_p.T22A|COL6A3_ENST00000409809.1_Missense_Mutation_p.T22A|COL6A3_ENST00000347401.3_Missense_Mutation_p.T22A|COL6A3_ENST00000353578.4_Missense_Mutation_p.T22A|COL6A3_ENST00000346358.4_Missense_Mutation_p.T22A|COL6A3_ENST00000392004.3_Missense_Mutation_p.T22A	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	22					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCATGAGTTGTAGGAAAGCCT	0.418																																						uc002vwl.2		NaN																	0				ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(64-66)ACA>GCA		alpha 3 type VI collagen isoform 1 precursor							120.0	122.0	122.0					2																	238305397		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238305397T>C	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.64A>G	2.37:g.238305397T>C	ENSP00000295550:p.Thr22Ala					COL6A3_uc002vwo.2_Missense_Mutation_p.T22A|COL6A3_uc010znj.1_Missense_Mutation_p.T22A|COL6A3_uc002vwq.2_Missense_Mutation_p.T22A|COL6A3_uc002vwr.2_Missense_Mutation_p.T22A|COL6A3_uc010znk.1_Missense_Mutation_p.T22A	p.T22A	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	2	349	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	22					A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.64A>G	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	T	5.136	0.210667	0.09757	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003;ENST00000433762	T;T;T;D;T;T;T;T;T	0.87334	-1.07;-1.07;-1.14;-2.24;-1.14;-1.07;-1.14;0.11;-1.07	5.46	-3.61	0.04556	.	2.783340	0.01449	N	0.015391	T	0.72003	0.3407	L	0.36672	1.1	0.09310	N	1	B;B;B;B;P;B	0.39404	0.0;0.157;0.029;0.024;0.672;0.0	B;B;B;B;B;B	0.30572	0.0;0.117;0.017;0.009;0.11;0.0	T	0.64871	-0.6305	10	0.08837	T	0.75	.	0.1533	0.00095	0.3333:0.1683:0.1873:0.3111	.	22;22;22;22;22;22	E9PCV6;E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;.;CO6A3_HUMAN	A	22	ENSP00000295550:T22A;ENSP00000315609:T22A;ENSP00000315873:T22A;ENSP00000418285:T22A;ENSP00000386844:T22A;ENSP00000295546:T22A;ENSP00000375861:T22A;ENSP00000375860:T22A;ENSP00000389539:T22A	ENSP00000295550:T22A	T	-	1	0	COL6A3	237970136	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	0.637000	0.24659	-0.507000	0.06549	0.528000	0.53228	ACA		0.418	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2		NM_004369		54	89	0	0	0	0.01441	0	54	89		
ANKMY1	51281	broad.mit.edu	37	2	241421610	241421610	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr2:241421610C>A	ENST00000272972.3	-	15	2822	c.2608G>T	c.(2608-2610)Gag>Tag	p.E870*	ANKMY1_ENST00000406958.1_Nonsense_Mutation_p.E631*|ANKMY1_ENST00000403283.1_Nonsense_Mutation_p.E772*|ANKMY1_ENST00000361678.4_Nonsense_Mutation_p.E646*|ANKMY1_ENST00000391987.1_Nonsense_Mutation_p.E870*|ANKMY1_ENST00000401804.1_Nonsense_Mutation_p.E959*|ANKMY1_ENST00000373320.4_Nonsense_Mutation_p.E640*|ANKMY1_ENST00000373318.2_Nonsense_Mutation_p.E649*	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	870							metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		TGCCCCTGCTCCTTCACATCC	0.612																																						uc002vyz.1		NaN																	0				central_nervous_system(1)	1						c.(2608-2610)GAG>TAG		ankyrin repeat and MYND domain containing 1							105.0	97.0	99.0					2																	241421610		2203	4300	6503	SO:0001587	stop_gained	51281						zinc ion binding	g.chr2:241421610C>A	AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.2608G>T	2.37:g.241421610C>A	ENSP00000272972:p.Glu870*					ANKMY1_uc002vza.1_Nonsense_Mutation_p.E646*|ANKMY1_uc010fzd.1_Nonsense_Mutation_p.E959*|ANKMY1_uc002vzb.1_Nonsense_Mutation_p.E631*|ANKMY1_uc002vzc.1_Nonsense_Mutation_p.E649*|ANKMY1_uc002vzd.1_Nonsense_Mutation_p.E693*	p.E870*	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)	15	2837	-		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	870					B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Nonsense_Mutation	SNP	ENST00000272972.3	37	c.2608G>T	CCDS2536.1	.	.	.	.	.	.	.	.	.	.	C	37	6.039881	0.97226	.	.	ENSG00000144504	ENST00000373318;ENST00000406958;ENST00000272972;ENST00000361678;ENST00000391987;ENST00000373320;ENST00000403283;ENST00000401804	.	.	.	2.01	2.01	0.26516	.	0.687540	0.12752	U	0.442092	.	.	.	.	.	.	0.20196	N	0.999928	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.0675	7.5666	0.27883	0.0:1.0:0.0:0.0	.	.	.	.	X	649;631;870;646;870;640;772;959	.	ENSP00000272972:E870X	E	-	1	0	ANKMY1	241070283	0.006000	0.16342	0.006000	0.13384	0.063000	0.16089	1.104000	0.31074	1.468000	0.48064	0.467000	0.42956	GAG		0.612	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2		NM_017844		34	70	1	0	1.30998e-17	0.005524	1.41649e-17	34	70		
PASK	23178	broad.mit.edu	37	2	242082263	242082263	+	Missense_Mutation	SNP	G	G	A	rs144572631	byFrequency	TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr2:242082263G>A	ENST00000405260.1	-	2	883	c.185C>T	c.(184-186)aCa>aTa	p.T62I	PASK_ENST00000539818.1_Intron|PASK_ENST00000358649.4_Missense_Mutation_p.T62I|PASK_ENST00000403638.3_Missense_Mutation_p.T62I|PASK_ENST00000234040.4_Missense_Mutation_p.T62I|PASK_ENST00000544142.1_Nonsense_Mutation_p.Q11*	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	62					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.T62I(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		AGAGAGCGCTGTCCTGCTCTG	0.562													G|||	2	0.000399361	0.0	0.0	5008	,	,		20364	0.0		0.002	False		,,,				2504	0.0					uc002wao.1		NaN																	2	Substitution - Missense(2)		large_intestine(2)	ovary(4)|lung(1)|skin(1)	6						c.(184-186)ACA>ATA		PAS domain containing serine/threonine kinase		G	ILE/THR	0,4406		0,0,2203	84.0	71.0	75.0		185	-4.0	0.0	2	dbSNP_134	75	2,8598	2.2+/-6.3	0,2,4298	yes	missense	PASK	NM_015148.2	89	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	62/1324	242082263	2,13004	2203	4300	6503	SO:0001583	missense	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242082263G>A	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.185C>T	2.37:g.242082263G>A	ENSP00000384016:p.Thr62Ile					PASK_uc010zol.1_Nonsense_Mutation_p.Q11*|PASK_uc010zom.1_Missense_Mutation_p.T62I|PASK_uc010fzl.1_Missense_Mutation_p.T62I|PASK_uc010zon.1_Intron|PASK_uc002waq.2_Missense_Mutation_p.T62I	p.T62I	NM_015148	NP_055963	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	2	277	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	62					G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	37	c.185C>T	CCDS2545.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.2|22.2	4.256444|4.256444	0.80246|0.80246	0.0|0.0	2.33E-4|2.33E-4	ENSG00000115687|ENSG00000115687	ENST00000544142|ENST00000234040;ENST00000405260;ENST00000358649;ENST00000403638;ENST00000452907	.|T;T;T;T	.|0.67523	.|-0.27;-0.27;-0.23;0.71	4.18|4.18	-3.97|-3.97	0.04094|0.04094	.|.	.|1.245370	.|0.05571	.|N	.|0.571164	.|T	.|0.44644	.|0.1303	N|N	0.12182|0.12182	0.205|0.205	0.09310|0.09310	N|N	0.999999|0.999999	.|B;B;B;B	.|0.17852	.|0.024;0.017;0.008;0.024	.|B;B;B;B	.|0.14578	.|0.005;0.007;0.011;0.005	.|T	.|0.31081	.|-0.9956	.|10	0.87932|0.14656	D|T	0|0.56	.|.	11.1762|11.1762	0.48601|0.48601	0.2968:0.0:0.7032:0.0|0.2968:0.0:0.7032:0.0	.|.	.|62;62;62;62	.|B7Z7R6;Q96RG2-2;G5E9F1;Q96RG2	.|.;.;.;PASK_HUMAN	X|I	11|62	.|ENSP00000234040:T62I;ENSP00000384016:T62I;ENSP00000351475:T62I;ENSP00000384438:T62I	ENSP00000441374:Q11X|ENSP00000234040:T62I	Q|T	-|-	1|2	0|0	PASK|PASK	241730936|241730936	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.172000|0.172000	0.22775|0.22775	-0.008000|-0.008000	0.12788|0.12788	-0.905000|-0.905000	0.03871|0.03871	-0.367000|-0.367000	0.07326|0.07326	CAG|ACA		0.562	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1		NM_015148		4	50	0	0	0	0.009096	0	4	50		
PAK7	57144	broad.mit.edu	37	20	9561367	9561367	+	Missense_Mutation	SNP	C	C	A	rs144997856		TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr20:9561367C>A	ENST00000378429.3	-	5	961	c.415G>T	c.(415-417)Gct>Tct	p.A139S	PAK7_ENST00000378423.1_Missense_Mutation_p.A139S|PAK7_ENST00000353224.5_Missense_Mutation_p.A139S	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	139	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GTGTAGTCAGCAGTAGTATCG	0.537																																						uc002wnl.2		NaN																	0				lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23						c.(415-417)GCT>TCT		p21-activated kinase 7		C	SER/ALA,SER/ALA	1,4405	2.1+/-5.4	0,1,2202	196.0	193.0	194.0		415,415	0.7	0.0	20	dbSNP_134	194	0,8600		0,0,4300	no	missense,missense	PAK7	NM_020341.3,NM_177990.2	99,99	0,1,6502	AA,AC,CC		0.0,0.0227,0.0077	benign,benign	139/720,139/720	9561367	1,13005	2203	4300	6503	SO:0001583	missense	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9561367C>A	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.415G>T	20.37:g.9561367C>A	ENSP00000367686:p.Ala139Ser					PAK7_uc002wnk.2_Missense_Mutation_p.A139S|PAK7_uc002wnj.2_Missense_Mutation_p.A139S|PAK7_uc010gby.1_Missense_Mutation_p.A139S	p.A139S	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		5	960	-			139			Linker.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	37	c.415G>T	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	C	3.241	-0.155294	0.06544	2.27E-4	0.0	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.45668	0.89;0.89;0.89	5.34	0.691	0.18045	.	0.471606	0.23668	N	0.045757	T	0.22936	0.0554	N	0.14661	0.345	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.12156	0.007;0.001	T	0.19418	-1.0306	9	.	.	.	.	11.7668	0.51935	0.0:0.6343:0.0:0.3657	.	139;139	B0AZM9;Q9P286	.;PAK7_HUMAN	S	139;139;139;87	ENSP00000367686:A139S;ENSP00000322957:A139S;ENSP00000367679:A139S	.	A	-	1	0	PAK7	9509367	0.010000	0.17322	0.011000	0.14972	0.437000	0.31866	0.259000	0.18405	0.236000	0.21180	0.563000	0.77884	GCT		0.537	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1				10	183	1	0	4.68919e-08	0.008291	4.87236e-08	10	183		
SSTR4	6754	broad.mit.edu	37	20	23017195	23017195	+	Missense_Mutation	SNP	T	T	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr20:23017195T>G	ENST00000255008.3	+	1	1139	c.1075T>G	c.(1075-1077)Tgc>Ggc	p.C359G	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	359					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TGGGGCAGGGTGCATGTGCCC	0.652																																					Esophageal Squamous(15;850 1104 16640)	uc002wsr.2		NaN																	0				ovary(1)	1						c.(1075-1077)TGC>GGC		somatostatin receptor 4							37.0	43.0	41.0					20																	23017195		2132	4241	6373	SO:0001583	missense	6754				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr20:23017195T>G		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.1075T>G	20.37:g.23017195T>G	ENSP00000255008:p.Cys359Gly						p.C359G	NM_001052	NP_001043	P31391	SSR4_HUMAN			1	1139	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		359			Cytoplasmic (Potential).		Q17RM1|Q17RM3|Q9UIY1	Missense_Mutation	SNP	ENST00000255008.3	37	c.1075T>G	CCDS42856.1	.	.	.	.	.	.	.	.	.	.	T	0.007	-1.973279	0.00452	.	.	ENSG00000132671	ENST00000255008	T	0.65364	-0.15	3.65	2.52	0.30459	.	0.732493	0.11694	N	0.538562	T	0.48572	0.1507	L	0.36672	1.1	0.23120	N	0.998266	B	0.17667	0.023	B	0.17722	0.019	T	0.32025	-0.9922	10	0.18276	T	0.48	.	8.9348	0.35693	0.0:0.0:0.1888:0.8112	.	359	P31391	SSR4_HUMAN	G	359	ENSP00000255008:C359G	ENSP00000255008:C359G	C	+	1	0	SSTR4	22965195	0.669000	0.27502	0.006000	0.13384	0.031000	0.12232	2.026000	0.41069	0.450000	0.26774	0.533000	0.62120	TGC		0.652	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1				40	28	0	0	0	0.013114	0	40	28		
HCK	3055	broad.mit.edu	37	20	30676371	30676371	+	Splice_Site	SNP	G	G	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr20:30676371G>T	ENST00000520553.1	+	10	1199	c.953G>T	c.(952-954)gGa>gTa	p.G318V	HCK_ENST00000534862.1_Splice_Site_p.G319V|HCK_ENST00000518730.1_Splice_Site_p.G317V|HCK_ENST00000538448.1_Splice_Site_p.G318V|HCK_ENST00000375862.2_Splice_Site_p.G338V|HCK_ENST00000375852.2_Splice_Site_p.G339V	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	339	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.G339E(1)|p.G318E(1)		NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	CCCCATATAGGAAGCTTGCTG	0.443																																						uc002wxh.2		NaN																	2	Substitution - Missense(2)		lung(2)	lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1)	9						c.(1015-1017)GGA>GTA		hemopoietic cell kinase isoform p61HCK							63.0	65.0	64.0					20																	30676371		2203	4300	6503	SO:0001630	splice_region_variant	3055				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr20:30676371G>T	AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"""SH2 domain containing"""	4840	protein-coding gene	gene with protein product		142370	"""hemopoietic cell kinase"""			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.953-1G>T	20.37:g.30676371G>T						HCK_uc010gdy.2_Missense_Mutation_p.G318V|HCK_uc002wxi.2_Missense_Mutation_p.G317V	p.G339V	NM_002110	NP_002101	P08631	HCK_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		10	1187	+			339			Protein kinase.		A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Missense_Mutation	SNP	ENST00000520553.1	37	c.1016G>T	CCDS54455.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.090360	0.76756	.	.	ENSG00000101336	ENST00000534862;ENST00000538448;ENST00000375862;ENST00000520553;ENST00000518730;ENST00000375852	D;D;D;D;D;D	0.90004	-2.6;-2.6;-2.6;-2.6;-2.6;-2.6	4.84	4.84	0.62591	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96806	0.8957	H	0.98629	4.285	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.989;0.994	D	0.98378	1.0557	9	.	.	.	.	16.6731	0.85271	0.0:0.0:1.0:0.0	.	317;339	P08631-3;P08631	.;HCK_HUMAN	V	319;318;338;318;317;339	ENSP00000444986:G319V;ENSP00000441169:G318V;ENSP00000365022:G338V;ENSP00000429848:G318V;ENSP00000427757:G317V;ENSP00000365012:G339V	.	G	+	2	0	HCK	30140032	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	9.256000	0.95535	2.505000	0.84491	0.549000	0.68633	GGA		0.443	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000375751.1			Missense_Mutation	29	99	1	0	6.38683e-12	0.008361	6.74166e-12	29	99		
RBM39	9584	broad.mit.edu	37	20	34312571	34312571	+	Missense_Mutation	SNP	T	T	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr20:34312571T>C	ENST00000253363.6	-	8	631	c.608A>G	c.(607-609)gAt>gGt	p.D203G	RBM39_ENST00000407261.4_Missense_Mutation_p.D46G|RBM39_ENST00000361162.6_Missense_Mutation_p.D203G|RBM39_ENST00000528062.3_Missense_Mutation_p.D181G			Q14498	RBM39_HUMAN	RNA binding motif protein 39	203	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					TGAGCTAACATCGACGAACTC	0.413																																						uc002xeb.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(607-609)GAT>GGT		RNA binding motif protein 39 isoform a							149.0	134.0	139.0					20																	34312571		2203	4300	6503	SO:0001583	missense	9584				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr20:34312571T>C	L10910	CCDS13265.1, CCDS13266.1, CCDS56186.1	20q11.22	2014-07-03	2006-07-11	2006-07-11	ENSG00000131051	ENSG00000131051		"""RNA binding motif (RRM) containing"""	15923	protein-coding gene	gene with protein product	"""coactivator of activating protein-1 and estrogen receptors"", ""functional spliceosome-associated protein 59"""	604739	"""RNA-binding region (RNP1, RRM) containing 2"""	RNPC2		8227358, 15694343, 21551269	Standard	NM_184234		Approved	CC1.3, HCC1, CAPER, fSAP59, CAPERalpha	uc002xeb.3	Q14498	OTTHUMG00000032358	ENST00000253363.6:c.608A>G	20.37:g.34312571T>C	ENSP00000253363:p.Asp203Gly					RBM39_uc002xdz.2_Missense_Mutation_p.D179G|RBM39_uc002xea.2_Missense_Mutation_p.D46G|RBM39_uc010gfn.2_Missense_Mutation_p.D46G|RBM39_uc010zvm.1_Missense_Mutation_p.D181G|RBM39_uc002xeg.2_Missense_Mutation_p.D181G|RBM39_uc002xec.2_Missense_Mutation_p.D203G|RBM39_uc002xed.2_5'UTR|RBM39_uc002xee.2_Missense_Mutation_p.D46G|RBM39_uc002xef.2_Missense_Mutation_p.D46G|RBM39_uc010zvn.1_Missense_Mutation_p.D46G	p.D203G	NM_184234	NP_909122	Q14498	RBM39_HUMAN			8	952	-	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)		203			RRM 1.		A2RRD3|A5D8W2|B0BLV3|E1P5S0|E1P5S1|Q14499	Missense_Mutation	SNP	ENST00000253363.6	37	c.608A>G	CCDS13266.1	.	.	.	.	.	.	.	.	.	.	T	32	5.105433	0.94245	.	.	ENSG00000131051	ENST00000253363;ENST00000361162;ENST00000528062;ENST00000407261;ENST00000374038;ENST00000427743	T;T;T;T;T;T	0.49720	0.77;0.77;0.77;3.14;0.77;0.77	5.35	5.35	0.76521	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.045986	0.85682	D	0.000000	T	0.71617	0.3361	M	0.84511	2.7	0.80722	D	1	D;D;P;D;B	0.76494	0.998;0.999;0.511;0.99;0.367	D;D;B;D;B	0.73708	0.948;0.981;0.281;0.924;0.285	T	0.76721	-0.2855	10	0.62326	D	0.03	.	15.6797	0.77357	0.0:0.0:0.0:1.0	.	181;181;203;203;179	B4DRA0;A2RRD3;Q14498-2;Q14498;B3KWX7	.;.;.;RBM39_HUMAN;.	G	203;203;181;46;202;181	ENSP00000253363:D203G;ENSP00000354437:D203G;ENSP00000436747:D181G;ENSP00000384541:D46G;ENSP00000363150:D202G;ENSP00000406801:D181G	ENSP00000253363:D203G	D	-	2	0	RBM39	33775985	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.963000	0.87922	2.155000	0.67459	0.451000	0.29950	GAT		0.413	RBM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078931.2		NM_184237		73	184	0	0	0	0.01441	0	73	184		
DLGAP4	22839	broad.mit.edu	37	20	35060846	35060846	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr20:35060846C>A	ENST00000373907.2	+	2	925	c.726C>A	c.(724-726)ttC>ttA	p.F242L	DLGAP4_ENST00000339266.5_Missense_Mutation_p.F242L|DLGAP4_ENST00000401952.2_Missense_Mutation_p.F242L|DLGAP4_ENST00000373913.3_Missense_Mutation_p.F242L			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	242					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CACGCTACTTCATGCACGCCT	0.637																																						uc002xff.2		NaN																	0				skin(2)|ovary(1)	3						c.(724-726)TTC>TTA		disks large-associated protein 4 isoform a							82.0	77.0	79.0					20																	35060846		2203	4300	6503	SO:0001583	missense	22839				cell-cell signaling	membrane	protein binding	g.chr20:35060846C>A	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.726C>A	20.37:g.35060846C>A	ENSP00000363014:p.Phe242Leu					DLGAP4_uc010zvp.1_Missense_Mutation_p.F242L	p.F242L	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN			3	1161	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	242					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Missense_Mutation	SNP	ENST00000373907.2	37	c.726C>A		.	.	.	.	.	.	.	.	.	.	C	14.59	2.580163	0.46006	.	.	ENSG00000080845	ENST00000373913;ENST00000401952;ENST00000373907;ENST00000339266	T;T;T;T	0.11712	2.75;2.75;2.76;2.76	4.51	4.51	0.55191	.	0.169565	0.53938	D	0.000051	T	0.15003	0.0362	L	0.52905	1.665	0.46396	D	0.999029	B	0.23185	0.081	B	0.26770	0.073	T	0.04041	-1.0982	10	0.56958	D	0.05	.	17.0947	0.86632	0.0:1.0:0.0:0.0	.	242	Q9Y2H0-1	.	L	242	ENSP00000363023:F242L;ENSP00000384954:F242L;ENSP00000363014:F242L;ENSP00000341633:F242L	ENSP00000341633:F242L	F	+	3	2	DLGAP4	34494260	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.546000	0.53656	2.438000	0.82558	0.462000	0.41574	TTC		0.637	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2		NM_014902		41	125	1	0	2.77807e-22	0.013114	3.05358e-22	41	125		
SLC12A5	57468	broad.mit.edu	37	20	44669042	44669042	+	Missense_Mutation	SNP	A	A	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr20:44669042A>G	ENST00000454036.2	+	7	761	c.712A>G	c.(712-714)Aag>Gag	p.K238E	SLC12A5_ENST00000243964.3_Missense_Mutation_p.K215E|SLC12A5_ENST00000372315.1_Missense_Mutation_p.K215E	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	238					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGCCATCTTCAAGGCAGAAGA	0.557																																						uc010zxl.1		NaN																	0				ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(712-714)AAG>GAG		solute carrier family 12 (potassium-chloride	Bumetanide(DB00887)|Potassium Chloride(DB00761)						228.0	201.0	210.0					20																	44669042		2203	4300	6503	SO:0001583	missense	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44669042A>G	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.712A>G	20.37:g.44669042A>G	ENSP00000387694:p.Lys238Glu					SLC12A5_uc002xra.2_Missense_Mutation_p.K215E|SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Missense_Mutation_p.K215E	p.K238E	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN			7	788	+		Myeloproliferative disorder(115;0.0122)	238			Cytoplasmic (Potential).		A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	c.712A>G	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	A	11.89	1.772791	0.31411	.	.	ENSG00000124140	ENST00000454036;ENST00000372315;ENST00000243964	D;D;D	0.98862	-5.19;-5.19;-5.19	5.14	5.14	0.70334	Amino acid permease domain (1);	0.260794	0.39759	N	0.001280	D	0.95645	0.8584	N	0.20986	0.625	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.11329	0.006;0.001;0.005	D	0.93757	0.7063	10	0.20519	T	0.43	.	14.2937	0.66298	1.0:0.0:0.0:0.0	.	238;215;215	Q9H2X9;Q9H2X9-2;A8K143	S12A5_HUMAN;.;.	E	238;215;215	ENSP00000387694:K238E;ENSP00000361389:K215E;ENSP00000243964:K215E	ENSP00000243964:K215E	K	+	1	0	SLC12A5	44102449	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.073000	0.41519	2.154000	0.67381	0.533000	0.62120	AAG		0.557	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1				91	282	0	0	0	0.01441	0	91	282		
SLC13A3	64849	broad.mit.edu	37	20	45216772	45216772	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr20:45216772G>C	ENST00000279027.4	-	8	1065	c.1047C>G	c.(1045-1047)ttC>ttG	p.F349L	SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000372121.1_Missense_Mutation_p.F299L|SLC13A3_ENST00000290317.5_Missense_Mutation_p.F302L|SLC13A3_ENST00000495082.1_Missense_Mutation_p.F302L|SLC13A3_ENST00000396360.1_Intron|SLC13A3_ENST00000464518.1_5'Flank|SLC13A3_ENST00000472148.1_Intron|SLC13A3_ENST00000413164.2_Missense_Mutation_p.F299L	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	349					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)	p.F349F(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	CAAACATGCAGAAAAGGATGA	0.592																																						uc002xsf.1		NaN																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(1)	1						c.(1045-1047)TTC>TTG		solute carrier family 13 member 3 isoform a	Succinic acid(DB00139)						91.0	82.0	85.0					20																	45216772		2203	4300	6503	SO:0001583	missense	64849					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	g.chr20:45216772G>C	AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"""Solute carriers"""	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.1047C>G	20.37:g.45216772G>C	ENSP00000279027:p.Phe349Leu					SLC13A3_uc010ghn.1_Missense_Mutation_p.F318L|SLC13A3_uc010zxw.1_Missense_Mutation_p.F299L|SLC13A3_uc002xsg.1_Missense_Mutation_p.F302L|SLC13A3_uc010gho.1_Intron|SLC13A3_uc010zxx.1_Missense_Mutation_p.F251L	p.F349L	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN			8	1085	-		Myeloproliferative disorder(115;0.0122)	349			Helical; (Potential).		B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Missense_Mutation	SNP	ENST00000279027.4	37	c.1047C>G	CCDS13400.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.15|17.15	3.314978|3.314978	0.60524|0.60524	.|.	.|.	ENSG00000158296|ENSG00000158296	ENST00000290317;ENST00000279027;ENST00000413164;ENST00000495082;ENST00000468915;ENST00000420568;ENST00000372121|ENST00000450298	T;T;T;T;T;T;T|.	0.35236|.	4.07;4.07;4.07;4.07;4.07;1.38;1.32|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	0.088124|.	0.85682|.	D|.	0.000000|.	D|D	0.83436|0.83436	0.5254|0.5254	M|M	0.84846|0.84846	2.72|2.72	0.80722|0.80722	D|D	1|1	P;B;B|.	0.45902|.	0.868;0.32;0.248|.	P;B;B|.	0.47626|.	0.552;0.221;0.208|.	D|D	0.84034|0.84034	0.0361|0.0361	10|5	0.87932|.	D|.	0|.	-24.6763|-24.6763	20.051|20.051	0.97627|0.97627	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	299;302;349|.	B4DIR8;F6WI18;Q8WWT9|.	.;.;S13A3_HUMAN|.	L|V	302;349;299;302;302;262;299|179	ENSP00000290317:F302L;ENSP00000279027:F349L;ENSP00000415852:F299L;ENSP00000419621:F302L;ENSP00000417784:F302L;ENSP00000395095:F262L;ENSP00000361193:F299L|.	ENSP00000279027:F349L|.	F|L	-|-	3|1	2|2	SLC13A3|SLC13A3	44650179|44650179	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.582000|0.582000	0.36321|0.36321	4.456000|4.456000	0.60081|0.60081	2.744000|2.744000	0.94065|0.94065	0.543000|0.543000	0.68304|0.68304	TTC|CTG		0.592	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2				14	58	0	0	0	0.003163	0	14	58		
KCNB1	3745	broad.mit.edu	37	20	47990422	47990422	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr20:47990422C>G	ENST00000371741.4	-	2	1841	c.1675G>C	c.(1675-1677)Gaa>Caa	p.E559Q		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	559					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	ATTTCAAGTTCTTCCTTTGGT	0.493																																						uc002xur.1		NaN																	0				pancreas(1)|skin(1)	2						c.(1675-1677)GAA>CAA		potassium voltage-gated channel, Shab-related							137.0	119.0	125.0					20																	47990422		2203	4300	6503	SO:0001583	missense	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47990422C>G	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.1675G>C	20.37:g.47990422C>G	ENSP00000360806:p.Glu559Gln					KCNB1_uc002xus.1_Missense_Mutation_p.E559Q	p.E559Q	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	1839	-			559			Cytoplasmic (Potential).		Q14193	Missense_Mutation	SNP	ENST00000371741.4	37	c.1675G>C	CCDS13418.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.733711	0.69189	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	T	0.39229	1.09	6.07	6.07	0.98685	.	1.439940	0.03687	N	0.246462	T	0.55721	0.1938	L	0.61387	1.9	0.80722	D	1	P	0.42337	0.776	B	0.43052	0.406	T	0.52719	-0.8538	10	0.31617	T	0.26	.	20.2543	0.98414	0.0:1.0:0.0:0.0	.	559	Q14721	KCNB1_HUMAN	Q	559;514	ENSP00000360806:E559Q	ENSP00000360806:E559Q	E	-	1	0	KCNB1	47423829	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	6.090000	0.71397	2.884000	0.98904	0.655000	0.94253	GAA		0.493	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3		NM_004975		81	174	0	0	0	0.01441	0	81	174		
LTN1	26046	broad.mit.edu	37	21	30307608	30307608	+	Silent	SNP	T	T	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr21:30307608T>C	ENST00000361371.5	-	27	4777	c.4698A>G	c.(4696-4698)tcA>tcG	p.S1566S	LTN1_ENST00000389194.2_Silent_p.S1612S			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1566					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TATGATAGACTGAACAAGCCA	0.343																																						uc002ymr.2		NaN																	0					0						c.(4834-4836)TCA>TCG		zinc finger protein 294							95.0	82.0	87.0					21																	30307608		2203	4300	6503	SO:0001819	synonymous_variant	26046						ligase activity|zinc ion binding	g.chr21:30307608T>C	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.4698A>G	21.37:g.30307608T>C							p.S1612S	NM_015565	NP_056380	O94822	LTN1_HUMAN			27	4849	-			1566					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Silent	SNP	ENST00000361371.5	37	c.4836A>G																																																																																					0.343	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1		NM_015565		15	34	0	0	0	0.00245	0	15	34		
HUNK	30811	broad.mit.edu	37	21	33368255	33368255	+	Missense_Mutation	SNP	G	G	T	rs377150590		TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr21:33368255G>T	ENST00000270112.2	+	10	1840	c.1480G>T	c.(1480-1482)Gac>Tac	p.D494Y		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	494					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						CAGCTTCCCCGACAAAGGTGG	0.602																																						uc002yph.2		NaN																	0				stomach(1)|skin(1)	2						c.(1480-1482)GAC>TAC		hormonally upregulated Neu-associated kinase							31.0	28.0	29.0					21																	33368255		2203	4300	6503	SO:0001583	missense	30811				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity	g.chr21:33368255G>T	AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"""hormonally upregulated Neu-associated kinase"""			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.1480G>T	21.37:g.33368255G>T	ENSP00000270112:p.Asp494Tyr						p.D494Y	NM_014586	NP_055401	P57058	HUNK_HUMAN			10	1840	+			494						Missense_Mutation	SNP	ENST00000270112.2	37	c.1480G>T	CCDS13610.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.472323	0.63737	.	.	ENSG00000142149	ENST00000270112;ENST00000439107	T	0.69685	-0.42	4.34	4.34	0.51931	.	0.135265	0.47455	D	0.000225	T	0.66297	0.2775	N	0.19112	0.55	0.43471	D	0.995684	D	0.65815	0.995	P	0.58013	0.831	T	0.72194	-0.4364	10	0.72032	D	0.01	-36.185	15.2373	0.73441	0.0:0.0:1.0:0.0	.	494	P57058	HUNK_HUMAN	Y	494;108	ENSP00000270112:D494Y	ENSP00000270112:D494Y	D	+	1	0	HUNK	32290126	1.000000	0.71417	0.932000	0.37286	0.649000	0.38597	5.815000	0.69215	2.240000	0.73641	0.655000	0.94253	GAC		0.602	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192782.1		NM_014586		10	24	1	0	7.48243e-07	0.006214	7.71444e-07	10	24		
UBASH3A	53347	broad.mit.edu	37	21	43838679	43838679	+	Missense_Mutation	SNP	C	C	T	rs141628178	byFrequency	TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr21:43838679C>T	ENST00000319294.6	+	7	1038	c.1007C>T	c.(1006-1008)aCg>aTg	p.T336M	UBASH3A_ENST00000291535.6_Missense_Mutation_p.T298M|UBASH3A_ENST00000398367.1_Missense_Mutation_p.T298M|RNU6-1149P_ENST00000516810.1_RNA	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	336	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of T cell receptor signaling pathway (GO:0050860)|regulation of cytokine production (GO:0001817)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						GAAAACTACACGGATCGAGCC	0.612																																						uc002zbe.2		NaN																	0				ovary(3)	3						c.(1006-1008)ACG>ATG		ubiquitin associated and SH3 domain containing,		C	MET/THR,MET/THR	2,4404	4.2+/-10.8	0,2,2201	39.0	42.0	41.0		893,1007	3.5	0.8	21	dbSNP_134	41	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	UBASH3A	NM_001001895.2,NM_018961.3	81,81	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	possibly-damaging,possibly-damaging	298/624,336/662	43838679	3,13003	2203	4300	6503	SO:0001583	missense	53347					cytosol|nucleus		g.chr21:43838679C>T	AJ277750	CCDS13687.1, CCDS33566.1, CCDS58791.1	21q22.3	2010-04-28	2010-04-28		ENSG00000160185	ENSG00000160185			12462	protein-coding gene	gene with protein product		605736				11281453	Standard	NM_018961		Approved	STS-2, TULA, CLIP4	uc002zbf.3	P57075	OTTHUMG00000086805	ENST00000319294.6:c.1007C>T	21.37:g.43838679C>T	ENSP00000317327:p.Thr336Met					UBASH3A_uc002zbf.2_Missense_Mutation_p.T298M|UBASH3A_uc010gpc.2_RNA|UBASH3A_uc010gpd.2_RNA|UBASH3A_uc010gpe.2_Missense_Mutation_p.T298M	p.T336M	NM_018961	NP_061834	P57075	UBS3A_HUMAN			7	1043	+			336			SH3.		G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Missense_Mutation	SNP	ENST00000319294.6	37	c.1007C>T	CCDS13687.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.834639	0.50951	4.54E-4	1.16E-4	ENSG00000160185	ENST00000291535;ENST00000319294;ENST00000398367	T;T;T	0.50813	0.73;0.73;0.73	5.29	3.47	0.39725	Src homology-3 domain (3);	0.091707	0.47852	D	0.000217	T	0.50343	0.1610	M	0.71206	2.165	0.80722	D	1	D;D;D	0.63880	0.98;0.993;0.988	B;P;B	0.48304	0.434;0.573;0.391	T	0.53479	-0.8433	10	0.52906	T	0.07	-22.5108	8.6761	0.34181	0.0:0.771:0.0:0.229	.	298;298;336	G5E9E4;P57075-2;P57075	.;.;UBS3A_HUMAN	M	298;336;298	ENSP00000291535:T298M;ENSP00000317327:T336M;ENSP00000381408:T298M	ENSP00000291535:T298M	T	+	2	0	UBASH3A	42711748	0.993000	0.37304	0.847000	0.33407	0.645000	0.38454	2.786000	0.47790	1.222000	0.43521	0.591000	0.81541	ACG		0.612	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195382.1		NM_001001895		20	28	0	0	0	0.014323	0	20	28		
LSS	4047	broad.mit.edu	37	21	47648499	47648499	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr21:47648499C>A	ENST00000397728.3	-	2	107	c.29G>T	c.(28-30)cGa>cTa	p.R10L	MCM3AP-AS1_ENST00000444998.1_RNA|LSS_ENST00000464357.1_5'UTR|MCM3AP-AS1_ENST00000432735.1_RNA|LSS_ENST00000522411.1_Missense_Mutation_p.R10L|LSS_ENST00000457828.2_5'UTR|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000420074.1_RNA|LSS_ENST00000356396.4_Missense_Mutation_p.R10L|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	10					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020)	lanosterol synthase activity (GO:0000250)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					GGGGCCCCCTCGGCGCCGCAG	0.746																																					Pancreas(114;955 2313 34923 50507)	uc002zij.2		NaN																	0					0						c.(28-30)CGA>CTA		lanosterol synthase isoform 1							6.0	9.0	8.0					21																	47648499		2071	4086	6157	SO:0001583	missense	4047				cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity	g.chr21:47648499C>A	U22526	CCDS13733.1, CCDS46654.1, CCDS54489.1	21q22.3	1998-05-07			ENSG00000160285	ENSG00000160285	5.4.99.7		6708	protein-coding gene	gene with protein product		600909				7639730, 8655142	Standard	NM_001001438		Approved	OSC	uc002zij.3	P48449	OTTHUMG00000090633	ENST00000397728.3:c.29G>T	21.37:g.47648499C>A	ENSP00000380837:p.Arg10Leu					LSS_uc011afv.1_Missense_Mutation_p.R10L|LSS_uc002zil.2_Missense_Mutation_p.R10L|LSS_uc002zik.2_5'UTR|MCM3APAS_uc002zim.2_5'Flank|MCM3APAS_uc002zin.2_5'Flank	p.R10L	NM_001001438	NP_001001438	P48449	ERG7_HUMAN			2	108	-	Breast(49;0.214)		10					B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1	Missense_Mutation	SNP	ENST00000397728.3	37	c.29G>T	CCDS13733.1	.	.	.	.	.	.	.	.	.	.	C	36	5.690480	0.96793	.	.	ENSG00000160285	ENST00000356396;ENST00000397728;ENST00000522411;ENST00000450351	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.44519	0.1297	M	0.70595	2.14	0.80722	D	1	D;D	0.67145	0.996;0.993	D;P	0.63381	0.914;0.822	T	0.43861	-0.9365	10	0.62326	D	0.03	.	16.9657	0.86285	0.0:1.0:0.0:0.0	.	10;10	E9PEI9;P48449	.;ERG7_HUMAN	L	10;10;10;11	ENSP00000348762:R10L;ENSP00000380837:R10L;ENSP00000429133:R10L;ENSP00000391368:R11L	ENSP00000348762:R10L	R	-	2	0	LSS	46472927	0.894000	0.30519	0.667000	0.29798	0.653000	0.38743	4.342000	0.59341	2.310000	0.77875	0.462000	0.41574	CGA		0.746	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207274.2				5	8	1	0	1.23904e-05	0.000602	1.26278e-05	5	8		
PEX26	55670	broad.mit.edu	37	22	18567938	18567938	+	Missense_Mutation	SNP	C	C	T	rs149153003	byFrequency	TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr22:18567938C>T	ENST00000329627.7	+	5	934	c.728C>T	c.(727-729)gCg>gTg	p.A243V	PEX26_ENST00000399744.3_Missense_Mutation_p.A243V|PEX26_ENST00000428061.2_Intron	NM_017929.5	NP_060399.1	Q7Z412	PEX26_HUMAN	peroxisomal biogenesis factor 26	243					protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome membrane (GO:0045046)	integral component of peroxisomal membrane (GO:0005779)|peroxisome (GO:0005777)	ATPase binding (GO:0051117)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)	p.A243V(1)		breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TGGGACTCTGCGGTGAGCCAC	0.542													C|||	3	0.000599042	0.0	0.0	5008	,	,		20021	0.0		0.002	False		,,,				2504	0.001					uc002znp.3		NaN																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(727-729)GCG>GTG		peroxisome biogenesis factor 26		C	VAL/ALA,,VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	147.0	121.0	130.0		728,,728	-2.0	0.0	22	dbSNP_134	130	15,8585	11.9+/-42.8	0,15,4285	yes	missense,intron,missense	PEX26	NM_001127649.2,NM_001199319.1,NM_017929.5	64,,64	0,17,6486	TT,TC,CC		0.1744,0.0454,0.1307	benign,,benign	243/306,,243/306	18567938	17,12989	2203	4300	6503	SO:0001583	missense	55670				protein import into peroxisome matrix|protein import into peroxisome membrane	integral to peroxisomal membrane	protein C-terminus binding|protein complex binding	g.chr22:18567938C>T	AB089678	CCDS13750.1, CCDS56221.1	22q11.21	2008-08-26	2008-08-26		ENSG00000215193	ENSG00000215193			22965	protein-coding gene	gene with protein product		608666	"""peroxisome biogenesis factor 26"""			12717447, 12851857	Standard	NM_017929		Approved	FLJ20695	uc002znp.4	Q7Z412	OTTHUMG00000149970	ENST00000329627.7:c.728C>T	22.37:g.18567938C>T	ENSP00000331106:p.Ala243Val					TUBA8_uc002znr.2_Intron|PEX26_uc002znq.3_Missense_Mutation_p.A243V|PEX26_uc002znt.2_Intron	p.A243V	NM_017929	NP_060399	Q7Z412	PEX26_HUMAN			5	937	+			243			Cytoplasmic (Potential).		F6UBB5|Q7Z413|Q7Z414|Q7Z415|Q7Z416|Q96B12|Q9NWQ0|Q9NXU0	Missense_Mutation	SNP	ENST00000329627.7	37	c.728C>T	CCDS13750.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	11.21	1.570726	0.28003	4.54E-4	0.001744	ENSG00000215193	ENST00000329627;ENST00000399744;ENST00000399746	D;D	0.93906	-3.31;-3.31	5.77	-1.98	0.07480	.	1.130330	0.06908	N	0.807127	T	0.80243	0.4587	N	0.05124	-0.11	0.09310	N	1	B	0.19583	0.037	B	0.12837	0.008	T	0.70107	-0.4963	10	0.08179	T	0.78	7.5165	5.1476	0.14993	0.0:0.3426:0.1547:0.5026	.	243	Q7Z412	PEX26_HUMAN	V	243	ENSP00000331106:A243V;ENSP00000382648:A243V	ENSP00000331106:A243V	A	+	2	0	PEX26	16947938	0.001000	0.12720	0.002000	0.10522	0.756000	0.42949	0.362000	0.20284	0.088000	0.17205	0.655000	0.94253	GCG		0.542	PEX26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314644.3		NM_017929		5	85	0	0	0	0.000602	0	5	85		
CDC45	8318	broad.mit.edu	37	22	19504100	19504100	+	Silent	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr22:19504100G>A	ENST00000407835.1	+	17	1747	c.1491G>A	c.(1489-1491)ctG>ctA	p.L497L	CDC45_ENST00000404724.3_Silent_p.L451L|CDC45_ENST00000263201.1_Silent_p.L497L|CDC45_ENST00000437685.2_Silent_p.L529L			O75419	CDC45_HUMAN	cell division cycle 45	497					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						CTGCCCCCCTGAGCATGGAGC	0.632																																						uc002zpr.2		NaN																	0				lung(1)	1						c.(1489-1491)CTG>CTA		CDC45-like							63.0	67.0	65.0					22																	19504100		2203	4300	6503	SO:0001819	synonymous_variant	8318				DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding	g.chr22:19504100G>A	AF053074	CCDS13762.1, CCDS54499.1, CCDS54500.1	22q11.21	2013-01-17	2013-01-17	2010-03-24	ENSG00000093009	ENSG00000093009			1739	protein-coding gene	gene with protein product	"""human CDC45"""	603465	"""CDC45 (cell division cycle 45, S.cerevisiae, homolog)-like"", ""CDC45 cell division cycle 45-like (S. cerevisiae)"", ""cell division cycle 45 homolog (S. cerevisiae)"""	CDC45L2, CDC45L		9660782, 9724329, 17608804	Standard	NM_001178010		Approved		uc011aha.2	O75419	OTTHUMG00000150386	ENST00000407835.1:c.1491G>A	22.37:g.19504100G>A						CDC45_uc011aha.1_Silent_p.L529L|CDC45_uc002zps.2_Silent_p.L497L|CDC45_uc002zpt.2_Silent_p.L451L	p.L497L	NM_003504	NP_003495	O75419	CDC45_HUMAN			16	1567	+			497					B4DDB4|B4DDU3|E9PDH7|O60856|Q20WK8|Q6UW54|Q9UP68	Silent	SNP	ENST00000407835.1	37	c.1491G>A	CCDS13762.1																																																																																				0.632	CDC45-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317903.1		NM_003504		22	35	0	0	0	0.00333	0	22	35		
COMT	1312	broad.mit.edu	37	22	19951738	19951738	+	Silent	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr22:19951738G>A	ENST00000361682.6	+	5	913	c.531G>A	c.(529-531)aaG>aaA	p.K177K	COMT_ENST00000449653.1_Silent_p.K127K|COMT_ENST00000493893.1_3'UTR|COMT_ENST00000406520.3_Silent_p.K177K|COMT_ENST00000403184.1_Silent_p.K177K|COMT_ENST00000407537.1_Silent_p.K127K|MIR4761_ENST00000585066.1_RNA|COMT_ENST00000403710.1_Silent_p.K177K	NM_000754.3	NP_000745.1	P21964	COMT_HUMAN	catechol-O-methyltransferase	177					cellular response to phosphate starvation (GO:0016036)|dopamine catabolic process (GO:0042420)|estrogen metabolic process (GO:0008210)|female pregnancy (GO:0007565)|learning (GO:0007612)|methylation (GO:0032259)|multicellular organismal reproductive process (GO:0048609)|negative regulation of dopamine metabolic process (GO:0045963)|negative regulation of smooth muscle cell proliferation (GO:0048662)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter catabolic process (GO:0042135)|positive regulation of homocysteine metabolic process (GO:0050668)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	catechol O-methyltransferase activity (GO:0016206)|magnesium ion binding (GO:0000287)|O-methyltransferase activity (GO:0008171)			kidney(1)|lung(1)|ovary(1)|prostate(1)|stomach(1)	5	Colorectal(54;0.0993)				Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Methyldopa(DB00968)|Micafungin(DB01141)|S-Adenosylmethionine(DB00118)|Testosterone Propionate(DB01420)|Tolcapone(DB00323)	CCCAGCTGAAGAAGAAGTATG	0.592																																						uc002zqu.2		NaN																	0				ovary(1)	1						c.(529-531)AAG>AAA		catechol-O-methyltransferase isoform MB-COMT	Carbidopa(DB00190)|Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Folic Acid(DB00158)|L-Valine(DB00161)|Levodopa(DB01235)|Methyldopa(DB00968)|Modafinil(DB00745)|Morphine(DB00295)|S-Adenosylmethionine(DB00118)|Tolcapone(DB00323)						211.0	164.0	180.0					22																	19951738		2203	4300	6503	SO:0001819	synonymous_variant	1312				neurotransmitter biosynthetic process|neurotransmitter catabolic process|xenobiotic metabolic process	cytosol|integral to membrane|intracellular membrane-bounded organelle|microsome|plasma membrane|soluble fraction	catechol O-methyltransferase activity|magnesium ion binding|protein binding	g.chr22:19951738G>A		CCDS13770.1, CCDS46663.1	22q11.21	2012-10-02			ENSG00000093010	ENSG00000093010	2.1.1.6		2228	protein-coding gene	gene with protein product		116790				1572656	Standard	NM_000754		Approved		uc002zqu.3	P21964	OTTHUMG00000150529	ENST00000361682.6:c.531G>A	22.37:g.19951738G>A						COMT_uc002zqt.2_Silent_p.K177K|COMT_uc002zqv.2_Silent_p.K177K|COMT_uc002zqw.2_Silent_p.K177K|COMT_uc011ahd.1_Silent_p.K177K|COMT_uc002zqx.2_Silent_p.K177K	p.K177K	NM_000754	NP_000745	P21964	COMT_HUMAN			5	780	+	Colorectal(54;0.0993)		177					A8MPV9|Q6IB07|Q6ICE6|Q9BWC7	Silent	SNP	ENST00000361682.6	37	c.531G>A	CCDS13770.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.842364	0.32513	.	.	ENSG00000093010	ENST00000428707	.	.	.	5.38	2.09	0.27110	.	.	.	.	.	T	0.57577	0.2063	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49862	-0.8894	4	.	.	.	-17.4279	8.8761	0.35345	0.2662:0.0:0.7338:0.0	.	.	.	.	K	37	.	.	E	+	1	0	COMT	18331738	1.000000	0.71417	0.935000	0.37517	0.285000	0.27093	1.418000	0.34782	0.293000	0.22520	0.462000	0.41574	GAA		0.592	COMT-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318936.2		NM_000754		61	111	0	0	0	0.01441	0	61	111		
OSM	5008	broad.mit.edu	37	22	30659991	30659991	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr22:30659991C>T	ENST00000215781.2	-	3	680	c.640G>A	c.(640-642)Gag>Aag	p.E214K	OSM_ENST00000403389.1_Missense_Mutation_p.E193K	NM_020530.4	NP_065391.1	P13725	ONCM_HUMAN	oncostatin M	214					behavioral response to pain (GO:0048266)|cell proliferation (GO:0008283)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of hormone secretion (GO:0046888)|negative regulation of meiosis (GO:0045835)|peripheral nervous system development (GO:0007422)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of growth (GO:0040008)|response to heat (GO:0009408)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	extracellular space (GO:0005615)|oncostatin-M receptor complex (GO:0005900)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|oncostatin-M receptor binding (GO:0005147)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3)	11			Epithelial(10;0.206)			TTCGGGCTCTCCCCCCACTTG	0.637																																						uc003ahb.2		NaN																	0				skin(1)	1						c.(640-642)GAG>AAG		oncostatin M precursor							48.0	52.0	50.0					22																	30659991		2203	4300	6503	SO:0001583	missense	5008				cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding	g.chr22:30659991C>T	AF129855	CCDS13873.1	22q12.2	2011-07-21			ENSG00000099985	ENSG00000099985			8506	protein-coding gene	gene with protein product		165095				1717982	Standard	NM_020530		Approved	MGC20461	uc003ahb.3	P13725	OTTHUMG00000150913	ENST00000215781.2:c.640G>A	22.37:g.30659991C>T	ENSP00000215781:p.Glu214Lys						p.E214K	NM_020530	NP_065391	P13725	ONCM_HUMAN	Epithelial(10;0.206)		3	692	-			214					Q6FHP8|Q9UCP6	Missense_Mutation	SNP	ENST00000215781.2	37	c.640G>A	CCDS13873.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.585532	0.28268	.	.	ENSG00000099985	ENST00000215781;ENST00000403389	T	0.46819	0.86	4.27	-7.2	0.01495	.	1.724340	0.03474	N	0.214079	T	0.22475	0.0542	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.12268	-1.0554	10	0.29301	T	0.29	-5.2684	5.8557	0.18718	0.0:0.2524:0.417:0.3306	.	214	P13725	ONCM_HUMAN	K	214;193	ENSP00000215781:E214K	ENSP00000215781:E214K	E	-	1	0	OSM	28989991	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-2.351000	0.01092	-0.814000	0.04352	-1.069000	0.02264	GAG		0.637	OSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320512.1		NM_020530		39	59	0	0	0	0.004878	0	39	59		
WNT7B	7477	broad.mit.edu	37	22	46319096	46319096	+	Silent	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr22:46319096C>T	ENST00000339464.4	-	4	1064	c.690G>A	c.(688-690)gaG>gaA	p.E230E	WNT7B_ENST00000409496.3_Silent_p.E234E|WNT7B_ENST00000410089.1_Silent_p.E214E	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B	230					activation of JUN kinase activity (GO:0007257)|anatomical structure regression (GO:0060033)|apoptotic process involved in patterning of blood vessels (GO:1902262)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular metabolic process (GO:0044237)|cellular response to retinoic acid (GO:0071300)|central nervous system vasculogenesis (GO:0022009)|chorio-allantoic fusion (GO:0060710)|developmental growth involved in morphogenesis (GO:0060560)|embryonic organ development (GO:0048568)|embryonic placenta morphogenesis (GO:0060669)|establishment or maintenance of polarity of embryonic epithelium (GO:0016332)|fibroblast proliferation (GO:0048144)|forebrain regionalization (GO:0021871)|homeostatic process (GO:0042592)|in utero embryonic development (GO:0001701)|inner medullary collecting duct development (GO:0072061)|lens fiber cell development (GO:0070307)|lobar bronchus development (GO:0060482)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung morphogenesis (GO:0060425)|lung-associated mesenchyme development (GO:0060484)|mammary gland epithelium development (GO:0061180)|metanephric collecting duct development (GO:0072205)|metanephric epithelium development (GO:0072207)|metanephric loop of Henle development (GO:0072236)|metanephros morphogenesis (GO:0003338)|negative regulation of smoothened signaling pathway (GO:0045879)|neuron differentiation (GO:0030182)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|outer medullary collecting duct development (GO:0072060)|oxygen homeostasis (GO:0032364)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of cell projection size (GO:0032536)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|response to glucocorticoid (GO:0051384)|smooth muscle cell differentiation (GO:0051145)|stem cell proliferation (GO:0072089)|synapse organization (GO:0050808)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		CGTTGTACTTCTCCTTCAGCA	0.642																																						uc003bgo.2		NaN																	0				lung(1)	1						c.(688-690)GAG>GAA		wingless-type MMTV integration site family,							41.0	42.0	42.0					22																	46319096		2202	4300	6502	SO:0001819	synonymous_variant	7477				activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity	g.chr22:46319096C>T	AF416743	CCDS33667.1	22q13	2013-02-28			ENSG00000188064	ENSG00000188064		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12787	protein-coding gene	gene with protein product		601967				8168088, 9284940, 11562755	Standard	NM_058238		Approved		uc003bgo.2	P56706	OTTHUMG00000154636	ENST00000339464.4:c.690G>A	22.37:g.46319096C>T						WNT7B_uc010haa.2_Silent_p.E234E	p.E230E	NM_058238	NP_478679	P56706	WNT7B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)	4	1064	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	230					B8A596|Q96Q12	Silent	SNP	ENST00000339464.4	37	c.690G>A	CCDS33667.1																																																																																				0.642	WNT7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336418.1		NM_058238		31	43	0	0	0	0.003271	0	31	43		
TGM4	7047	broad.mit.edu	37	3	44943289	44943289	+	Silent	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr3:44943289G>C	ENST00000296125.4	+	8	905	c.837G>C	c.(835-837)ctG>ctC	p.L279L	RP11-272D20.2_ENST00000427258.1_RNA	NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	279					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	TTTCAGTGCTGAGAGCGTTGG	0.587																																						uc003coc.3		NaN																	0				ovary(1)	1						c.(835-837)CTG>CTC		transglutaminase 4 (prostate)	L-Glutamine(DB00130)						90.0	79.0	83.0					3																	44943289		2203	4300	6503	SO:0001819	synonymous_variant	7047				peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr3:44943289G>C	BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"""Transglutaminases"""	11780	protein-coding gene	gene with protein product		600585	"""transglutaminase 4 (prostate)"""			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.837G>C	3.37:g.44943289G>C							p.L279L	NM_003241	NP_003232	P49221	TGM4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	8	910	+			279					Q16707|Q96QN4	Silent	SNP	ENST00000296125.4	37	c.837G>C	CCDS2723.1																																																																																				0.587	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2		NM_003241		15	33	0	0	0	0.003163	0	15	33		
SETD2	29072	broad.mit.edu	37	3	47147508	47147508	+	Silent	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr3:47147508G>A	ENST00000409792.3	-	6	4860	c.4818C>T	c.(4816-4818)ttC>ttT	p.F1606F		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1606	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCAGGGCCATGAAATAGTAAT	0.378			"""N, F, S, Mis"""		clear cell renal carcinoma																																	uc003cqs.2		NaN		Rec	yes		3	3p21.31	29072	N|F|S|Mis	SET domain containing 2			E			clear cell renal carcinoma		0				kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32						c.(4816-4818)TTC>TTT		SET domain containing 2							167.0	159.0	162.0					3																	47147508		2203	4300	6503	SO:0001819	synonymous_variant	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47147508G>A	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4818C>T	3.37:g.47147508G>A						SETD2_uc003cqv.2_Silent_p.F1595F	p.F1606F	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	6	4871	-		Acute lymphoblastic leukemia(5;0.0169)	1606			SET.		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Silent	SNP	ENST00000409792.3	37	c.4818C>T	CCDS2749.2																																																																																				0.378	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2		NM_014159		55	130	0	0	0	0.01441	0	55	130		
ROBO1	6091	broad.mit.edu	37	3	78676636	78676636	+	Missense_Mutation	SNP	C	C	T	rs375929382		TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr3:78676636C>T	ENST00000464233.1	-	26	3823	c.3710G>A	c.(3709-3711)cGa>cAa	p.R1237Q	ROBO1_ENST00000495273.1_Missense_Mutation_p.R1192Q|ROBO1_ENST00000436010.2_Missense_Mutation_p.R1198Q|ROBO1_ENST00000467549.1_Missense_Mutation_p.R1137Q	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1237					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		AGTGGGGCCTCGTTCATCTTC	0.507																																						uc003dqe.2		NaN																	0				large_intestine(2)	2						c.(3709-3711)CGA>CAA		roundabout 1 isoform a		C	GLN/ARG,GLN/ARG,GLN/ARG	2,4154		0,2,2076	74.0	90.0	85.0		3410,3710,3575	5.3	1.0	3		85	0,8422		0,0,4211	no	missense,missense,missense	ROBO1	NM_001145845.1,NM_002941.3,NM_133631.3	43,43,43	0,2,6287	TT,TC,CC		0.0,0.0481,0.0159	benign,benign,benign	1137/1552,1237/1652,1192/1607	78676636	2,12576	2078	4211	6289	SO:0001583	missense	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78676636C>T	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.3710G>A	3.37:g.78676636C>T	ENSP00000420321:p.Arg1237Gln					ROBO1_uc003dqb.2_Missense_Mutation_p.R1198Q|ROBO1_uc003dqc.2_Missense_Mutation_p.R1137Q|ROBO1_uc003dqd.2_Missense_Mutation_p.R1192Q|ROBO1_uc010hoh.2_Missense_Mutation_p.R429Q|ROBO1_uc011bgl.1_Missense_Mutation_p.R809Q	p.R1237Q	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	26	3918	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	1237			Cytoplasmic (Potential).		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.3710G>A	CCDS54611.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.519470|5.519470	0.96416|0.96416	4.81E-4|4.81E-4	0.0|0.0	ENSG00000169855|ENSG00000169855	ENST00000472273|ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	.|T;T;T;T	.|0.63096	.|0.1;0.07;0.08;-0.02	5.29|5.29	5.29|5.29	0.74685|0.74685	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.78278|0.78278	0.4258|0.4258	M|M	0.65498|0.65498	2.005|2.005	0.53688|0.53688	D|D	0.999977|0.999977	.|D;D;D;D;D	.|0.71674	.|0.998;0.979;0.994;0.995;0.993	.|D;P;P;P;P	.|0.75484	.|0.986;0.709;0.623;0.618;0.77	T|T	0.76961|0.76961	-0.2765|-0.2765	5|9	.|.	.|.	.|.	.|.	19.2858|19.2858	0.94069|0.94069	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1201;1237;1192;1137;1198	.|Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.|.;ROBO1_HUMAN;.;.;.	K|Q	164|1198;1192;1237;1192;1137;1241	.|ENSP00000406043:R1198Q;ENSP00000420321:R1237Q;ENSP00000420637:R1192Q;ENSP00000417992:R1137Q	.|.	E|R	-|-	1|2	0|0	ROBO1|ROBO1	78759326|78759326	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.901000|0.901000	0.52897|0.52897	7.741000|7.741000	0.84997|0.84997	2.630000|2.630000	0.89119|0.89119	0.561000|0.561000	0.74099|0.74099	GAG|CGA		0.507	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1		NM_002941		18	28	0	0	0	0.00499	0	18	28		
TFG	10342	broad.mit.edu	37	3	100463742	100463742	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr3:100463742C>T	ENST00000240851.4	+	7	1127	c.787C>T	c.(787-789)Cag>Tag	p.Q263*	TFG_ENST00000481203.1_3'UTR|TFG_ENST00000490574.1_Nonsense_Mutation_p.Q263*|TFG_ENST00000418917.2_Nonsense_Mutation_p.Q259*|TFG_ENST00000476228.1_Nonsense_Mutation_p.Q259*	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	263					cell death (GO:0008219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	signal transducer activity (GO:0004871)		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						GGCTCCACCTCAGCAGCCTCA	0.463			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""																																	uc003due.2		NaN		Dom	yes		3	3q11-q12	10342	T	TRK-fused gene			"""E, L"""	NTRK1|ALK		papillary thyroid|ALCL|NSCLC	TFG/ALK(7)	0				haematopoietic_and_lymphoid_tissue(7)|lung(2)|large_intestine(1)|prostate(1)	11						c.(787-789)CAG>TAG		TRK-fused							116.0	113.0	114.0					3																	100463742		2203	4300	6503	SO:0001587	stop_gained	10342				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity	g.chr3:100463742C>T	BC009241	CCDS2939.1, CCDS56266.1	3q12.2	2013-03-13	2001-12-04		ENSG00000114354	ENSG00000114354			11758	protein-coding gene	gene with protein product		602498				9169129, 23479643	Standard	NM_001007565		Approved	TF6, FLJ36137, SPG57	uc003dui.3	Q92734	OTTHUMG00000159085	ENST00000240851.4:c.787C>T	3.37:g.100463742C>T	ENSP00000240851:p.Gln263*					TFG_uc003duf.2_Nonsense_Mutation_p.Q263*|TFG_uc003dug.2_Nonsense_Mutation_p.Q259*|TFG_uc003duh.2_Nonsense_Mutation_p.Q259*|TFG_uc003dui.2_Nonsense_Mutation_p.Q263*	p.Q263*	NM_006070	NP_006061	Q92734	TFG_HUMAN			7	1236	+			263					D3DN49|G5E9V1|Q15656|Q969I2	Nonsense_Mutation	SNP	ENST00000240851.4	37	c.787C>T	CCDS2939.1	.	.	.	.	.	.	.	.	.	.	C	40	8.024300	0.98616	.	.	ENSG00000114354	ENST00000418917;ENST00000490574;ENST00000240851;ENST00000476228	.	.	.	5.54	5.54	0.83059	.	0.338504	0.31177	N	0.008102	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	0.0018	19.4833	0.95018	0.0:1.0:0.0:0.0	.	.	.	.	X	259;263;263;259	.	ENSP00000240851:Q263X	Q	+	1	0	TFG	101946432	1.000000	0.71417	0.978000	0.43139	0.917000	0.54804	6.455000	0.73497	2.596000	0.87737	0.655000	0.94253	CAG		0.463	TFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353242.1		NM_006070		49	112	0	0	0	0.01441	0	49	112		
EEFSEC	60678	broad.mit.edu	37	3	128060617	128060617	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr3:128060617G>T	ENST00000254730.6	+	5	1382	c.1328G>T	c.(1327-1329)cGg>cTg	p.R443L	EEFSEC_ENST00000483457.1_Missense_Mutation_p.R388L|EEFSEC_ENST00000483569.1_3'UTR	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	443					selenocysteine incorporation (GO:0001514)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)|translation elongation factor activity (GO:0003746)|tRNA binding (GO:0000049)	p.R443>?(1)|p.R443P(1)		NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						AACACGTGCCGGCTAGCCTTC	0.602																																						uc003eki.2		NaN																	2	Substitution - Missense(1)|Complex(1)		kidney(2)	ovary(1)	1						c.(1327-1329)CGG>CTG		eukaryotic elongation factor,							78.0	72.0	74.0					3																	128060617		2203	4300	6503	SO:0001583	missense	60678					cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity	g.chr3:128060617G>T		CCDS33849.1	3q21.3	2007-05-25			ENSG00000132394	ENSG00000132394			24614	protein-coding gene	gene with protein product	"""elongation factor for selenoprotein translation"""	607695				10970870, 15229221	Standard	XM_005247696		Approved	SELB, EFSEC	uc003eki.3	P57772	OTTHUMG00000159659	ENST00000254730.6:c.1328G>T	3.37:g.128060617G>T	ENSP00000254730:p.Arg443Leu					EEFSEC_uc003ekj.2_Missense_Mutation_p.R388L	p.R443L	NM_021937	NP_068756	P57772	SELB_HUMAN			5	1366	+			443					Q96HZ6	Missense_Mutation	SNP	ENST00000254730.6	37	c.1328G>T	CCDS33849.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.996004	0.93167	.	.	ENSG00000132394	ENST00000254730;ENST00000483457	T;T	0.78003	-0.77;-1.14	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.90349	0.6980	M	0.89478	3.035	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.91972	0.5587	10	0.87932	D	0	-17.9437	19.0661	0.93110	0.0:0.0:1.0:0.0	.	388;443	C9J8T0;P57772	.;SELB_HUMAN	L	443;388	ENSP00000254730:R443L;ENSP00000417660:R388L	ENSP00000254730:R443L	R	+	2	0	EEFSEC	129543307	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	9.849000	0.99510	2.489000	0.83994	0.591000	0.81541	CGG		0.602	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356738.2		NM_021937		47	73	1	0	2.74695e-27	0.01441	3.04454e-27	47	73		
FGFR3	2261	broad.mit.edu	37	4	1803568	1803568	+	Missense_Mutation	SNP	C	C	G	rs121913483		TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr4:1803568C>G	ENST00000260795.2	+	6	848	c.746C>G	c.(745-747)tCc>tGc	p.S249C	FGFR3_ENST00000412135.2_Missense_Mutation_p.S249C|FGFR3_ENST00000352904.1_Missense_Mutation_p.S249C|FGFR3_ENST00000340107.4_Missense_Mutation_p.S249C|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000440486.2_Missense_Mutation_p.S249C|FGFR3_ENST00000481110.2_Missense_Mutation_p.S249C			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	249			S -> C (in KERSEB, bladder cancer, cervical cancer and TD1). {ECO:0000269|PubMed:10360402, ECO:0000269|PubMed:10471491, ECO:0000269|PubMed:15772091, ECO:0000269|PubMed:8589699, ECO:0000269|PubMed:8845844}.		alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)	p.S249C(1204)|p.R248_S249del(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	ACAGAGCGCTCCCCGCACCGG	0.736		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome																													uc003gdr.3		1		Dom	yes		4	4p16.3	2261	Mis|T	fibroblast growth factor receptor 3	yes	Hypochondroplasia|Thanatophoric dysplasia	"""L, E"""	IGH@|ETV6		bladder|MM|T-cell lymphoma		1205	Substitution - Missense(1204)|Deletion - In frame(1)	p.S249C(1368)|p.R248_S249insC(2)|p.S249T(1)|p.R248_S249del(1)	urinary_tract(1168)|skin(27)|cervix(5)|lung(4)|upper_aerodigestive_tract(1)	urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600	GRCh37	CM950470	FGFR3	M	rs121913483	c.(745-747)TCC>TGC		fibroblast growth factor receptor 3 isoform 1	Palifermin(DB00039)						13.0	16.0	15.0					4																	1803568		2180	4267	6447	SO:0001583	missense	2261	Muenke_syndrome|Saethre-Chotzen_syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	g.chr4:1803568C>G	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3690	protein-coding gene	gene with protein product		134934	"""achondroplasia, thanatophoric dwarfism"""	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.746C>G	4.37:g.1803568C>G	ENSP00000260795:p.Ser249Cys					FGFR3_uc003gdu.2_Missense_Mutation_p.S249C|FGFR3_uc003gds.3_Missense_Mutation_p.S249C|FGFR3_uc003gdq.3_Missense_Mutation_p.S249C|FGFR3_uc010icb.1_Missense_Mutation_p.S91C|FGFR3_uc003gdt.1_Missense_Mutation_p.S91C	p.S249C	NM_000142	NP_000133	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		7	1002	+		Breast(71;0.212)|all_epithelial(65;0.241)	249		S -> C (in KERSEB, bladder cancer, cervical cancer and TD1).	Extracellular (Potential).		D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	ENST00000260795.2	37	c.746C>G	CCDS3353.1	.	.	.	.	.	.	.	.	.	.	c	18.75	3.690127	0.68271	.	.	ENSG00000068078	ENST00000481110;ENST00000340107;ENST00000440486;ENST00000412135;ENST00000260795;ENST00000352904;ENST00000507588	D;T;T;T;T;T;T	0.82081	-1.57;-1.35;-1.33;-1.33;-1.33;-1.33;-1.32	3.94	3.94	0.45596	.	0.000000	0.85682	D	0.000000	D	0.92808	0.7713	M	0.92412	3.305	0.30597	A	0.239052	D;D;D;D;D;D	0.89917	0.998;0.997;1.0;1.0;1.0;1.0	P;D;D;D;D;D	0.80764	0.906;0.978;0.983;0.994;0.968;0.993	D	0.94822	0.7988	9	0.72032	D	0.01	.	16.2883	0.82736	0.0:1.0:0.0:0.0	.	212;249;249;249;249;249	Q8NI15;P22607-2;P22607-4;P22607-3;P22607;F8W9L4	.;.;.;.;FGFR3_HUMAN;.	C	249;249;249;249;249;249;69	ENSP00000420533:S249C;ENSP00000339824:S249C;ENSP00000414914:S249C;ENSP00000412903:S249C;ENSP00000260795:S249C;ENSP00000231803:S249C;ENSP00000427289:S69C	ENSP00000260795:S249C	S	+	2	0	FGFR3	1773366	1.000000	0.71417	1.000000	0.80357	0.445000	0.32107	7.424000	0.80242	1.903000	0.55091	0.436000	0.28706	TCC		0.736	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2		NM_000142		38	10	0	0	0	0.01441	0	38	10		
FGFR3	2261	broad.mit.edu	37	4	1805533	1805533	+	Missense_Mutation	SNP	C	C	T	rs532318669		TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr4:1805533C>T	ENST00000260795.2	+	7	1147	c.1045C>T	c.(1045-1047)Cat>Tat	p.H349Y	FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000340107.4_Intron|FGFR3_ENST00000440486.2_Missense_Mutation_p.H349Y|FGFR3_ENST00000481110.2_Missense_Mutation_p.H349Y			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	349	Ig-like C2-type 3.				alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	TGGGTTTTCTCATCACTCTGC	0.612		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				c|||	1	0.000199681	0.0	0.0	5008	,	,		16642	0.0		0.0	False		,,,				2504	0.001					uc003gdr.3		1		Dom	yes		4	4p16.3	2261	Mis|T	fibroblast growth factor receptor 3	yes	Hypochondroplasia|Thanatophoric dysplasia	"""L, E"""	IGH@|ETV6		bladder|MM|T-cell lymphoma		0				urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600						c.(1045-1047)CAT>TAT		fibroblast growth factor receptor 3 isoform 1	Palifermin(DB00039)						123.0	121.0	121.0					4																	1805533		2203	4300	6503	SO:0001583	missense	2261	Muenke_syndrome|Saethre-Chotzen_syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	g.chr4:1805533C>T	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3690	protein-coding gene	gene with protein product		134934	"""achondroplasia, thanatophoric dwarfism"""	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.1045C>T	4.37:g.1805533C>T	ENSP00000260795:p.His349Tyr					FGFR3_uc003gdu.2_Intron|FGFR3_uc003gds.3_Intron|FGFR3_uc003gdq.3_Missense_Mutation_p.H349Y|FGFR3_uc010icb.1_Missense_Mutation_p.H157Y|FGFR3_uc003gdt.1_Missense_Mutation_p.H178Y	p.H349Y	NM_000142	NP_000133	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		8	1301	+		Breast(71;0.212)|all_epithelial(65;0.241)	349			Ig-like C2-type 3.|Extracellular (Potential).		D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	ENST00000260795.2	37	c.1045C>T	CCDS3353.1	.	.	.	.	.	.	.	.	.	.	c	10.68	1.417695	0.25552	.	.	ENSG00000068078	ENST00000481110;ENST00000440486;ENST00000260795	T;T;T	0.66995	-0.24;-0.24;-0.24	4.46	4.46	0.54185	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.639479	0.16596	N	0.207549	T	0.47673	0.1458	N	0.12182	0.205	0.80722	D	1	B;B;B;B	0.23442	0.001;0.085;0.003;0.04	B;B;B;B	0.17433	0.009;0.018;0.008;0.016	T	0.42632	-0.9440	10	0.09338	T	0.73	.	17.4773	0.87662	0.0:1.0:0.0:0.0	.	312;349;349;349	Q8NI15;P22607-4;P22607;F8W9L4	.;.;FGFR3_HUMAN;.	Y	349	ENSP00000420533:H349Y;ENSP00000414914:H349Y;ENSP00000260795:H349Y	ENSP00000260795:H349Y	H	+	1	0	FGFR3	1775331	0.902000	0.30710	1.000000	0.80357	0.992000	0.81027	1.511000	0.35801	2.191000	0.70037	0.511000	0.50034	CAT		0.612	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2		NM_000142		96	30	0	0	0	0.01441	0	96	30		
FGFR3	2261	broad.mit.edu	37	4	1806112	1806112	+	Silent	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr4:1806112C>T	ENST00000260795.2	+	8	1233	c.1131C>T	c.(1129-1131)ctC>ctT	p.L377L	FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000340107.4_Silent_p.L379L|FGFR3_ENST00000440486.2_Silent_p.L377L|FGFR3_ENST00000481110.2_Silent_p.L377L			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	377					alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)	p.L377L(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	CAGGCATCCTCAGCTACGGGG	0.687		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome																													uc003gdr.3		1		Dom	yes		4	4p16.3	2261	Mis|T	fibroblast growth factor receptor 3	yes	Hypochondroplasia|Thanatophoric dysplasia	"""L, E"""	IGH@|ETV6		bladder|MM|T-cell lymphoma		1	Substitution - coding silent(1)	p.L377L(1)	urinary_tract(1)	urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600						c.(1129-1131)CTC>CTT		fibroblast growth factor receptor 3 isoform 1	Palifermin(DB00039)						153.0	146.0	149.0					4																	1806112		2203	4300	6503	SO:0001819	synonymous_variant	2261	Muenke_syndrome|Saethre-Chotzen_syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	g.chr4:1806112C>T	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3690	protein-coding gene	gene with protein product		134934	"""achondroplasia, thanatophoric dwarfism"""	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.1131C>T	4.37:g.1806112C>T						FGFR3_uc003gdu.2_Silent_p.L379L|FGFR3_uc003gds.3_Intron|FGFR3_uc003gdq.3_Silent_p.L377L	p.L377L	NM_000142	NP_000133	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		9	1387	+		Breast(71;0.212)|all_epithelial(65;0.241)	377			Helical; (Potential).		D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Silent	SNP	ENST00000260795.2	37	c.1131C>T	CCDS3353.1																																																																																				0.687	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2		NM_000142		334	70	0	0	0	0.01441	0	334	70		
ZGRF1	55345	broad.mit.edu	37	4	113545020	113545020	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr4:113545020C>G	ENST00000505019.1	-	4	240	c.115G>C	c.(115-117)Gat>Cat	p.D39H	C4orf21_ENST00000445203.2_Missense_Mutation_p.D8H|C4orf21_ENST00000309071.5_Missense_Mutation_p.D39H	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		39						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		CCTTTGTCATCATATAAAATT	0.254																																						uc003iau.2		NaN																	0					0						c.(115-117)GAT>CAT		prematurely terminated mRNA decay factor-like							37.0	37.0	37.0					4																	113545020		2197	4271	6468	SO:0001583	missense	55345					integral to membrane	zinc ion binding	g.chr4:113545020C>G																												ENST00000505019.1:c.115G>C	4.37:g.113545020C>G	ENSP00000424737:p.Asp39His					C4orf21_uc003iaw.2_Missense_Mutation_p.D39H	p.D39H	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	4	326	-		Ovarian(17;0.156)	Error:Variant_position_missing_in_Q6ZU11_after_alignment					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37	c.115G>C		.	.	.	.	.	.	.	.	.	.	C	16.83	3.231481	0.58777	.	.	ENSG00000138658	ENST00000505019;ENST00000309071;ENST00000445203;ENST00000503172	D;T;T	0.91740	-2.9;0.45;0.47	5.1	4.25	0.50352	Domain of unknown function DUF2439 (1);	0.103605	0.42294	D	0.000730	D	0.95255	0.8461	M	0.80508	2.5	0.31283	N	0.690356	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.966	D	0.93901	0.7188	10	0.87932	D	0	-19.6073	9.91	0.41399	0.0:0.8404:0.0:0.1596	.	39;39	Q86YA3;G5EA02	CD021_HUMAN;.	H	39;39;8;39	ENSP00000424737:D39H;ENSP00000309095:D39H;ENSP00000390505:D8H	ENSP00000309095:D39H	D	-	1	0	C4orf21	113764469	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.299000	0.43611	1.136000	0.42199	0.591000	0.81541	GAT		0.254	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1				39	9	0	0	0	0.009718	0	39	9		
SH3RF1	57630	broad.mit.edu	37	4	170038745	170038745	+	Missense_Mutation	SNP	G	G	C	rs377058890		TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr4:170038745G>C	ENST00000284637.9	-	9	2047	c.1706C>G	c.(1705-1707)cCt>cGt	p.P569R	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	569					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|protein ubiquitination (GO:0016567)|regulation of JNK cascade (GO:0046328)	cell projection (GO:0042995)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		CTTAGCCTGAGGACTTGTCTG	0.582																																						uc003isa.1		NaN																	0				breast(2)|lung(1)	3						c.(1705-1707)CCT>CGT		SH3 domain containing ring finger 1							95.0	84.0	88.0					4																	170038745		2203	4300	6503	SO:0001583	missense	57630					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding	g.chr4:170038745G>C	BC033203	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447		"""RING-type (C3HC4) zinc fingers"""	17650	protein-coding gene	gene with protein product	"""plenty of SH3 domains"""		"""SH3 multiple domains 2"""	SH3MD2		9482736	Standard	NM_020870		Approved	POSH, RNF142, KIAA1494	uc003isa.1	Q7Z6J0	OTTHUMG00000161010	ENST00000284637.9:c.1706C>G	4.37:g.170038745G>C	ENSP00000284637:p.Pro569Arg					SH3RF1_uc010irc.1_Missense_Mutation_p.P269R	p.P569R	NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)	9	2041	-		Prostate(90;0.00267)|Renal(120;0.0183)	569					Q05BT2|Q8IW46|Q9HAM2|Q9P234	Missense_Mutation	SNP	ENST00000284637.9	37	c.1706C>G	CCDS34099.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.022011	0.35701	.	.	ENSG00000154447	ENST00000284637	T	0.15017	2.46	5.54	4.69	0.59074	.	0.048356	0.85682	D	0.000000	T	0.35770	0.0943	M	0.71036	2.16	0.58432	D	0.999992	D	0.63880	0.993	P	0.56216	0.794	T	0.18967	-1.0320	10	0.51188	T	0.08	-18.7699	16.3511	0.83208	0.0:0.1322:0.8678:0.0	.	569	Q7Z6J0	SH3R1_HUMAN	R	569	ENSP00000284637:P569R	ENSP00000284637:P569R	P	-	2	0	SH3RF1	170275320	1.000000	0.71417	0.963000	0.40424	0.041000	0.13682	6.853000	0.75435	1.316000	0.45131	0.561000	0.74099	CCT		0.582	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363382.3		NM_020870		79	89	0	0	0	0.01441	0	79	89		
SH3RF1	57630	broad.mit.edu	37	4	170038769	170038769	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr4:170038769G>A	ENST00000284637.9	-	9	2023	c.1682C>T	c.(1681-1683)tCa>tTa	p.S561L	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	561					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|protein ubiquitination (GO:0016567)|regulation of JNK cascade (GO:0046328)	cell projection (GO:0042995)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		GTGAGCTGCTGATACCACAGC	0.587																																						uc003isa.1		NaN																	0				breast(2)|lung(1)	3						c.(1681-1683)TCA>TTA		SH3 domain containing ring finger 1							86.0	78.0	81.0					4																	170038769		2203	4300	6503	SO:0001583	missense	57630					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding	g.chr4:170038769G>A	BC033203	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447		"""RING-type (C3HC4) zinc fingers"""	17650	protein-coding gene	gene with protein product	"""plenty of SH3 domains"""		"""SH3 multiple domains 2"""	SH3MD2		9482736	Standard	NM_020870		Approved	POSH, RNF142, KIAA1494	uc003isa.1	Q7Z6J0	OTTHUMG00000161010	ENST00000284637.9:c.1682C>T	4.37:g.170038769G>A	ENSP00000284637:p.Ser561Leu					SH3RF1_uc010irc.1_Missense_Mutation_p.S261L	p.S561L	NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)	9	2017	-		Prostate(90;0.00267)|Renal(120;0.0183)	561					Q05BT2|Q8IW46|Q9HAM2|Q9P234	Missense_Mutation	SNP	ENST00000284637.9	37	c.1682C>T	CCDS34099.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.781186	0.49891	.	.	ENSG00000154447	ENST00000284637	T	0.13307	2.6	5.54	5.54	0.83059	.	0.278006	0.40818	N	0.001011	T	0.17195	0.0413	L	0.44542	1.39	0.54753	D	0.999988	P	0.38922	0.651	B	0.38378	0.272	T	0.01036	-1.1473	10	0.59425	D	0.04	-9.6909	19.4846	0.95024	0.0:0.0:1.0:0.0	.	561	Q7Z6J0	SH3R1_HUMAN	L	561	ENSP00000284637:S561L	ENSP00000284637:S561L	S	-	2	0	SH3RF1	170275344	1.000000	0.71417	0.983000	0.44433	0.046000	0.14306	9.051000	0.93849	2.604000	0.88044	0.561000	0.74099	TCA		0.587	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363382.3		NM_020870		74	90	0	0	0	0.01441	0	74	90		
SH3RF1	57630	broad.mit.edu	37	4	170038903	170038903	+	Silent	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr4:170038903G>A	ENST00000284637.9	-	9	1889	c.1548C>T	c.(1546-1548)gtC>gtT	p.V516V	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	516	Interaction with AKT2. {ECO:0000250}.				negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|protein ubiquitination (GO:0016567)|regulation of JNK cascade (GO:0046328)	cell projection (GO:0042995)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TAGACATAGGGACTTTAGCTT	0.527																																						uc003isa.1		NaN																	0				breast(2)|lung(1)	3						c.(1546-1548)GTC>GTT		SH3 domain containing ring finger 1							42.0	40.0	41.0					4																	170038903		2203	4300	6503	SO:0001819	synonymous_variant	57630					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding	g.chr4:170038903G>A	BC033203	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447		"""RING-type (C3HC4) zinc fingers"""	17650	protein-coding gene	gene with protein product	"""plenty of SH3 domains"""		"""SH3 multiple domains 2"""	SH3MD2		9482736	Standard	NM_020870		Approved	POSH, RNF142, KIAA1494	uc003isa.1	Q7Z6J0	OTTHUMG00000161010	ENST00000284637.9:c.1548C>T	4.37:g.170038903G>A						SH3RF1_uc010irc.1_Silent_p.V216V	p.V516V	NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)	9	1883	-		Prostate(90;0.00267)|Renal(120;0.0183)	516			Interaction with AKT2 (By similarity).		Q05BT2|Q8IW46|Q9HAM2|Q9P234	Silent	SNP	ENST00000284637.9	37	c.1548C>T	CCDS34099.1																																																																																				0.527	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363382.3		NM_020870		26	38	0	0	0	0.005443	0	26	38		
CFAP97	57587	broad.mit.edu	37	4	186111756	186111756	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr4:186111756C>T	ENST00000458385.2	-	2	714	c.595G>A	c.(595-597)Gat>Aat	p.D199N	KIAA1430_ENST00000296775.6_Missense_Mutation_p.D199N|KIAA1430_ENST00000514798.1_Missense_Mutation_p.D199N	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		199	Ser-rich.									endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		GGAGACGAATCAGATAGATGG	0.403																																						uc003ixf.3		NaN																	0					0						c.(595-597)GAT>AAT		hypothetical protein LOC57587							112.0	100.0	104.0					4																	186111756		1915	4138	6053	SO:0001583	missense	57587							g.chr4:186111756C>T																												ENST00000458385.2:c.595G>A	4.37:g.186111756C>T	ENSP00000409964:p.Asp199Asn					KIAA1430_uc003ixg.2_Missense_Mutation_p.D199N	p.D199N	NM_020827	NP_065878	Q9P2B7	K1430_HUMAN		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)	2	742	-		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	199			Ser-rich.		B3KRP7|D3DP60|Q05CU1|Q4W5M4|Q8N6E7|Q9UF45	Missense_Mutation	SNP	ENST00000458385.2	37	c.595G>A	CCDS47168.1	.	.	.	.	.	.	.	.	.	.	C	2.937	-0.219656	0.06061	.	.	ENSG00000164323	ENST00000458385;ENST00000514798;ENST00000296775	T;T;T	0.44881	0.91;0.91;0.91	5.45	1.71	0.24356	.	0.630209	0.15827	N	0.242708	T	0.33323	0.0859	M	0.65975	2.015	0.20403	N	0.999907	B;B	0.31548	0.328;0.013	B;B	0.28011	0.085;0.018	T	0.23332	-1.0191	10	0.13853	T	0.58	-3.2805	6.4804	0.22060	0.0:0.5882:0.2084:0.2034	.	199;199	Q9P2B7-2;Q9P2B7	.;K1430_HUMAN	N	199	ENSP00000409964:D199N;ENSP00000423312:D199N;ENSP00000296775:D199N	ENSP00000296775:D199N	D	-	1	0	KIAA1430	186348750	1.000000	0.71417	0.269000	0.24586	0.012000	0.07955	2.433000	0.44793	0.067000	0.16545	-0.140000	0.14226	GAT		0.403	KIAA1430-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360717.2				18	4	0	0	0	0.00499	0	18	4		
TRIML1	339976	broad.mit.edu	37	4	189061706	189061706	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr4:189061706C>G	ENST00000332517.3	+	2	573	c.433C>G	c.(433-435)Ctt>Gtt	p.L145V	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	145					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		AATCCTGAATCTTTTGCGTGT	0.478																																					Melanoma(31;213 1036 16579 23968 32372)	uc003izm.1		NaN																	0				ovary(1)|pancreas(1)|breast(1)|skin(1)	4						c.(433-435)CTT>GTT		tripartite motif family-like 1							151.0	143.0	146.0					4																	189061706		2203	4300	6503	SO:0001583	missense	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189061706C>G	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.433C>G	4.37:g.189061706C>G	ENSP00000327738:p.Leu145Val						p.L145V	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	2	548	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	145			Potential.		Q96BE5	Missense_Mutation	SNP	ENST00000332517.3	37	c.433C>G	CCDS3851.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.847323	0.00067	.	.	ENSG00000184108	ENST00000332517	T	0.61980	0.06	4.74	-1.41	0.08941	.	1.522490	0.03999	N	0.296240	T	0.49779	0.1577	L	0.37561	1.115	0.09310	N	1	B	0.15930	0.015	B	0.16722	0.016	T	0.22417	-1.0217	10	0.17369	T	0.5	-1.3635	8.2063	0.31456	0.6079:0.3061:0.0:0.086	.	145	Q8N9V2	TRIML_HUMAN	V	145	ENSP00000327738:L145V	ENSP00000327738:L145V	L	+	1	0	TRIML1	189298700	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.117000	0.10708	-0.279000	0.09167	-0.745000	0.03516	CTT		0.478	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1		NM_178556		100	34	0	0	0	0.01441	0	100	34		
ADAMTS16	170690	broad.mit.edu	37	5	5237159	5237159	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr5:5237159G>A	ENST00000274181.7	+	14	2239	c.2101G>A	c.(2101-2103)Ggg>Agg	p.G701R	ADAMTS16_ENST00000513709.1_Intron	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	701	Cys-rich.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G701W(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						AGTCAAAGATGGGACTCCATG	0.373																																						uc003jdl.2		NaN																	2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(2101-2103)GGG>AGG		ADAM metallopeptidase with thrombospondin type 1							160.0	149.0	152.0					5																	5237159		1891	4107	5998	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5237159G>A	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2101G>A	5.37:g.5237159G>A	ENSP00000274181:p.Gly701Arg					ADAMTS16_uc003jdk.1_Missense_Mutation_p.G701R|ADAMTS16_uc010itk.1_Intron	p.G701R	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			14	2239	+			701			Cys-rich.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.2101G>A	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	G	32	5.121531	0.94385	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	D	0.90324	-2.65	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.97318	0.9123	H	0.97540	4.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.988;0.999	D	0.98272	1.0504	10	0.72032	D	0.01	.	18.6706	0.91510	0.0:0.0:1.0:0.0	.	701;701	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	R	701	ENSP00000274181:G701R	ENSP00000274181:G701R	G	+	1	0	ADAMTS16	5290159	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.985000	0.93487	2.708000	0.92522	0.655000	0.94253	GGG		0.373	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1		NM_139056		42	96	0	0	0	0.007835	0	42	96		
RAI14	26064	broad.mit.edu	37	5	34823332	34823332	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr5:34823332G>C	ENST00000265109.3	+	15	1672	c.1385G>C	c.(1384-1386)cGa>cCa	p.R462P	RAI14_ENST00000512629.1_Missense_Mutation_p.R433P|RAI14_ENST00000506376.1_Missense_Mutation_p.R454P|RAI14_ENST00000503673.1_Missense_Mutation_p.R462P|RAI14_ENST00000397449.1_Missense_Mutation_p.R455P|RAI14_ENST00000428746.2_Missense_Mutation_p.R462P|RAI14_ENST00000515799.1_Missense_Mutation_p.R465P	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	462						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					CTCCAATCCCGAAGGGCAGAA	0.443																																						uc003jir.2		NaN																	0				ovary(1)	1						c.(1384-1386)CGA>CCA		retinoic acid induced 14 isoform a							70.0	79.0	76.0					5																	34823332		2203	4300	6503	SO:0001583	missense	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34823332G>C	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.1385G>C	5.37:g.34823332G>C	ENSP00000265109:p.Arg462Pro					RAI14_uc010iur.2_Missense_Mutation_p.R433P|RAI14_uc011coj.1_Missense_Mutation_p.R462P|RAI14_uc003jis.2_Missense_Mutation_p.R465P|RAI14_uc003jit.2_Missense_Mutation_p.R462P|RAI14_uc011cok.1_Missense_Mutation_p.R454P	p.R462P	NM_015577	NP_056392	Q9P0K7	RAI14_HUMAN			15	1581	+	all_lung(31;0.000191)		462			Potential.		E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	37	c.1385G>C	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.358789	0.24598	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29;2.29;2.29	5.54	2.41	0.29592	.	.	.	.	.	T	0.16896	0.0406	L	0.27053	0.805	0.09310	N	1	P;P;P;P	0.51537	0.946;0.911;0.946;0.911	P;B;P;P	0.52909	0.713;0.397;0.619;0.52	T	0.11060	-1.0603	9	0.48119	T	0.1	-3.9277	4.4638	0.11678	0.2762:0.0:0.575:0.1488	.	454;433;465;462	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	P	462;433;462;462;465;454;455	ENSP00000265109:R462P;ENSP00000422377:R433P;ENSP00000388725:R462P;ENSP00000422942:R462P;ENSP00000427123:R465P;ENSP00000423854:R454P;ENSP00000380591:R455P	ENSP00000265109:R462P	R	+	2	0	RAI14	34859089	0.742000	0.28228	0.005000	0.12908	0.435000	0.31806	1.925000	0.40074	0.158000	0.19367	0.555000	0.69702	CGA		0.443	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1		NM_015577		37	67	0	0	0	0.005524	0	37	67		
RAI14	26064	broad.mit.edu	37	5	34823439	34823439	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr5:34823439G>C	ENST00000265109.3	+	15	1779	c.1492G>C	c.(1492-1494)Gaa>Caa	p.E498Q	RAI14_ENST00000512629.1_Missense_Mutation_p.E469Q|RAI14_ENST00000506376.1_Missense_Mutation_p.E490Q|RAI14_ENST00000503673.1_Missense_Mutation_p.E498Q|RAI14_ENST00000397449.1_Missense_Mutation_p.E491Q|RAI14_ENST00000428746.2_Missense_Mutation_p.E498Q|RAI14_ENST00000515799.1_Missense_Mutation_p.E501Q	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	498						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					GGCTATGAAAGAAGTCCTTAG	0.438																																						uc003jir.2		NaN																	0				ovary(1)	1						c.(1492-1494)GAA>CAA		retinoic acid induced 14 isoform a							54.0	54.0	54.0					5																	34823439		2203	4300	6503	SO:0001583	missense	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34823439G>C	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.1492G>C	5.37:g.34823439G>C	ENSP00000265109:p.Glu498Gln					RAI14_uc010iur.2_Missense_Mutation_p.E469Q|RAI14_uc011coj.1_Missense_Mutation_p.E498Q|RAI14_uc003jis.2_Missense_Mutation_p.E501Q|RAI14_uc003jit.2_Missense_Mutation_p.E498Q|RAI14_uc011cok.1_Missense_Mutation_p.E490Q	p.E498Q	NM_015577	NP_056392	Q9P0K7	RAI14_HUMAN			15	1688	+	all_lung(31;0.000191)		498			Potential.		E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	37	c.1492G>C	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.319566	0.60524	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T	0.19532	2.14;2.14;2.14;2.14;2.14;2.14;2.14	5.64	5.64	0.86602	.	.	.	.	.	T	0.33789	0.0875	L	0.27053	0.805	0.38474	D	0.947542	D;D;P;D	0.89917	1.0;0.998;0.801;0.998	D;P;B;P	0.85130	0.997;0.852;0.324;0.852	T	0.08554	-1.0716	9	0.46703	T	0.11	-27.0085	15.2207	0.73308	0.0:0.14:0.86:0.0	.	490;469;501;498	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	Q	498;469;498;498;501;490;491	ENSP00000265109:E498Q;ENSP00000422377:E469Q;ENSP00000388725:E498Q;ENSP00000422942:E498Q;ENSP00000427123:E501Q;ENSP00000423854:E490Q;ENSP00000380591:E491Q	ENSP00000265109:E498Q	E	+	1	0	RAI14	34859196	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.361000	0.59461	2.673000	0.90976	0.555000	0.69702	GAA		0.438	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1		NM_015577		37	49	0	0	0	0.006999	0	37	49		
RAI14	26064	broad.mit.edu	37	5	34824386	34824386	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr5:34824386G>C	ENST00000265109.3	+	15	2726	c.2439G>C	c.(2437-2439)gaG>gaC	p.E813D	RAI14_ENST00000512629.1_Missense_Mutation_p.E784D|RAI14_ENST00000506376.1_Missense_Mutation_p.E805D|RAI14_ENST00000503673.1_Missense_Mutation_p.E813D|RAI14_ENST00000397449.1_Missense_Mutation_p.E806D|RAI14_ENST00000428746.2_Missense_Mutation_p.E813D|RAI14_ENST00000515799.1_Missense_Mutation_p.E816D	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	813						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					CTGTGAAAGAGAAAGAGAAGG	0.413																																						uc003jir.2		NaN																	0				ovary(1)	1						c.(2437-2439)GAG>GAC		retinoic acid induced 14 isoform a							121.0	126.0	124.0					5																	34824386		2203	4300	6503	SO:0001583	missense	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34824386G>C	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.2439G>C	5.37:g.34824386G>C	ENSP00000265109:p.Glu813Asp					RAI14_uc010iur.2_Missense_Mutation_p.E784D|RAI14_uc011coj.1_Missense_Mutation_p.E813D|RAI14_uc003jis.2_Missense_Mutation_p.E816D|RAI14_uc003jit.2_Missense_Mutation_p.E813D|RAI14_uc011cok.1_Missense_Mutation_p.E805D	p.E813D	NM_015577	NP_056392	Q9P0K7	RAI14_HUMAN			15	2635	+	all_lung(31;0.000191)		813			Potential.		E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	37	c.2439G>C	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414810	0.62511	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T	0.39406	1.13;1.08;1.13;1.13;1.12;1.17;1.15	5.48	2.74	0.32292	.	.	.	.	.	T	0.52224	0.1721	M	0.65975	2.015	0.40489	D	0.980523	D;D;D;D	0.61080	0.967;0.976;0.989;0.981	P;P;P;P	0.55615	0.718;0.527;0.78;0.607	T	0.55679	-0.8103	9	0.66056	D	0.02	-24.3348	9.9992	0.41918	0.2175:0.0:0.7825:0.0	.	805;784;816;813	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	D	813;784;813;813;816;805;806	ENSP00000265109:E813D;ENSP00000422377:E784D;ENSP00000388725:E813D;ENSP00000422942:E813D;ENSP00000427123:E816D;ENSP00000423854:E805D;ENSP00000380591:E806D	ENSP00000265109:E813D	E	+	3	2	RAI14	34860143	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	3.758000	0.55220	0.693000	0.31634	0.555000	0.69702	GAG		0.413	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1		NM_015577		60	128	0	0	0	0.01441	0	60	128		
C5orf42	65250	broad.mit.edu	37	5	37173929	37173929	+	Silent	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr5:37173929G>A	ENST00000508244.1	-	31	6192	c.6099C>T	c.(6097-6099)ttC>ttT	p.F2033F	C5orf42_ENST00000274258.7_Silent_p.F913F|C5orf42_ENST00000425232.2_Silent_p.F2033F			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2033			F -> C (in dbSNP:rs10076911). {ECO:0000269|PubMed:15489334}.|F -> S (in dbSNP:rs10076911).			integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ACTGAGCCGTGAATTCATTTC	0.403																																						uc011cpa.1		NaN																	0				ovary(4)|breast(2)|skin(1)	7						c.(6097-6099)TTC>TTT		hypothetical protein LOC65250							156.0	150.0	152.0					5																	37173929		2203	4300	6503	SO:0001819	synonymous_variant	65250							g.chr5:37173929G>A		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.6099C>T	5.37:g.37173929G>A						C5orf42_uc011coy.1_Silent_p.F533F|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Silent_p.F1108F|C5orf42_uc003jkr.1_Silent_p.F66F	p.F2033F	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		32	6330	-	all_lung(31;0.000616)		2033					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Silent	SNP	ENST00000508244.1	37	c.6099C>T	CCDS34146.2																																																																																				0.403	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1		NM_023073		64	91	0	0	0	0.01441	0	64	91		
GDNF	2668	broad.mit.edu	37	5	37816164	37816164	+	Silent	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr5:37816164C>T	ENST00000326524.2	-	3	424	c.225G>A	c.(223-225)ctG>ctA	p.L75L	GDNF_ENST00000515058.1_Silent_p.L49L|GDNF_ENST00000344622.4_Silent_p.L49L|GDNF_ENST00000381826.4_Silent_p.L66L|GDNF_ENST00000427982.1_Silent_p.L92L	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor	75					adult locomotory behavior (GO:0008344)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|enteric nervous system development (GO:0048484)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|metanephros development (GO:0001656)|mRNA stabilization (GO:0048255)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neuron projection development (GO:0031175)|organ induction (GO:0001759)|peristalsis (GO:0030432)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|postganglionic parasympathetic nervous system development (GO:0021784)|postsynaptic membrane organization (GO:0001941)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of morphogenesis of a branching structure (GO:0060688)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|ureteric bud formation (GO:0060676)	extracellular region (GO:0005576)	protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					GTGACCTTTTCAGTCTTTTAA	0.438																																						uc011cpi.1		NaN																	0					0						c.(223-225)CTG>CTA		glial cell derived neurotrophic factor isoform 1							74.0	78.0	77.0					5																	37816164		2203	4300	6503	SO:0001819	synonymous_variant	2668				adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity	g.chr5:37816164C>T		CCDS3922.1, CCDS3923.1, CCDS54845.1, CCDS54846.1, CCDS75237.1	5p13.1-p12	2014-01-30			ENSG00000168621	ENSG00000168621		"""Endogenous ligands"""	4232	protein-coding gene	gene with protein product	"""astrocyte-derived trophic factor"", ""glial cell line derived neurotrophic factor"", ""glial derived neurotrophic factor"""	600837				8493557	Standard	NM_199231		Approved	ATF1, ATF2, HFB1-GDNF	uc011cpg.2	P39905	OTTHUMG00000090809	ENST00000326524.2:c.225G>A	5.37:g.37816164C>T						GDNF_uc011cpc.1_Intron|GDNF_uc011cpd.1_Silent_p.L23L|GDNF_uc011cpe.1_Silent_p.L49L|GDNF_uc011cpf.1_Silent_p.L49L|GDNF_uc011cpg.1_Silent_p.L92L|GDNF_uc011cph.1_Silent_p.L66L	p.L75L	NM_000514	NP_000505	P39905	GDNF_HUMAN			3	425	-	all_lung(31;0.00118)		75					B7WPK7|O95448|O95449|O95986|Q6FH33|Q96L44|Q9UD32|Q9UD33|Q9UMV2|Q9UP67|Q9UP97	Silent	SNP	ENST00000326524.2	37	c.225G>A	CCDS3922.1																																																																																				0.438	GDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207606.1		NM_000514		41	89	0	0	0	0.00874	0	41	89		
NNT	23530	broad.mit.edu	37	5	43628317	43628317	+	Silent	SNP	A	A	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr5:43628317A>G	ENST00000264663.5	+	7	1013	c.792A>G	c.(790-792)gaA>gaG	p.E264E	NNT_ENST00000344920.4_Silent_p.E264E|NNT_ENST00000512996.2_Silent_p.E133E	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	264					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					CAGCTTTGGAACAGTTCAAGT	0.413																																						uc003joe.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(790-792)GAA>GAG		nicotinamide nucleotide transhydrogenase	NADH(DB00157)						116.0	119.0	118.0					5																	43628317		2203	4300	6503	SO:0001819	synonymous_variant	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43628317A>G	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.792A>G	5.37:g.43628317A>G						NNT_uc003jof.2_Silent_p.E264E	p.E264E	NM_012343	NP_036475	Q13423	NNTM_HUMAN			7	1047	+	Lung NSC(6;2.58e-06)		264			Mitochondrial matrix.		Q16796|Q2TB60|Q8N3V4	Silent	SNP	ENST00000264663.5	37	c.792A>G	CCDS3949.1																																																																																				0.413	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1		NM_182977		72	138	0	0	0	0.01441	0	72	138		
SKIV2L2	23517	broad.mit.edu	37	5	54640370	54640370	+	Silent	SNP	A	A	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr5:54640370A>G	ENST00000230640.5	+	9	1181	c.927A>G	c.(925-927)acA>acG	p.T309T	SKIV2L2_ENST00000545714.1_Silent_p.T208T	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	309					maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TTATTTACACAGATTATCGGC	0.348																																					Melanoma(2;92 134 23744 29976 33782)	uc003jpy.3		NaN																	0				ovary(1)|skin(1)	2						c.(925-927)ACA>ACG		superkiller viralicidic activity 2-like 2							73.0	68.0	70.0					5																	54640370		2203	4300	6503	SO:0001819	synonymous_variant	23517				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr5:54640370A>G	D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 118"""		"""KIAA0052"""	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.927A>G	5.37:g.54640370A>G						SKIV2L2_uc011cqi.1_Silent_p.T208T	p.T309T	NM_015360	NP_056175	P42285	SK2L2_HUMAN			9	1193	+		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)	309					Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Silent	SNP	ENST00000230640.5	37	c.927A>G	CCDS3967.1																																																																																				0.348	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1				16	35	0	0	0	0.007413	0	16	35		
POC5	134359	broad.mit.edu	37	5	74984960	74984960	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr5:74984960C>T	ENST00000428202.2	-	9	1195	c.1006G>A	c.(1006-1008)Gag>Aag	p.E336K	POC5_ENST00000380475.2_Missense_Mutation_p.E219K|POC5_ENST00000510798.1_Missense_Mutation_p.E219K|POC5_ENST00000446329.2_Missense_Mutation_p.E311K|POC5_ENST00000514838.2_Missense_Mutation_p.E308K	NM_001099271.1	NP_001092741.1	Q8NA72	POC5_HUMAN	POC5 centriolar protein	336					cell cycle (GO:0007049)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CTTTGAATCTCAGCTTTTGCA	0.308																																						uc003keh.3		NaN																	0				lung(1)	1						c.(1006-1008)GAG>AAG		proteome of centriole 5 isoform 1							64.0	57.0	59.0					5																	74984960		1796	4059	5855	SO:0001583	missense	134359				cell cycle	centriole		g.chr5:74984960C>T	AK093098	CCDS47236.1, CCDS47237.1	5q13.3	2013-08-05	2013-08-05	2010-03-26	ENSG00000152359	ENSG00000152359			26658	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 37"", ""POC5 centriolar protein homolog (Chlamydomonas)"""	C5orf37		19349582	Standard	NM_152408		Approved	FLJ35779, MGC120442, MGC120443, MGC120444, hPOC5	uc003keh.4	Q8NA72	OTTHUMG00000162487	ENST00000428202.2:c.1006G>A	5.37:g.74984960C>T	ENSP00000410216:p.Glu336Lys					POC5_uc010izu.2_Missense_Mutation_p.E219K|POC5_uc003keg.3_Missense_Mutation_p.E311K	p.E336K	NM_001099271	NP_001092741	Q8NA72	POC5_HUMAN			9	1203	-			336			Potential.		B4DJG7|Q494X7|Q494X9|Q6P085	Missense_Mutation	SNP	ENST00000428202.2	37	c.1006G>A	CCDS47236.1	.	.	.	.	.	.	.	.	.	.	C	33	5.201401	0.94997	.	.	ENSG00000152359	ENST00000428202;ENST00000514838;ENST00000380475;ENST00000510798;ENST00000446329	T;T;T;T;T	0.58060	1.39;1.0;0.36;0.36;1.37	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.75925	0.3916	M	0.82823	2.61	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.80764	0.994;0.994;0.994	T	0.79562	-0.1752	10	0.72032	D	0.01	-18.7758	19.0553	0.93062	0.0:1.0:0.0:0.0	.	219;336;311	Q8NA72-2;Q8NA72;Q8NA72-3	.;POC5_HUMAN;.	K	336;308;219;219;311	ENSP00000410216:E336K;ENSP00000420971:E308K;ENSP00000369842:E219K;ENSP00000426796:E219K;ENSP00000399481:E311K	ENSP00000369842:E219K	E	-	1	0	POC5	75020716	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.089000	0.76909	2.574000	0.86865	0.655000	0.94253	GAG		0.308	POC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369124.1		NM_152408		5	11	0	0	0	0.000602	0	5	11		
RASA1	5921	broad.mit.edu	37	5	86670043	86670043	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr5:86670043C>T	ENST00000274376.6	+	14	2404	c.1840C>T	c.(1840-1842)Cca>Tca	p.P614S	RASA1_ENST00000456692.2_Missense_Mutation_p.P437S|CTC-428H11.2_ENST00000607486.1_RNA|RASA1_ENST00000506290.1_Missense_Mutation_p.P448S|RASA1_ENST00000512763.1_Missense_Mutation_p.P447S	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	614	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		TTTTACTAATCCATATTGTAA	0.338																																						uc003kiw.2		NaN																	0				upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5						c.(1840-1842)CCA>TCA		RAS p21 protein activator 1 isoform 1							73.0	73.0	73.0					5																	86670043		2203	4300	6503	SO:0001583	missense	5921				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	g.chr5:86670043C>T		CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.1840C>T	5.37:g.86670043C>T	ENSP00000274376:p.Pro614Ser					RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Missense_Mutation_p.P437S|RASA1_uc011ctv.1_Missense_Mutation_p.P447S|RASA1_uc011ctw.1_Missense_Mutation_p.P448S|RASA1_uc010jaw.2_Missense_Mutation_p.P436S	p.P614S	NM_002890	NP_002881	P20936	RASA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)	14	1958	+		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	614			C2.		B2R6W3|Q9UDI1	Missense_Mutation	SNP	ENST00000274376.6	37	c.1840C>T	CCDS34200.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.591734	0.86953	.	.	ENSG00000145715	ENST00000274376;ENST00000534133;ENST00000456692;ENST00000512763;ENST00000506290	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	5.54	4.67	0.58626	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.097802	0.64402	D	0.000001	D	0.86875	0.6038	M	0.79805	2.47	0.80722	D	1	D;D;D;D;D	0.61697	0.981;0.976;0.981;0.976;0.99	P;P;P;P;D	0.63703	0.883;0.828;0.846;0.761;0.917	D	0.87587	0.2488	10	0.46703	T	0.11	.	14.6147	0.68539	0.0:0.9296:0.0:0.0704	.	448;447;448;437;614	E9PGC0;B4DTL2;B4DTX4;P20936-2;P20936	.;.;.;.;RASA1_HUMAN	S	614;647;437;447;448	ENSP00000274376:P614S;ENSP00000411221:P437S;ENSP00000422008:P447S;ENSP00000420905:P448S	ENSP00000274376:P614S	P	+	1	0	RASA1	86705799	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.772000	0.85439	1.472000	0.48140	0.650000	0.86243	CCA		0.338	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1		NM_002890		27	30	0	0	0	0.004656	0	27	30		
TEX43	389320	broad.mit.edu	37	5	125967431	125967431	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr5:125967431C>A	ENST00000357147.3	+	1	18	c.5C>A	c.(4-6)gCt>gAt	p.A2D		NM_207408.1	NP_997291.1	Q6ZNM6	TEX43_HUMAN		2										large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	7						TCAGGAATGGCTTCAGGGAAA	0.378																																						uc003kub.1		NaN																	0				ovary(1)	1						c.(4-6)GCT>GAT		hypothetical protein LOC389320							182.0	159.0	167.0					5																	125967431		2203	4300	6503	SO:0001583	missense	389320							g.chr5:125967431C>A																												ENST00000357147.3:c.5C>A	5.37:g.125967431C>A	ENSP00000349669:p.Ala2Asp						p.A2D	NM_207408	NP_997291	Q6ZNM6	CE048_HUMAN			1	18	+			2						Missense_Mutation	SNP	ENST00000357147.3	37	c.5C>A	CCDS4139.1	.	.	.	.	.	.	.	.	.	.	C	8.537	0.872479	0.17322	.	.	ENSG00000196900	ENST00000357147	.	.	.	3.96	3.06	0.35304	.	0.336684	0.21652	N	0.071179	T	0.29684	0.0741	L	0.29908	0.895	0.24748	N	0.992995	B	0.15719	0.014	B	0.15870	0.014	T	0.27262	-1.0079	9	0.72032	D	0.01	-13.2805	8.8963	0.35467	0.2223:0.7776:0.0:0.0	.	2	Q6ZNM6	CE048_HUMAN	D	2	.	ENSP00000349669:A2D	A	+	2	0	C5orf48	125995330	0.991000	0.36638	0.997000	0.53966	0.118000	0.20060	2.981000	0.49329	1.202000	0.43218	0.561000	0.74099	GCT		0.378	C5orf48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250923.1				25	76	1	0	4.7796e-09	0.004656	4.98578e-09	25	76		
TEX43	389320	broad.mit.edu	37	5	125967495	125967495	+	Silent	SNP	C	C	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr5:125967495C>G	ENST00000357147.3	+	1	82	c.69C>G	c.(67-69)ctC>ctG	p.L23L		NM_207408.1	NP_997291.1	Q6ZNM6	TEX43_HUMAN		23										large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	7						ATGAGAGTCTCTATAAATCTG	0.398																																						uc003kub.1		NaN																	0				ovary(1)	1						c.(67-69)CTC>CTG		hypothetical protein LOC389320							163.0	150.0	154.0					5																	125967495		2203	4300	6503	SO:0001819	synonymous_variant	389320							g.chr5:125967495C>G																												ENST00000357147.3:c.69C>G	5.37:g.125967495C>G							p.L23L	NM_207408	NP_997291	Q6ZNM6	CE048_HUMAN			1	82	+			23						Silent	SNP	ENST00000357147.3	37	c.69C>G	CCDS4139.1																																																																																				0.398	C5orf48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250923.1				27	66	0	0	0	0.007291	0	27	66		
FBN2	2201	broad.mit.edu	37	5	127654607	127654607	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr5:127654607C>T	ENST00000508053.1	-	41	5532	c.4558G>A	c.(4558-4560)Ggt>Agt	p.G1520S	FBN2_ENST00000262464.4_Missense_Mutation_p.G1520S			P35556	FBN2_HUMAN	fibrillin 2	1520	EGF-like 25; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AATTCATAACCATCATCGCAG	0.378																																						uc003kuu.2		NaN																	0				ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(4558-4560)GGT>AGT		fibrillin 2 precursor							116.0	107.0	111.0					5																	127654607		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127654607C>T	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.4558G>A	5.37:g.127654607C>T	ENSP00000424571:p.Gly1520Ser						p.G1520S	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	35	4997	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1520			EGF-like 25; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.4558G>A	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	35	5.444022	0.96187	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.92348	-3.02;-3.02	4.84	4.84	0.62591	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000003	D	0.96719	0.8929	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97274	0.9913	10	0.87932	D	0	.	18.5002	0.90878	0.0:1.0:0.0:0.0	.	1520	P35556	FBN2_HUMAN	S	1520	ENSP00000262464:G1520S;ENSP00000424571:G1520S	ENSP00000262464:G1520S	G	-	1	0	FBN2	127682506	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.609000	0.82925	2.679000	0.91253	0.655000	0.94253	GGT		0.378	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2		NM_001999		29	83	0	0	0	0.005443	0	29	83		
PCDHGA5	56110	broad.mit.edu	37	5	140744002	140744002	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr5:140744002G>A	ENST00000518069.1	+	1	105	c.105G>A	c.(103-105)atG>atA	p.M35I	PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	35	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTACTCGATGCCGGAGGAGC	0.667																																						uc003lju.1		NaN																	0				ovary(4)	4						c.(103-105)ATG>ATA		protocadherin gamma subfamily A, 5 isoform 1							32.0	41.0	38.0					5																	140744002		2184	4294	6478	SO:0001583	missense	56110				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140744002G>A	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.105G>A	5.37:g.140744002G>A	ENSP00000429834:p.Met35Ile					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Missense_Mutation_p.M35I	p.M35I	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	105	+			35			Cadherin 1.|Extracellular (Potential).		Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	ENST00000518069.1	37	c.105G>A	CCDS54925.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.885236	0.00532	.	.	ENSG00000253485	ENST00000518069	T	0.19938	2.11	5.38	-0.115	0.13560	Cadherin, N-terminal (1);Cadherin (1);Cadherin-like (1);	.	.	.	.	T	0.02012	0.0063	N	0.00019	-2.785	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.43163	-0.9408	9	0.02654	T	1	.	1.9554	0.03375	0.1368:0.2119:0.3335:0.3179	.	35;35	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	I	35	ENSP00000429834:M35I	ENSP00000429834:M35I	M	+	3	0	PCDHGA5	140724186	0.000000	0.05858	0.048000	0.18961	0.616000	0.37450	-0.181000	0.09740	0.043000	0.15746	0.558000	0.71614	ATG		0.667	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1		NM_018918		27	37	0	0	0	0.003954	0	27	37		
FAM193B	54540	broad.mit.edu	37	5	176951275	176951275	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr5:176951275G>A	ENST00000514747.1	-	6	2255	c.2207C>T	c.(2206-2208)tCa>tTa	p.S736L	FAM193B_ENST00000443375.2_Missense_Mutation_p.S703L|FAM193B_ENST00000329540.5_Missense_Mutation_p.S362L|FAM193B_ENST00000508298.1_5'Flank	NM_001190946.1	NP_001177875.1	Q96PV7	F193B_HUMAN	family with sequence similarity 193, member B	816						cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)	4						TGCTGGGCCTGAGGGCTGCAC	0.667																																						uc003mhs.3		NaN																	0					0						c.(2107-2109)CCA>CTA		hypothetical protein LOC54540							14.0	16.0	16.0					5																	176951275		2068	4198	6266	SO:0001583	missense	54540							g.chr5:176951275G>A		CCDS54954.1	5q35	2010-02-17			ENSG00000146067	ENSG00000146067			25524	protein-coding gene	gene with protein product		615813				11572484	Standard	NR_024019		Approved	KIAA1931, FLJ10404	uc003mhu.3	Q96PV7	OTTHUMG00000163396	ENST00000514747.1:c.2207C>T	5.37:g.176951275G>A	ENSP00000422131:p.Ser736Leu					FAM193B_uc003mhr.2_Missense_Mutation_p.S240L|FAM193B_uc003mht.2_Missense_Mutation_p.S362L|FAM193B_uc003mhu.2_Missense_Mutation_p.S415L|FAM193B_uc003mhv.2_Missense_Mutation_p.S362L|FAM193B_uc003mhw.2_RNA	p.P703L	NM_019057	NP_061930	E9PET5	E9PET5_HUMAN			8	3697	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					E9PET5|Q9NW00	Missense_Mutation	SNP	ENST00000514747.1	37	c.2108C>T	CCDS54954.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.363514	0.61513	.	.	ENSG00000146067	ENST00000514747;ENST00000443375;ENST00000329540	T;T;T	0.52754	0.65;0.65;0.65	5.59	5.59	0.84812	.	0.697800	0.14753	N	0.300478	T	0.49270	0.1547	L	0.54323	1.7	0.21933	N	0.99946	B;B;B	0.23990	0.095;0.045;0.045	B;B;B	0.26310	0.043;0.068;0.031	T	0.44802	-0.9304	10	0.51188	T	0.08	-0.2896	17.7772	0.88513	0.0:0.0:1.0:0.0	.	736;362;703	E9PET5;E7ER81;E9PEZ8	.;.;.	L	736;703;362	ENSP00000422131:S736L;ENSP00000410098:S703L;ENSP00000332014:S362L	ENSP00000332014:S362L	S	-	2	0	FAM193B	176883881	0.783000	0.28701	0.989000	0.46669	0.934000	0.57294	2.669000	0.46825	2.622000	0.88805	0.561000	0.74099	TCA		0.667	FAM193B-003	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373121.1		NM_019057		5	5	0	0	0	0.000602	0	5	5		
CANX	821	broad.mit.edu	37	5	179151700	179151700	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr5:179151700C>T	ENST00000247461.4	+	13	1761	c.1561C>T	c.(1561-1563)Caa>Taa	p.Q521*	CANX_ENST00000512607.2_Nonsense_Mutation_p.Q413*|CANX_ENST00000504734.1_Nonsense_Mutation_p.Q521*|CANX_ENST00000415618.2_Nonsense_Mutation_p.Q556*|CANX_ENST00000452673.2_Nonsense_Mutation_p.Q521*	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	521	Sufficient to mediate interaction with SGIP1. {ECO:0000250}.				aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|clathrin-mediated endocytosis (GO:0072583)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein secretion (GO:0009306)|synaptic vesicle endocytosis (GO:0048488)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ribosome (GO:0005840)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Antihemophilic Factor(DB00025)|Tenecteplase(DB00031)	TGATGCACCTCAACCGGATGT	0.398																																						uc003mkk.2		NaN																	0					0						c.(1561-1563)CAA>TAA		calnexin precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)						109.0	104.0	106.0					5																	179151700		2203	4300	6503	SO:0001587	stop_gained	821				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding	g.chr5:179151700C>T	L18887	CCDS4447.1	5q35	2008-07-18			ENSG00000127022	ENSG00000127022			1473	protein-coding gene	gene with protein product	"""major histocompatibility complex class I antigen-binding protein p88"""	114217				1326756, 8136357	Standard	NM_001746		Approved	CNX, IP90, P90	uc003mkl.3	P27824	OTTHUMG00000130910	ENST00000247461.4:c.1561C>T	5.37:g.179151700C>T	ENSP00000247461:p.Gln521*					CANX_uc011dgp.1_Nonsense_Mutation_p.Q556*|CANX_uc003mkl.2_Nonsense_Mutation_p.Q521*|CANX_uc011dgq.1_Nonsense_Mutation_p.Q413*	p.Q521*	NM_001746	NP_001737	P27824	CALX_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		13	1738	+	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	521			Cytoplasmic (Potential).		B2R5V8|B4DGP8|B4E2T8|D3DWQ3|D6R9K3	Nonsense_Mutation	SNP	ENST00000247461.4	37	c.1561C>T	CCDS4447.1	.	.	.	.	.	.	.	.	.	.	C	39	7.861311	0.98531	.	.	ENSG00000127022	ENST00000504734;ENST00000415618;ENST00000452673;ENST00000247461;ENST00000512607	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.0833	19.4834	0.95018	0.0:1.0:0.0:0.0	.	.	.	.	X	521;556;521;521;413	.	ENSP00000247461:Q521X	Q	+	1	0	CANX	179084306	1.000000	0.71417	0.998000	0.56505	0.744000	0.42396	5.911000	0.69939	2.702000	0.92279	0.650000	0.86243	CAA		0.398	CANX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253500.2		NM_001024649		38	74	0	0	0	0.00623	0	38	74		
VARS	7407	broad.mit.edu	37	6	31760563	31760563	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr6:31760563G>A	ENST00000375663.3	-	4	1072	c.632C>T	c.(631-633)tCa>tTa	p.S211L	VARS_ENST00000444930.2_5'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	211	GST C-terminal.				gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CCTGGCTCCTGAGTATAGAAC	0.562																																						uc003nxe.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(631-633)TCA>TTA		valyl-tRNA synthetase	L-Valine(DB00161)						60.0	61.0	60.0					6																	31760563		2203	4300	6503	SO:0001583	missense	7407				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	g.chr6:31760563G>A	BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	12651	protein-coding gene	gene with protein product	"""valine tRNA ligase 1, cytoplasmic"""	192150	"""valyl-tRNA synthetase 2"""	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.632C>T	6.37:g.31760563G>A	ENSP00000364815:p.Ser211Leu					VARS_uc011doi.1_RNA	p.S211L	NM_006295	NP_006286	P26640	SYVC_HUMAN			4	1055	-			211			GST C-terminal.		B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Missense_Mutation	SNP	ENST00000375663.3	37	c.632C>T	CCDS34412.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.060763	0.55432	.	.	ENSG00000204394	ENST00000375663	T	0.04406	3.63	5.35	5.35	0.76521	Glutathione S-transferase, C-terminal-like (1);Glutathione S-transferase/chloride channel, C-terminal (1);	0.341488	0.28130	N	0.016488	T	0.02380	0.0073	L	0.34521	1.04	0.80722	D	1	B	0.26672	0.156	B	0.19666	0.026	T	0.40059	-0.9583	10	0.87932	D	0	-22.8932	14.5741	0.68232	0.0:0.0:1.0:0.0	.	211	P26640	SYVC_HUMAN	L	211	ENSP00000364815:S211L	ENSP00000364815:S211L	S	-	2	0	VARS	31868542	0.840000	0.29493	0.998000	0.56505	0.747000	0.42532	3.350000	0.52224	2.498000	0.84270	0.467000	0.42956	TCA		0.562	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2		NM_006295		68	25	0	0	0	0.01441	0	68	25		
GPR110	266977	broad.mit.edu	37	6	46977913	46977913	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr6:46977913G>C	ENST00000371253.2	-	11	1473	c.1258C>G	c.(1258-1260)Ctt>Gtt	p.L420V	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.L223V	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	420					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						TTCAGAGGAAGAGCTGTCGGA	0.438																																						uc003oyt.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(1258-1260)CTT>GTT		G-protein coupled receptor 110 isoform 1							84.0	80.0	81.0					6																	46977913		2203	4300	6503	SO:0001583	missense	266977				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46977913G>C	AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.1258C>G	6.37:g.46977913G>C	ENSP00000360299:p.Leu420Val					GPR110_uc011dwl.1_Missense_Mutation_p.L108V	p.L420V	NM_153840	NP_722582	Q5T601	GP110_HUMAN			11	1457	-			420			Extracellular (Potential).		Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Missense_Mutation	SNP	ENST00000371253.2	37	c.1258C>G	CCDS34471.1	.	.	.	.	.	.	.	.	.	.	G	7.930	0.740535	0.15642	.	.	ENSG00000153292	ENST00000371252;ENST00000371253;ENST00000283297	T;T	0.34072	1.39;1.38	5.35	2.4	0.29515	.	0.154322	0.30003	N	0.010654	T	0.20981	0.0505	M	0.71581	2.175	0.31197	N	0.700268	D	0.54397	0.966	P	0.46144	0.505	T	0.04522	-1.0945	10	0.26408	T	0.33	-10.7792	7.3846	0.26874	0.1379:0.0:0.6448:0.2173	.	420	Q5T601	GP110_HUMAN	V	420;420;223	ENSP00000360299:L420V;ENSP00000283297:L223V	ENSP00000283297:L223V	L	-	1	0	GPR110	47085872	0.524000	0.26282	0.981000	0.43875	0.239000	0.25481	1.908000	0.39907	0.726000	0.32339	0.555000	0.69702	CTT		0.438	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2		NM_153840		32	103	0	0	0	0.010818	0	32	103		
PRIM2	5558	broad.mit.edu	37	6	57512667	57512667	+	3'UTR	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr6:57512667G>A	ENST00000389488.2	+	0	1582				PRIM2_ENST00000607273.1_3'UTR			P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		AATGGATATGGAAGGACTAGA	0.398																																						uc003pdx.2		NaN																	0					0						c.(1495-1497)GAA>AAA		DNA primase polypeptide 2							379.0	368.0	371.0					6																	57512667		1934	4141	6075	SO:0001624	3_prime_UTR_variant	5558				DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding	g.chr6:57512667G>A		CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000389488.2:c.*1579G>A	6.37:g.57512667G>A							p.E499K	NM_000947	NP_000938	P49643	PRI2_HUMAN		Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)	15	1582	+			499					Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Missense_Mutation	SNP	ENST00000389488.2	37	c.1495G>A																																																																																					0.398	PRIM2-001	KNOWN	sequence_error|basic	processed_transcript	protein_coding	OTTHUMT00000043468.3		NM_000947		70	620	0	0	0	0.01441	0	70	620		
ANKRD6	22881	broad.mit.edu	37	6	90327727	90327727	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr6:90327727C>G	ENST00000522441.1	+	9	1410	c.769C>G	c.(769-771)Ctt>Gtt	p.L257V	ANKRD6_ENST00000369408.5_Missense_Mutation_p.L257V|ANKRD6_ENST00000520793.1_Intron|ANKRD6_ENST00000447838.2_Missense_Mutation_p.L257V|ANKRD6_ENST00000485637.1_Missense_Mutation_p.L257V|ANKRD6_ENST00000339746.4_Missense_Mutation_p.L257V	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	257					negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of JNK cascade (GO:0046330)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		GGAAGTTGCTCTTCTCCTTAC	0.542																																						uc003pni.3		NaN																	0				ovary(2)|pancreas(1)	3						c.(769-771)CTT>GTT		ankyrin repeat domain 6							137.0	139.0	138.0					6																	90327727		1970	4150	6120	SO:0001583	missense	22881						protein binding	g.chr6:90327727C>G	AB023174	CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1	6q14.2-q16.1	2013-03-20			ENSG00000135299	ENSG00000135299		"""Ankyrin repeat domain containing"""	17280	protein-coding gene	gene with protein product		610583					Standard	NM_001242809		Approved	KIAA0957	uc003pni.4	Q9Y2G4	OTTHUMG00000015202	ENST00000522441.1:c.769C>G	6.37:g.90327727C>G	ENSP00000430985:p.Leu257Val					ANKRD6_uc003pne.3_Missense_Mutation_p.L257V|ANKRD6_uc003pnf.3_Missense_Mutation_p.L257V|ANKRD6_uc011dzy.1_Missense_Mutation_p.L257V|ANKRD6_uc010kcd.2_Intron|LYRM2_uc010kce.1_Intron|LYRM2_uc003png.2_Intron|ANKRD6_uc003pnh.3_5'UTR	p.L257V	NM_014942	NP_055757	Q9Y2G4	ANKR6_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0209)	9	1110	+		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)	257			ANK 8.		B3KUC3|Q5JUJ4|Q5JUJ5|Q8IUQ8|Q9NU24|Q9UFQ9	Missense_Mutation	SNP	ENST00000522441.1	37	c.769C>G	CCDS56441.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.292545	0.80914	.	.	ENSG00000135299	ENST00000369408;ENST00000339746;ENST00000447838;ENST00000522441;ENST00000485637	T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1	5.93	5.93	0.95920	Ankyrin repeat-containing domain (4);	0.000000	0.45606	D	0.000360	T	0.60637	0.2284	N	0.13198	0.31	0.80722	D	1	D;D;D	0.76494	0.985;0.999;0.995	D;D;D	0.80764	0.918;0.994;0.956	T	0.65804	-0.6079	10	0.51188	T	0.08	-9.2845	19.3377	0.94326	0.0:1.0:0.0:0.0	.	257;257;257	Q9Y2G4;Q9Y2G4-1;C9JJE8	ANKR6_HUMAN;.;.	V	257	ENSP00000358416:L257V;ENSP00000345767:L257V;ENSP00000396771:L257V;ENSP00000430985:L257V;ENSP00000430954:L257V	ENSP00000345767:L257V	L	+	1	0	ANKRD6	90384448	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.779000	0.75057	2.814000	0.96858	0.591000	0.81541	CTT		0.542	ANKRD6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376594.1				65	47	0	0	0	0.01441	0	65	47		
CEP57L1	285753	broad.mit.edu	37	6	109471320	109471320	+	Splice_Site	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr6:109471320G>C	ENST00000517392.1	+	4	766		c.e4-1		CEP57L1_ENST00000359793.3_Splice_Site|CEP57L1_ENST00000407272.1_Splice_Site|CEP57L1_ENST00000519095.1_Splice_Site|CEP57L1_ENST00000520883.1_Intron|CEP57L1_ENST00000521277.1_Intron|CEP57L1_ENST00000521522.1_Splice_Site|CEP57L1_ENST00000523787.1_Splice_Site|CEP57L1_ENST00000368968.2_Splice_Site|CEP57L1_ENST00000368970.2_Splice_Site|CEP57L1_ENST00000336977.4_Intron	NM_001271852.1|NM_001271853.1	NP_001258781.1|NP_001258782.1	Q8IYX8	CE57L_HUMAN	centrosomal protein 57kDa-like 1						microtubule anchoring (GO:0034453)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						ttatttcATAGATATAAGTAT	0.378																																						uc010kdk.2		NaN																	0					0						c.e6-1		hypothetical protein LOC285753							53.0	55.0	54.0					6																	109471320		2203	4300	6503	SO:0001630	splice_region_variant	285753					microtubule|microtubule organizing center		g.chr6:109471320G>C	AK092723	CCDS5071.1, CCDS64491.1	6q21	2014-01-28	2010-09-30	2010-09-30	ENSG00000183137	ENSG00000183137			21561	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 182"""	C6orf182			Standard	NM_001083535		Approved	bA487F23.2, MGC21731	uc003psy.4	Q8IYX8	OTTHUMG00000015336	ENST00000517392.1:c.341-1G>C	6.37:g.109471320G>C						C6orf182_uc003psv.3_Intron|C6orf182_uc003psw.3_Splice_Site_p.D114_splice|C6orf182_uc003psx.3_Splice_Site_p.D114_splice|C6orf182_uc010kdl.2_Splice_Site_p.D114_splice|C6orf182_uc003psy.3_Splice_Site_p.D114_splice	p.D114_splice	NM_001083535	NP_001077004	Q8IYX8	CE57L_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00123)|Epithelial(106;0.0022)|all cancers(137;0.00405)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)	6	918	+		all_cancers(87;4.45e-07)|Acute lymphoblastic leukemia(125;2.15e-10)|all_hematologic(75;3.25e-08)|all_epithelial(87;0.000254)|Colorectal(196;0.0293)|all_lung(197;0.11)						G5E992	Splice_Site	SNP	ENST00000517392.1	37	c.341_splice	CCDS5071.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.339574	0.60963	.	.	ENSG00000183137	ENST00000517392;ENST00000407272;ENST00000540778;ENST00000519286;ENST00000518853;ENST00000521522;ENST00000524064;ENST00000519095;ENST00000368968;ENST00000368970;ENST00000523787;ENST00000359793	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9698	0.92711	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CEP57L1	109578013	1.000000	0.71417	0.997000	0.53966	0.747000	0.42532	7.537000	0.82033	2.589000	0.87451	0.462000	0.41574	.		0.378	CEP57L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041734.4		NM_173830	Intron	55	25	0	0	0	0.01441	0	55	25		
PMS2	5395	broad.mit.edu	37	7	6045538	6045538	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr7:6045538C>G	ENST00000265849.7	-	2	253	c.148G>C	c.(148-150)Ggt>Cgt	p.G50R	PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Missense_Mutation_p.G50R|PMS2_ENST00000441476.2_5'Flank|Y_RNA_ENST00000365120.1_RNA|PMS2_ENST00000382321.4_Missense_Mutation_p.G50R	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	50					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		TTAGTGGCACCAGCATCCAGA	0.398			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													uc003spl.2		NaN	yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	7	7p22	5395	Mis|N|F	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)			E		colorectal|endometrial|ovarian|medulloblastoma|glioma			0				lung(1)|central_nervous_system(1)	2						c.(148-150)GGT>CGT	Direct_reversal_of_damage|MMR	PMS2 postmeiotic segregation increased 2 isoform							317.0	392.0	364.0					7																	6045538		1367	2323	3690	SO:0001583	missense	5395	Lynch_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding	g.chr7:6045538C>G		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.148G>C	7.37:g.6045538C>G	ENSP00000265849:p.Gly50Arg					PMS2_uc003spj.2_5'Flank|PMS2_uc003spk.2_5'UTR|PMS2_uc011jwl.1_Intron|PMS2_uc010ktg.2_5'UTR|PMS2_uc010kte.2_Missense_Mutation_p.G50R|PMS2_uc010ktf.1_Missense_Mutation_p.G50R	p.G50R	NM_000535	NP_000526	P54278	PMS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)	2	235	-		Ovarian(82;0.0694)	50					B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	ENST00000265849.7	37	c.148G>C	CCDS5343.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.594617	0.86953	.	.	ENSG00000122512	ENST00000265849;ENST00000382321;ENST00000406569	D;D;D	0.94828	-3.53;-3.53;-3.53	5.67	4.79	0.61399	DNA mismatch repair protein, N-terminal (1);ATPase-like, ATP-binding domain (4);	0.000000	0.85682	D	0.000000	D	0.97742	0.9259	M	0.93062	3.375	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;1.0	D	0.98083	1.0405	10	0.49607	T	0.09	.	14.891	0.70609	0.0:0.9308:0.0:0.0692	.	50;50;50	P54278-3;P54278-2;P54278	.;.;PMS2_HUMAN	R	50	ENSP00000265849:G50R;ENSP00000371758:G50R;ENSP00000384308:G50R	ENSP00000265849:G50R	G	-	1	0	PMS2	6012064	0.997000	0.39634	0.978000	0.43139	0.998000	0.95712	3.769000	0.55303	1.393000	0.46605	0.585000	0.79938	GGT		0.398	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3		NM_000535		175	379	0	0	0	0.01441	0	175	379		
AGMO	392636	broad.mit.edu	37	7	15430465	15430465	+	Splice_Site	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr7:15430465C>T	ENST00000342526.3	-	7	911	c.742G>A	c.(742-744)Ggg>Agg	p.G248R		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	248					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						TTTTACTTACCAAAAATTTTA	0.264																																						uc003stb.1		NaN																	0					0						c.(742-744)GGG>AGG		transmembrane protein 195							34.0	37.0	36.0					7																	15430465		2181	4271	6452	SO:0001630	splice_region_variant	392636				ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	g.chr7:15430465C>T		CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"""Fatty acid hydroxylase domain containing"""	33784	protein-coding gene	gene with protein product		613738	"""transmembrane protein 195"""	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.742+1G>A	7.37:g.15430465C>T							p.G248R	NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN			7	912	-			248					A4D114|A6NCH5	Missense_Mutation	SNP	ENST00000342526.3	37	c.742G>A	CCDS34604.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.502773	0.85176	.	.	ENSG00000187546	ENST00000342526	T	0.58210	0.35	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.76593	0.4009	M	0.84773	2.715	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	T	0.78703	-0.2101	9	.	.	.	-27.7432	19.375	0.94505	0.0:1.0:0.0:0.0	.	248	Q6ZNB7	ALKMO_HUMAN	R	248	ENSP00000341662:G248R	.	G	-	1	0	AGMO	15396990	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.904000	0.63279	2.648000	0.89879	0.591000	0.81541	GGG		0.264	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2		NM_001004320	Missense_Mutation	29	43	0	0	0	0.007291	0	29	43		
AGR3	155465	broad.mit.edu	37	7	16913467	16913467	+	Splice_Site	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr7:16913467C>T	ENST00000310398.2	-	3	180	c.110G>A	c.(109-111)gGa>gAa	p.G37E	AGR3_ENST00000402239.3_Splice_Site_p.G37E	NM_176813.3	NP_789783.1	Q8TD06	AGR3_HUMAN	anterior gradient 3	37						extracellular region (GO:0005576)	dystroglycan binding (GO:0002162)			central_nervous_system(1)|kidney(8)|lung(2)|skin(1)|stomach(1)	13	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		ATCTCCCCATCCTGAAATAGA	0.353																																						uc003sts.2		NaN																	0					0						c.(109-111)GGA>GAA		breast cancer membrane protein 11 precursor							96.0	95.0	95.0					7																	16913467		2203	4300	6503	SO:0001630	splice_region_variant	155465					extracellular region		g.chr7:16913467C>T	AY069977	CCDS5365.1	7p21.1	2013-07-31	2013-07-31		ENSG00000173467	ENSG00000173467		"""Protein disulfide isomerases"""	24167	protein-coding gene	gene with protein product	"""breast cancer membrane protein 11"", ""protein disulfide isomerase family A, member 18"""	609482	"""anterior gradient 3 homolog (Xenopus laevis)"""			12592373, 12477722	Standard	NM_176813		Approved	HAG3, hAG-3, BCMP11, PDIA18	uc003sts.3	Q8TD06	OTTHUMG00000128411	ENST00000310398.2:c.110-1G>A	7.37:g.16913467C>T							p.G37E	NM_176813	NP_789783	Q8TD06	AGR3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.184)	3	183	-	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)		37					A4D120	Missense_Mutation	SNP	ENST00000310398.2	37	c.110G>A	CCDS5365.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.662662	0.67700	.	.	ENSG00000173467	ENST00000310398;ENST00000402239	.	.	.	4.16	4.16	0.48862	Thioredoxin-like fold (1);	0.000000	0.56097	D	0.000037	T	0.75759	0.3893	M	0.64997	1.995	0.54753	D	0.999983	D	0.89917	1.0	D	0.83275	0.996	T	0.78324	-0.2248	9	0.62326	D	0.03	.	14.7872	0.69813	0.0:1.0:0.0:0.0	.	37	Q8TD06	AGR3_HUMAN	E	37	.	ENSP00000308606:G37E	G	-	2	0	AGR3	16879992	0.991000	0.36638	0.998000	0.56505	0.819000	0.46315	2.829000	0.48128	2.306000	0.77630	0.557000	0.71058	GGA		0.353	AGR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250191.2		NM_176813	Missense_Mutation	26	47	0	0	0	0.007291	0	26	47		
DFNA5	1687	broad.mit.edu	37	7	24784190	24784190	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr7:24784190G>C	ENST00000342947.3	-	3	820	c.395C>G	c.(394-396)tCt>tGt	p.S132C	DFNA5_ENST00000419307.1_5'UTR|DFNA5_ENST00000545231.1_5'UTR|DFNA5_ENST00000409775.3_Missense_Mutation_p.S132C|DFNA5_ENST00000409970.1_5'UTR	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	132					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						CCTCTCGGCAGAGTCTCTGAT	0.493																																					GBM(78;184 1250 20134 20900 23600)	uc010kus.1		NaN																	0				ovary(1)	1						c.(394-396)TCT>TGT		deafness, autosomal dominant 5 protein isoform							119.0	116.0	117.0					7																	24784190		2203	4300	6503	SO:0001583	missense	1687				sensory perception of sound			g.chr7:24784190G>C	AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.395C>G	7.37:g.24784190G>C	ENSP00000339587:p.Ser132Cys					DFNA5_uc003swz.2_5'UTR|DFNA5_uc003sxa.1_Missense_Mutation_p.S132C|DFNA5_uc010kut.1_5'UTR|DFNA5_uc003sxb.2_Missense_Mutation_p.S132C|DFNA5_uc003sxc.2_Missense_Mutation_p.S132C	p.S132C	NM_001127453	NP_001120925	O60443	DFNA5_HUMAN			3	483	-			132					A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Missense_Mutation	SNP	ENST00000342947.3	37	c.395C>G	CCDS5389.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.260340	0.39995	.	.	ENSG00000105928	ENST00000342947;ENST00000409775	T;T	0.24908	1.83;1.83	5.59	5.59	0.84812	.	0.839141	0.11216	N	0.587181	T	0.36110	0.0955	L	0.43152	1.355	0.27044	N	0.963942	D;P	0.69078	0.997;0.927	P;P	0.60173	0.87;0.749	T	0.21518	-1.0243	10	0.38643	T	0.18	-9.6746	7.2927	0.26374	0.2019:0.0:0.7981:0.0	.	132;132	A4FTY0;O60443	.;DFNA5_HUMAN	C	132	ENSP00000339587:S132C;ENSP00000386670:S132C	ENSP00000339587:S132C	S	-	2	0	DFNA5	24750715	0.102000	0.21896	0.006000	0.13384	0.009000	0.06853	2.941000	0.49011	2.645000	0.89757	0.650000	0.86243	TCT		0.493	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214060.2		NM_004403		59	73	0	0	0	0.01441	0	59	73		
OSBPL3	26031	broad.mit.edu	37	7	24856260	24856260	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr7:24856260G>A	ENST00000313367.2	-	18	2447	c.1996C>T	c.(1996-1998)Cca>Tca	p.P666S	OSBPL3_ENST00000431825.2_Missense_Mutation_p.P599S|OSBPL3_ENST00000396431.1_Missense_Mutation_p.P635S|OSBPL3_ENST00000352860.1_Missense_Mutation_p.P635S|OSBPL3_ENST00000487020.1_5'Flank|OSBPL3_ENST00000409069.1_Missense_Mutation_p.P599S|OSBPL3_ENST00000396429.1_Missense_Mutation_p.P630S|OSBPL3_ENST00000353930.1_Missense_Mutation_p.P630S	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	666					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						GTGCCAATTGGAACAATTTCC	0.398																																						uc003sxf.2		NaN																	0				skin(1)	1						c.(1996-1998)CCA>TCA		oxysterol-binding protein-like protein 3 isoform							173.0	157.0	163.0					7																	24856260		2203	4300	6503	SO:0001583	missense	26031				lipid transport		lipid binding|protein binding	g.chr7:24856260G>A	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.1996C>T	7.37:g.24856260G>A	ENSP00000315410:p.Pro666Ser					OSBPL3_uc003sxd.2_RNA|OSBPL3_uc003sxe.2_RNA|OSBPL3_uc003sxg.2_Missense_Mutation_p.P630S|OSBPL3_uc003sxh.2_Missense_Mutation_p.P635S|OSBPL3_uc003sxi.2_Missense_Mutation_p.P599S	p.P666S	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN			18	2401	-			666					A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Missense_Mutation	SNP	ENST00000313367.2	37	c.1996C>T	CCDS5390.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.002309	0.93227	.	.	ENSG00000070882	ENST00000313367;ENST00000352860;ENST00000353930;ENST00000431825;ENST00000396431;ENST00000396429;ENST00000409069	T;T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44;1.44	5.59	5.59	0.84812	.	0.048047	0.85682	D	0.000000	T	0.60143	0.2246	M	0.90019	3.08	0.80722	D	1	D;B;B;B	0.56035	0.974;0.395;0.324;0.184	P;B;B;P	0.55871	0.786;0.35;0.275;0.482	T	0.67055	-0.5767	10	0.59425	D	0.04	-13.9741	20.0084	0.97443	0.0:0.0:1.0:0.0	.	599;635;630;666	Q9H4L5-4;Q9H4L5-2;Q9H4L5-3;Q9H4L5	.;.;.;OSBL3_HUMAN	S	666;635;630;599;635;630;599	ENSP00000315410:P666S;ENSP00000315331:P635S;ENSP00000315277:P630S;ENSP00000389779:P599S;ENSP00000379708:P635S;ENSP00000379706:P630S;ENSP00000386953:P599S	ENSP00000315410:P666S	P	-	1	0	OSBPL3	24822785	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.804000	0.99143	2.814000	0.96858	0.650000	0.86243	CCA		0.398	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2				74	116	0	0	0	0.01441	0	74	116		
AKAP9	10142	broad.mit.edu	37	7	91603051	91603051	+	Silent	SNP	T	T	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr7:91603051T>C	ENST00000359028.2	+	3	336	c.111T>C	c.(109-111)gcT>gcC	p.A37A	AKAP9_ENST00000356239.3_Silent_p.A25A|AKAP9_ENST00000394564.1_Silent_p.A25A|AKAP9_ENST00000358100.2_Silent_p.A37A			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	37					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAAGAAAAGCTCAGTCGGATG	0.368			T	BRAF	papillary thyroid																																	uc003ulg.2		NaN		Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26						c.(73-75)GCT>GCC		A-kinase anchor protein 9 isoform 2							40.0	41.0	40.0					7																	91603051		2197	4298	6495	SO:0001819	synonymous_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91603051T>C	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.111T>C	7.37:g.91603051T>C						AKAP9_uc003uld.3_Silent_p.A25A|AKAP9_uc003ule.2_Silent_p.A37A|AKAP9_uc003ulf.2_Silent_p.A25A	p.A25A	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		2	300	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		37					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	37	c.75T>C																																																																																					0.368	AKAP9-202	KNOWN	basic	protein_coding	protein_coding			NM_005751		17	34	0	0	0	0.008871	0	17	34		
ZNF394	84124	broad.mit.edu	37	7	99096378	99096378	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr7:99096378C>T	ENST00000337673.6	-	2	747	c.544G>A	c.(544-546)Gag>Aag	p.E182K	ZNF394_ENST00000426306.2_Intron|ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000394177.3_5'UTR|ZNF789_ENST00000494186.1_Intron	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	182	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TGCGCACTCTCTCTGCAGAAG	0.577																																					Ovarian(24;589 697 9939 12704 40742)	uc003uqs.2		NaN																	0					0						c.(544-546)GAG>AAG		zinc finger protein 394							131.0	97.0	109.0					7																	99096378		2203	4300	6503	SO:0001583	missense	84124				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99096378C>T	BC025241	CCDS5666.1	7q22.1	2014-01-28			ENSG00000160908	ENSG00000160908		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	18832	protein-coding gene	gene with protein product							Standard	NM_032164		Approved	ZKSCAN14, FLJ12298, ZSCAN46	uc003uqs.3	Q53GI3	OTTHUMG00000154660	ENST00000337673.6:c.544G>A	7.37:g.99096378C>T	ENSP00000337363:p.Glu182Lys					ZNF394_uc003uqt.2_Intron|ZNF394_uc003uqu.1_Missense_Mutation_p.E182K	p.E182K	NM_032164	NP_115540	Q53GI3	ZN394_HUMAN			2	705	-	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		182			KRAB.		A4D281|Q05DA6|Q6P5X9|Q8TB27|Q9HA37|Q9UD51	Missense_Mutation	SNP	ENST00000337673.6	37	c.544G>A	CCDS5666.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.204822	0.38905	.	.	ENSG00000160908	ENST00000337673	T	0.01933	4.55	4.31	3.43	0.39272	Krueppel-associated box (4);	0.326711	0.22395	N	0.060622	T	0.05640	0.0148	L	0.53729	1.69	0.44079	D	0.996835	P	0.51449	0.945	P	0.53313	0.723	T	0.43475	-0.9389	10	0.44086	T	0.13	.	10.6476	0.45630	0.0:0.9051:0.0:0.0949	.	182	Q53GI3	ZN394_HUMAN	K	182	ENSP00000337363:E182K	ENSP00000337363:E182K	E	-	1	0	ZNF394	98934314	0.000000	0.05858	0.031000	0.17742	0.054000	0.15201	0.062000	0.14389	1.424000	0.47217	0.563000	0.77884	GAG		0.577	ZNF394-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336498.1		NM_032164		20	44	0	0	0	0.010504	0	20	44		
KMT2E	55904	broad.mit.edu	37	7	104753361	104753361	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr7:104753361C>G	ENST00000311117.3	+	27	5703	c.5158C>G	c.(5158-5160)Ccg>Gcg	p.P1720A	KMT2E_ENST00000257745.4_Missense_Mutation_p.P1720A|SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000334877.4_Missense_Mutation_p.P1678A	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1720	Pro-rich. {ECO:0000255}.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										ACCACCCCCTCCGCCGCCACC	0.552																																						uc003vcm.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(5158-5160)CCG>GCG		myeloid/lymphoid or mixed-lineage leukemia 5							126.0	113.0	117.0					7																	104753361		2203	4300	6503	SO:0001583	missense	55904				cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding	g.chr7:104753361C>G	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.5158C>G	7.37:g.104753361C>G	ENSP00000312379:p.Pro1720Ala					MLL5_uc010ljc.2_Missense_Mutation_p.P1720A|MLL5_uc010ljf.1_Intron|MLL5_uc010ljg.2_Missense_Mutation_p.P454A	p.P1720A	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN			27	5692	+			1720			Pro-rich.		B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	c.5158C>G	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	c	2.572	-0.299370	0.05532	.	.	ENSG00000005483	ENST00000311117;ENST00000334877;ENST00000351043;ENST00000257745	D;D;D	0.95690	-3.65;-3.78;-3.65	3.79	2.9	0.33743	.	0.349959	0.20076	N	0.099750	D	0.89955	0.6865	N	0.19112	0.55	0.45594	D	0.998536	B;B	0.34290	0.447;0.083	B;B	0.33254	0.16;0.072	D	0.87476	0.2417	10	0.62326	D	0.03	.	11.387	0.49791	0.0:0.9092:0.0:0.0908	.	1640;1720	F8W6H1;Q8IZD2	.;MLL5_HUMAN	A	1720;1678;1640;1720	ENSP00000312379:P1720A;ENSP00000335599:P1678A;ENSP00000257745:P1720A	ENSP00000257745:P1720A	P	+	1	0	MLL5	104540597	0.746000	0.28272	0.019000	0.16419	0.982000	0.71751	4.143000	0.58051	0.728000	0.32382	0.454000	0.30748	CCG		0.552	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1				41	46	0	0	0	0.00874	0	41	46		
SLC26A4	5172	broad.mit.edu	37	7	107335098	107335098	+	Silent	SNP	G	G	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr7:107335098G>T	ENST00000265715.3	+	12	1598	c.1374G>T	c.(1372-1374)ctG>ctT	p.L458L	SLC26A4_ENST00000543100.1_Silent_p.L27L|SLC26A4_ENST00000544569.1_Silent_p.L45L|SLC26A4_ENST00000541474.1_Silent_p.L19L|SLC26A4_ENST00000480841.1_3'UTR	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	458					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TTGCCAACCTGAAAGGGATGT	0.418									Pendred syndrome																													uc003vep.2		NaN																	0				ovary(3)|central_nervous_system(2)|skin(2)	7						c.(1372-1374)CTG>CTT		pendrin							169.0	153.0	158.0					7																	107335098		2203	4300	6503	SO:0001819	synonymous_variant	5172	Pendred_syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107335098G>T	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.1374G>T	7.37:g.107335098G>T						SLC26A4_uc011kmb.1_Silent_p.L45L|SLC26A4_uc011kmc.1_Silent_p.L19L|SLC26A4_uc011kmd.1_Silent_p.L27L	p.L458L	NM_000441	NP_000432	O43511	S26A4_HUMAN			12	1598	+			458			Helical; (Potential).		B7Z266|O43170	Silent	SNP	ENST00000265715.3	37	c.1374G>T	CCDS5746.1																																																																																				0.418	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1		NM_000441		40	75	1	0	6.61955e-31	0.01441	7.42954e-31	40	75		
FLNC	2318	broad.mit.edu	37	7	128470904	128470904	+	Silent	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr7:128470904C>T	ENST00000325888.8	+	1	474	c.213C>T	c.(211-213)atC>atT	p.I71I	FLNC_ENST00000346177.6_Silent_p.I71I	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	71	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCCGGCTCATCGCGCTGCTCG	0.637																																						uc003vnz.3		NaN																	0				breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						c.(211-213)ATC>ATT		gamma filamin isoform a							46.0	48.0	47.0					7																	128470904		2203	4300	6503	SO:0001819	synonymous_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128470904C>T	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.213C>T	7.37:g.128470904C>T						FLNC_uc003voa.3_Silent_p.I71I	p.I71I	NM_001458	NP_001449	Q14315	FLNC_HUMAN			1	422	+			71			CH 1.|Actin-binding.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	c.213C>T	CCDS43644.1																																																																																				0.637	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3				16	35	0	0	0	0.003163	0	16	35		
GIMAP8	155038	broad.mit.edu	37	7	150174632	150174632	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr7:150174632C>T	ENST00000307271.3	+	5	2336	c.1762C>T	c.(1762-1764)Cgg>Tgg	p.R588W		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	588	AIG1-type G 3.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CAAAGCCCTTCGGCGCATTTT	0.463																																						uc003whj.2		NaN																	0				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(1762-1764)CGG>TGG		GTPase, IMAP family member 8							73.0	84.0	80.0					7																	150174632		2203	4300	6503	SO:0001583	missense	155038					endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	g.chr7:150174632C>T	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"""GTPases, IMAP"""	21792	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 9"""					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.1762C>T	7.37:g.150174632C>T	ENSP00000305107:p.Arg588Trp						p.R588W	NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)	5	2092	+			588						Missense_Mutation	SNP	ENST00000307271.3	37	c.1762C>T	CCDS34777.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.126161	0.37533	.	.	ENSG00000171115	ENST00000307271	T	0.06218	3.33	4.44	-3.47	0.04753	AIG1 (1);	1.155170	0.06744	N	0.778825	T	0.14960	0.0361	L	0.59912	1.85	0.09310	N	1	D	0.61697	0.99	P	0.59889	0.865	T	0.34129	-0.9841	10	0.87932	D	0	.	8.3605	0.32357	0.3214:0.5892:0.0893:0.0	.	588	Q8ND71	GIMA8_HUMAN	W	588	ENSP00000305107:R588W	ENSP00000305107:R588W	R	+	1	2	GIMAP8	149805565	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.127000	0.03251	-0.338000	0.08413	-0.986000	0.02555	CGG		0.463	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1		NM_175571		61	86	0	0	0	0.01441	0	61	86		
SLC4A2	6522	broad.mit.edu	37	7	150767332	150767332	+	Silent	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr7:150767332C>T	ENST00000485713.1	+	10	2388	c.1348C>T	c.(1348-1350)Ctg>Ttg	p.L450L	SLC4A2_ENST00000392826.2_Silent_p.L441L|SLC4A2_ENST00000413384.2_Silent_p.L450L|SLC4A2_ENST00000461735.1_Silent_p.L436L|SLC4A2_ENST00000310317.5_Silent_p.L368L	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	450				LLGHHHGQGAESDPHVTEPLMGGVPE -> CWGITMVRGLR VTPTSPSLSWEVFLR (in Ref. 7; CAA27556). {ECO:0000305}.	anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTGGGCTCCCTGCTGGGGCA	0.642																																						uc003wit.3		NaN																	0					0						c.(1348-1350)CTG>TTG		solute carrier family 4, anion exchanger, member							70.0	71.0	71.0					7																	150767332		2203	4300	6503	SO:0001819	synonymous_variant	6522				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	g.chr7:150767332C>T		CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"""Solute carriers"""	11028	protein-coding gene	gene with protein product	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	109280	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.1348C>T	7.37:g.150767332C>T						SLC4A2_uc011kve.1_Silent_p.L441L|SLC4A2_uc003wiu.3_Silent_p.L436L|SLC4A2_uc003wiv.3_5'Flank	p.L450L	NM_003040	NP_003031	P04920	B3A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	10	1604	+			450	LLGHHHGQGAESDPHVTEPLMGGVPE -> CWGITMVRGLR VTPTSPSLSWEVFLR (in Ref. 6; CAA27556).		Cytoplasmic (Potential).		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Silent	SNP	ENST00000485713.1	37	c.1348C>T	CCDS5917.1																																																																																				0.642	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1		NM_003040		46	72	0	0	0	0.01441	0	46	72		
GALNT11	63917	broad.mit.edu	37	7	151791435	151791435	+	Silent	SNP	C	C	T	rs138436495	byFrequency	TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr7:151791435C>T	ENST00000434507.1	+	4	560	c.123C>T	c.(121-123)ccC>ccT	p.P41P	GALNT11_ENST00000422997.2_Silent_p.P41P|GALNT11_ENST00000482812.1_3'UTR|GALNT11_ENST00000452146.2_Intron|GALNT11_ENST00000415421.1_Silent_p.P41P|GALNT11_ENST00000430044.2_Silent_p.P41P|GALNT11_ENST00000320311.2_Silent_p.P41P			Q8NCW6	GLT11_HUMAN	polypeptide N-acetylgalactosaminyltransferase 11	41					cellular protein metabolic process (GO:0044267)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via threonine (GO:0018243)|regulation of Notch signaling pathway (GO:0008593)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|Notch binding (GO:0005112)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		AGAATGTGCCCGTCAAGGGGT	0.473													C|||	4	0.000798722	0.0	0.0029	5008	,	,		16967	0.0		0.002	False		,,,				2504	0.0					uc010lqg.1		NaN																	0					0						c.(121-123)CCC>CCT		N-acetylgalactosaminyltransferase 11		C		4,4402	8.1+/-20.4	0,4,2199	138.0	141.0	140.0		123	5.7	1.0	7	dbSNP_134	140	23,8577	16.6+/-54.9	0,23,4277	no	coding-synonymous	GALNT11	NM_022087.2		0,27,6476	TT,TC,CC		0.2674,0.0908,0.2076		41/609	151791435	27,12979	2203	4300	6503	SO:0001819	synonymous_variant	63917					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:151791435C>T	AC006017	CCDS5930.1	7q36.1	2014-05-09	2014-05-09		ENSG00000178234	ENSG00000178234	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19875	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 11"""	615130	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)"""			11925450	Standard	NM_022087		Approved	GalNAc-T11	uc010lqg.1	Q8NCW6	OTTHUMG00000157251	ENST00000434507.1:c.123C>T	7.37:g.151791435C>T						GALNT11_uc011kvm.1_Intron|GALNT11_uc003wku.2_Silent_p.P41P|GALNT11_uc003wkv.1_Silent_p.P41P|GALNT11_uc011kvn.1_RNA	p.P41P	NM_022087	NP_071370	Q8NCW6	GLT11_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)	2	353	+	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	41			Lumenal (Potential).		B3KWF4|Q6PCD1|Q9H6C2|Q9H6Z5|Q9UDR8	Silent	SNP	ENST00000434507.1	37	c.123C>T	CCDS5930.1																																																																																				0.473	GALNT11-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348184.1		NM_022087		12	284	0	0	0	0.013537	0	12	284		
BMP1	649	broad.mit.edu	37	8	22052270	22052270	+	Silent	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr8:22052270C>T	ENST00000306385.5	+	12	2147	c.1477C>T	c.(1477-1479)Ctg>Ttg	p.L493L	BMP1_ENST00000397816.3_Silent_p.L493L|BMP1_ENST00000306349.8_Silent_p.L493L|BMP1_ENST00000397814.3_Silent_p.L493L|BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	493	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CTACGACTATCTGGAGGTGCG	0.617																																						uc003xbg.2		NaN																	0				ovary(2)|breast(1)	3						c.(1477-1479)CTG>TTG		bone morphogenetic protein 1 isoform 3							47.0	48.0	48.0					8																	22052270		2203	4300	6503	SO:0001819	synonymous_variant	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22052270C>T		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.1477C>T	8.37:g.22052270C>T						BMP1_uc003xba.2_Silent_p.L493L|BMP1_uc003xbb.2_Silent_p.L493L|BMP1_uc003xbe.2_RNA|BMP1_uc003xbc.2_Silent_p.L242L|BMP1_uc003xbd.2_RNA|BMP1_uc003xbf.2_Silent_p.L242L|BMP1_uc011kzc.1_Silent_p.L242L|BMP1_uc003xbh.2_RNA|BMP1_uc003xbi.2_RNA	p.L493L	NM_006129	NP_006120	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	12	1721	+			493			CUB 2.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Silent	SNP	ENST00000306385.5	37	c.1477C>T	CCDS6026.1																																																																																				0.617	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2		NM_006132		31	52	0	0	0	0.003755	0	31	52		
DDHD2	23259	broad.mit.edu	37	8	38095721	38095721	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr8:38095721C>A	ENST00000397166.2	+	5	1141	c.616C>A	c.(616-618)Cat>Aat	p.H206N	DDHD2_ENST00000520272.2_Missense_Mutation_p.H206N	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	206					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			TGTTGACATTCATTGTGGTAA	0.418																																						uc003xlb.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(616-618)CAT>AAT		DDHD domain containing 2 isoform 1							245.0	220.0	228.0					8																	38095721		2203	4300	6503	SO:0001583	missense	23259				lipid catabolic process	centrosome	hydrolase activity|metal ion binding	g.chr8:38095721C>A	AK056525	CCDS34883.1	8p11.23	2014-03-03	2004-04-05	2004-04-07				"""Sterile alpha motif (SAM) domain containing"""	29106	protein-coding gene	gene with protein product		615003	"""SAM, WWE and DDHD domain containing 1"""	SAMWD1		9872452, 11788596, 19632984, 20932832	Standard	NM_015214		Approved	KIAA0725, SPG54	uc003xlc.3	O94830		ENST00000397166.2:c.616C>A	8.37:g.38095721C>A	ENSP00000380352:p.His206Asn					DDHD2_uc003xla.2_Missense_Mutation_p.H206N|DDHD2_uc003xlc.2_Missense_Mutation_p.H206N|DDHD2_uc011lbl.1_Intron	p.H206N	NM_015214	NP_056029	O94830	DDHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)		5	993	+	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	206					B3KWV2|B3KXB5|Q9H8X7	Missense_Mutation	SNP	ENST00000397166.2	37	c.616C>A	CCDS34883.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.698514	0.68386	.	.	ENSG00000085788	ENST00000397166;ENST00000532222;ENST00000520272	T;T;T	0.40756	1.02;1.54;1.02	5.76	5.76	0.90799	.	0.109460	0.64402	D	0.000007	T	0.25382	0.0617	N	0.08118	0	0.80722	D	1	B;B	0.28128	0.004;0.201	B;B	0.21708	0.002;0.036	T	0.09250	-1.0683	10	0.17369	T	0.5	-15.651	19.0207	0.92915	0.0:1.0:0.0:0.0	.	206;206	O94830;E9PKE6	DDHD2_HUMAN;.	N	206	ENSP00000380352:H206N;ENSP00000433578:H206N;ENSP00000429932:H206N	ENSP00000380352:H206N	H	+	1	0	DDHD2	38214878	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.345000	0.79337	2.732000	0.93576	0.558000	0.71614	CAT		0.418	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377251.2		XM_291291		32	63	1	0	3.03874e-20	0.003271	3.2992e-20	32	63		
EIF3E	3646	broad.mit.edu	37	8	109240615	109240615	+	Silent	SNP	C	C	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr8:109240615C>G	ENST00000220849.5	-	7	665	c.603G>C	c.(601-603)gtG>gtC	p.V201V	EIF3E_ENST00000519517.1_5'UTR|RP11-35G22.1_ENST00000520037.1_RNA|EIF3E_ENST00000519030.1_Silent_p.V108V	NM_001568.2	NP_001559.1			eukaryotic translation initiation factor 3, subunit E										EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			GTGGAGAACTCACAGACTAAA	0.333																																					GBM(15;360 410 8460 34179 52246)	uc003ymu.2		NaN																	0				ovary(2)|kidney(1)	3						c.(601-603)GTG>GTC		eukaryotic translation initiation factor 3,							60.0	60.0	60.0					8																	109240615		2203	4300	6503	SO:0001819	synonymous_variant	3646				negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|eukaryotic translation initiation factor 3 complex|PML body	protein N-terminus binding	g.chr8:109240615C>G	U94175	CCDS6308.1	8q22-q23	2010-03-10	2007-07-27	2007-07-27	ENSG00000104408	ENSG00000104408			3277	protein-coding gene	gene with protein product		602210	"""eukaryotic translation initiation factor 3, subunit 6 48kDa"""	INT6, EIF3S6		9403073, 9295280	Standard	NM_001568		Approved	eIF3-p48, eIF3e	uc003ymu.3	P60228	OTTHUMG00000164858	ENST00000220849.5:c.603G>C	8.37:g.109240615C>G						EIF3E_uc003ymt.2_Silent_p.V152V|EIF3E_uc003ymv.2_Silent_p.V108V|EIF3E_uc010mci.1_Silent_p.V201V	p.V201V	NM_001568	NP_001559	P60228	EIF3E_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)		7	631	-			201						Silent	SNP	ENST00000220849.5	37	c.603G>C	CCDS6308.1	.	.	.	.	.	.	.	.	.	.	C	8.935	0.964498	0.18583	.	.	ENSG00000104408	ENST00000522352	.	.	.	5.5	2.44	0.29823	.	.	.	.	.	T	0.58977	0.2160	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54543	-0.8278	4	.	.	.	-16.5988	9.9841	0.41830	0.0:0.3892:0.5247:0.0861	.	.	.	.	Q	25	.	.	E	-	1	0	EIF3E	109309791	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.576000	0.23744	0.789000	0.33779	0.585000	0.79938	GAG		0.333	EIF3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380612.2		NM_001568		37	75	0	0	0	0.004289	0	37	75		
OC90	729330	broad.mit.edu	37	8	133047065	133047065	+	Silent	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr8:133047065C>T	ENST00000443356.2	-	11	830	c.744G>A	c.(742-744)caG>caA	p.Q248Q	OC90_ENST00000603859.1_Silent_p.Q232Q|OC90_ENST00000262283.5_Silent_p.Q444Q|OC90_ENST00000254627.3_Silent_p.Q232Q			Q02509	OC90_HUMAN	otoconin 90	248					lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			CCACTCCTTCCTGATCGTGGC	0.567																																						uc003ytg.2		NaN																	0				ovary(2)|skin(1)	3						c.(694-696)CAG>CAA		otoconin 90							117.0	128.0	124.0					8																	133047065		2062	4199	6261	SO:0001819	synonymous_variant	729330				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	g.chr8:133047065C>T	Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.744G>A	8.37:g.133047065C>T						OC90_uc011lix.1_Silent_p.Q232Q	p.Q232Q	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)		9	696	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		248					B4DNG8	Silent	SNP	ENST00000443356.2	37	c.696G>A																																																																																					0.567	OC90-201	KNOWN	basic	protein_coding	protein_coding			NM_001080399		49	99	0	0	0	0.01441	0	49	99		
FRMPD1	22844	broad.mit.edu	37	9	37746352	37746352	+	Silent	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr9:37746352G>A	ENST00000539465.1	+	16	4916	c.4323G>A	c.(4321-4323)ggG>ggA	p.G1441G	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Silent_p.G1441G			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1441						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CTTCCTGGGGGGTTGGAAACA	0.572																																						uc004aag.1		NaN																	0				ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9						c.(4321-4323)GGG>GGA		FERM and PDZ domain containing 1							17.0	19.0	18.0					9																	37746352		2203	4300	6503	SO:0001819	synonymous_variant	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37746352G>A	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.4323G>A	9.37:g.37746352G>A						FRMPD1_uc004aah.1_Silent_p.G1441G	p.G1441G	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	16	4367	+			1441					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Silent	SNP	ENST00000539465.1	37	c.4323G>A	CCDS6612.1																																																																																				0.572	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1		NM_014907		10	19	0	0	0	0.006214	0	10	19		
CDC14B	8555	broad.mit.edu	37	9	99381613	99381613	+	Silent	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr9:99381613G>C	ENST00000375241.1	-	1	499	c.48C>G	c.(46-48)ccC>ccG	p.P16P	CDC14B_ENST00000375236.1_Silent_p.P16P|CDC14B_ENST00000375240.3_Silent_p.P16P|CDC14B_ENST00000463569.1_Silent_p.P16P|CDC14B_ENST00000265659.2_Silent_p.P16P	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	16					activation of anaphase-promoting complex activity (GO:0051488)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				GCCGCGAGCAGGGGGGCGCGG	0.761																																						uc004awj.2		NaN																	0				ovary(1)	1						c.(46-48)CCC>CCG		CDC14 homolog B isoform 2							5.0	6.0	6.0					9																	99381613		2062	4071	6133	SO:0001819	synonymous_variant	8555				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr9:99381613G>C	AF023158	CCDS6721.1, CCDS6722.1, CCDS43853.1	9q22.3	2013-01-17	2013-01-17		ENSG00000081377	ENSG00000081377		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1719	protein-coding gene	gene with protein product		603505	"""CDC14 (cell division cycle 14, S. cerevisiae) homolog B"", ""CDC14 cell division cycle 14 homolog B (S. cerevisiae)"""			9367992	Standard	NM_003671		Approved	Cdc14B1, Cdc14B2, CDC14B3, hCDC14B	uc004awj.3	O60729	OTTHUMG00000020300	ENST00000375241.1:c.48C>G	9.37:g.99381613G>C						CDC14B_uc004awk.2_Silent_p.P16P|CDC14B_uc004awl.2_RNA	p.P16P	NM_033331	NP_201588	O60729	CC14B_HUMAN			1	500	-		Acute lymphoblastic leukemia(62;0.0559)	16			Nucleolar localization signal (Probable).		A6N5X8|A8MQ20|B1AL31|B1AL32|O43183|O60730|Q5JU08	Silent	SNP	ENST00000375241.1	37	c.48C>G	CCDS6722.1																																																																																				0.761	CDC14B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053278.2		NM_033331		12	5	0	0	0	0.013537	0	12	5		
KIF12	113220	broad.mit.edu	37	9	116854869	116854869	+	Silent	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr9:116854869G>A	ENST00000374118.3	-	14	1473	c.1236C>T	c.(1234-1236)ccC>ccT	p.P412P	KIF12_ENST00000473174.1_5'Flank	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	545					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						GGGGTGCCCAGGGTGGGGGCC	0.652																																						uc004bif.2		NaN																	0					0						c.(1234-1236)CCC>CCT		kinesin family member 12							7.0	10.0	9.0					9																	116854869		2074	4155	6229	SO:0001819	synonymous_variant	113220				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:116854869G>A	BC010626	CCDS6801.1	9q33.1	2008-02-05			ENSG00000136883	ENSG00000136883		"""Kinesins"""	21495	protein-coding gene	gene with protein product		611278					Standard	NM_138424		Approved		uc004bif.3	Q96FN5	OTTHUMG00000020533	ENST00000374118.3:c.1236C>T	9.37:g.116854869G>A						KIF12_uc004big.2_RNA	p.P412P	NM_138424	NP_612433	Q96FN5	KIF12_HUMAN			14	1474	-			545			Pro-rich.		Q5TBE0	Silent	SNP	ENST00000374118.3	37	c.1236C>T	CCDS6801.1																																																																																				0.652	KIF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053751.1		NM_138424		11	5	0	0	0	0.013537	0	11	5		
RPGR	6103	broad.mit.edu	37	X	38135986	38135986	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chrX:38135986C>G	ENST00000339363.3	-	15	2727	c.2560G>C	c.(2560-2562)Gat>Cat	p.D854H	TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000309513.3_Missense_Mutation_p.D587H|RPGR_ENST00000338898.3_3'UTR|RPGR_ENST00000318842.7_Missense_Mutation_p.D649H			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	854	Glu-rich.				cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						TCATCCACATCTTCTAGTTTT	0.353																																						uc004deb.2		NaN																	0				ovary(1)	1						c.(1945-1947)GAT>CAT		retinitis pigmentosa GTPase regulator isoform A							169.0	139.0	149.0					X																	38135986		2201	4299	6500	SO:0001583	missense	6103				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding	g.chrX:38135986C>G	U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2560G>C	X.37:g.38135986C>G	ENSP00000343671:p.Asp854His					RPGR_uc004dea.2_RNA|RPGR_uc004dec.2_RNA	p.D649H	NM_000328	NP_000319	Q92834	RPGR_HUMAN			16	2113	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Missense_Mutation	SNP	ENST00000339363.3	37	c.1945G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.79|10.79	1.450552|1.450552	0.26074|0.26074	.|.	.|.	ENSG00000156313|ENSG00000156313	ENST00000339363;ENST00000309513;ENST00000318842|ENST00000494707	T;T;T|.	0.17691|.	2.26;3.63;3.63|.	4.51|4.51	1.71|1.71	0.24356|0.24356	.|.	.|.	.|.	.|.	.|.	T|T	0.33585|0.33585	0.0868|0.0868	L|L	0.38175|0.38175	1.15|1.15	0.09310|0.09310	N|N	1|1	D|.	0.59767|.	0.986|.	P|.	0.55999|.	0.789|.	T|T	0.23655|0.23655	-1.0182|-1.0182	9|5	0.46703|.	T|.	0.11|.	.|.	7.0326|7.0326	0.24975|0.24975	0.0:0.6796:0.0:0.3204|0.0:0.6796:0.0:0.3204	.|.	649|.	Q92834-2|.	.|.	H|T	854;587;649|60	ENSP00000343671:D854H;ENSP00000308783:D587H;ENSP00000322219:D649H|.	ENSP00000308783:D587H|.	D|R	-|-	1|2	0|0	RPGR|RPGR	38020930|38020930	0.050000|0.050000	0.20438|0.20438	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	1.115000|1.115000	0.31209|0.31209	0.108000|0.108000	0.17862|0.17862	-0.892000|-0.892000	0.02923|0.02923	GAT|AGA		0.353	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_000328		40	21	0	0	0	0.005524	0	40	21		
KDM6A	7403	broad.mit.edu	37	X	44966676	44966676	+	Silent	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chrX:44966676G>A	ENST00000377967.4	+	27	3941	c.3900G>A	c.(3898-3900)ctG>ctA	p.L1300L	KDM6A_ENST00000536777.1_Silent_p.L1255L|KDM6A_ENST00000382899.4_Silent_p.L1307L|KDM6A_ENST00000479423.1_3'UTR|KDM6A_ENST00000543216.1_Silent_p.L1221L	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1300					canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TAAGAACTCTGAAGCAATGTC	0.373			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	uc004dge.3		NaN		Rec	yes		X	Xp11.2	7403	D|N|F|S	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			renal|oesophageal SCC|MM		6	Whole gene deletion(6)		oesophagus(2)|breast(2)|pancreas(2)	kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						c.(3898-3900)CTG>CTA		ubiquitously transcribed tetratricopeptide							126.0	108.0	114.0					X																	44966676		2203	4300	6503	SO:0001819	synonymous_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44966676G>A	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.3900G>A	X.37:g.44966676G>A						KDM6A_uc011mkz.1_Silent_p.L1352L|KDM6A_uc011mla.1_Silent_p.L1255L|KDM6A_uc011mlb.1_Silent_p.L1307L|KDM6A_uc011mlc.1_Silent_p.L1004L|KDM6A_uc011mld.1_Silent_p.L939L	p.L1300L	NM_021140	NP_066963	O15550	KDM6A_HUMAN			27	4275	+			1300					Q52LL9|Q5JVQ7	Silent	SNP	ENST00000377967.4	37	c.3900G>A	CCDS14265.1	.	.	.	.	.	.	.	.	.	.	G	8.742	0.919261	0.17982	.	.	ENSG00000147050	ENST00000414389;ENST00000433797;ENST00000431196	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	T	0.70701	0.3254	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69555	-0.5114	4	.	.	.	-6.3404	14.3679	0.66817	0.0:0.1986:0.8014:0.0	.	.	.	.	K	898;943;60	.	.	E	+	1	0	KDM6A	44851620	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.849000	0.48286	2.374000	0.81015	0.594000	0.82650	GAA		0.373	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1		NM_021140		66	18	0	0	0	0.01441	0	66	18		
KDM6A	7403	broad.mit.edu	37	X	44969330	44969330	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chrX:44969330G>T	ENST00000377967.4	+	28	4053	c.4012G>T	c.(4012-4014)Gtt>Ttt	p.V1338F	KDM6A_ENST00000536777.1_Missense_Mutation_p.V1293F|KDM6A_ENST00000382899.4_Missense_Mutation_p.V1345F|KDM6A_ENST00000479423.1_3'UTR|KDM6A_ENST00000543216.1_Missense_Mutation_p.V1259F	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1338					canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						ACAGGTGGAGGTTTTTGATCT	0.338			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	uc004dge.3		NaN		Rec	yes		X	Xp11.2	7403	D|N|F|S	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			renal|oesophageal SCC|MM		6	Whole gene deletion(6)		oesophagus(2)|breast(2)|pancreas(2)	kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						c.(4012-4014)GTT>TTT		ubiquitously transcribed tetratricopeptide							83.0	76.0	78.0					X																	44969330		2203	4299	6502	SO:0001583	missense	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44969330G>T	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.4012G>T	X.37:g.44969330G>T	ENSP00000367203:p.Val1338Phe					KDM6A_uc011mkz.1_Missense_Mutation_p.V1390F|KDM6A_uc011mla.1_Missense_Mutation_p.V1293F|KDM6A_uc011mlb.1_Missense_Mutation_p.V1345F|KDM6A_uc011mlc.1_Missense_Mutation_p.V1042F|KDM6A_uc011mld.1_Missense_Mutation_p.V977F	p.V1338F	NM_021140	NP_066963	O15550	KDM6A_HUMAN			28	4387	+			1338					Q52LL9|Q5JVQ7	Missense_Mutation	SNP	ENST00000377967.4	37	c.4012G>T	CCDS14265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.1|26.1	4.702975|4.702975	0.88924|0.88924	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000414389;ENST00000433797;ENST00000431196|ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216	.|T;T;T;T	.|0.27402	.|1.7;1.67;1.69;1.68	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.61850|0.61850	0.2380|0.2380	M|M	0.82823|0.82823	2.61|2.61	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|0.998;0.999;1.0;0.999;1.0	.|D;D;D;D;D	.|0.91635	.|0.991;0.996;0.999;0.973;0.998	T|T	0.67142|0.67142	-0.5745|-0.5745	5|10	.|0.87932	.|D	.|0	-14.2841|-14.2841	18.8218|18.8218	0.92100|0.92100	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|977;1345;1293;1390;1338	.|B4E0L8;F8W8R6;F5H6S1;B7ZKN5;O15550	.|.;.;.;.;KDM6A_HUMAN	V|F	935;980;97|1035;1338;1293;1345;1259	.|ENSP00000367203:V1338F;ENSP00000437405:V1293F;ENSP00000372355:V1345F;ENSP00000443078:V1259F	.|ENSP00000334340:V1035F	G|V	+|+	2|1	0|0	KDM6A|KDM6A	44854274|44854274	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.471000|9.471000	0.97696|0.97696	2.391000|2.391000	0.81399|0.81399	0.600000|0.600000	0.82982|0.82982	GGT|GTT		0.338	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1		NM_021140		36	23	1	0	1.08052e-11	0.004289	1.13604e-11	36	23		
CCDC120	90060	broad.mit.edu	37	X	48925201	48925201	+	Silent	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chrX:48925201C>T	ENST00000376396.3	+	10	1665	c.1446C>T	c.(1444-1446)ctC>ctT	p.L482L	CCDC120_ENST00000496529.2_Silent_p.L482L|CCDC120_ENST00000422185.2_Silent_p.L482L|CCDC120_ENST00000597275.1_Silent_p.L482L|CCDC120_ENST00000603986.1_Silent_p.L517L|CCDC120_ENST00000536628.2_Silent_p.L470L	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	482	Pro-rich.									breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						ATGGGCTCCTCACCATGCTCC	0.711																																						uc010nik.2		NaN																	0				pancreas(1)	1						c.(1444-1446)CTC>CTT		coiled-coil domain containing 120 isoform 3							16.0	17.0	17.0					X																	48925201		2201	4291	6492	SO:0001819	synonymous_variant	90060						protein binding	g.chrX:48925201C>T	BC008769	CCDS14316.1, CCDS55413.1, CCDS55414.1, CCDS55414.2	Xp11.23	2008-02-05			ENSG00000147144	ENSG00000147144			28910	protein-coding gene	gene with protein product						12477932	Standard	NM_033626		Approved	JM11	uc011mmr.3	Q96HB5	OTTHUMG00000021509	ENST00000376396.3:c.1446C>T	X.37:g.48925201C>T						CCDC120_uc011mmq.1_Silent_p.L470L|CCDC120_uc004dmf.2_Silent_p.L482L|CCDC120_uc010nil.2_Silent_p.L482L|CCDC120_uc011mmr.1_Silent_p.L482L|CCDC120_uc011mms.1_Silent_p.L470L	p.L482L	NM_033626	NP_296375	Q96HB5	CC120_HUMAN			10	1953	+			482			Pro-rich.		B4DFC1|B4DTU2|F5GZU4	Silent	SNP	ENST00000376396.3	37	c.1446C>T	CCDS14316.1																																																																																				0.711	CCDC120-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056528.1		NM_033626		21	9	0	0	0	0.00278	0	21	9		
MED12	9968	broad.mit.edu	37	X	70351453	70351453	+	Silent	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chrX:70351453C>T	ENST00000374080.3	+	29	4133	c.4101C>T	c.(4099-4101)atC>atT	p.I1367I	MED12_ENST00000333646.6_Silent_p.I1367I|MED12_ENST00000374102.1_Silent_p.I1367I			Q93074	MED12_HUMAN	mediator complex subunit 12	1367					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					AGCTCATGATCAAGCAGACCC	0.562			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															uc004dyy.2		NaN		Dom	yes		X	Xq13	9968		mediator complex subunit 12	Yes		M					0				ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(4099-4101)ATC>ATT		mediator complex subunit 12							141.0	131.0	135.0					X																	70351453		2092	4201	6293	SO:0001819	synonymous_variant	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70351453C>T	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.4101C>T	X.37:g.70351453C>T						MED12_uc011mpq.1_Silent_p.I1367I|MED12_uc004dyz.2_Silent_p.I1367I|MED12_uc004dza.2_Silent_p.I1214I|MED12_uc010nla.2_5'UTR	p.I1367I	NM_005120	NP_005111	Q93074	MED12_HUMAN			29	4300	+	Renal(35;0.156)		1367					O15410|O75557|Q9UHV6|Q9UND7	Silent	SNP	ENST00000374080.3	37	c.4101C>T	CCDS43970.1																																																																																				0.562	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1		NM_005120		27	11	0	0	0	0.010818	0	27	11		
RLIM	51132	broad.mit.edu	37	X	73812256	73812256	+	Silent	SNP	T	T	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chrX:73812256T>C	ENST00000332687.6	-	4	1112	c.894A>G	c.(892-894)gcA>gcG	p.A298A	RLIM_ENST00000349225.2_Silent_p.A298A	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	298					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTGAAGAACCTGCTCCTTGAG	0.488																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	uc004ebu.2		NaN																	0				ovary(2)	2						c.(892-894)GCA>GCG		ring finger protein, LIM domain interacting							60.0	52.0	55.0					X																	73812256		2203	4300	6503	SO:0001819	synonymous_variant	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73812256T>C	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.894A>G	X.37:g.73812256T>C						RLIM_uc004ebw.2_Silent_p.A298A	p.A298A	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN			5	1184	-			298					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	ENST00000332687.6	37	c.894A>G	CCDS14427.1																																																																																				0.488	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1		NM_016120		34	15	0	0	0	0.003755	0	34	15		
ATP1A1	476	broad.mit.edu	37	1	116932977	116932977	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr1:116932977delC	ENST00000295598.5	+	9	1418	c.1166delC	c.(1165-1167)gccfs	p.A389fs	ATP1A1_ENST00000369496.4_Frame_Shift_Del_p.A358fs|ATP1A1_ENST00000537345.1_Frame_Shift_Del_p.A389fs	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	389					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	ATGACAGTGGCCCACATGTGG	0.502																																						uc001ege.2		NaN																	0				ovary(1)	1						c.(1165-1167)GCCfs		Na+/K+ -ATPase alpha 1 subunit isoform a	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)						78.0	71.0	73.0					1																	116932977		2203	4300	6503	SO:0001589	frameshift_variant	476				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity	g.chr1:116932977delC	D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"""ATPases / P-type"""	799	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-1"", ""sodium pump subunit alpha-1"", ""sodium-potassium ATPase catalytic subunit alpha-1"""	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.1166delC	1.37:g.116932977delC	ENSP00000295598:p.Ala389fs					ATP1A1_uc010owv.1_Frame_Shift_Del_p.A358fs|ATP1A1_uc010oww.1_Frame_Shift_Del_p.A389fs|ATP1A1_uc010owx.1_Frame_Shift_Del_p.A358fs	p.A389fs	NM_000701	NP_000692	P05023	AT1A1_HUMAN		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	9	1505	+	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)	389			Cytoplasmic (Potential).		B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Frame_Shift_Del	DEL	ENST00000295598.5	37	c.1166delC	CCDS887.1																																																																																				0.502	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033481.5		NM_001160233		23	46	NaN	NaN	NaN	NaN	NaN	23	46	---	---
PDCD11	22984	broad.mit.edu	37	10	105169473	105169474	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr10:105169473_105169474insA	ENST00000369797.3	+	8	982_983	c.888_889insA	c.(889-891)acgfs	p.T297fs		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	297	S1 motif 3. {ECO:0000255|PROSITE- ProRule:PRU00180}.				mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CATTTGGCCTTACGCTAAACTT	0.391																																						uc001kwy.1		NaN																	0				ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7						c.(886-891)CTTACGfs		programmed cell death 11																																				SO:0001589	frameshift_variant	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105169473_105169474insA	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.889dupA	10.37:g.105169474_105169474dupA	ENSP00000358812:p.Thr297fs						p.L296fs	NM_014976	NP_055791	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	8	975_976	+		Colorectal(252;0.0747)|Breast(234;0.128)	296_297			S1 motif 3.		Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Frame_Shift_Ins	INS	ENST00000369797.3	37	c.888_889insA	CCDS31276.1																																																																																				0.391	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1				51	95	NaN	NaN	NaN	NaN	NaN	51	95	---	---
WIF1	11197	broad.mit.edu	37	12	65445160	65445169	+	Frame_Shift_Del	DEL	CGCCGCTCCT	CGCCGCTCCT	-	rs375021895|rs145628728|rs115691862|rs138241385	byFrequency	TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr12:65445160_65445169delCGCCGCTCCT	ENST00000286574.4	-	10	1474_1483	c.1100_1109delAGGAGCGGCG	c.(1099-1110)gaggagcggcggfs	p.EERR367fs		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	367					multicellular organismal development (GO:0007275)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		AGGTGGATCCCGCCGCTCCTCGGCCTTTTT	0.495			T	HMGA2	pleomorphic salivary gland adenoma																																Esophageal Squamous(148;1595 1816 48559 49439 49664)	uc001ssk.2		NaN		Dom	yes		12	12q14.3	11197	T	WNT inhibitory factor 1			E	HMGA2		pleomorphic salivary gland adenoma		0				ovary(2)|lung(1)|skin(1)	4						c.(1099-1110)GAGGAGCGGCGGfs		WNT inhibitory factor 1 precursor																																				SO:0001589	frameshift_variant	11197				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity	g.chr12:65445160_65445169delCGCCGCTCCT	AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076			18081	protein-coding gene	gene with protein product		605186				10201374	Standard	NM_007191		Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.1100_1109delAGGAGCGGCG	12.37:g.65445160_65445169delCGCCGCTCCT	ENSP00000286574:p.Glu367fs						p.E367fs	NM_007191	NP_009122	Q9Y5W5	WIF1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)	10	1245_1254	-			367_370					Q6UXI1|Q8WVG4	Frame_Shift_Del	DEL	ENST00000286574.4	37	c.1100_1109delAGGAGCGGCG	CCDS8971.1																																																																																				0.495	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401258.2				24	132	NaN	NaN	NaN	NaN	NaN	24	132	---	---
ATR	545	broad.mit.edu	37	3	142274739	142274740	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr3:142274739_142274740insT	ENST00000350721.4	-	10	2441_2442	c.2320_2321insA	c.(2320-2322)atafs	p.I774fs	ATR_ENST00000383101.3_Frame_Shift_Ins_p.I710fs	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	774					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.I774fs*5(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TGGACTAGGTATTTTTTTTTTC	0.332								Other conserved DNA damage response genes																														uc003eux.3		NaN																	1	Deletion - Frameshift(1)		breast(1)	lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						c.(2320-2322)ATAfs	Other_conserved_DNA_damage_response_genes	ataxia telangiectasia and Rad3 related protein																																				SO:0001589	frameshift_variant	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142274739_142274740insT	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.2321dupA	3.37:g.142274749_142274749dupT	ENSP00000343741:p.Ile774fs						p.I774fs	NM_001184	NP_001175	Q13535	ATR_HUMAN			10	2442_2443	-			774					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Frame_Shift_Ins	INS	ENST00000350721.4	37	c.2320_2321insA	CCDS3124.1																																																																																				0.332	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2		NM_001184		8	189	NaN	NaN	NaN	NaN	NaN	8	189	---	---
CRIPAK	285464	broad.mit.edu	37	4	1388441	1388442	+	Frame_Shift_Ins	INS	-	-	CG	rs144787346		TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr4:1388441_1388442insCG	ENST00000324803.4	+	1	3102_3103	c.142_143insCG	c.(142-144)atgfs	p.M48fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	48					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CTGCTCACACATGCCCATGTGG	0.644																																						uc003gdf.2		NaN																	0					0						c.(142-144)ATGfs		cysteine-rich PAK1 inhibitor																																				SO:0001589	frameshift_variant	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1388441_1388442insCG	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	Exception_encountered	4.37:g.1388441_1388442insCG	ENSP00000323978:p.Met48fs						p.M48fs	NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	3102_3103	+			48			1.		Q8NB03	Frame_Shift_Ins	INS	ENST00000324803.4	37	c.142_143insCG	CCDS3349.1																																																																																				0.644	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2		NM_175918		7	689	NaN	NaN	NaN	NaN	NaN	7	689	---	---
CLDN23	137075	broad.mit.edu	37	8	8560467	8560467	+	Frame_Shift_Del	DEL	G	G	-	rs369967730		TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr8:8560467delG	ENST00000519106.1	+	1	1020	c.559delG	c.(559-561)gagfs	p.E187fs		NM_194284.2	NP_919260.2	Q96B33	CLD23_HUMAN	claudin 23	187					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(2)	2		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)		CTGGTGCGACGAGCGTTGTCG	0.731																																						uc003wsi.2		NaN																	0					0						c.(559-561)GAGfs		claudin 23							4.0	6.0	6.0					8																	8560467		1982	4046	6028	SO:0001589	frameshift_variant	137075				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr8:8560467delG	AK123547	CCDS55195.1	8p23.1	2006-04-12				ENSG00000253958		"""Claudins"""	17591	protein-coding gene	gene with protein product		609203				12736707	Standard	NM_194284		Approved	CLDNL	uc003wsi.3	Q96B33		ENST00000519106.1:c.559delG	8.37:g.8560467delG	ENSP00000428780:p.Glu187fs						p.E187fs	NM_194284	NP_919260	Q96B33	CLD23_HUMAN		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)	1	802	+		Hepatocellular(245;0.217)	187			Cytoplasmic (Potential).		Q08AJ3	Frame_Shift_Del	DEL	ENST00000519106.1	37	c.559delG	CCDS55195.1																																																																																				0.731	CLDN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374721.1		NM_194284		9	6	NaN	NaN	NaN	NaN	NaN	9	6	---	---
