#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
NADK	65220	broad.mit.edu	37	1	1688005	1688005	+	Missense_Mutation	SNP	G	G	A	rs147892956		TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr1:1688005G>A	ENST00000341426.5	-	5	657	c.436C>T	c.(436-438)Cct>Tct	p.P146S	NADK_ENST00000492768.1_5'Flank|NADK_ENST00000378625.1_Missense_Mutation_p.P291S|NADK_ENST00000342348.5_Missense_Mutation_p.P114S|NADK_ENST00000341991.3_Missense_Mutation_p.P146S|NADK_ENST00000344463.4_Missense_Mutation_p.P291S	NM_023018.4	NP_075394.3	O95544	NADK_HUMAN	NAD kinase	146					ATP metabolic process (GO:0046034)|NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		GCGATGGCAGGGTCTTCTAGC	0.527																																						ENST00000344463.4																			0				NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17						c.(871-873)Cct>Tct		NAD kinase		G	SER/PRO,SER/PRO,SER/PRO,SER/PRO	0,4406		0,0,2203	145.0	122.0	130.0		436,871,340,436	5.8	1.0	1	dbSNP_134	130	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense,missense	NADK	NM_001198993.1,NM_001198994.1,NM_001198995.1,NM_023018.4	74,74,74,74	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign,benign,benign,benign	146/447,291/592,114/415,146/447	1688005	3,13003	2203	4300	6503	SO:0001583	missense	65220				ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding	g.chr1:1688005G>A	BC001709	CCDS30565.1, CCDS55561.1, CCDS55562.1	1p36.33	2013-04-29			ENSG00000008130	ENSG00000008130	2.7.1.23		29831	protein-coding gene	gene with protein product		611616				11594753	Standard	NM_023018		Approved	FLJ13052	uc001aie.3	O95544	OTTHUMG00000000942	ENST00000341426.5:c.436C>T	1.37:g.1688005G>A	ENSP00000341679:p.Pro146Ser		Somatic				NADK_ENST00000341991.3_Missense_Mutation_p.P146S|NADK_ENST00000341426.5_Missense_Mutation_p.P146S|NADK_ENST00000378625.1_Missense_Mutation_p.P291S|NADK_ENST00000342348.5_Missense_Mutation_p.P114S	p.P291S			WXS	Illumina GAIIx	Phase_I	O95544	NADK_HUMAN		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)	7	1092	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	146					A6NNN3|A8K296|B7Z434|F5GXR5|Q5QPS4|Q9H2P2|Q9H931	Missense_Mutation	SNP	ENST00000341426.5	37	c.871C>T	CCDS30565.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.463212	0.63513	0.0	3.49E-4	ENSG00000008130	ENST00000341426;ENST00000341991;ENST00000378625;ENST00000344463;ENST00000342348;ENST00000400922	T;T;T;T;T;T	0.40476	1.06;1.06;1.03;1.03;1.06;1.06	5.77	5.77	0.91146	ATP-NAD kinase, PpnK-type, alpha/beta (1);ATP-NAD kinase, PpnK-type (1);	0.052436	0.85682	D	0.000000	T	0.51907	0.1702	M	0.68317	2.08	0.80722	D	1	B;B;P;P	0.42123	0.371;0.417;0.771;0.624	B;P;P;B	0.48334	0.142;0.475;0.574;0.3	T	0.38023	-0.9680	10	0.15499	T	0.54	-14.0529	18.5425	0.91033	0.0:0.0:1.0:0.0	.	114;291;291;146	F5GXR5;Q9H2P2;Q5QPS4;O95544	.;.;.;NADK_HUMAN	S	146;146;291;291;114;114	ENSP00000341679:P146S;ENSP00000344340:P146S;ENSP00000367890:P291S;ENSP00000340925:P291S;ENSP00000339727:P114S;ENSP00000383713:P114S	ENSP00000341679:P146S	P	-	1	0	NADK	1677865	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	6.235000	0.72332	2.733000	0.93635	0.561000	0.74099	CCT		0.527	NADK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002769.1	NM_023018		3	31	3	31	---	---	---	---
PADI3	51702	broad.mit.edu	37	1	17599873	17599873	+	Missense_Mutation	SNP	G	G	C			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr1:17599873G>C	ENST00000375460.3	+	10	1126	c.1086G>C	c.(1084-1086)aaG>aaC	p.K362N		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	362					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CGCCGCACAAGACCCTCCCGG	0.602																																						ENST00000375460.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1084-1086)aaG>aaC		peptidyl arginine deiminase, type III	L-Citrulline(DB00155)						59.0	59.0	59.0					1																	17599873		2203	4300	6503	SO:0001583	missense	51702				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17599873G>C	AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"""Peptidyl arginine deiminases"""	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.1086G>C	1.37:g.17599873G>C	ENSP00000364609:p.Lys362Asn		Somatic					p.K362N	NM_016233.2	NP_057317.2	WXS	Illumina GAIIx	Phase_I	Q9ULW8	PADI3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	10	1126	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	362					Q58EY7|Q70SX5	Missense_Mutation	SNP	ENST00000375460.3	37	c.1086G>C	CCDS179.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.312378	0.60414	.	.	ENSG00000142619	ENST00000375460	T	0.32988	1.43	5.31	3.45	0.39498	Protein-arginine deiminase, C-terminal (1);	0.062085	0.64402	D	0.000004	T	0.47637	0.1456	M	0.89785	3.06	0.37217	D	0.905057	P	0.48589	0.912	P	0.49192	0.602	T	0.59279	-0.7484	10	0.66056	D	0.02	-39.0138	9.0676	0.36473	0.2398:0.0:0.7602:0.0	.	362	Q9ULW8	PADI3_HUMAN	N	362	ENSP00000364609:K362N	ENSP00000364609:K362N	K	+	3	2	PADI3	17472460	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	0.541000	0.23207	0.624000	0.30286	0.511000	0.50034	AAG		0.602	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1			8	25	8	25	---	---	---	---
SLC44A5	204962	broad.mit.edu	37	1	75805314	75805314	+	Splice_Site	SNP	A	A	G			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr1:75805314A>G	ENST00000370855.5	-	4	167	c.54T>C	c.(52-54)ggT>ggC	p.G18G	SLC44A5_ENST00000535611.1_5'UTR|SLC44A5_ENST00000469525.1_5'UTR|SLC44A5_ENST00000370859.3_Splice_Site_p.G18G	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	18					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TCCTTGGATCACCTGCATTTA	0.323																																						ENST00000370855.5																			0				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(52-54)ggT>ggC		solute carrier family 44, member 5							176.0	192.0	187.0					1																	75805314		2203	4300	6503	SO:0001630	splice_region_variant	204962					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:75805314A>G	BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"""Solute carriers"""	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.53-1T>C	1.37:g.75805314A>G			Somatic				SLC44A5_ENST00000370859.3_Splice_Site_p.G18G|SLC44A5_ENST00000535611.1_5'UTR|SLC44A5_ENST00000469525.1_5'UTR	p.G18G	NM_152697.4	NP_689910.2	WXS	Illumina GAIIx	Phase_I	Q8NCS7	CTL5_HUMAN			4	167	-			18					B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Splice_Site	SNP	ENST00000370855.5	37	c.54T>C	CCDS667.1																																																																																				0.323	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697	Silent	42	156	42	156	---	---	---	---
LRRTM1	347730	broad.mit.edu	37	2	80530543	80530543	+	Silent	SNP	C	C	T			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr2:80530543C>T	ENST00000295057.3	-	2	1058	c.402G>A	c.(400-402)cgG>cgA	p.R134R	CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000466387.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.R134R|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000541047.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	134					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						TGGGCATGGGCCGGAAGGTGG	0.622										HNSCC(69;0.2)																												ENST00000295057.3																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						c.(400-402)cgG>cgA		leucine rich repeat transmembrane neuronal 1							170.0	172.0	171.0					2																	80530543		2203	4300	6503	SO:0001819	synonymous_variant	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80530543C>T	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.402G>A	2.37:g.80530543C>T		HNSCC(69;0.2)	Somatic				CTNNA2_ENST00000541047.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.R134R|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000466387.1_Intron	p.R134R	NM_178839.4	NP_849161.2	WXS	Illumina GAIIx	Phase_I	Q86UE6	LRRT1_HUMAN			2	1058	-			134					A8K397|D6W5K1|Q96DN1	Silent	SNP	ENST00000295057.3	37	c.402G>A	CCDS1966.1																																																																																				0.622	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		40	58	40	58	---	---	---	---
ZEB2	9839	broad.mit.edu	37	2	145156431	145156431	+	Silent	SNP	A	A	G			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr2:145156431A>G	ENST00000558170.2	-	8	3507	c.2323T>C	c.(2323-2325)Ttg>Ctg	p.L775L	ZEB2_ENST00000303660.4_Silent_p.L775L|ZEB2_ENST00000539609.3_Silent_p.L751L|ZEB2_ENST00000409487.3_Silent_p.L775L	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	775					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GAGTGGTCCAATTTTTCAACT	0.403																																					Melanoma(33;1235 1264 5755 16332)	ENST00000558170.2																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107						c.(2323-2325)Ttg>Ctg		zinc finger E-box binding homeobox 2							160.0	170.0	167.0					2																	145156431		2203	4299	6502	SO:0001819	synonymous_variant	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145156431A>G	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.2323T>C	2.37:g.145156431A>G			Somatic				ZEB2_ENST00000409487.3_Silent_p.L775L|ZEB2_ENST00000303660.4_Silent_p.L775L|ZEB2_ENST00000539609.3_Silent_p.L751L	p.L775L	NM_014795.3	NP_055610.1	WXS	Illumina GAIIx	Phase_I	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	8	3507	-			775					A0JP09|B7Z2P2|F5H814|Q9UED1	Silent	SNP	ENST00000558170.2	37	c.2323T>C	CCDS2186.1																																																																																				0.403	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		46	154	46	154	---	---	---	---
C2orf80	389073	broad.mit.edu	37	2	209036736	209036736	+	Missense_Mutation	SNP	C	C	A			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr2:209036736C>A	ENST00000341287.4	-	7	625	c.430G>T	c.(430-432)Gca>Tca	p.A144S	C2orf80_ENST00000451346.1_Missense_Mutation_p.A125S|C2orf80_ENST00000453017.1_Intron	NM_001099334.2	NP_001092804	Q0P641	CB080_HUMAN	chromosome 2 open reading frame 80	144										endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						TATGCTGCTGCTTTGGGTGCT	0.463																																						ENST00000341287.4																			0				endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						c.(430-432)Gca>Tca		chromosome 2 open reading frame 80							239.0	242.0	241.0					2																	209036736		1954	4150	6104	SO:0001583	missense	389073							g.chr2:209036736C>A	AC016697, AW136505, BC035737	CCDS42809.1	2q33.3	2013-10-31			ENSG00000188674	ENSG00000188674			34352	protein-coding gene	gene with protein product	"""gonad development associated 1"""	615536				22080834, 24055526	Standard	NM_001099334		Approved	LOC389073, GONDA1	uc002vcr.3	Q0P641	OTTHUMG00000154751	ENST00000341287.4:c.430G>T	2.37:g.209036736C>A	ENSP00000343171:p.Ala144Ser		Somatic				C2orf80_ENST00000451346.1_Missense_Mutation_p.A125S|C2orf80_ENST00000453017.1_Intron	p.A144S	NM_001099334.2	NP_001092804	WXS	Illumina GAIIx	Phase_I	Q0P641	CB080_HUMAN			7	625	-			144					A6NKZ3	Missense_Mutation	SNP	ENST00000341287.4	37	c.430G>T	CCDS42809.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.31|18.31	3.596327|3.596327	0.66332|0.66332	.|.	.|.	ENSG00000188674|ENSG00000188674	ENST00000451342;ENST00000341287;ENST00000451346;ENST00000423952|ENST00000428015	T;T;T;T|.	0.49432|.	0.88;1.38;1.27;0.78|.	5.25|5.25	5.25|5.25	0.73442|0.73442	.|.	0.000000|.	0.53938|.	D|.	0.000054|.	T|T	0.57651|0.57651	0.2068|0.2068	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|T	0.50499|0.50499	-0.8821|-0.8821	10|5	0.87932|.	D|.	0|.	-18.1825|-18.1825	16.2046|16.2046	0.82114|0.82114	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	144|.	Q0P641|.	CB080_HUMAN|.	S|I	69;144;125;57|95	ENSP00000389385:A69S;ENSP00000343171:A144S;ENSP00000405393:A125S;ENSP00000413016:A57S|.	ENSP00000343171:A144S|.	A|S	-|-	1|2	0|0	C2orf80|C2orf80	208744981|208744981	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.243000|0.243000	0.25628|0.25628	4.558000|4.558000	0.60789|0.60789	2.885000|2.885000	0.99019|0.99019	0.650000|0.650000	0.86243|0.86243	GCA|AGC		0.463	C2orf80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336931.1	NM_001099334		55	154	55	154	---	---	---	---
GNAI2	2771	broad.mit.edu	37	3	50289913	50289913	+	Missense_Mutation	SNP	G	G	C			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr3:50289913G>C	ENST00000313601.6	+	3	630	c.246G>C	c.(244-246)atG>atC	p.M82I	GNAI2_ENST00000536647.1_Start_Codon_SNP_p.M1I|GNAI2_ENST00000422163.1_Missense_Mutation_p.M66I|GNAI2_ENST00000451956.1_Missense_Mutation_p.M45I|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000440628.1_Missense_Mutation_p.M30I|GNAI2_ENST00000266027.5_Missense_Mutation_p.M66I	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	82					activation of MAPKK activity (GO:0000186)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of synaptic transmission (GO:0050805)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|regulation of calcium ion transport (GO:0051924)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		AGTCCATCATGGCCATTGTCA	0.597																																						ENST00000313601.6																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16						c.(244-246)atG>atC		guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2							75.0	65.0	68.0					3																	50289913		2203	4300	6503	SO:0001583	missense	2771				adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr3:50289913G>C	X04828	CCDS2813.1, CCDS54587.1, CCDS63642.1, CCDS63644.1	3p21.31	2010-08-27			ENSG00000114353	ENSG00000114353			4385	protein-coding gene	gene with protein product	"""GTP-binding regulatory protein Gi alpha-2 chain"""	139360		GNAI2B		3100330, 1733849	Standard	NM_001166425		Approved	GIP	uc003cyq.1	P04899	OTTHUMG00000156940	ENST00000313601.6:c.246G>C	3.37:g.50289913G>C	ENSP00000312999:p.Met82Ile		Somatic				GNAI2_ENST00000422163.1_Missense_Mutation_p.M66I|GNAI2_ENST00000451956.1_Missense_Mutation_p.M45I|GNAI2_ENST00000266027.5_Missense_Mutation_p.M66I|GNAI2_ENST00000536647.1_Start_Codon_SNP_p.M1I|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000440628.1_Missense_Mutation_p.M30I	p.M82I	NM_002070.2	NP_002061.1	WXS	Illumina GAIIx	Phase_I	P04899	GNAI2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)	3	630	+			82					B3KTZ0|B4DYA0|B4E2X5|Q6B6N3|Q8IZ71	Missense_Mutation	SNP	ENST00000313601.6	37	c.246G>C	CCDS2813.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.652533	0.29336	.	.	ENSG00000114353	ENST00000422163;ENST00000313601;ENST00000536647;ENST00000540560;ENST00000440628;ENST00000451956;ENST00000266027	D;D;D;D;D;D	0.87809	-2.3;-2.3;-1.73;-2.3;-2.3;-2.3	5.1	5.1	0.69264	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	T	0.72676	0.3490	N	0.05441	-0.05	0.52099	D	0.999947	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.09377	0.002;0.002;0.004;0.002	T	0.68096	-0.5499	10	0.02654	T	1	.	16.8172	0.85737	0.0:0.0:1.0:0.0	.	45;82;66;66	B4DYA0;P04899;B3KTZ0;P04899-2	.;GNAI2_HUMAN;.;.	I	66;82;1;82;30;45;66	ENSP00000406871:M66I;ENSP00000312999:M82I;ENSP00000444360:M1I;ENSP00000395736:M30I;ENSP00000406369:M45I;ENSP00000266027:M66I	ENSP00000266027:M66I	M	+	3	0	GNAI2	50264917	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.640000	0.74319	2.757000	0.94681	0.655000	0.94253	ATG		0.597	GNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346688.1	NM_002070		19	32	19	32	---	---	---	---
NNT	23530	broad.mit.edu	37	5	43624173	43624173	+	Missense_Mutation	SNP	G	G	A	rs548915718		TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr5:43624173G>A	ENST00000264663.5	+	6	948	c.727G>A	c.(727-729)Gca>Aca	p.A243T	NNT_ENST00000344920.4_Missense_Mutation_p.A243T|NNT_ENST00000512996.2_Missense_Mutation_p.A112T	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	243					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)					GCTTGCTTCTGCAGGCGCAGC	0.413																																						ENST00000264663.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(727-729)Gca>Aca		nicotinamide nucleotide transhydrogenase	NADH(DB00157)						342.0	314.0	324.0					5																	43624173		2203	4300	6503	SO:0001583	missense	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43624173G>A	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.727G>A	5.37:g.43624173G>A	ENSP00000264663:p.Ala243Thr		Somatic				NNT_ENST00000512996.2_Missense_Mutation_p.A112T|NNT_ENST00000344920.4_Missense_Mutation_p.A243T	p.A243T	NM_012343.3	NP_036475.3	WXS	Illumina GAIIx	Phase_I	Q13423	NNTM_HUMAN			6	948	+	Lung NSC(6;2.58e-06)		243					Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	37	c.727G>A	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	G	36	5.667540	0.96745	.	.	ENSG00000112992	ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.91011	-2.77;-2.77;-2.77	5.89	5.89	0.94794	Alanine dehydrogenase/pyridine nucleotide transhydrogenase, conserved site-2 (1);Alanine dehydrogenase/PNT, C-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.92466	0.7608	M	0.72624	2.21	0.80722	D	1	P	0.38863	0.65	B	0.43701	0.428	D	0.92487	0.5997	10	0.87932	D	0	-14.2183	20.2566	0.98424	0.0:0.0:1.0:0.0	.	243	Q13423	NNTM_HUMAN	T	243;243;112	ENSP00000264663:A243T;ENSP00000343873:A243T;ENSP00000426343:A112T	ENSP00000264663:A243T	A	+	1	0	NNT	43659930	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.334000	0.96470	2.793000	0.96121	0.561000	0.74099	GCA		0.413	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		89	141	89	141	---	---	---	---
KIF13A	63971	broad.mit.edu	37	6	17828567	17828567	+	Missense_Mutation	SNP	T	T	C			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr6:17828567T>C	ENST00000259711.6	-	14	1541	c.1436A>G	c.(1435-1437)gAt>gGt	p.D479G	KIF13A_ENST00000378814.5_Missense_Mutation_p.D479G|KIF13A_ENST00000378816.5_Missense_Mutation_p.D479G|KIF13A_ENST00000378826.2_Missense_Mutation_p.D479G|KIF13A_ENST00000378843.2_Missense_Mutation_p.D479G	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	479	FHA.				ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			AAGCTGGATATCTTGAGAGGT	0.403																																						ENST00000378814.5																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(1435-1437)gAt>gGt		kinesin family member 13A							70.0	65.0	67.0					6																	17828567		1895	4115	6010	SO:0001583	missense	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17828567T>C	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.1436A>G	6.37:g.17828567T>C	ENSP00000259711:p.Asp479Gly		Somatic				KIF13A_ENST00000378826.2_Missense_Mutation_p.D479G|KIF13A_ENST00000259711.6_Missense_Mutation_p.D479G|KIF13A_ENST00000378816.5_Missense_Mutation_p.D479G|KIF13A_ENST00000378843.2_Missense_Mutation_p.D479G	p.D479G	NM_001105568.2	NP_001099038.1	WXS	Illumina GAIIx	Phase_I	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		14	1435	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	479			FHA.		A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	c.1436A>G	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	T	29.1	4.979922	0.92982	.	.	ENSG00000137177	ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	D;D;D;D;D	0.90788	-2.73;-2.73;-2.73;-2.73;-2.73	6.04	6.04	0.98038	Forkhead-associated (FHA) domain (3);SMAD/FHA domain (1);	0.000000	0.85682	D	0.000000	D	0.95487	0.8534	M	0.87180	2.865	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.87578	0.996;0.972;0.971;0.997;0.998	D	0.96129	0.9091	10	0.87932	D	0	.	16.5885	0.84745	0.0:0.0:0.0:1.0	.	450;479;479;479;479	E7ER65;Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;.;KI13A_HUMAN;.	G	479	ENSP00000368091:D479G;ENSP00000259711:D479G;ENSP00000368103:D479G;ENSP00000368120:D479G;ENSP00000368093:D479G	ENSP00000259711:D479G	D	-	2	0	KIF13A	17936546	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.040000	0.89188	2.317000	0.78254	0.460000	0.39030	GAT		0.403	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			10	9	10	9	---	---	---	---
AP5Z1	9907	broad.mit.edu	37	7	4824568	4824568	+	Missense_Mutation	SNP	C	C	G			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr7:4824568C>G	ENST00000348624.4	+	7	914	c.820C>G	c.(820-822)Ctg>Gtg	p.L274V	AP5Z1_ENST00000401897.1_Missense_Mutation_p.L274V	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	274					cell death (GO:0008219)|double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-5 adaptor complex (GO:0044599)|AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|nucleus (GO:0005634)											GGGCTCCACTCTGTCGGTGAT	0.677																																						ENST00000348624.4																			0											c.(820-822)Ctg>Gtg		adaptor-related protein complex 5, zeta 1 subunit							15.0	18.0	17.0					7																	4824568		2006	4155	6161	SO:0001583	missense	9907				cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding	g.chr7:4824568C>G	AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"""KIAA0415"""	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.820C>G	7.37:g.4824568C>G	ENSP00000297562:p.Leu274Val		Somatic				AP5Z1_ENST00000401897.1_Missense_Mutation_p.L274V	p.L274V	NM_014855.2	NP_055670.1	WXS	Illumina GAIIx	Phase_I	O43299	K0415_HUMAN			7	914	+			274					Q8N3X2|Q96H80	Missense_Mutation	SNP	ENST00000348624.4	37	c.820C>G	CCDS47528.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.081094	0.00371	.	.	ENSG00000242802	ENST00000348624;ENST00000401897	T;T	0.40476	1.03;1.03	4.73	1.41	0.22369	.	0.646924	0.14615	N	0.308783	T	0.16428	0.0395	N	0.04686	-0.185	0.19945	N	0.999943	B	0.09022	0.002	B	0.09377	0.004	T	0.29822	-0.9999	10	0.05525	T	0.97	.	7.8031	0.29187	0.364:0.4192:0.2169:0.0	.	274	O43299	K0415_HUMAN	V	274	ENSP00000297562:L274V;ENSP00000384980:L274V	ENSP00000297562:L274V	L	+	1	2	KIAA0415	4791094	0.198000	0.23374	0.189000	0.23252	0.050000	0.14768	0.688000	0.25422	0.388000	0.25054	0.561000	0.74099	CTG		0.677	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323771.1			5	13	5	13	---	---	---	---
ZNF716	441234	broad.mit.edu	37	7	57528490	57528490	+	Missense_Mutation	SNP	A	A	T			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr7:57528490A>T	ENST00000420713.1	+	4	435	c.323A>T	c.(322-324)cAa>cTa	p.Q108L		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	108					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(20)|ovary(2)	24						GATTCACTCCAAAAAGTGATA	0.383																																						ENST00000420713.1																			0				breast(1)|kidney(1)|lung(20)|ovary(2)	24						c.(322-324)cAa>cTa		zinc finger protein 716							111.0	108.0	109.0					7																	57528490		692	1591	2283	SO:0001583	missense	441234							g.chr7:57528490A>T	AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"""Zinc fingers, C2H2-type"", ""-"""	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.323A>T	7.37:g.57528490A>T	ENSP00000394248:p.Gln108Leu		Somatic					p.Q108L	NM_001159279.1	NP_001152751.1	WXS	Illumina GAIIx	Phase_I					4	435	+									Missense_Mutation	SNP	ENST00000420713.1	37	c.323A>T	CCDS55112.1	.	.	.	.	.	.	.	.	.	.	A	11.38	1.620417	0.28801	.	.	ENSG00000182111	ENST00000420713;ENST00000418732	T	0.05717	3.4	0.195	0.195	0.15151	.	.	.	.	.	T	0.14830	0.0358	M	0.65320	2	0.22489	N	0.999053	D	0.60160	0.987	D	0.67725	0.953	T	0.15093	-1.0449	9	0.59425	D	0.04	.	2.6102	0.04889	0.5591:0.0:0.4409:0.0	.	96	A6NP11	ZN716_HUMAN	L	108;96	ENSP00000394248:Q108L	ENSP00000387687:Q96L	Q	+	2	0	ZNF716	57532432	0.003000	0.15002	0.083000	0.20561	0.083000	0.17756	1.687000	0.37680	0.257000	0.21650	0.254000	0.18369	CAA		0.383	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345309.1	NM_001159279		8	28	8	28	---	---	---	---
NUP205	23165	broad.mit.edu	37	7	135282771	135282771	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr7:135282771G>A	ENST00000285968.6	+	15	2116	c.2090G>A	c.(2089-2091)cGg>cAg	p.R697Q	NUP205_ENST00000440390.2_3'UTR	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	697					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						ATAGAATCCCGGTGTGAAGAA	0.403																																						ENST00000285968.6																			0				breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(2089-2091)cGg>cAg		nucleoporin 205kDa							145.0	158.0	154.0					7																	135282771		2203	4300	6503	SO:0001583	missense	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135282771G>A	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.2090G>A	7.37:g.135282771G>A	ENSP00000285968:p.Arg697Gln		Somatic				NUP205_ENST00000440390.2_3'UTR	p.R697Q	NM_015135.2	NP_055950	WXS	Illumina GAIIx	Phase_I	Q92621	NU205_HUMAN			15	2116	+			697					A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	c.2090G>A	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	G	31	5.070255	0.93950	.	.	ENSG00000155561	ENST00000285968	T	0.33216	1.42	5.73	5.73	0.89815	.	0.043737	0.85682	D	0.000000	T	0.46795	0.1411	L	0.55103	1.725	0.80722	D	1	D	0.71674	0.998	P	0.59761	0.863	T	0.13308	-1.0514	10	0.13470	T	0.59	-22.7226	19.8824	0.96903	0.0:0.0:1.0:0.0	.	697	Q92621	NU205_HUMAN	Q	697	ENSP00000285968:R697Q	ENSP00000285968:R697Q	R	+	2	0	NUP205	134933311	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.819000	0.99357	2.696000	0.92011	0.591000	0.81541	CGG		0.403	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			38	159	38	159	---	---	---	---
STAU2	27067	broad.mit.edu	37	8	74601015	74601015	+	Missense_Mutation	SNP	T	T	C			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr8:74601015T>C	ENST00000521419.1	-	4	340	c.34A>G	c.(34-36)Aca>Gca	p.T12A	RP11-463D19.2_ENST00000358757.5_3'UTR|STAU2_ENST00000523558.1_Intron|STAU2_ENST00000517542.1_Missense_Mutation_p.T12A|STAU2_ENST00000355780.5_Missense_Mutation_p.T18A|STAU2_ENST00000524300.1_Missense_Mutation_p.T50A|RP11-463D19.1_ENST00000533978.1_lincRNA|STAU2_ENST00000524104.1_Missense_Mutation_p.T18A|STAU2_ENST00000519961.1_Missense_Mutation_p.T50A|STAU2_ENST00000522509.1_Missense_Mutation_p.T18A|STAU2_ENST00000521727.1_Missense_Mutation_p.T30A|STAU2_ENST00000521451.1_Intron|STAU2_ENST00000521210.1_Intron|STAU2_ENST00000522962.1_5'UTR|STAU2_ENST00000522695.1_Missense_Mutation_p.T18A			Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	50	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.				transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			GATTCCCATGTCTGCTCACCA	0.418																																						ENST00000355780.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19						c.(52-54)Aca>Gca		staufen double-stranded RNA binding protein 2							152.0	144.0	147.0					8																	74601015		2203	4300	6503	SO:0001583	missense	27067				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding	g.chr8:74601015T>C	Y19062	CCDS6214.1, CCDS55244.1, CCDS55245.1, CCDS55246.1, CCDS55247.1, CCDS55248.1	8q21.11	2013-06-05	2013-06-05		ENSG00000040341	ENSG00000040341			11371	protein-coding gene	gene with protein product		605920	"""staufen (Drosophila, RNA-binding protein) homolog 2"", ""staufen, RNA binding protein, homolog 2 (Drosophila)"""			10585778	Standard	NM_014393		Approved	39K2	uc003xzm.3	Q9NUL3	OTTHUMG00000164499	ENST00000521419.1:c.34A>G	8.37:g.74601015T>C	ENSP00000428681:p.Thr12Ala		Somatic				STAU2_ENST00000524104.1_Missense_Mutation_p.T18A|STAU2_ENST00000523558.1_Intron|STAU2_ENST00000517542.1_Missense_Mutation_p.T12A|STAU2_ENST00000522962.1_5'UTR|STAU2_ENST00000521210.1_Intron|STAU2_ENST00000521727.1_Missense_Mutation_p.T30A|STAU2_ENST00000522509.1_Missense_Mutation_p.T18A|RP11-463D19.1_ENST00000533978.1_lincRNA|STAU2_ENST00000519961.1_Missense_Mutation_p.T50A|STAU2_ENST00000524300.1_Missense_Mutation_p.T50A|STAU2_ENST00000522695.1_Missense_Mutation_p.T18A|STAU2_ENST00000521419.1_Missense_Mutation_p.T12A|STAU2_ENST00000521451.1_Intron|RP11-463D19.2_ENST00000358757.5_3'UTR	p.T18A	NM_014393.2	NP_055208.2	WXS	Illumina GAIIx	Phase_I	Q9NUL3	STAU2_HUMAN	Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)		4	270	-	Breast(64;0.0138)		50			DRBM 1.		B7Z1I6|B7Z292|B7Z8B4|E7ER74|E9PEI3|E9PF26|E9PF50|Q6AHY7|Q96HM0|Q96HM1|Q9NVI5|Q9UGG6	Missense_Mutation	SNP	ENST00000521419.1	37	c.52A>G		.	.	.	.	.	.	.	.	.	.	T	11.51	1.661445	0.29515	.	.	ENSG00000040341	ENST00000522695;ENST00000524300;ENST00000355780;ENST00000519961;ENST00000521727;ENST00000522509;ENST00000517542;ENST00000521447;ENST00000524104;ENST00000521419;ENST00000521736	T;T;T;T;T;T;T;T	0.77229	1.55;-1.08;1.56;-1.08;1.56;1.56;1.56;0.97	5.73	3.21	0.36854	.	0.219182	0.48286	N	0.000200	T	0.62708	0.2450	L	0.35542	1.07	0.41995	D	0.990866	B;B;B;B;B;B;B	0.28850	0.144;0.144;0.004;0.225;0.001;0.004;0.034	B;B;B;B;B;B;B	0.29440	0.035;0.035;0.009;0.078;0.004;0.003;0.102	T	0.53795	-0.8388	10	0.15066	T	0.55	-17.456	8.3042	0.32032	0.0:0.0691:0.1336:0.7974	.	30;18;12;18;50;18;50	E7EPX0;A8K276;E5RGT3;F8VPI7;E7EVJ4;E9PH62;E9PF26	.;.;.;.;.;.;.	A	18;50;18;50;30;18;12;18;18;12;18	ENSP00000428456:T18A;ENSP00000428756:T50A;ENSP00000348026:T18A;ENSP00000430907:T50A;ENSP00000429973:T30A;ENSP00000427977:T18A;ENSP00000431111:T12A;ENSP00000428829:T18A	ENSP00000348026:T18A	T	-	1	0	STAU2	74763569	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.381000	0.34362	1.120000	0.41904	0.524000	0.50904	ACA		0.418	STAU2-013	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000379012.2	NM_001164380		52	174	52	174	---	---	---	---
ST3GAL1	6482	broad.mit.edu	37	8	134488066	134488066	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr8:134488066G>A	ENST00000319914.5	-	4	1229	c.202C>T	c.(202-204)Cgc>Tgc	p.R68C	ST3GAL1_ENST00000399640.2_Missense_Mutation_p.R68C|ST3GAL1_ENST00000522652.1_Missense_Mutation_p.R68C|ST3GAL1_ENST00000519435.1_5'Flank|ST3GAL1_ENST00000521180.1_Missense_Mutation_p.R68C			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	68					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein phosphorylation (GO:0006468)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			GAGAGCTTGCGCTGCCCGATG	0.612																																						ENST00000319914.5																			0				endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17						c.(202-204)Cgc>Tgc		ST3 beta-galactoside alpha-2,3-sialyltransferase 1							80.0	61.0	67.0					8																	134488066		2203	4300	6503	SO:0001583	missense	6482				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	g.chr8:134488066G>A	L29555	CCDS6373.1	8q24.22	2013-03-01	2003-01-14	2005-02-07	ENSG00000008513	ENSG00000008513	2.4.99.4	"""Sialyltransferases"""	10862	protein-coding gene	gene with protein product	"""ST3Gal I"""	607187	"""sialyltransferase 4A (beta-galactosidase alpha-2,3-sialytransferase)"""	SIAT4A		10504389, 7655169	Standard	NM_003033		Approved	ST3O, SIATFL, ST3GalA.1	uc003yuk.2	Q11201	OTTHUMG00000164534	ENST00000319914.5:c.202C>T	8.37:g.134488066G>A	ENSP00000318445:p.Arg68Cys		Somatic				ST3GAL1_ENST00000399640.2_Missense_Mutation_p.R68C|ST3GAL1_ENST00000521180.1_Missense_Mutation_p.R68C|ST3GAL1_ENST00000522652.1_Missense_Mutation_p.R68C	p.R68C			WXS	Illumina GAIIx	Phase_I	Q11201	SIA4A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.00721)		4	1229	-	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		68					O60677|Q9UN51	Missense_Mutation	SNP	ENST00000319914.5	37	c.202C>T	CCDS6373.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.259953	0.23051	.	.	ENSG00000008513	ENST00000319914;ENST00000399640;ENST00000521180;ENST00000522652;ENST00000523634	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	5.55	3.52	0.40303	.	1.119980	0.06488	N	0.734078	T	0.15565	0.0375	N	0.08118	0	0.23325	N	0.997901	P	0.44659	0.84	B	0.42522	0.39	T	0.36866	-0.9730	10	0.54805	T	0.06	-16.4776	12.5723	0.56344	0.0:0.1221:0.7442:0.1337	.	68	Q11201	SIA4A_HUMAN	C	68	ENSP00000318445:R68C;ENSP00000414073:R68C;ENSP00000428540:R68C;ENSP00000430515:R68C	ENSP00000318445:R68C	R	-	1	0	ST3GAL1	134557248	0.833000	0.29383	0.058000	0.19502	0.082000	0.17680	1.527000	0.35975	1.320000	0.45209	0.561000	0.74099	CGC		0.612	ST3GAL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379132.1	NM_003033		18	85	18	85	---	---	---	---
FAM196A	642938	broad.mit.edu	37	10	128973673	128973673	+	Silent	SNP	C	C	T	rs527749367		TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr10:128973673C>T	ENST00000522781.1	-	4	1542	c.987G>A	c.(985-987)ccG>ccA	p.P329P	FAM196A_ENST00000424811.2_Silent_p.P329P|DOCK1_ENST00000280333.6_Intron	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	329										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TCCCCAGCCCCGGCGGGGTGT	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		17434	0.0		0.0	False		,,,				2504	0.001					ENST00000522781.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(985-987)ccG>ccA		family with sequence similarity 196, member A							82.0	89.0	87.0					10																	128973673		2203	4300	6503	SO:0001819	synonymous_variant	642938							g.chr10:128973673C>T		CCDS31312.1	10q26.2	2009-09-11	2009-09-11	2009-09-11		ENSG00000188916			33859	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 141"""	C10orf141			Standard	NM_001039762		Approved	FLJ45557	uc001ljv.1	Q6ZSG2		ENST00000522781.1:c.987G>A	10.37:g.128973673C>T			Somatic				DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Silent_p.P329P	p.P329P	NM_001039762.2	NP_001034851.1	WXS	Illumina GAIIx	Phase_I	Q6ZSG2	F196A_HUMAN			4	1542	-			329					B2RNT4|B7ZME7	Silent	SNP	ENST00000522781.1	37	c.987G>A	CCDS31312.1																																																																																				0.632	FAM196A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050978.2	NM_001039762		55	67	55	67	---	---	---	---
CERS5	91012	broad.mit.edu	37	12	50536935	50536935	+	Missense_Mutation	SNP	A	A	G			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr12:50536935A>G	ENST00000317551.6	-	3	480	c.356T>C	c.(355-357)gTc>gCc	p.V119A	CERS5_ENST00000422340.2_Missense_Mutation_p.V61A	NM_147190.2	NP_671723.1	Q8N5B7	CERS5_HUMAN	ceramide synthase 5	119					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										GATTTTTCGGACATTCCAATC	0.493																																						ENST00000317551.6																			0											c.(355-357)gTc>gCc		ceramide synthase 5							172.0	177.0	175.0					12																	50536935		2203	4300	6503	SO:0001583	missense	91012				ceramide biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr12:50536935A>G		CCDS8801.1, CCDS61120.1	12q13.12	2014-09-04	2011-07-08	2011-07-08	ENSG00000139624			"""Homeoboxes / CERS class"""	23749	protein-coding gene	gene with protein product		615335	"""LAG1 longevity assurance homolog 5 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 5"""	LASS5			Standard	NM_147190		Approved	Trh4, MGC45411, FLJ25304	uc001rwd.4	Q8N5B7	OTTHUMG00000169819	ENST00000317551.6:c.356T>C	12.37:g.50536935A>G	ENSP00000325485:p.Val119Ala		Somatic				CERS5_ENST00000422340.2_Missense_Mutation_p.V61A	p.V119A	NM_147190.2	NP_671723.1	WXS	Illumina GAIIx	Phase_I	Q8N5B7	CERS5_HUMAN			3	480	-			119					B4DV54	Missense_Mutation	SNP	ENST00000317551.6	37	c.356T>C	CCDS8801.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.96|11.96	1.794095|1.794095	0.31777|0.31777	.|.	.|.	ENSG00000139624|ENSG00000139624	ENST00000547800|ENST00000551005;ENST00000317551;ENST00000422340	.|D;D;D	.|0.96041	.|-3.89;-3.89;-3.89	4.52|4.52	4.52|4.52	0.55395|0.55395	.|Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	.|0.126562	.|0.52532	.|D	.|0.000065	D|D	0.92522|0.92522	0.7625|0.7625	M|M	0.65498|0.65498	2.005|2.005	0.46203|0.46203	D|D	0.998927|0.998927	.|B;B;B	.|0.18741	.|0.012;0.002;0.03	.|B;B;B	.|0.22880	.|0.042;0.014;0.03	D|D	0.86605|0.86605	0.1869|0.1869	6|10	0.38643|0.10377	T|T	0.18|0.69	-8.2376|-8.2376	8.9459|8.9459	0.35758|0.35758	0.9161:0.0:0.0839:0.0|0.9161:0.0:0.0839:0.0	.|.	.|61;119;38	.|B4DV54;Q8N5B7;F8W0U5	.|.;CERS5_HUMAN;.	P|A	54|38;119;61	.|ENSP00000447556:V38A;ENSP00000325485:V119A;ENSP00000389050:V61A	ENSP00000407896:S84P|ENSP00000325485:V119A	S|V	-|-	1|2	0|0	CERS5|CERS5	48823202|48823202	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.352000|7.352000	0.79404|0.79404	2.033000|2.033000	0.60031|0.60031	0.528000|0.528000	0.53228|0.53228	TCC|GTC		0.493	CERS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406069.3	NM_147190		83	136	83	136	---	---	---	---
MYCBP2	23077	broad.mit.edu	37	13	77853046	77853046	+	Splice_Site	SNP	T	T	C			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr13:77853046T>C	ENST00000544440.2	-	4	498	c.481A>G	c.(481-483)Att>Gtt	p.I161V	MYCBP2_ENST00000357337.6_Splice_Site_p.I161V|MYCBP2_ENST00000407578.2_Splice_Site_p.I199V|MYCBP2_ENST00000360084.5_5'UTR					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ACCTCAATAATCTATTTAAAA	0.358																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(595-597)Att>Gtt		MYC binding protein 2, E3 ubiquitin protein ligase							29.0	32.0	31.0					13																	77853046		2203	4299	6502	SO:0001630	splice_region_variant	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77853046T>C	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.481-1A>G	13.37:g.77853046T>C			Somatic				MYCBP2_ENST00000357337.6_Splice_Site_p.I161V|MYCBP2_ENST00000544440.2_Splice_Site_p.I161V|MYCBP2_ENST00000360084.5_5'UTR	p.I199V	NM_015057.4	NP_055872.4	WXS	Illumina GAIIx	Phase_I	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	4	861	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	161						Splice_Site	SNP	ENST00000544440.2	37	c.595A>G		.	.	.	.	.	.	.	.	.	.	T	13.92	2.382043	0.42207	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.30714	1.53;1.52;1.53	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.33847	0.0877	N	0.21617	0.685	0.58432	D	0.999999	P	0.35745	0.518	P	0.47827	0.558	T	0.11470	-1.0586	10	0.32370	T	0.25	.	16.0351	0.80621	0.0:0.0:0.0:1.0	.	161	O75592	MYCB2_HUMAN	V	161;199;161	ENSP00000349892:I161V;ENSP00000384288:I199V;ENSP00000444596:I161V	ENSP00000349892:I161V	I	-	1	0	MYCBP2	76751047	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	8.040000	0.89188	2.186000	0.69663	0.533000	0.62120	ATT		0.358	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057	Missense_Mutation	10	25	10	25	---	---	---	---
NOP9	161424	broad.mit.edu	37	14	24769365	24769365	+	Silent	SNP	C	C	T			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr14:24769365C>T	ENST00000267425.3	+	1	298	c.205C>T	c.(205-207)Ctg>Ttg	p.L69L	DHRS1_ENST00000288111.7_5'Flank|DHRS1_ENST00000396813.1_5'Flank|NOP9_ENST00000396802.3_Silent_p.L69L	NM_174913.1	NP_777573.1	Q86U38	NOP9_HUMAN	NOP9 nucleolar protein	69							poly(A) RNA binding (GO:0044822)										CCGCCGGGCGCTGTCAGCATT	0.617																																						ENST00000267425.3																			0											c.(205-207)Ctg>Ttg		NOP9 nucleolar protein							50.0	59.0	56.0					14																	24769365		2180	4274	6454	SO:0001819	synonymous_variant	161424							g.chr14:24769365C>T		CCDS9624.1, CCDS66616.1	14q12	2012-12-10	2012-12-10	2012-06-06	ENSG00000196943	ENSG00000196943			19826	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 21"", ""NOP9 nucleolar protein homolog (yeast)"""	C14orf21		21653694	Standard	XM_005267385		Approved		uc001wol.1	Q86U38	OTTHUMG00000029342	ENST00000267425.3:c.205C>T	14.37:g.24769365C>T			Somatic				NOP9_ENST00000396802.3_Silent_p.L69L	p.L69L	NM_174913.1	NP_777573.1	WXS	Illumina GAIIx	Phase_I					1	298	+								A8MY76|Q8IVF0|Q8TBS6	Silent	SNP	ENST00000267425.3	37	c.205C>T	CCDS9624.1																																																																																				0.617	NOP9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073186.2			42	87	42	87	---	---	---	---
ACACA	31	broad.mit.edu	37	17	35479506	35479506	+	Missense_Mutation	SNP	T	T	C			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr17:35479506T>C	ENST00000394406.2	-	49	6164	c.5974A>G	c.(5974-5976)Aca>Gca	p.T1992A	ACACA_ENST00000353139.5_Missense_Mutation_p.T2029A|ACACA_ENST00000335166.5_Missense_Mutation_p.T1914A|ACACA_ENST00000361253.5_Missense_Mutation_p.T118A|ACACA_ENST00000360679.3_Missense_Mutation_p.T1934A	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1992	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	AGTTCTACTGTTCGGGTTTCT	0.463																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(6085-6087)Aca>Gca		acetyl-CoA carboxylase alpha	Biotin(DB00121)						197.0	178.0	184.0					17																	35479506		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35479506T>C	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.5974A>G	17.37:g.35479506T>C	ENSP00000377928:p.Thr1992Ala		Somatic				ACACA_ENST00000394406.2_Missense_Mutation_p.T1992A|ACACA_ENST00000361253.5_Missense_Mutation_p.T118A|ACACA_ENST00000335166.5_Missense_Mutation_p.T1914A|ACACA_ENST00000360679.3_Missense_Mutation_p.T1934A	p.T2029A	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	WXS	Illumina GAIIx	Phase_I	Q13085	ACACA_HUMAN			49	6566	-		Breast(25;0.00157)|Ovarian(249;0.15)	1992			Carboxyltransferase.		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.6085A>G	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	T	16.91	3.252112	0.59212	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330;ENST00000361253	T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52	5.96	5.96	0.96718	Acetyl-coenzyme A carboxyltransferase, C-terminal (1);Carboxyl transferase (1);	0.054275	0.85682	D	0.000000	T	0.37652	0.1011	M	0.72479	2.2	0.80722	D	1	B;B;B;B;B	0.17038	0.012;0.02;0.002;0.013;0.01	B;B;B;B;B	0.19946	0.021;0.019;0.006;0.027;0.016	T	0.11767	-1.0574	10	0.42905	T	0.14	-11.8385	16.4444	0.83913	0.0:0.0:0.0:1.0	.	30;691;2029;1992;1934	B4DIG6;F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;.;ACACA_HUMAN;.	A	2029;1934;1992;2016;1914;691;118	ENSP00000344789:T2029A;ENSP00000353898:T1934A;ENSP00000377928:T1992A;ENSP00000335323:T1914A;ENSP00000354565:T118A	ENSP00000335323:T1914A	T	-	1	0	ACACA	32553619	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.547000	0.45786	2.280000	0.76307	0.519000	0.50382	ACA		0.463	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		20	73	20	73	---	---	---	---
PRKAR1A	5573	broad.mit.edu	37	17	66519943	66519943	+	Silent	SNP	T	T	C	rs3730371		TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr17:66519943T>C	ENST00000589228.1	+	4	554	c.426T>C	c.(424-426)gaT>gaC	p.D142D	PRKAR1A_ENST00000392711.1_Silent_p.D142D|PRKAR1A_ENST00000588188.2_Silent_p.D142D|PRKAR1A_ENST00000536854.2_Silent_p.D142D|PRKAR1A_ENST00000358598.2_Silent_p.D142D|PRKAR1A_ENST00000586397.1_Silent_p.D142D	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	142					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cardiac muscle cell proliferation (GO:0060038)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|female meiotic division (GO:0007143)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sarcomere organization (GO:0045214)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					CACATCTTGATGATAATGAGA	0.368			"""T, Mis, N, F, S"""	RET	papillary thyroid	"""myxoma, endocrine, papillary thyroid"""			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of																												Ovarian(167;637 1670 33025 39608 46699 51856)	ENST00000589228.1			yes	"""Dom, Rec"""	yes	Carney complex	17	17q23-q24	5573	"""T, Mis, N, F, S"""	"""protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)"""			"""E, M"""	RET	"""myxoma, endocrine, papillary thyroid"""	papillary thyroid		0				adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31						c.(424-426)gaT>gaC		protein kinase, cAMP-dependent, regulatory, type I, alpha							100.0	95.0	97.0					17																	66519943		2203	4300	6503	SO:0001819	synonymous_variant	5573	Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2;Carney syndrome, NAME syndrome, LAMB syndrome, Familial Myxoma syndrome;	activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding	g.chr17:66519943T>C		CCDS11678.1, CCDS62307.1	17q24.2	2014-09-17	2012-07-31		ENSG00000108946	ENSG00000108946	2.7.11.1		9388	protein-coding gene	gene with protein product	"""Carney complex type 1"""	188830	"""tissue specific extinguisher 1"""	PRKAR1, TSE1		3479018, 10973256	Standard	NM_212471		Approved	CNC1	uc002jhg.4	P10644	OTTHUMG00000180128	ENST00000589228.1:c.426T>C	17.37:g.66519943T>C			Somatic				PRKAR1A_ENST00000588188.2_Silent_p.D142D|PRKAR1A_ENST00000536854.2_Silent_p.D142D|PRKAR1A_ENST00000358598.2_Silent_p.D142D|PRKAR1A_ENST00000586397.1_Silent_p.D142D|PRKAR1A_ENST00000392711.1_Silent_p.D142D	p.D142D	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	WXS	Illumina GAIIx	Phase_I	P10644	KAP0_HUMAN			4	554	+	Breast(10;1.64e-13)		142					K7ER48|Q567S7	Silent	SNP	ENST00000589228.1	37	c.426T>C	CCDS11678.1																																																																																				0.368	PRKAR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449884.1			12	21	12	21	---	---	---	---
ZNF236	7776	broad.mit.edu	37	18	74620423	74620423	+	Silent	SNP	A	A	G			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr18:74620423A>G	ENST00000253159.8	+	14	2637	c.2439A>G	c.(2437-2439)gcA>gcG	p.A813A	ZNF236_ENST00000320610.9_Silent_p.A815A	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	813					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		AGGTGGTCGCAGCGAACCCCG	0.632																																						ENST00000253159.8																			0				NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94						c.(2437-2439)gcA>gcG		zinc finger protein 236							50.0	58.0	55.0					18																	74620423		2105	4211	6316	SO:0001819	synonymous_variant	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74620423A>G	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.2439A>G	18.37:g.74620423A>G			Somatic				ZNF236_ENST00000320610.9_Silent_p.A815A	p.A813A	NM_007345.3	NP_031371.3	WXS	Illumina GAIIx	Phase_I	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	14	2637	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	813					B2RTX9|Q9UL37	Silent	SNP	ENST00000253159.8	37	c.2439A>G	CCDS42447.1																																																																																				0.632	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			40	39	40	39	---	---	---	---
PSG7	5676	broad.mit.edu	37	19	43439764	43439764	+	RNA	SNP	G	G	A			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr19:43439764G>A	ENST00000406070.2	-	0	318				PSG7_ENST00000471557.1_RNA|PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				AATGGTAGAGGTCCCTGATTT	0.423																																						ENST00000446844.3																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)							188.0	193.0	191.0					19																	43439764		2201	4299	6500			5676				female pregnancy	extracellular region		g.chr19:43439764G>A			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43439764G>A			Somatic				PSG7_ENST00000406070.2_RNA				WXS	Illumina GAIIx	Phase_I	Q13046	PSG7_HUMAN			0	311	-		Prostate(69;0.00682)						Q15232	RNA	SNP	ENST00000406070.2	37																																																																																						0.423	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		48	152	48	152	---	---	---	---
CACNG7	59284	broad.mit.edu	37	19	54444869	54444869	+	Splice_Site	SNP	G	G	A			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr19:54444869G>A	ENST00000391767.1	+	5	782	c.570G>A	c.(568-570)gaG>gaA	p.E190E	CACNG7_ENST00000391766.1_Silent_p.E190E|CACNG7_ENST00000222212.2_Splice_Site_p.E190E			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	190					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		TACTCAAAGAGGTGACGTCCG	0.552																																						ENST00000391767.1																			0				NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(568-570)gaG>gaA		calcium channel, voltage-dependent, gamma subunit 7							127.0	115.0	119.0					19																	54444869		2203	4300	6503	SO:0001630	splice_region_variant	59284				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54444869G>A	AF288387	CCDS12868.1	19q13.4	2008-05-02			ENSG00000105605	ENSG00000105605		"""Calcium channel subunits"""	13626	protein-coding gene	gene with protein product		606899				11170751	Standard	NM_031896		Approved		uc002qcr.2	P62955	OTTHUMG00000064852	ENST00000391767.1:c.570+1G>A	19.37:g.54444869G>A			Somatic				CACNG7_ENST00000391766.1_Silent_p.E190E|CACNG7_ENST00000222212.2_Splice_Site_p.E190E	p.E190E			WXS	Illumina GAIIx	Phase_I	P62955	CCG7_HUMAN		GBM - Glioblastoma multiforme(134;0.0711)	5	782	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		190					Q52LL8|Q8VBX3|Q8WXS6|Q9BXT1	Splice_Site	SNP	ENST00000391767.1	37	c.570G>A	CCDS12868.1																																																																																				0.552	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139240.2		Silent	4	77	4	77	---	---	---	---
KBTBD7	84078	broad.mit.edu	37	13	41767137	41767137	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr13:41767137delT	ENST00000379483.3	-	1	1565	c.1257delA	c.(1255-1257)gcafs	p.A419fs		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	419										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		GCAAGCGATCTGCAAGTTGCT	0.498																																						ENST00000379483.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1255-1257)gcafs		kelch repeat and BTB (POZ) domain containing 7							115.0	106.0	109.0					13																	41767137		2203	4297	6500	SO:0001589	frameshift_variant	84078						protein binding	g.chr13:41767137delT	AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"""BTB/POZ domain containing"""	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.1257delA	13.37:g.41767137delT	ENSP00000368797:p.Ala419fs		Somatic					p.A419fs	NM_032138.4	NP_115514.2	WXS	Illumina GAIIx	Phase_I	Q8WVZ9	KBTB7_HUMAN		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)	1	1565	-		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)	419					B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Frame_Shift_Del	DEL	ENST00000379483.3	37	c.1257delA	CCDS9377.1																																																																																				0.498	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1	NM_032138		20	83	20	83	---	---	---	---
