#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_BAM_File	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	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
ADAD1	132612	hgsc.bcm.edu;ucsc.edu	37	4	123332503	123332503	+	Silent	SNP	C	C	T			TCGA-BP-4797-01A-01D-1373-10	TCGA-BP-4797-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b7e1bde-7d7f-4fa7-8e87-e1a555c6ebad	5467d704-d6d5-410a-b8b3-15ee3afe92e9	g.chr4:123332503C>T	ENST00000296513.2	+	9	1160	c.975C>T	c.(973-975)taC>taT	p.Y325Y	ADAD1_ENST00000388725.2_Silent_p.Y307Y|ADAD1_ENST00000388724.2_Silent_p.Y314Y	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	325	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTTGCCTTTACATGAACCAGT	0.348																																																	0													96.0	92.0	93.0					4																	123332503		2203	4300	6503	SO:0001819	synonymous_variant	132612			AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.975C>T	4.37:g.123332503C>T			A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Silent	SNP	ENST00000296513.2	37	CCDS34058.1																																																																																				0.348	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316452.1		NM_139243	
AKT2	208	hgsc.bcm.edu	37	19	40741045	40741045	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4797-01A-01D-1373-10	TCGA-BP-4797-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b7e1bde-7d7f-4fa7-8e87-e1a555c6ebad	5467d704-d6d5-410a-b8b3-15ee3afe92e9	g.chr19:40741045G>A	ENST00000392038.2	-	13	1571	c.1273C>T	c.(1273-1275)Ccc>Tcc	p.P425S	AKT2_ENST00000424901.1_Missense_Mutation_p.P425S|AKT2_ENST00000579047.1_Missense_Mutation_p.P363S|AKT2_ENST00000311278.6_Missense_Mutation_p.P382S	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	425	AGC-kinase C-terminal.				activation of Ral GTPase activity (GO:0032859)|apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|fat cell differentiation (GO:0045444)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transmembrane transport (GO:0065002)|mammary gland epithelial cell differentiation (GO:0060644)|membrane organization (GO:0061024)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of cell motility (GO:2000147)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)|protein localization to plasma membrane (GO:0072659)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			GGTTTGAAGGGTGGCAGGAGC	0.602			A		"""ovarian, pancreatic """																																			Dom	yes		19	19q13.1-q13.2	208	v-akt murine thymoma viral oncogene homolog 2		E	0													130.0	116.0	120.0					19																	40741045		2203	4300	6503	SO:0001583	missense	208			M77198	CCDS12552.1	19q13.1-q13.2	2013-01-10			ENSG00000105221	ENSG00000105221	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	392	protein-coding gene	gene with protein product		164731				1409633	Standard	NM_001626		Approved		uc002onf.3	P31751	OTTHUMG00000137375	ENST00000392038.2:c.1273C>T	19.37:g.40741045G>A	ENSP00000375892:p.Pro425Ser		B2RBD8|Q05BV0|Q0VAN0|Q0VAN1|Q68GC0	Missense_Mutation	SNP	ENST00000392038.2	37	CCDS12552.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.225669	0.58668	.	.	ENSG00000105221	ENST00000392038;ENST00000391844;ENST00000424901;ENST00000311278	T;T;T	0.58060	0.36;0.36;0.36	5.29	5.29	0.74685	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.100868	0.64402	D	0.000001	T	0.62011	0.2393	M	0.87328	2.875	0.80722	D	1	P;B;P	0.40107	0.703;0.17;0.703	B;B;B	0.38921	0.285;0.15;0.207	T	0.70274	-0.4917	10	0.59425	D	0.04	.	17.8644	0.88792	0.0:0.0:1.0:0.0	.	363;382;425	B4DG79;Q0VAN0;P31751	.;.;AKT2_HUMAN	S	425;326;425;382	ENSP00000375892:P425S;ENSP00000399532:P425S;ENSP00000309428:P382S	ENSP00000309428:P382S	P	-	1	0	AKT2	45432885	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.492000	0.81482	2.761000	0.94854	0.655000	0.94253	CCC		0.602	AKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268029.1		NM_001626	
ANKEF1	63926	hgsc.bcm.edu	37	20	10030475	10030475	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4797-01A-01D-1373-10	TCGA-BP-4797-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b7e1bde-7d7f-4fa7-8e87-e1a555c6ebad	5467d704-d6d5-410a-b8b3-15ee3afe92e9	g.chr20:10030475A>T	ENST00000378380.3	+	6	1587	c.1258A>T	c.(1258-1260)Atg>Ttg	p.M420L	SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000488991.1_3'UTR|ANKEF1_ENST00000378392.1_Missense_Mutation_p.M420L|SNAP25-AS1_ENST00000603542.1_RNA	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	420							calcium ion binding (GO:0005509)										GGAAAAAGGGATGGGCAAAAA	0.433																																																	0													48.0	54.0	52.0					20																	10030475		2203	4300	6503	SO:0001583	missense	0			AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623		"""EF-hand domain containing"", ""Ankyrin repeat domain containing"""	15803	protein-coding gene	gene with protein product			"""ankyrin repeat domain 5"""	ANKRD5		17142250	Standard	NM_022096		Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.1258A>T	20.37:g.10030475A>T	ENSP00000367631:p.Met420Leu		B3KUQ0|Q9H6Y9	Missense_Mutation	SNP	ENST00000378380.3	37	CCDS13108.1	.	.	.	.	.	.	.	.	.	.	A	7.428	0.638102	0.14386	.	.	ENSG00000132623	ENST00000378392;ENST00000378380	T;T	0.64618	-0.11;-0.11	5.87	-0.943	0.10395	Ankyrin repeat-containing domain (1);	0.707067	0.15728	N	0.247591	T	0.37679	0.1012	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11542	-1.0583	10	0.22706	T	0.39	-2.7634	3.4062	0.07341	0.4109:0.3164:0.0595:0.2132	.	420	Q9NU02	ANKR5_HUMAN	L	420	ENSP00000367644:M420L;ENSP00000367631:M420L	ENSP00000367631:M420L	M	+	1	0	ANKRD5	9978475	0.032000	0.19561	0.002000	0.10522	0.365000	0.29674	1.513000	0.35823	-0.365000	0.08076	0.533000	0.62120	ATG		0.433	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077968.2		NM_022096	
ASMTL	8623	hgsc.bcm.edu	37	X	1537002	1537002	+	Silent	SNP	C	C	G			TCGA-BP-4797-01A-01D-1373-10	TCGA-BP-4797-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b7e1bde-7d7f-4fa7-8e87-e1a555c6ebad	5467d704-d6d5-410a-b8b3-15ee3afe92e9	g.chrX:1537002C>G	ENST00000381317.3	-	11	1418	c.1386G>C	c.(1384-1386)acG>acC	p.T462T	ASMTL_ENST00000381333.4_Silent_p.T446T|ASMTL_ENST00000416733.2_Silent_p.T386T|ASMTL_ENST00000534940.1_Silent_p.T404T	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	462	ASMT-like.					cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCAGTGCACCCGTGCAGCCTG	0.582													c|||	3352	0.669329	0.3699	0.7161	5008	,	,		19444	0.8294		0.6859	False		,,,				2504	0.8589																0									,,	1770,2444		379,1012,716	82.0	99.0	93.0		1212,1338,1386	-2.9	0.5	X		93	5876,2566		2051,1774,396	no	coding-synonymous,coding-synonymous,coding-synonymous	ASMTL	NM_001173473.1,NM_001173474.1,NM_004192.3	,,	2430,2786,1112	GG,GC,CC		30.3956,42.0028,39.586	,,	404/564,446/606,462/622	1537002	7646,5010	2107	4221	6328	SO:0001819	synonymous_variant	8623			Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"""Pseudoautosomal regions / PAR1"""	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057	ENST00000381317.3:c.1386G>C	X.37:g.1537002C>G			B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	Silent	SNP	ENST00000381317.3	37	CCDS43917.1																																																																																				0.582	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055595.1		NM_004192	
PRRC2C	23215	hgsc.bcm.edu;ucsc.edu	37	1	171505374	171505374	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4797-01A-01D-1373-10	TCGA-BP-4797-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b7e1bde-7d7f-4fa7-8e87-e1a555c6ebad	5467d704-d6d5-410a-b8b3-15ee3afe92e9	g.chr1:171505374G>T	ENST00000338920.4	+	14	2481	c.2244G>T	c.(2242-2244)atG>atT	p.M748I	PRRC2C_ENST00000426496.2_Missense_Mutation_p.M748I|PRRC2C_ENST00000367742.3_Missense_Mutation_p.M750I|PRRC2C_ENST00000392078.3_Missense_Mutation_p.M750I	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	748	Pro-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										ATCCTCGAATGATGTCAGGAA	0.423																																																	0													114.0	94.0	101.0					1																	171505374		2203	4300	6503	SO:0001583	missense	0			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.2244G>T	1.37:g.171505374G>T	ENSP00000343629:p.Met748Ile		Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	37	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	G	14.93	2.682988	0.47991	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080;ENST00000483654	T;T;T;T	0.03860	3.78;3.78;3.78;3.78	5.81	5.81	0.92471	.	0.000000	0.56097	D	0.000036	T	0.02455	0.0075	L	0.45051	1.395	0.50813	D	0.999893	B	0.24721	0.11	B	0.20184	0.028	T	0.49466	-0.8937	10	0.18710	T	0.47	.	16.336	0.83060	0.0:0.1319:0.8681:0.0	.	748	Q9Y520-4	.	I	750;749;748;750;748;505;507	ENSP00000375928:M750I;ENSP00000410219:M748I;ENSP00000356716:M750I;ENSP00000343629:M748I	ENSP00000343629:M748I	M	+	3	0	PRRC2C	169771998	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.974000	0.70465	2.736000	0.93811	0.655000	0.94253	ATG		0.423	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4		NM_015172	
SAMD15	161394	hgsc.bcm.edu	37	14	77844691	77844691	+	Silent	SNP	A	A	G			TCGA-BP-4797-01A-01D-1373-10	TCGA-BP-4797-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b7e1bde-7d7f-4fa7-8e87-e1a555c6ebad	5467d704-d6d5-410a-b8b3-15ee3afe92e9	g.chr14:77844691A>G	ENST00000216471.4	+	1	1216	c.930A>G	c.(928-930)ccA>ccG	p.P310P	SAMD15_ENST00000533095.2_Intron|TMED8_ENST00000216468.7_5'Flank	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	310										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGACTAAACCAGACTTTCCAG	0.458																																																	0													82.0	82.0	82.0					14																	77844691		2203	4300	6503	SO:0001819	synonymous_variant	0			AK093282	CCDS32126.1	14q24.3	2013-01-10	2010-10-20	2010-10-20	ENSG00000100583	ENSG00000100583		"""Sterile alpha motif (SAM) domain containing"""	18631	protein-coding gene	gene with protein product			"""family with sequence similarity 15, member A"", ""chromosome 14 open reading frame 174"""	FAM15A, C14orf174			Standard	XM_006720069		Approved	FLJ35963	uc001xtq.1	Q9P1V8		ENST00000216471.4:c.930A>G	14.37:g.77844691A>G			Q2M3P3	Silent	SNP	ENST00000216471.4	37	CCDS32126.1																																																																																				0.458	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394587.2		NM_001010860	
FAM98A	25940	hgsc.bcm.edu;ucsc.edu	37	2	33809869	33809869	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4797-01A-01D-1373-10	TCGA-BP-4797-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b7e1bde-7d7f-4fa7-8e87-e1a555c6ebad	5467d704-d6d5-410a-b8b3-15ee3afe92e9	g.chr2:33809869C>G	ENST00000238823.8	-	8	1671	c.1531G>C	c.(1531-1533)Gga>Cga	p.G511R	FAM98A_ENST00000498340.1_5'Flank|FAM98A_ENST00000441530.2_Missense_Mutation_p.G316R|FAM98A_ENST00000403368.1_3'UTR			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	512	Gly-rich.						poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					CTTCCCTGTCCAAATCCAGAA	0.433																																																	0													194.0	189.0	191.0					2																	33809869		2203	4300	6503	SO:0001583	missense	25940				CCDS33179.1	2p22.3	2006-11-29		2005-11-20	ENSG00000119812	ENSG00000119812			24520	protein-coding gene	gene with protein product						12477932	Standard	NM_015475		Approved	DKFZP564F0522	uc002rpa.1	Q8NCA5	OTTHUMG00000152152	ENST00000238823.8:c.1531G>C	2.37:g.33809869C>G	ENSP00000238823:p.Gly511Arg		B2RNA2|Q9Y3Y6	Missense_Mutation	SNP	ENST00000238823.8	37	CCDS33179.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.378075	0.42105	.	.	ENSG00000119812	ENST00000238823;ENST00000395190;ENST00000441530	T;T	0.54071	0.68;0.59	6.05	6.05	0.98169	.	0.123601	0.56097	D	0.000025	T	0.63640	0.2528	L	0.43152	1.355	0.50467	D	0.999877	D;D;D;D	0.57571	0.965;0.965;0.98;0.965	P;P;P;P	0.57152	0.742;0.742;0.814;0.742	T	0.59804	-0.7385	10	0.48119	T	0.1	-11.8771	20.6013	0.99457	0.0:1.0:0.0:0.0	.	512;342;511;349	Q8NCA5;B4DY25;Q8NCA5-2;B3KTW4	FA98A_HUMAN;.;.;.	R	511;512;316	ENSP00000238823:G511R;ENSP00000408716:G316R	ENSP00000238823:G511R	G	-	1	0	FAM98A	33663373	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.356000	0.66052	2.878000	0.98634	0.650000	0.86243	GGA		0.433	FAM98A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325457.2		NM_015475	
GATA1	2623	hgsc.bcm.edu	37	X	48649553	48649553	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4797-01A-01D-1373-10	TCGA-BP-4797-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b7e1bde-7d7f-4fa7-8e87-e1a555c6ebad	5467d704-d6d5-410a-b8b3-15ee3afe92e9	g.chrX:48649553G>A	ENST00000376670.3	+	2	148	c.37G>A	c.(37-39)Gag>Aag	p.E13K	GATA1_ENST00000376665.3_Missense_Mutation_p.E13K	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	13					basophil differentiation (GO:0030221)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cellular response to thyroid hormone stimulus (GO:0097067)|dendritic cell differentiation (GO:0097028)|embryonic hemopoiesis (GO:0035162)|eosinophil differentiation (GO:0030222)|eosinophil fate commitment (GO:0035854)|erythrocyte development (GO:0048821)|erythrocyte differentiation (GO:0030218)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|megakaryocyte differentiation (GO:0030219)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of definitive erythrocyte differentiation (GO:0010724)|regulation of glycoprotein biosynthetic process (GO:0010559)|transcription from RNA polymerase II promoter (GO:0006366)|transcriptional activation by promoter-enhancer looping (GO:0071733)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	C2H2 zinc finger domain binding (GO:0070742)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.M1fs(7)|p.E13*(1)|p.E2fs*444(1)|p.E13fs*26(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						GGGGACCTCAGAGCCCCTCCC	0.607			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome																																Pancreas(9;429 505 11287 29617)			Dom	yes		X	Xp11.23	2623	GATA binding protein 1 (globin transcription factor 1)		L	10	Deletion - Frameshift(8)|Substitution - Nonsense(1)|Complex - frameshift(1)	haematopoietic_and_lymphoid_tissue(10)											29.0	21.0	24.0					X																	48649553		2203	4299	6502	SO:0001583	missense	2623			X17254	CCDS14305.1	Xp11.23	2014-09-17	2001-11-28		ENSG00000102145	ENSG00000102145		"""GATA zinc finger domain containing"""	4170	protein-coding gene	gene with protein product	"""nuclear factor, erythroid 1"""	305371	"""GATA-binding protein 1 (globin transcription factor 1)"""	GF1		1999341	Standard	NM_002049		Approved	ERYF1, NFE1, GATA-1, NF-E1	uc004dkq.4	P15976	OTTHUMG00000021504	ENST00000376670.3:c.37G>A	X.37:g.48649553G>A	ENSP00000365858:p.Glu13Lys		Q96GB8	Missense_Mutation	SNP	ENST00000376670.3	37	CCDS14305.1	.	.	.	.	.	.	.	.	.	.	g	13.93	2.383163	0.42207	.	.	ENSG00000102145	ENST00000376670;ENST00000376665	D;D	0.98455	-4.94;-4.69	3.53	3.53	0.40419	.	0.406531	0.21403	U	0.075108	D	0.95884	0.8660	L	0.46157	1.445	0.39049	D	0.960297	B	0.02656	0.0	B	0.01281	0.0	D	0.94686	0.7870	10	0.72032	D	0.01	-9.5447	10.1191	0.42609	0.0:0.0:1.0:0.0	.	13	P15976	GATA1_HUMAN	K	13	ENSP00000365858:E13K;ENSP00000365853:E13K	ENSP00000365853:E13K	E	+	1	0	GATA1	48534497	0.998000	0.40836	0.980000	0.43619	0.653000	0.38743	3.201000	0.51059	1.382000	0.46385	0.165000	0.16767	GAG		0.607	GATA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056517.1		NM_002049	
GREB1	9687	hgsc.bcm.edu;ucsc.edu	37	2	11755345	11755345	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4797-01A-01D-1373-10	TCGA-BP-4797-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b7e1bde-7d7f-4fa7-8e87-e1a555c6ebad	5467d704-d6d5-410a-b8b3-15ee3afe92e9	g.chr2:11755345A>G	ENST00000381486.2	+	20	3551	c.3251A>G	c.(3250-3252)aAc>aGc	p.N1084S	GREB1_ENST00000234142.5_Missense_Mutation_p.N1084S|GREB1_ENST00000396123.1_Missense_Mutation_p.N82S	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1084						integral component of membrane (GO:0016021)		p.N1084I(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GGGGCTAGGAACGAGGCCTTG	0.577																																					Ovarian(39;850 945 2785 23371 33093)												1	Substitution - Missense(1)	ovary(1)											74.0	79.0	78.0					2																	11755345		2103	4224	6327	SO:0001583	missense	9687				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.3251A>G	2.37:g.11755345A>G	ENSP00000370896:p.Asn1084Ser		A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	A	9.429	1.084955	0.20390	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.20463	3.4;3.4;2.07	5.32	-7.65	0.01281	.	0.931300	0.09174	N	0.838343	T	0.08802	0.0218	N	0.16368	0.405	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44559	-0.9320	10	0.07325	T	0.83	-25.0896	10.446	0.44495	0.2782:0.1989:0.5229:0.0	.	1084	Q4ZG55	GREB1_HUMAN	S	1084;1084;82	ENSP00000370896:N1084S;ENSP00000234142:N1084S;ENSP00000379429:N82S	ENSP00000234142:N1084S	N	+	2	0	GREB1	11672796	0.009000	0.17119	0.015000	0.15790	0.885000	0.51271	0.455000	0.21843	-1.381000	0.02112	-0.466000	0.05196	AAC		0.577	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1		NM_014668	
JARID2	3720	hgsc.bcm.edu;ucsc.edu	37	6	15513604	15513604	+	Missense_Mutation	SNP	C	C	A	rs377162599		TCGA-BP-4797-01A-01D-1373-10	TCGA-BP-4797-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b7e1bde-7d7f-4fa7-8e87-e1a555c6ebad	5467d704-d6d5-410a-b8b3-15ee3afe92e9	g.chr6:15513604C>A	ENST00000341776.2	+	16	3645	c.3401C>A	c.(3400-3402)aCg>aAg	p.T1134K	JARID2_ENST00000397311.3_Missense_Mutation_p.T962K	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	1134					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CAGTTGGAGACGTCAGAGAGG	0.642																																																	0													67.0	60.0	62.0					6																	15513604		2203	4300	6503	SO:0001583	missense	3720			U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.3401C>A	6.37:g.15513604C>A	ENSP00000341280:p.Thr1134Lys		A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	ENST00000341776.2	37	CCDS4533.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.617116	0.46736	.	.	ENSG00000008083	ENST00000341776;ENST00000397311	D;D	0.83673	-1.75;-1.75	4.15	4.15	0.48705	.	0.122035	0.56097	D	0.000023	T	0.76506	0.3997	N	0.24115	0.695	0.54753	D	0.999985	D	0.58620	0.983	P	0.56474	0.799	T	0.76443	-0.2957	10	0.30854	T	0.27	-12.0332	16.6122	0.84886	0.0:1.0:0.0:0.0	.	1134	Q92833	JARD2_HUMAN	K	1134;962	ENSP00000341280:T1134K;ENSP00000380478:T962K	ENSP00000341280:T1134K	T	+	2	0	JARID2	15621583	1.000000	0.71417	0.994000	0.49952	0.980000	0.70556	7.508000	0.81686	2.140000	0.66376	0.462000	0.41574	ACG		0.642	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1		NM_004973	
MACF1	23499	hgsc.bcm.edu;ucsc.edu	37	1	39799692	39799692	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4797-01A-01D-1373-10	TCGA-BP-4797-11A-01D-1373-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	9b7e1bde-7d7f-4fa7-8e87-e1a555c6ebad	5467d704-d6d5-410a-b8b3-15ee3afe92e9	g.chr1:39799692T>G	ENST00000372915.3	+	36	7534	c.7447T>G	c.(7447-7449)Tta>Gta	p.L2483V	MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000564288.1_Missense_Mutation_p.L2478V|MACF1_ENST00000289893.4_Missense_Mutation_p.L918V|MACF1_ENST00000567887.1_Missense_Mutation_p.L2515V|MACF1_ENST00000361689.2_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2483					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TAAAGCACCTTTAACAGTTGT	0.408																																																	0													132.0	139.0	136.0					1																	39799692		2203	4300	6503	SO:0001583	missense	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.7447T>G	1.37:g.39799692T>G	ENSP00000362006:p.Leu2483Val		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.	.	.	.	.	.	.	.	.	.	T	10.99	1.506797	0.26949	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.69685	-0.42;-0.42	5.57	3.27	0.37495	.	0.000000	0.44902	D	0.000403	T	0.58061	0.2096	L	0.50919	1.6	0.80722	D	1	P	0.42296	0.775	B	0.39660	0.306	T	0.54596	-0.8270	10	0.48119	T	0.1	.	9.1699	0.37074	0.0:0.2714:0.0:0.7286	.	2483	Q9UPN3	MACF1_HUMAN	V	2483;918	ENSP00000362006:L2483V;ENSP00000289893:L918V	ENSP00000289893:L918V	L	+	1	2	MACF1	39572279	0.137000	0.22531	0.952000	0.39060	0.905000	0.53344	0.296000	0.19083	0.413000	0.25759	0.459000	0.35465	TTA		0.408	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1		NM_033044	
KANK4	163782	hgsc.bcm.edu	37	1	62740019	62740019	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4797-01A-01D-1373-10	TCGA-BP-4797-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b7e1bde-7d7f-4fa7-8e87-e1a555c6ebad	5467d704-d6d5-410a-b8b3-15ee3afe92e9	g.chr1:62740019A>G	ENST00000371153.4	-	3	1135	c.757T>C	c.(757-759)Tca>Cca	p.S253P	KANK4_ENST00000371150.1_5'Flank|KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	253	Pro-rich.					cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						TTCTGGAATGAGAAAGGAGGG	0.552																																																	0													42.0	38.0	39.0					1																	62740019		2203	4300	6503	SO:0001583	missense	163782			AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.757T>C	1.37:g.62740019A>G	ENSP00000360195:p.Ser253Pro		B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation	SNP	ENST00000371153.4	37	CCDS620.1	.	.	.	.	.	.	.	.	.	.	A	11.33	1.606388	0.28623	.	.	ENSG00000132854	ENST00000371153	T	0.47528	0.84	5.27	-1.33	0.09172	.	1.611770	0.04220	N	0.333438	T	0.37156	0.0993	L	0.50333	1.59	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14090	-1.0485	10	0.34782	T	0.22	-0.4801	1.3882	0.02245	0.2893:0.2788:0.2964:0.1355	.	253	Q5T7N3	KANK4_HUMAN	P	253	ENSP00000360195:S253P	ENSP00000360195:S253P	S	-	1	0	KANK4	62512607	.	.	0.000000	0.03702	0.042000	0.13812	.	.	-0.251000	0.09542	0.379000	0.24179	TCA		0.552	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1		NM_181712	
MAGED1	9500	hgsc.bcm.edu	37	X	51638328	51638328	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4797-01A-01D-1373-10	TCGA-BP-4797-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b7e1bde-7d7f-4fa7-8e87-e1a555c6ebad	5467d704-d6d5-410a-b8b3-15ee3afe92e9	g.chrX:51638328G>T	ENST00000375722.1	+	3	477	c.225G>T	c.(223-225)aaG>aaT	p.K75N	MAGED1_ENST00000326587.7_Missense_Mutation_p.K75N|MAGED1_ENST00000375772.3_Missense_Mutation_p.K75N|MAGED1_ENST00000375695.2_Missense_Mutation_p.K131N|MAGED1_ENST00000494718.1_3'UTR			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	75					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CTAGGCCTAAGTCAGCCTTTA	0.537										Multiple Myeloma(10;0.10)																																							0													46.0	37.0	40.0					X																	51638328		2203	4300	6503	SO:0001583	missense	9500			AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.225G>T	X.37:g.51638328G>T	ENSP00000364874:p.Lys75Asn		Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Missense_Mutation	SNP	ENST00000375722.1	37	CCDS14337.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.550680	0.27739	.	.	ENSG00000179222	ENST00000375772;ENST00000375722;ENST00000326587;ENST00000375695;ENST00000430189	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	3.47	-2.09	0.07232	.	0.000000	0.41938	D	0.000795	T	0.53302	0.1788	L	0.49126	1.545	0.27067	N	0.96341	D;P;P	0.67145	0.996;0.627;0.473	P;B;B	0.62298	0.9;0.219;0.091	T	0.49854	-0.8895	10	0.59425	D	0.04	.	4.1056	0.10035	0.5342:0.1843:0.2814:0.0	.	75;131;75	B4DQ04;Q9Y5V3-2;Q9Y5V3	.;.;MAGD1_HUMAN	N	75;75;75;131;75	ENSP00000364927:K75N;ENSP00000364874:K75N;ENSP00000325333:K75N;ENSP00000364847:K131N	ENSP00000325333:K75N	K	+	3	2	MAGED1	51655068	1.000000	0.71417	0.878000	0.34440	0.969000	0.65631	0.334000	0.19787	-0.567000	0.06046	0.458000	0.33432	AAG		0.537	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056593.1		NM_001005332	
MCTS1	28985	hgsc.bcm.edu	37	X	119739390	119739390	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4797-01A-01D-1373-10	TCGA-BP-4797-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b7e1bde-7d7f-4fa7-8e87-e1a555c6ebad	5467d704-d6d5-410a-b8b3-15ee3afe92e9	g.chrX:119739390A>T	ENST00000371317.5	+	2	397	c.140A>T	c.(139-141)aAa>aTa	p.K47I	MCTS1_ENST00000371315.3_Missense_Mutation_p.K48I|MCTS1_ENST00000487133.1_3'UTR	NM_014060.2	NP_054779.1	Q9ULC4	MCTS1_HUMAN	malignant T cell amplified sequence 1	47					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|formation of translation preinitiation complex (GO:0001731)|IRES-dependent translational initiation (GO:0002192)|positive regulation of cell proliferation (GO:0008284)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|ribosome disassembly (GO:0032790)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	translation initiation factor activity (GO:0003743)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|stomach(1)|urinary_tract(1)	10						ATGCCTAAGAAAGATCCTGTC	0.338																																																	0													79.0	79.0	79.0					X																	119739390		2203	4297	6500	SO:0001583	missense	28985			AB034206	CCDS14601.1, CCDS48160.1	Xq24	2008-05-14			ENSG00000232119	ENSG00000232119			23357	protein-coding gene	gene with protein product		300587				9766643	Standard	NM_014060		Approved	MCT-1	uc011mub.2	Q9ULC4	OTTHUMG00000022303	ENST00000371317.5:c.140A>T	X.37:g.119739390A>T	ENSP00000360367:p.Lys47Ile		B4DGY2|Q502X6	Missense_Mutation	SNP	ENST00000371317.5	37	CCDS14601.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.102839	0.76983	.	.	ENSG00000232119	ENST00000371317;ENST00000371315	T;T	0.58060	0.37;0.36	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.80265	0.4591	H	0.96111	3.77	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.988	D	0.86232	0.1638	9	.	.	.	-2.6665	13.0665	0.59036	1.0:0.0:0.0:0.0	.	48;47	Q9ULC4-3;Q9ULC4	.;MCTS1_HUMAN	I	47;48	ENSP00000360367:K47I;ENSP00000360365:K48I	.	K	+	2	0	MCTS1	119623418	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.210000	0.95106	1.676000	0.50930	0.417000	0.27973	AAA		0.338	MCTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058110.1		NM_014060	
NDUFS1	4719	hgsc.bcm.edu;ucsc.edu	37	2	206994925	206994925	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4797-01A-01D-1373-10	TCGA-BP-4797-11A-01D-1373-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			SOLID	9b7e1bde-7d7f-4fa7-8e87-e1a555c6ebad	5467d704-d6d5-410a-b8b3-15ee3afe92e9	g.chr2:206994925G>T	ENST00000233190.6	-	15	1861	c.1595C>A	c.(1594-1596)cCt>cAt	p.P532H	NDUFS1_ENST00000423725.1_Missense_Mutation_p.P475H|NDUFS1_ENST00000440274.1_Missense_Mutation_p.P496H|NDUFS1_ENST00000432169.1_Missense_Mutation_p.P421H|NDUFS1_ENST00000449699.1_Missense_Mutation_p.P532H|NDUFS1_ENST00000455934.2_Missense_Mutation_p.P546H|NDUFS1_ENST00000457011.1_Missense_Mutation_p.P416H	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	532					apoptotic mitochondrial changes (GO:0008637)|ATP metabolic process (GO:0046034)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)	2 iron, 2 sulfur cluster binding (GO:0051537)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTCCACCCCAGGCTTATAGCC	0.428																																																	0													77.0	73.0	74.0					2																	206994925		2203	4300	6503	SO:0001583	missense	4719				CCDS2366.1, CCDS56162.1, CCDS56163.1, CCDS56164.1, CCDS56165.1	2q33-q34	2011-07-04	2002-08-29		ENSG00000023228	ENSG00000023228	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7707	protein-coding gene	gene with protein product	"""complex I 75kDa subunit"", ""NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial"""	157655	"""NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase)"""			1935949	Standard	NM_005006		Approved	CI-75k	uc010ziq.2	P28331	OTTHUMG00000132892	ENST00000233190.6:c.1595C>A	2.37:g.206994925G>T	ENSP00000233190:p.Pro532His		B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9	Missense_Mutation	SNP	ENST00000233190.6	37	CCDS2366.1	.	.	.	.	.	.	.	.	.	.	g	26.5	4.748183	0.89663	.	.	ENSG00000023228	ENST00000233190;ENST00000423725;ENST00000457011;ENST00000440274;ENST00000455934;ENST00000449699;ENST00000432169	D;D;D;D;D;D;D	0.91407	-2.84;-2.84;-2.84;-2.84;-2.84;-2.84;-2.84	5.7	5.7	0.88788	Molybdopterin oxidoreductase (1);	0.208175	0.51477	D	0.000095	D	0.95717	0.8607	M	0.85859	2.78	0.80722	D	1	B;D;D;D	0.71674	0.134;0.993;0.998;0.996	P;D;D;D	0.64877	0.497;0.928;0.93;0.93	D	0.95846	0.8870	10	0.87932	D	0	-2.1501	19.8292	0.96628	0.0:0.0:1.0:0.0	.	421;496;546;532	B4DPG1;E7ENF3;B4DJA0;P28331	.;.;.;NDUS1_HUMAN	H	532;475;416;496;546;532;421	ENSP00000233190:P532H;ENSP00000397760:P475H;ENSP00000400976:P416H;ENSP00000409766:P496H;ENSP00000392709:P546H;ENSP00000399912:P532H;ENSP00000409689:P421H	ENSP00000233190:P532H	P	-	2	0	NDUFS1	206703170	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	9.512000	0.98008	2.689000	0.91719	0.491000	0.48974	CCT		0.428	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256391.4		NM_005006	
NFKB1	4790	hgsc.bcm.edu	37	4	103528456	103528456	+	Missense_Mutation	SNP	G	G	A	rs111293796		TCGA-BP-4797-01A-01D-1373-10	TCGA-BP-4797-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b7e1bde-7d7f-4fa7-8e87-e1a555c6ebad	5467d704-d6d5-410a-b8b3-15ee3afe92e9	g.chr4:103528456G>A	ENST00000505458.1	+	18	2378	c.2101G>A	c.(2101-2103)Gca>Aca	p.A701T	NFKB1_ENST00000600343.1_Missense_Mutation_p.A521T|NFKB1_ENST00000394820.4_Missense_Mutation_p.A701T|NFKB1_ENST00000226574.4_Missense_Mutation_p.A702T			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	701	Interaction with CFLAR.				apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	CATCTCATTGGCAGGCTGCCT	0.527																																																	0													75.0	73.0	74.0					4																	103528456		2203	4300	6503	SO:0001583	missense	4790			M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"""Ankyrin repeat domain containing"""	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.2101G>A	4.37:g.103528456G>A	ENSP00000424790:p.Ala701Thr		A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Missense_Mutation	SNP	ENST00000505458.1	37	CCDS54783.1	.	.	.	.	.	.	.	.	.	.	G	32	5.107042	0.94292	.	.	ENSG00000109320	ENST00000226574;ENST00000394820;ENST00000505458	T;T;T	0.39997	1.05;1.05;1.05	4.71	4.71	0.59529	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.64616	0.2614	M	0.70275	2.135	0.54753	D	0.999988	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	T	0.66064	-0.6016	10	0.45353	T	0.12	.	18.0418	0.89321	0.0:0.0:1.0:0.0	.	521;701;702	B3KVE8;P19838;P19838-2	.;NFKB1_HUMAN;.	T	702;701;701	ENSP00000226574:A702T;ENSP00000378297:A701T;ENSP00000424790:A701T	ENSP00000226574:A702T	A	+	1	0	NFKB1	103747494	1.000000	0.71417	0.992000	0.48379	0.934000	0.57294	8.179000	0.89692	2.308000	0.77769	0.655000	0.94253	GCA		0.527	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363411.1			
PAK6	56924	hgsc.bcm.edu	37	15	40568129	40568129	+	Splice_Site	SNP	T	T	C			TCGA-BP-4797-01A-01D-1373-10	TCGA-BP-4797-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b7e1bde-7d7f-4fa7-8e87-e1a555c6ebad	5467d704-d6d5-410a-b8b3-15ee3afe92e9	g.chr15:40568129T>C	ENST00000542403.2	+	9	1991	c.1880T>C	c.(1879-1881)gTc>gCc	p.V627A	PAK6_ENST00000560346.1_Splice_Site_p.V627A|PAK6_ENST00000453867.1_Splice_Site_p.V627A|PAK6_ENST00000455577.2_Splice_Site_p.V582A|PAK6_ENST00000260404.4_Splice_Site_p.V627A|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000441369.1_Splice_Site_p.V627A	NM_001276717.1	NP_001263646.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	627	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cytoskeleton organization (GO:0007010)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		CCTCTACAGGTCTCCCCAGTG	0.562																																																	0													87.0	85.0	86.0					15																	40568129		2203	4300	6503	SO:0001630	splice_region_variant	56924			AF276893	CCDS10054.1, CCDS61590.1	15q14	2008-06-17	2008-06-17		ENSG00000137843	ENSG00000137843			16061	protein-coding gene	gene with protein product		608110	"""p21(CDKN1A)-activated kinase 6"""			11278661	Standard	NM_020168		Approved	PAK5	uc001zlb.3	Q9NQU5	OTTHUMG00000129921	ENST00000542403.2:c.1879-1T>C	15.37:g.40568129T>C			A8K2G2|B3KYB0|G5E9R2	Missense_Mutation	SNP	ENST00000542403.2	37	CCDS10054.1	.	.	.	.	.	.	.	.	.	.	T	13.25	2.182235	0.38511	.	.	ENSG00000137843	ENST00000441369;ENST00000453867;ENST00000455577;ENST00000260404;ENST00000542403	T;T;T;T;T	0.41400	2.52;2.52;1.0;2.52;2.52	4.48	3.32	0.38043	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.322762	0.31747	N	0.007126	T	0.27663	0.0680	L	0.33792	1.035	0.46798	D	0.999207	B;B	0.06786	0.001;0.001	B;B	0.13407	0.009;0.003	T	0.15896	-1.0421	10	0.48119	T	0.1	.	4.9302	0.13914	0.0:0.3212:0.0:0.6788	.	627;582	Q9NQU5;G5E9R2	PAK6_HUMAN;.	A	627;627;582;627;627	ENSP00000406873:V627A;ENSP00000401153:V627A;ENSP00000409465:V582A;ENSP00000260404:V627A;ENSP00000439597:V627A	ENSP00000260404:V627A	V	+	2	0	PAK6	38355421	0.993000	0.37304	1.000000	0.80357	0.849000	0.48306	2.426000	0.44731	1.884000	0.54569	0.459000	0.35465	GTC		0.562	PAK6-004	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000418355.1			Missense_Mutation
PHF13	148479	hgsc.bcm.edu;ucsc.edu	37	1	6676887	6676887	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4797-01A-01D-1373-10	TCGA-BP-4797-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b7e1bde-7d7f-4fa7-8e87-e1a555c6ebad	5467d704-d6d5-410a-b8b3-15ee3afe92e9	g.chr1:6676887C>T	ENST00000377648.4	+	2	492	c.110C>T	c.(109-111)gCc>gTc	p.A37V	PHF13_ENST00000495385.1_Intron|KLHL21_ENST00000467612.1_5'Flank|KLHL21_ENST00000463043.1_5'Flank	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	37					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		TTTGTCTTGGCCTATGCTGGC	0.483																																																	0													144.0	115.0	125.0					1																	6676887		2203	4300	6503	SO:0001583	missense	148479			AK027492	CCDS85.1	1p36.23	2013-01-28			ENSG00000116273	ENSG00000116273		"""Zinc fingers, PHD-type"""	22983	protein-coding gene	gene with protein product							Standard	NM_153812		Approved	MGC43399	uc001aob.4	Q86YI8	OTTHUMG00000001439	ENST00000377648.4:c.110C>T	1.37:g.6676887C>T	ENSP00000366876:p.Ala37Val		B3KUQ7|Q59FB6|Q5TH65|Q8N551|Q9UJP2	Missense_Mutation	SNP	ENST00000377648.4	37	CCDS85.1	.	.	.	.	.	.	.	.	.	.	C	33	5.232574	0.95207	.	.	ENSG00000116273	ENST00000377648	T	0.47177	0.85	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.67841	0.2936	M	0.65975	2.015	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.71115	-0.4686	10	0.87932	D	0	-0.319	17.526	0.87800	0.0:1.0:0.0:0.0	.	37	Q86YI8	PHF13_HUMAN	V	37	ENSP00000366876:A37V	ENSP00000366876:A37V	A	+	2	0	PHF13	6599474	1.000000	0.71417	0.973000	0.42090	0.991000	0.79684	7.403000	0.79983	2.527000	0.85204	0.655000	0.94253	GCC		0.483	PHF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004201.1		NM_153812	
RPH3AL	9501	hgsc.bcm.edu	37	17	171098	171098	+	Silent	SNP	T	T	G	rs73971738	byFrequency	TCGA-BP-4797-01A-01D-1373-10	TCGA-BP-4797-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b7e1bde-7d7f-4fa7-8e87-e1a555c6ebad	5467d704-d6d5-410a-b8b3-15ee3afe92e9	g.chr17:171098T>G	ENST00000331302.7	-	4	493	c.186A>C	c.(184-186)gcA>gcC	p.A62A	RP11-1260E13.1_ENST00000572998.1_RNA|RP11-1260E13.1_ENST00000570501.1_RNA|RPH3AL_ENST00000576001.1_5'Flank|RPH3AL_ENST00000536489.2_Silent_p.A62A|RPH3AL_ENST00000323434.8_Silent_p.A62A	NM_001190411.1|NM_006987.3	NP_001177340.1|NP_008918.1	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	62	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|positive regulation of protein secretion (GO:0050714)|regulation of calcium ion-dependent exocytosis (GO:0017158)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|secretory granule membrane (GO:0030667)	cytoskeletal protein binding (GO:0008092)|metal ion binding (GO:0046872)			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		CGAGCCGCTCTGCCCTCTGGA	0.682													G|||	700	0.139776	0.2708	0.0893	5008	,	,		13780	0.0536		0.1173	False		,,,				2504	0.1104																0								G	,,,	1093,3313	720.2+/-409.0	124,845,1234	85.0	85.0	85.0		186,186,186,186	-5.0	0.9	17	dbSNP_130	85	1079,7521	768.7+/-407.6	73,933,3294	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RPH3AL	NM_001190411.1,NM_001190412.1,NM_001190413.1,NM_006987.3	,,,	197,1778,4528	GG,GT,TT		12.5465,24.8071,16.7	,,,	62/316,62/287,62/287,62/316	171098	2172,10834	2203	4300	6503	SO:0001819	synonymous_variant	9501				CCDS10994.1, CCDS54059.1	17p13.3	2014-07-02			ENSG00000181031	ENSG00000181031		"""Synaptotagmins"""	10296	protein-coding gene	gene with protein product		604881				10395805	Standard	NM_006987		Approved	Noc2	uc021tmx.1	Q9UNE2	OTTHUMG00000090273	ENST00000331302.7:c.186A>C	17.37:g.171098T>G			D3DTG7|Q9BSB3	Silent	SNP	ENST00000331302.7	37	CCDS10994.1																																																																																				0.682	RPH3AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206597.2		NM_006987	
SLC2A9	56606	hgsc.bcm.edu	37	4	9922170	9922170	+	Missense_Mutation	SNP	C	C	G	rs73225891	byFrequency	TCGA-BP-4797-01A-01D-1373-10	TCGA-BP-4797-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b7e1bde-7d7f-4fa7-8e87-e1a555c6ebad	5467d704-d6d5-410a-b8b3-15ee3afe92e9	g.chr4:9922170C>G	ENST00000264784.3	-	7	894	c.841G>C	c.(841-843)Gac>Cac	p.D281H	SLC2A9_ENST00000506583.1_Missense_Mutation_p.D252H|SLC2A9_ENST00000309065.3_Missense_Mutation_p.D252H|RP13-560N11.1_ENST00000504249.1_RNA	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	281			D -> H (in dbSNP:rs73225891). {ECO:0000269|PubMed:18327256, ECO:0000269|PubMed:18327257}.		glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	TGGGAAACGTCTGCTTTACCC	0.577													C|||	33	0.00658946	0.0008	0.0029	5008	,	,		21096	0.0		0.0288	False		,,,				2504	0.001																0								C	HIS/ASP,HIS/ASP	16,4390	23.3+/-48.9	0,16,2187	55.0	49.0	51.0		754,841	4.3	0.0	4	dbSNP_130	51	251,8349	97.7+/-159.3	3,245,4052	yes	missense,missense	SLC2A9	NM_001001290.1,NM_020041.2	81,81	3,261,6239	GG,GC,CC		2.9186,0.3631,2.0529	probably-damaging,probably-damaging	252/512,281/541	9922170	267,12739	2203	4300	6503	SO:0001583	missense	56606			AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"""Solute carriers"""	13446	protein-coding gene	gene with protein product	"""urate voltage-driven efflux transporter 1"""	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000264784.3:c.841G>C	4.37:g.9922170C>G	ENSP00000264784:p.Asp281His		Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Missense_Mutation	SNP	ENST00000264784.3	37	CCDS3407.1	25	0.011446886446886446	0	0.0	1	0.0027624309392265192	0	0.0	24	0.0316622691292876	C	14.12	2.441599	0.43326	0.003631	0.029186	ENSG00000109667	ENST00000506583;ENST00000264784;ENST00000309065	T;T;T	0.76448	-1.02;-1.02;-1.02	5.2	4.35	0.52113	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.050418	0.85682	N	0.000000	T	0.79227	0.4410	M	0.90977	3.165	0.46631	D	0.999132	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	D	0.86646	0.1895	9	.	.	.	.	14.7733	0.69696	0.0:0.8548:0.1452:0.0	.	252;281	Q9NRM0-2;Q9NRM0	.;GTR9_HUMAN	H	252;281;252	ENSP00000422209:D252H;ENSP00000264784:D281H;ENSP00000311383:D252H	.	D	-	1	0	SLC2A9	9531268	0.999000	0.42202	0.012000	0.15200	0.003000	0.03518	4.335000	0.59298	1.167000	0.42706	0.650000	0.86243	GAC		0.577	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207055.1			
TRO	7216	hgsc.bcm.edu	37	X	54953023	54953023	+	Silent	SNP	C	C	A			TCGA-BP-4797-01A-01D-1373-10	TCGA-BP-4797-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b7e1bde-7d7f-4fa7-8e87-e1a555c6ebad	5467d704-d6d5-410a-b8b3-15ee3afe92e9	g.chrX:54953023C>A	ENST00000173898.7	+	9	1777	c.1665C>A	c.(1663-1665)atC>atA	p.I555I	TRO_ENST00000319167.8_Silent_p.I555I|TRO_ENST00000399736.1_Silent_p.I158I|TRO_ENST00000420798.2_Silent_p.I86I|TRO_ENST00000375022.4_Silent_p.I555I|SNORA11_ENST00000408823.1_RNA|TRO_ENST00000375041.2_Silent_p.I158I	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	555	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						CAGCTGTCATCTGGGAGGTGC	0.587																																																	0													142.0	133.0	136.0					X																	54953023		2203	4300	6503	SO:0001819	synonymous_variant	7216			U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.1665C>A	X.37:g.54953023C>A			B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Silent	SNP	ENST00000173898.7	37	CCDS43959.1																																																																																				0.587	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3		NM_016157	
ZNF844	284391	hgsc.bcm.edu;ucsc.edu	37	19	12186207	12186207	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4797-01A-01D-1373-10	TCGA-BP-4797-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b7e1bde-7d7f-4fa7-8e87-e1a555c6ebad	5467d704-d6d5-410a-b8b3-15ee3afe92e9	g.chr19:12186207C>G	ENST00000439326.3	+	4	447	c.272C>G	c.(271-273)aCa>aGa	p.T91R	ZNF844_ENST00000441304.2_Missense_Mutation_p.H71D	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	91					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						CCAGATGACACACTGAACAAA	0.398																																																	0													84.0	76.0	78.0					19																	12186207		692	1591	2283	SO:0001583	missense	284391			AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"""Zinc fingers, C2H2-type"", ""-"""	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.272C>G	19.37:g.12186207C>G	ENSP00000392024:p.Thr91Arg		Q5JPI8	Missense_Mutation	SNP	ENST00000439326.3	37	CCDS45985.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.008|0.008	-1.916921|-1.916921	0.00503|0.00503	.|.	.|.	ENSG00000223547|ENSG00000223547	ENST00000441304|ENST00000439326;ENST00000541708;ENST00000535505	T|T	0.01887|0.07567	4.58|3.18	2.1|2.1	-4.19|-4.19	0.03835|0.03835	.|.	.|.	.|.	.|.	.|.	T|T	0.03136|0.03136	0.0092|0.0092	N|N	0.12961|0.12961	0.28|0.28	0.09310|0.09310	N|N	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.43294|0.43294	-0.9400|-0.9400	7|9	0.87932|0.15066	D|T	0|0.55	.|.	0.7088|0.7088	0.00920|0.00920	0.1629:0.2639:0.2699:0.3033|0.1629:0.2639:0.2699:0.3033	.|.	.|91	.|Q08AG5	.|ZN844_HUMAN	D|R	71|91	ENSP00000402097:H71D|ENSP00000392024:T91R	ENSP00000402097:H71D|ENSP00000392024:T91R	H|T	+|+	1|2	0|0	ZNF844|ZNF844	12047207|12047207	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-1.421000|-1.421000	0.02455|0.02455	-2.174000|-2.174000	0.00772|0.00772	-1.415000|-1.415000	0.01116|0.01116	CAC|ACA		0.398	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2			
