#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_EVS_AA	i_EVS_All	i_EVS_EA	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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	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_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ACOT2	10965	genome.wustl.edu	37	14	74042189	74042189	+	Missense_Mutation	SNP	A	A	G	rs7494	byFrequency	TCGA-A2-A0EO-01A-11W-A050-09	TCGA-A2-A0EO-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8e2f9eb7-0660-47ae-b86e-652e99fa69ca	daf64f76-2c6e-4d95-a8d9-1e4034f8d529	g.chr14:74042189A>G	ENST00000238651.5	+	3	1606	c.1424A>G	c.(1423-1425)cAc>cGc	p.H475R	ACOT2_ENST00000538782.1_Missense_Mutation_p.H278R	NM_006821.5	NP_006812.3	P49753	ACOT2_HUMAN	acyl-CoA thioesterase 2	475			H -> R (in dbSNP:rs7494). {ECO:0000269|PubMed:10944470, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.4}.		acyl-CoA metabolic process (GO:0006637)|long-chain fatty acid metabolic process (GO:0001676)|very long-chain fatty acid metabolic process (GO:0000038)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		TTGGGTGGCCACGAGGGGACA	0.478																																						dbGAP											0													26.0	35.0	32.0					14																	74042189		1878	3779	5657	-	-	-	SO:0001583	missense	0			AY005822, AK001939	CCDS9816.1	14q24.3	2013-09-20			ENSG00000119673	ENSG00000119673		"""Acyl CoA thioesterases"""	18431	protein-coding gene	gene with protein product	"""mitochondrial acyl-CoA thioesterase 1"""	609972				16103133, 16940157	Standard	NM_006821		Approved	Mte1, ZAP128	uc001xon.5	P49753	OTTHUMG00000171608	ENST00000238651.5:c.1424A>G	14.37:g.74042189A>G	ENSP00000238651:p.His475Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3I5F8|Q53EK4|Q9NUX4	Missense_Mutation	SNP	pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain	p.H475R	ENST00000238651.5	37	c.1424	CCDS9816.1	14	950	0.434981684981685	109	0.22154471544715448	160	0.4419889502762431	459	0.8024475524475524	222	0.2928759894459103	A	4.955	0.177425	0.09443	.	.	ENSG00000119673	ENST00000538782;ENST00000238651	T;T	0.39406	2.36;1.08	3.47	0.9	0.19278	.	1.633630	0.03548	N	0.225068	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.04013	0.0;0.001;0.001	T	0.37197	-0.9716	9	0.17832	T	0.49	10.0461	2.9076	0.05726	0.6566:0.0:0.1285:0.2148	rs7494;rs3174638;rs3742820	413;475;278	E9KL42;P49753;B3KSA0	.;ACOT2_HUMAN;.	R	278;475	ENSP00000440961:H278R;ENSP00000238651:H475R	ENSP00000238651:H475R	H	+	2	0	ACOT2	73111942	0.000000	0.05858	0.003000	0.11579	0.104000	0.19210	-0.054000	0.11826	-0.144000	0.11314	-0.558000	0.04189	CAC	ACOT2	-	pirsf_Acyl-CoA_thioEstase_long-chain	ENSG00000119673		0.478	ACOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOT2	HGNC	protein_coding	OTTHUMT00000414435.1	12	0.00	0	A	NM_006821		74042189	74042189	+1	no_errors	ENST00000238651	ensembl	human	known	69_37n	missense	18	35.71	10	SNP	0.000	G
ANKRD30BL	554226	genome.wustl.edu	37	2	133015454	133015454	+	5'UTR	SNP	C	C	T	rs79301155		TCGA-A2-A0EO-01A-11W-A050-09	TCGA-A2-A0EO-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8e2f9eb7-0660-47ae-b86e-652e99fa69ca	daf64f76-2c6e-4d95-a8d9-1e4034f8d529	g.chr2:133015454C>T	ENST00000470729.1	-	0	88				MIR663B_ENST00000408361.1_RNA	NR_027020.2		A7E2S9	A30BL_HUMAN	ankyrin repeat domain 30B-like											endometrium(1)|kidney(3)	4						TCCTTTCTCCCAGGCAAAGCA	0.692																																						dbGAP											0													46.0	47.0	47.0					2																	133015454		692	1591	2283	-	-	-	SO:0001623	5_prime_UTR_variant	0					2q21.2	2013-01-22	2010-06-14	2010-06-14	ENSG00000163046	ENSG00000163046		"""Ankyrin repeat domain containing"""	35167	protein-coding gene	gene with protein product			"""non-protein coding RNA 164"", ""ankyrin repeat domain 30B pseudogene 3"""	NCRNA00164, ANKRD30BP3		17114284	Standard	NR_027019		Approved		uc002tti.3	A7E2S9	OTTHUMG00000153491	ENST00000470729.1:c.-1337G>A	2.37:g.133015454C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B8ZZL7	RNA	SNP	-	NULL	ENST00000470729.1	37	NULL		2																																																																																			ANKRD30BL	-	-	ENSG00000163046		0.692	ANKRD30BL-002	KNOWN	basic	processed_transcript	ANKRD30BL	HGNC	protein_coding	OTTHUMT00000331354.1	25	0.00	0	C	NR_027019		133015454	133015454	-1	no_errors	ENST00000470729	ensembl	human	known	69_37n	rna	28	17.14	6	SNP	0.001	T
MYRF	745	genome.wustl.edu	37	11	61543803	61543804	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A2-A0EO-01A-11W-A050-09	TCGA-A2-A0EO-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8e2f9eb7-0660-47ae-b86e-652e99fa69ca	daf64f76-2c6e-4d95-a8d9-1e4034f8d529	g.chr11:61543803_61543804insC	ENST00000278836.5	+	10	1494_1495	c.1398_1399insC	c.(1399-1401)cccfs	p.P467fs	MYRF_ENST00000327797.1_Frame_Shift_Ins_p.P92fs|MYRF_ENST00000389602.4_5'Flank|MYRF_ENST00000265460.5_Frame_Shift_Ins_p.P458fs|TMEM258_ENST00000535042.1_Intron	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	467					central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GGGTCAATCTGCCCCCTGAGCA	0.639											OREG0021012	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.1403dupC	11.37:g.61543808_61543808dupC	ENSP00000278836:p.Pro467fs	Somatic	1054	WXS	Illumina GAIIx	Phase_IV	O43582|Q9P1Q6	Frame_Shift_Ins	INS	pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd	p.E468fs	ENST00000278836.5	37	c.1398_1399	CCDS44622.1	11																																																																																			C11orf9	-	pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd	ENSG00000124920		0.639	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C11orf9	HGNC	protein_coding	OTTHUMT00000398519.2	30	0.00	0	-	NM_013279		61543803	61543804	+1	no_errors	ENST00000278836	ensembl	human	known	69_37n	frame_shift_ins	25	10.71	3	INS	1.000:1.000	C
CBFB	865	genome.wustl.edu	37	16	67100696	67100696	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0EO-01A-11W-A050-09	TCGA-A2-A0EO-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8e2f9eb7-0660-47ae-b86e-652e99fa69ca	daf64f76-2c6e-4d95-a8d9-1e4034f8d529	g.chr16:67100696G>A	ENST00000290858.6	+	4	655	c.394G>A	c.(394-396)Gcc>Acc	p.A132T	CBFB_ENST00000412916.2_Missense_Mutation_p.A132T|CBFB_ENST00000561924.2_Missense_Mutation_p.A32T	NM_001755.2|NM_022845.2	NP_001746.1|NP_074036.1	Q13951	PEBB_HUMAN	core-binding factor, beta subunit	132					cell maturation (GO:0048469)|definitive hemopoiesis (GO:0060216)|lymphocyte differentiation (GO:0030098)|myeloid cell differentiation (GO:0030099)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|large_intestine(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066)		TGAGGAGCGAGCCCAGGTAGG	0.468			T	MYH11	AML																																	dbGAP		Dom	yes		16	16q22	865	"""core-binding factor, beta subunit"""		L	0													137.0	114.0	122.0					16																	67100696		2200	4300	6500	-	-	-	SO:0001583	missense	0			BC018509	CCDS10827.1, CCDS45508.1	16q22.1	2008-02-05			ENSG00000067955	ENSG00000067955			1539	protein-coding gene	gene with protein product		121360				8351518, 7587111	Standard	NM_001755		Approved	PEBP2B	uc002erb.3	Q13951	OTTHUMG00000137520	ENST00000290858.6:c.394G>A	16.37:g.67100696G>A	ENSP00000290858:p.Ala132Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K347|Q13124|Q9HCT2	Missense_Mutation	SNP	pfam_CBF_beta,superfamily_CBF_beta	p.A132T	ENST00000290858.6	37	c.394	CCDS10827.1	16	.	.	.	.	.	.	.	.	.	.	G	18.87	3.716236	0.68844	.	.	ENSG00000067955	ENST00000290858;ENST00000412916	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.83166	0.5195	M	0.79805	2.47	0.80722	D	1	D;D	0.64830	0.993;0.994	D;D	0.81914	0.991;0.995	D	0.85020	0.0911	9	0.87932	D	0	-16.0567	18.1601	0.89705	0.0:0.0:1.0:0.0	.	132;132	Q13951-2;Q13951	.;PEBB_HUMAN	T	132	.	ENSP00000290858:A132T	A	+	1	0	CBFB	65658197	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.578000	0.98200	2.648000	0.89879	0.561000	0.74099	GCC	CBFB	-	pfam_CBF_beta,superfamily_CBF_beta	ENSG00000067955		0.468	CBFB-001	KNOWN	basic|CCDS	protein_coding	CBFB	HGNC	protein_coding	OTTHUMT00000268843.2	111	0.00	0	G	NM_001755		67100696	67100696	+1	no_errors	ENST00000290858	ensembl	human	known	69_37n	missense	61	47.86	56	SNP	1.000	A
CROCCP2	84809	genome.wustl.edu	37	1	16950470	16950470	+	lincRNA	SNP	C	C	T	rs12144467	byFrequency	TCGA-A2-A0EO-01A-11W-A050-09	TCGA-A2-A0EO-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8e2f9eb7-0660-47ae-b86e-652e99fa69ca	daf64f76-2c6e-4d95-a8d9-1e4034f8d529	g.chr1:16950470C>T	ENST00000412962.1	-	0	1000							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AACAGGCTGCCCTCCAGGGCT	0.662																																						dbGAP											0																																										-	-	-			0			AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16950470C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	-	NULL	ENST00000412962.1	37	NULL		1																																																																																			CROCCP2	-	-	ENSG00000215908		0.662	CROCCP2-003	KNOWN	basic	lincRNA	CROCCP2	HGNC	lincRNA	OTTHUMT00000092784.1	30	0.00	0	C	NR_026752.1		16950470	16950470	-1	no_errors	ENST00000421700	ensembl	human	known	69_37n	rna	37	15.91	7	SNP	0.996	T
CFHR3	10878	genome.wustl.edu	37	1	196759282	196759282	+	Missense_Mutation	SNP	C	C	T	rs138675433		TCGA-A2-A0EO-01A-11W-A050-09	TCGA-A2-A0EO-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8e2f9eb7-0660-47ae-b86e-652e99fa69ca	daf64f76-2c6e-4d95-a8d9-1e4034f8d529	g.chr1:196759282C>T	ENST00000367425.4	+	5	813	c.721C>T	c.(721-723)Ccc>Tcc	p.P241S	CFHR3_ENST00000391985.3_Missense_Mutation_p.P180S	NM_021023.5	NP_066303.2	Q02985	FHR3_HUMAN	complement factor H-related 3	241	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.			P -> S (in Ref. 1; CAA48639). {ECO:0000305}.		blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.P241S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						CCAATGCCAGCCCTACTATGA	0.428																																						dbGAP											1	Substitution - Missense(1)	prostate(1)											101.0	148.0	134.0					1																	196759282		1754	4010	5764	-	-	-	SO:0001583	missense	0			X68679	CCDS30958.1, CCDS53453.1	1q32	2014-09-17		2006-02-28	ENSG00000116785	ENSG00000116785		"""Complement system"""	16980	protein-coding gene	gene with protein product	"""complement factor H related 3"""	605336		CFHL3		8428964, 10380701	Standard	NM_021023		Approved	FHR-3, HLF4, FHR3, DOWN16	uc001gtl.3	Q02985	OTTHUMG00000035929	ENST00000367425.4:c.721C>T	1.37:g.196759282C>T	ENSP00000356395:p.Pro241Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DPR0|Q9UJ16	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.P241S	ENST00000367425.4	37	c.721	CCDS30958.1	1	487	0.222985347985348	102	0.2073170731707317	61	0.1685082872928177	231	0.40384615384615385	93	0.12269129287598944	T	0.008	-1.884513	0.00532	.	.	ENSG00000116785	ENST00000367425;ENST00000391985	T;T	0.65178	-0.14;-0.14	3.27	-6.54	0.01860	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.00012	0.0000	N	0.01668	-0.77	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.09377	0.002;0.004	T	0.02398	-1.1165	8	0.06757	T	0.87	.	1.7706	0.03011	0.5551:0.1977:0.1048:0.1423	.	180;241	B4DPR0;Q02985	.;FHR3_HUMAN	S	241;180	ENSP00000356395:P241S;ENSP00000375845:P180S	ENSP00000356395:P241S	P	+	1	0	CFHR3	195025905	0.000000	0.05858	0.001000	0.08648	0.042000	0.13812	-3.343000	0.00504	-3.939000	0.00089	-1.461000	0.01025	CCC	CFHR3	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000116785		0.428	CFHR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFHR3	HGNC	protein_coding	OTTHUMT00000087505.2	155	0.64	1	C	NM_021023		196759282	196759282	+1	no_errors	ENST00000367425	ensembl	human	known	69_37n	missense	136	10.53	16	SNP	0.000	T
DEAF1	10522	genome.wustl.edu	37	11	687941	687941	+	Missense_Mutation	SNP	C	C	A			TCGA-A2-A0EO-01A-11W-A050-09	TCGA-A2-A0EO-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8e2f9eb7-0660-47ae-b86e-652e99fa69ca	daf64f76-2c6e-4d95-a8d9-1e4034f8d529	g.chr11:687941C>A	ENST00000382409.3	-	4	1118	c.634G>T	c.(634-636)Ggc>Tgc	p.G212C	DEAF1_ENST00000338675.6_Missense_Mutation_p.G212C	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	212	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G212S(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		TACAGAGTGCCGCTGATGTTC	0.542																																						dbGAP											1	Substitution - Missense(1)	lung(1)											76.0	71.0	73.0					11																	687941		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF049460	CCDS31327.1	11p15.5	2013-01-10	2013-01-10		ENSG00000177030	ENSG00000177030		"""Zinc fingers, MYND-type"""	14677	protein-coding gene	gene with protein product		602635	"""deformed epidermal autoregulatory factor 1 (Drosophila)"""			9773984	Standard	XR_428838		Approved	NUDR, SPN, ZMYND5	uc001lqq.1	O75398	OTTHUMG00000165363	ENST00000382409.3:c.634G>T	11.37:g.687941C>A	ENSP00000371846:p.Gly212Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Missense_Mutation	SNP	pfam_SAND_dom,pfam_Znf_MYND,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_Znf_MYND,pfscan_SAND_dom	p.G212C	ENST00000382409.3	37	c.634	CCDS31327.1	11	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665827	0.88251	.	.	ENSG00000177030	ENST00000382409;ENST00000338675;ENST00000359958;ENST00000388804	T;T	0.79940	-1.32;-0.89	4.77	4.77	0.60923	SAND domain-like (2);SAND domain (3);	0.000000	0.85682	D	0.000000	D	0.90875	0.7133	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92637	0.6121	10	0.87932	D	0	-41.8203	16.9509	0.86245	0.0:1.0:0.0:0.0	.	212	O75398	DEAF1_HUMAN	C	212;212;198;135	ENSP00000371846:G212C;ENSP00000341902:G212C	ENSP00000341902:G212C	G	-	1	0	DEAF1	677941	1.000000	0.71417	0.996000	0.52242	0.917000	0.54804	7.536000	0.82023	2.349000	0.79799	0.655000	0.94253	GGC	DEAF1	-	pfam_SAND_dom,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_SAND_dom	ENSG00000177030		0.542	DEAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEAF1	HGNC	protein_coding	OTTHUMT00000383614.3	33	0.00	0	C	NM_021008		687941	687941	-1	no_errors	ENST00000382409	ensembl	human	known	69_37n	missense	64	17.95	14	SNP	1.000	A
DPP10	57628	genome.wustl.edu	37	2	116497433	116497433	+	Silent	SNP	G	G	A	rs573090640		TCGA-A2-A0EO-01A-11W-A050-09	TCGA-A2-A0EO-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8e2f9eb7-0660-47ae-b86e-652e99fa69ca	daf64f76-2c6e-4d95-a8d9-1e4034f8d529	g.chr2:116497433G>A	ENST00000410059.1	+	9	1296	c.816G>A	c.(814-816)gcG>gcA	p.A272A	DPP10_ENST00000409163.1_Silent_p.A222A|DPP10_ENST00000310323.8_Silent_p.A265A|DPP10_ENST00000393147.2_Silent_p.A276A	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	272						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TTACTGGAGCGTTGTATCCCA	0.458													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20092	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													235.0	206.0	216.0					2																	116497433		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.816G>A	2.37:g.116497433G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Silent	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.A276	ENST00000410059.1	37	c.828	CCDS46400.1	2																																																																																			DPP10	-	pfam_Peptidase_S9B	ENSG00000175497		0.458	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DPP10	HGNC	protein_coding	OTTHUMT00000330580.4	81	0.00	0	G	NM_020868		116497433	116497433	+1	no_errors	ENST00000393147	ensembl	human	known	69_37n	silent	162	13.54	26	SNP	0.002	A
ELP2	55250	genome.wustl.edu	37	18	33722826	33722826	+	Silent	SNP	C	C	T			TCGA-A2-A0EO-01A-11W-A050-09	TCGA-A2-A0EO-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8e2f9eb7-0660-47ae-b86e-652e99fa69ca	daf64f76-2c6e-4d95-a8d9-1e4034f8d529	g.chr18:33722826C>T	ENST00000358232.6	+	8	756	c.693C>T	c.(691-693)tgC>tgT	p.C231C	ELP2_ENST00000542824.1_Silent_p.C205C|ELP2_ENST00000442325.2_Silent_p.C296C|ELP2_ENST00000351393.6_Silent_p.C205C|ELP2_ENST00000423854.2_Silent_p.C161C|ELP2_ENST00000350494.6_Silent_p.C270C	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	231					chromatin organization (GO:0006325)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						CACAAGATTGCCTGATAAGAA	0.279																																						dbGAP											0													60.0	63.0	62.0					18																	33722826		2202	4295	6497	-	-	-	SO:0001819	synonymous_variant	0			AK001741	CCDS11918.1, CCDS56065.1, CCDS56066.1, CCDS56067.1, CCDS56068.1, CCDS56069.1	18q12.1	2013-01-10	2012-08-08	2007-04-20	ENSG00000134759	ENSG00000134759		"""Elongator acetyltransferase complex subunits"", ""WD repeat domain containing"""	18248	protein-coding gene	gene with protein product			"""signal transducer and activator of transcription 3 interacting protein 1"", ""elongation protein 2 homolog (S. cerevisiae)"""	STATIP1		11714725, 10954736	Standard	NM_001242875		Approved	FLJ10879, StIP	uc002kzk.2	Q6IA86	OTTHUMG00000132589	ENST00000358232.6:c.693C>T	18.37:g.33722826C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.C231	ENST00000358232.6	37	c.693	CCDS11918.1	18	.	.	.	.	.	.	.	.	.	.	C	9.555	1.117018	0.20795	.	.	ENSG00000134759	ENST00000535093	.	.	.	5.17	0.761	0.18448	.	.	.	.	.	T	0.55016	0.1894	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47129	-0.9141	4	.	.	.	-2.4295	8.0855	0.30769	0.0:0.5849:0.0:0.4151	.	.	.	.	V	52	.	.	A	+	2	0	ELP2	31976824	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	0.977000	0.29475	0.281000	0.22233	0.491000	0.48974	GCC	ELP2	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000134759		0.279	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELP2	HGNC	protein_coding	OTTHUMT00000255800.2	151	0.00	0	C	NM_018255		33722826	33722826	+1	no_errors	ENST00000358232	ensembl	human	known	69_37n	silent	171	10.94	21	SNP	0.998	T
ENPEP	2028	genome.wustl.edu	37	4	111397624	111397624	+	Frame_Shift_Del	DEL	T	T	-	rs575628005		TCGA-A2-A0EO-01A-11W-A050-09	TCGA-A2-A0EO-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8e2f9eb7-0660-47ae-b86e-652e99fa69ca	daf64f76-2c6e-4d95-a8d9-1e4034f8d529	g.chr4:111397624delT	ENST00000265162.5	+	1	396	c.54delT	c.(52-54)catfs	p.H18fs		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	18					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		AAACGAAACATGTGGCCATTC	0.488																																						dbGAP											0													195.0	180.0	185.0					4																	111397624		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.54delT	4.37:g.111397624delT	ENSP00000265162:p.His18fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q504U2	Frame_Shift_Del	DEL	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.H18fs	ENST00000265162.5	37	c.54	CCDS3691.1	4																																																																																			ENPEP	-	NULL	ENSG00000138792		0.488	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPEP	HGNC	protein_coding	OTTHUMT00000255747.2	195	0.00	0	T			111397624	111397624	+1	no_errors	ENST00000265162	ensembl	human	known	69_37n	frame_shift_del	217	31.23	104	DEL	0.756	-
GJA1	2697	genome.wustl.edu	37	6	121768373	121768373	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0EO-01A-11W-A050-09	TCGA-A2-A0EO-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8e2f9eb7-0660-47ae-b86e-652e99fa69ca	daf64f76-2c6e-4d95-a8d9-1e4034f8d529	g.chr6:121768373T>G	ENST00000282561.3	+	2	537	c.380T>G	c.(379-381)tTg>tGg	p.L127W		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	127					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|atrial cardiac muscle cell action potential (GO:0086014)|atrial ventricular junction remodeling (GO:0003294)|blood vessel morphogenesis (GO:0048514)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|cell-cell signaling (GO:0007267)|cellular response to mechanical stimulus (GO:0071260)|chronic inflammatory response (GO:0002544)|embryonic digit morphogenesis (GO:0042733)|endothelium development (GO:0003158)|epithelial cell maturation (GO:0002070)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lens development in camera-type eye (GO:0002088)|membrane organization (GO:0061024)|milk ejection (GO:0060156)|muscle contraction (GO:0006936)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of gene expression (GO:0010629)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|osteoblast differentiation (GO:0001649)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of cell communication by chemical coupling (GO:0010652)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein oligomerization (GO:0051259)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of bone mineralization (GO:0030500)|regulation of bone remodeling (GO:0046850)|regulation of calcium ion transport (GO:0051924)|regulation of tight junction assembly (GO:2000810)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to fluid shear stress (GO:0034405)|response to peptide hormone (GO:0043434)|response to pH (GO:0009268)|signal transduction (GO:0007165)|skeletal muscle tissue regeneration (GO:0043403)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vascular transport (GO:0010232)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|contractile fiber (GO:0043292)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gap junction (GO:0005921)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial outer membrane (GO:0005741)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion transmembrane transporter activity (GO:0015075)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	GACATGCACTTGAAGCAGATT	0.443																																						dbGAP											0													128.0	120.0	123.0					6																	121768373		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC026329	CCDS5123.1	6q22.31	2013-05-10	2007-01-16		ENSG00000152661	ENSG00000152661		"""Ion channels / Gap junction proteins (connexins)"""	4274	protein-coding gene	gene with protein product	"""oculodentodigital dysplasia (syndactyly type III)"", ""connexin 43"""	121014	"""gap junction protein, alpha-like"", ""gap junction protein, alpha 1, 43kDa (connexin 43)"""	ODDD, GJAL		10331943, 1646158	Standard	NM_000165		Approved	CX43, ODD, ODOD, SDTY3	uc003pyr.3	P17302	OTTHUMG00000015479	ENST00000282561.3:c.380T>G	6.37:g.121768373T>G	ENSP00000282561:p.Leu127Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5U9|Q6FHU1|Q9Y5I8	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,pfam_Connexin43_C,smart_Connexin_N,prints_Connexin,prints_Connexin43	p.L127W	ENST00000282561.3	37	c.380	CCDS5123.1	6	.	.	.	.	.	.	.	.	.	.	T	14.05	2.421228	0.42918	.	.	ENSG00000152661	ENST00000440608;ENST00000282561	D	0.97598	-4.45	5.23	4.05	0.47172	.	0.958974	0.08664	N	0.911999	D	0.97263	0.9105	M	0.77820	2.39	0.47698	D	0.999492	D	0.63880	0.993	P	0.58970	0.849	D	0.93873	0.7164	10	0.51188	T	0.08	.	11.375	0.49722	0.1359:0.0:0.0:0.8641	.	127	P17302	CXA1_HUMAN	W	111;127	ENSP00000282561:L127W	ENSP00000282561:L127W	L	+	2	0	GJA1	121810072	1.000000	0.71417	0.890000	0.34922	0.186000	0.23388	6.249000	0.72427	0.818000	0.34468	0.377000	0.23210	TTG	GJA1	-	NULL	ENSG00000152661		0.443	GJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA1	HGNC	protein_coding	OTTHUMT00000042023.1	109	0.00	0	T	NM_000165		121768373	121768373	+1	no_errors	ENST00000282561	ensembl	human	known	69_37n	missense	67	51.09	70	SNP	0.999	G
GPR97	222487	genome.wustl.edu	37	16	57719640	57719640	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0EO-01A-11W-A050-09	TCGA-A2-A0EO-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8e2f9eb7-0660-47ae-b86e-652e99fa69ca	daf64f76-2c6e-4d95-a8d9-1e4034f8d529	g.chr16:57719640G>A	ENST00000333493.4	+	11	1503	c.1342G>A	c.(1342-1344)Gtg>Atg	p.V448M	GPR97_ENST00000327655.6_Missense_Mutation_p.V238M|RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000450388.3_Missense_Mutation_p.V328M	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	448					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTTTGGCATGGTGGTCCTGGC	0.597																																						dbGAP											0													175.0	152.0	160.0					16																	57719640		2198	4300	6498	-	-	-	SO:0001583	missense	0			AY140959	CCDS10786.1	16q13	2014-08-08			ENSG00000182885	ENSG00000182885		"""-"", ""GPCR / Class B : Orphans"""	13728	protein-coding gene	gene with protein product						12435584, 222487	Standard	NM_170776		Approved	Pb99, PGR26	uc002emh.3	Q86Y34	OTTHUMG00000133458	ENST00000333493.4:c.1342G>A	16.37:g.57719640G>A	ENSP00000332900:p.Val448Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZMF4|Q86SL9|Q8IZF1	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56	p.V448M	ENST00000333493.4	37	c.1342	CCDS10786.1	16	.	.	.	.	.	.	.	.	.	.	G	11.61	1.691192	0.30052	.	.	ENSG00000182885	ENST00000333493;ENST00000327655;ENST00000450388	T;T;T	0.50277	0.75;0.99;0.75	5.65	2.62	0.31277	GPCR, family 2-like (1);	0.467644	0.19750	N	0.106922	T	0.54319	0.1851	M	0.90650	3.135	0.21527	N	0.999654	P	0.46859	0.885	B	0.41440	0.357	T	0.54629	-0.8265	10	0.62326	D	0.03	.	10.2658	0.43453	0.2158:0.0:0.7842:0.0	.	448	Q86Y34	GPR97_HUMAN	M	448;238;328	ENSP00000332900:V448M;ENSP00000331199:V238M;ENSP00000404803:V328M	ENSP00000331199:V238M	V	+	1	0	GPR97	56277141	0.000000	0.05858	0.322000	0.25334	0.379000	0.30106	0.296000	0.19083	0.330000	0.23485	0.655000	0.94253	GTG	GPR97	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	ENSG00000182885		0.597	GPR97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR97	HGNC	protein_coding	OTTHUMT00000257333.2	187	0.00	0	G	NM_170776		57719640	57719640	+1	no_errors	ENST00000333493	ensembl	human	known	69_37n	missense	119	45.41	99	SNP	0.517	A
GPS2	2874	genome.wustl.edu	37	17	7217829	7217830	+	In_Frame_Ins	INS	-	-	ATT			TCGA-A2-A0EO-01A-11W-A050-09	TCGA-A2-A0EO-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8e2f9eb7-0660-47ae-b86e-652e99fa69ca	daf64f76-2c6e-4d95-a8d9-1e4034f8d529	g.chr17:7217829_7217830insATT	ENST00000380728.2	-	3	481_482	c.181_182insAAT	c.(181-183)tca>tAATca	p.60_61ins*	NEURL4_ENST00000574120.1_5'Flank|GPS2_ENST00000389167.5_In_Frame_Ins_p.60_61ins*|RP11-542C16.2_ENST00000575474.1_3'UTR|GPS2_ENST00000391950.3_In_Frame_Ins_p.60_61ins*			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	60					cell cycle (GO:0007049)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase inhibitor activity (GO:0005095)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				CTCCTCTAATGACAttctctct	0.45																																						dbGAP											0																																										-	-	-	SO:0001652	inframe_insertion	0			U28963	CCDS11100.1	17p13.1	2006-04-29			ENSG00000132522	ENSG00000132522			4550	protein-coding gene	gene with protein product		601935				8943324	Standard	NM_004489		Approved		uc002gfx.1	Q13227	OTTHUMG00000102198	ENST00000380728.2:c.181_182insAAT	17.37:g.7217829_7217830insATT	ENSP00000370104:p.Ser61*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DXA1|Q6FHM8	In_Frame_Ins	INS	NULL	p.SLEE61in_frame_ins*	ENST00000380728.2	37	c.182_181	CCDS11100.1	17																																																																																			GPS2	-	NULL	ENSG00000132522		0.450	GPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPS2	HGNC	protein_coding	OTTHUMT00000220048.4	246	0.00	0	-	NM_004489		7217829	7217830	-1	no_errors	ENST00000380728	ensembl	human	known	69_37n	in_frame_ins	162	35.71	90	INS	0.999:1.000	ATT
HIST2H2BE	8349	genome.wustl.edu	37	1	149857851	149857851	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0EO-01A-11W-A050-09	TCGA-A2-A0EO-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8e2f9eb7-0660-47ae-b86e-652e99fa69ca	daf64f76-2c6e-4d95-a8d9-1e4034f8d529	g.chr1:149857851C>T	ENST00000369155.2	-	1	381	c.340G>A	c.(340-342)Gag>Aag	p.E114K	BOLA1_ENST00000369153.2_5'Flank|HIST2H2AC_ENST00000331380.2_5'Flank	NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	114					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			TTGGTGCCCTCGGACACGGCG	0.677																																						dbGAP											0													28.0	32.0	31.0					1																	149857851		2202	4296	6498	-	-	-	SO:0001583	missense	0			AY131979	CCDS936.1	1q21.2	2011-01-27	2006-10-11	2003-03-07	ENSG00000184678	ENSG00000184678		"""Histones / Replication-dependent"""	4760	protein-coding gene	gene with protein product		601831	"""H2B histone family, member Q"", ""histone 2, H2be"""	H2B, H2BFQ		1469070, 12408966	Standard	NM_003528		Approved	H2B/q, H2B.1	uc001etc.3	Q16778	OTTHUMG00000012095	ENST00000369155.2:c.340G>A	1.37:g.149857851C>T	ENSP00000358151:p.Glu114Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A3KMC7|A8K110|Q4KMY1|Q5QNX0|Q9UE88	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.E114K	ENST00000369155.2	37	c.340	CCDS936.1	1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.600895	0.87055	.	.	ENSG00000184678	ENST00000369155	T	0.48201	0.82	5.92	5.92	0.95590	Histone-fold (2);	0.000000	0.85682	D	0.000000	T	0.40015	0.1100	M	0.78801	2.425	0.44985	D	0.998008	B	0.30406	0.278	B	0.17433	0.018	T	0.40813	-0.9543	10	0.52906	T	0.07	.	18.908	0.92471	0.0:1.0:0.0:0.0	.	114	Q16778	H2B2E_HUMAN	K	114	ENSP00000358151:E114K	ENSP00000358151:E114K	E	-	1	0	HIST2H2BE	148124475	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.984000	0.70548	2.810000	0.96702	0.585000	0.79938	GAG	HIST2H2BE	-	superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	ENSG00000184678		0.677	HIST2H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST2H2BE	HGNC	protein_coding	OTTHUMT00000033455.1	65	0.00	0	C	NM_003528		149857851	149857851	-1	no_errors	ENST00000369155	ensembl	human	known	69_37n	missense	81	28.95	33	SNP	1.000	T
KLRG2	346689	genome.wustl.edu	37	7	139138950	139138950	+	Missense_Mutation	SNP	C	C	G	rs17160911	byFrequency	TCGA-A2-A0EO-01A-11W-A050-09	TCGA-A2-A0EO-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8e2f9eb7-0660-47ae-b86e-652e99fa69ca	daf64f76-2c6e-4d95-a8d9-1e4034f8d529	g.chr7:139138950C>G	ENST00000340940.4	-	4	1085	c.1016G>C	c.(1015-1017)gGc>gCc	p.G339A	KLRG2_ENST00000393039.2_Intron	NM_198508.2	NP_940910.1	A4D1S0	KLRG2_HUMAN	killer cell lectin-like receptor subfamily G, member 2	339	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.		G -> A (in dbSNP:rs17160911).			integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|large_intestine(2)|lung(3)	6	Melanoma(164;0.233)					TGGGTATCTGCCCAGGAAGTC	0.667													C|||	877	0.17512	0.2088	0.1311	5008	,	,		14984	0.2113		0.1252	False		,,,				2504	0.1748					dbGAP											0													13.0	10.0	11.0					7																	139138950		1870	3571	5441	-	-	-	SO:0001583	missense	0			AK126174	CCDS5854.1	7q34	2011-08-30			ENSG00000188883	ENSG00000188883		"""Killer cell lectin-like receptors"", ""C-type lectin domain containing"""	24778	protein-coding gene	gene with protein product	"""C-type lectin domain family 15, member B"""						Standard	XM_005250311		Approved	FLJ44186, CLEC15B	uc003vvb.3	A4D1S0	OTTHUMG00000157705	ENST00000340940.4:c.1016G>C	7.37:g.139138950C>G	ENSP00000339356:p.Gly339Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2NL79|Q6ZTV6	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.G339A	ENST00000340940.4	37	c.1016	CCDS5854.1	7	340	0.15567765567765568	93	0.18902439024390244	46	0.1270718232044199	110	0.19230769230769232	91	0.12005277044854881	C	6.481	0.456958	0.12283	.	.	ENSG00000188883	ENST00000340940	T	0.16897	2.31	4.78	2.9	0.33743	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.692200	0.12721	N	0.444710	T	0.00012	0.0000	N	0.08118	0	0.20764	P	0.999855632	B	0.18166	0.026	B	0.19391	0.025	T	0.40942	-0.9536	9	0.07325	T	0.83	-8.5467	7.5752	0.27931	0.1896:0.6275:0.1829:0.0	rs17160911;rs17160911	339	A4D1S0	KLRG2_HUMAN	A	339	ENSP00000339356:G339A	ENSP00000339356:G339A	G	-	2	0	KLRG2	138789490	0.488000	0.25996	0.542000	0.28115	0.903000	0.53119	0.271000	0.18626	0.578000	0.29487	0.655000	0.94253	GGC	KLRG2	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000188883		0.667	KLRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLRG2	HGNC	protein_coding	OTTHUMT00000349433.1	8	0.00	0	C	NM_198508		139138950	139138950	-1	no_errors	ENST00000340940	ensembl	human	known	69_37n	missense	22	21.43	6	SNP	0.776	G
MACF1	23499	genome.wustl.edu	37	1	39853143	39853144	+	Frame_Shift_Del	DEL	TT	TT	-	rs150081691		TCGA-A2-A0EO-01A-11W-A050-09	TCGA-A2-A0EO-10A-01W-A055-09	TT	TT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8e2f9eb7-0660-47ae-b86e-652e99fa69ca	daf64f76-2c6e-4d95-a8d9-1e4034f8d529	g.chr1:39853143_39853144delTT	ENST00000372915.3	+	57	14731_14732	c.14644_14645delTT	c.(14644-14646)ttgfs	p.L4882fs	MACF1_ENST00000289893.4_Frame_Shift_Del_p.L3317fs|MACF1_ENST00000539005.1_Frame_Shift_Del_p.L2794fs|MACF1_ENST00000564288.1_Frame_Shift_Del_p.L4877fs|MACF1_ENST00000567887.1_Frame_Shift_Del_p.L4914fs|MACF1_ENST00000545844.1_Frame_Shift_Del_p.L2815fs|MACF1_ENST00000317713.7_Frame_Shift_Del_p.L2815fs|MACF1_ENST00000361689.2_Frame_Shift_Del_p.L2815fs			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4882					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)			ACAAAACCAGTTGGTTGAGCTC	0.431																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			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.14644_14645delTT	1.37:g.39853143_39853144delTT	ENSP00000362006:p.Leu4882fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Frame_Shift_Del	DEL	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.L2815fs	ENST00000372915.3	37	c.8443_8444		1																																																																																			MACF1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000127603		0.431	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	58	0.00	0	TT	NM_033044		39853143	39853144	+1	no_errors	ENST00000317713	ensembl	human	known	69_37n	frame_shift_del	105	55.28	136	DEL	0.984:1.000	-
MDC1	9656	genome.wustl.edu	37	6	30673105	30673105	+	Silent	SNP	C	C	G	rs61741916	byFrequency	TCGA-A2-A0EO-01A-11W-A050-09	TCGA-A2-A0EO-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8e2f9eb7-0660-47ae-b86e-652e99fa69ca	daf64f76-2c6e-4d95-a8d9-1e4034f8d529	g.chr6:30673105C>G	ENST00000376406.3	-	10	4502	c.3855G>C	c.(3853-3855)gtG>gtC	p.V1285V	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Silent_p.V1021V	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1285	Interaction with the PRKDC complex.|Pro-rich.			Missing (in Ref. 2; CAH18685). {ECO:0000305}.	DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						GGGCTGTGGGCACAACTGGTT	0.562								Other conserved DNA damage response genes																														dbGAP											0													133.0	149.0	144.0					6																	30673105		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.3855G>C	6.37:g.30673105C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Silent	SNP	pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom	p.V1285	ENST00000376406.3	37	c.3855	CCDS34384.1	6																																																																																			MDC1	-	NULL	ENSG00000137337		0.562	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDC1	HGNC	protein_coding	OTTHUMT00000076103.1	62	0.00	0	C	NM_014641		30673105	30673105	-1	no_errors	ENST00000376406	ensembl	human	known	69_37n	silent	169	17.56	36	SNP	0.000	G
MGA	23269	genome.wustl.edu	37	15	42041007	42041007	+	Silent	SNP	A	A	T			TCGA-A2-A0EO-01A-11W-A050-09	TCGA-A2-A0EO-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8e2f9eb7-0660-47ae-b86e-652e99fa69ca	daf64f76-2c6e-4d95-a8d9-1e4034f8d529	g.chr15:42041007A>T	ENST00000570161.1	+	15	5385	c.5385A>T	c.(5383-5385)ccA>ccT	p.P1795P	MGA_ENST00000389936.4_Intron|MGA_ENST00000219905.7_Silent_p.P1795P|MGA_ENST00000566586.1_Silent_p.P1586P|MGA_ENST00000545763.1_Silent_p.P1586P			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTAGGAGTCCAAGTGGAATGA	0.493																																						dbGAP											0													126.0	121.0	122.0					15																	42041007		1985	4178	6163	-	-	-	SO:0001819	synonymous_variant	0			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.5385A>T	15.37:g.42041007A>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VAX6|Q75ME7|Q86UM5	Nonsense_Mutation	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.K443*	ENST00000570161.1	37	c.1327	CCDS55959.1	15																																																																																			MGA	-	NULL	ENSG00000174197		0.493	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	76	0.00	0	A	NM_001164273.1		42041007	42041007	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000564190	ensembl	human	novel	69_37n	nonsense	124	22.01	35	SNP	1.000	T
MR1	3140	genome.wustl.edu	37	1	181021547	181021547	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A2-A0EO-01A-11W-A050-09	TCGA-A2-A0EO-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8e2f9eb7-0660-47ae-b86e-652e99fa69ca	daf64f76-2c6e-4d95-a8d9-1e4034f8d529	g.chr1:181021547C>T	ENST00000367580.5	+	4	786	c.781C>T	c.(781-783)Cag>Tag	p.Q261*	MR1_ENST00000282990.6_Intron|MR1_ENST00000438435.2_Intron|MR1_ENST00000367579.3_Nonsense_Mutation_p.Q216*|MR1_ENST00000434571.2_Intron	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	261	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	MHC class I receptor activity (GO:0032393)|peptide antigen binding (GO:0042605)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18					Antithymocyte globulin(DB00098)	TGGAACCTATCAGGCGTGGGC	0.488																																					Colon(174;1412 1962 45296 46549 47110)	dbGAP											0													72.0	75.0	74.0					1																	181021547		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF010446	CCDS1342.1, CCDS53440.1, CCDS53441.1, CCDS53442.1	1q25.3	2013-01-11	2003-03-05	2003-03-07	ENSG00000153029	ENSG00000153029		"""Immunoglobulin superfamily / C1-set domain containing"""	4975	protein-coding gene	gene with protein product		600764	"""major histocompatibility complex, class I-like sequence"""	HLALS		7624800, 9784382	Standard	NM_001194999		Approved		uc001goq.2	Q95460	OTTHUMG00000035175	ENST00000367580.5:c.781C>T	1.37:g.181021547C>T	ENSP00000356552:p.Gln261*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2V9|B4E3B1|O97985|O97986|Q53GM1|Q95HB8|Q9MY23|Q9NPL2|Q9TQB3|Q9TQB9|Q9TQK3	Nonsense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,prints_MHC_I_a_a1/a2,pfscan_Ig-like	p.Q261*	ENST00000367580.5	37	c.781	CCDS1342.1	1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.720367	0.68959	.	.	ENSG00000153029	ENST00000367580;ENST00000367579	.	.	.	4.31	3.4	0.38934	.	0.377722	0.22847	N	0.054912	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.0657	0.42301	0.0:0.9008:0.0:0.0992	.	.	.	.	X	261;216	.	ENSP00000356551:Q216X	Q	+	1	0	MR1	179288170	1.000000	0.71417	0.943000	0.38184	0.593000	0.36681	2.199000	0.42715	1.029000	0.39812	0.655000	0.94253	CAG	MR1	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like	ENSG00000153029		0.488	MR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MR1	HGNC	protein_coding	OTTHUMT00000085134.2	43	0.00	0	C	NM_001531		181021547	181021547	+1	no_errors	ENST00000367580	ensembl	human	known	69_37n	nonsense	63	20.25	16	SNP	1.000	T
MYH13	8735	genome.wustl.edu	37	17	10236473	10236473	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0EO-01A-11W-A050-09	TCGA-A2-A0EO-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8e2f9eb7-0660-47ae-b86e-652e99fa69ca	daf64f76-2c6e-4d95-a8d9-1e4034f8d529	g.chr17:10236473G>A	ENST00000418404.3	-	18	2255	c.2092C>T	c.(2092-2094)Cgc>Tgc	p.R698C	MYH13_ENST00000252172.4_Missense_Mutation_p.R698C|RP11-401O9.3_ENST00000577743.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	698	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CCGTTACAGCGCAGCTGGTGC	0.577																																						dbGAP											0													28.0	33.0	31.0					17																	10236473		1927	3907	5834	-	-	-	SO:0001583	missense	0			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.2092C>T	17.37:g.10236473G>A	ENSP00000404570:p.Arg698Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	O95252|Q9P0U8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.R698C	ENST00000418404.3	37	c.2092	CCDS45613.1	17	.	.	.	.	.	.	.	.	.	.	G	21.5	4.157304	0.78114	.	.	ENSG00000006788	ENST00000252172;ENST00000418404	D	0.88896	-2.44	4.21	4.21	0.49690	Myosin head, motor domain (2);	.	.	.	.	D	0.96953	0.9005	H	0.99357	4.53	0.53688	D	0.999977	D	0.69078	0.997	D	0.70935	0.971	D	0.99016	1.0816	9	0.87932	D	0	.	17.1181	0.86694	0.0:0.0:1.0:0.0	.	698	Q9UKX3	MYH13_HUMAN	C	698;373	ENSP00000252172:R698C	ENSP00000252172:R698C	R	-	1	0	MYH13	10177198	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	1.219000	0.32479	2.333000	0.79357	0.561000	0.74099	CGC	MYH13	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000006788		0.577	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYH13	HGNC	protein_coding	OTTHUMT00000442255.1	126	0.00	0	G	NM_003802		10236473	10236473	-1	no_errors	ENST00000252172	ensembl	human	known	69_37n	missense	39	40.91	27	SNP	1.000	A
PDE3A	5139	genome.wustl.edu	37	12	20782980	20782980	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0EO-01A-11W-A050-09	TCGA-A2-A0EO-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8e2f9eb7-0660-47ae-b86e-652e99fa69ca	daf64f76-2c6e-4d95-a8d9-1e4034f8d529	g.chr12:20782980G>A	ENST00000359062.3	+	6	1719	c.1679G>A	c.(1678-1680)gGt>gAt	p.G560D	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	560					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	CAAAGCCTAGGTTCTCACAGG	0.488																																						dbGAP											0													151.0	151.0	151.0					12																	20782980		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.1679G>A	12.37:g.20782980G>A	ENSP00000351957:p.Gly560Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	O60865|Q13348|Q17RD1	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	p.G560D	ENST00000359062.3	37	c.1679	CCDS31754.1	12	.	.	.	.	.	.	.	.	.	.	G	3.528	-0.096390	0.07010	.	.	ENSG00000172572	ENST00000359062	T	0.56611	0.45	5.44	3.58	0.41010	.	1.625750	0.02935	N	0.139666	T	0.44912	0.1316	L	0.43152	1.355	0.09310	N	1	B	0.15473	0.013	B	0.14023	0.01	T	0.24657	-1.0154	10	0.12430	T	0.62	.	6.423	0.21754	0.1116:0.3473:0.5411:0.0	.	560	Q14432	PDE3A_HUMAN	D	560	ENSP00000351957:G560D	ENSP00000351957:G560D	G	+	2	0	PDE3A	20674247	0.450000	0.25697	0.234000	0.24042	0.040000	0.13550	1.734000	0.38166	0.824000	0.34613	-0.172000	0.13284	GGT	PDE3A	-	NULL	ENSG00000172572		0.488	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE3A	HGNC	protein_coding	OTTHUMT00000401756.2	108	0.00	0	G			20782980	20782980	+1	no_errors	ENST00000359062	ensembl	human	known	69_37n	missense	137	18.34	31	SNP	0.013	A
PIK3CA	5290	genome.wustl.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-A2-A0EO-01A-11W-A050-09	TCGA-A2-A0EO-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8e2f9eb7-0660-47ae-b86e-652e99fa69ca	daf64f76-2c6e-4d95-a8d9-1e4034f8d529	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	555	Substitution - Missense(555)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)											56.0	56.0	56.0					3																	178936082		1809	4069	5878	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E542K	ENST00000263967.3	37	c.1624	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	93	0.00	0	G			178936082	178936082	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	101	29.37	42	SNP	1.000	A
PLA2G12B	84647	genome.wustl.edu	37	10	74714297	74714297	+	Silent	SNP	G	G	A			TCGA-A2-A0EO-01A-11W-A050-09	TCGA-A2-A0EO-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8e2f9eb7-0660-47ae-b86e-652e99fa69ca	daf64f76-2c6e-4d95-a8d9-1e4034f8d529	g.chr10:74714297G>A	ENST00000373032.3	-	1	239	c.147C>T	c.(145-147)taC>taT	p.Y49Y		NM_032562.2	NP_115951.2	Q9BX93	PG12B_HUMAN	phospholipase A2, group XIIB	49					cholesterol homeostasis (GO:0042632)|lipid catabolic process (GO:0016042)|triglyceride homeostasis (GO:0070328)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	9	Prostate(51;0.0198)					AAGAATCGAAGTAGCTATTGA	0.537																																						dbGAP											0													147.0	154.0	151.0					10																	74714297		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF349540	CCDS7319.1	10q22.1	2008-09-19	2004-01-13	2004-01-14	ENSG00000138308	ENSG00000138308	3.1.1.4		18555	protein-coding gene	gene with protein product		611653	"""phospholipase A2, group XIII"""	PLA2G13			Standard	NM_032562		Approved		uc001jtf.1	Q9BX93	OTTHUMG00000018446	ENST00000373032.3:c.147C>T	10.37:g.74714297G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZL23|Q52LB2|Q96Q99	Silent	SNP	pfam_PLipase_A2_secretory_G12,superfamily_PLipase_A2	p.Y49	ENST00000373032.3	37	c.147	CCDS7319.1	10																																																																																			PLA2G12B	-	pfam_PLipase_A2_secretory_G12	ENSG00000138308		0.537	PLA2G12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G12B	HGNC	protein_coding	OTTHUMT00000048598.1	64	0.00	0	G	NM_032562		74714297	74714297	-1	no_errors	ENST00000373032	ensembl	human	known	69_37n	silent	60	24.05	19	SNP	1.000	A
PNLIPRP3	119548	genome.wustl.edu	37	10	118202578	118202578	+	Silent	SNP	G	G	A			TCGA-A2-A0EO-01A-11W-A050-09	TCGA-A2-A0EO-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8e2f9eb7-0660-47ae-b86e-652e99fa69ca	daf64f76-2c6e-4d95-a8d9-1e4034f8d529	g.chr10:118202578G>A	ENST00000369230.3	+	3	362	c.216G>A	c.(214-216)gcG>gcA	p.A72A		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	72					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)	p.A72A(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		AGATCAGTGCGGTTAATTCTT	0.363																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											77.0	70.0	72.0					10																	118202578		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.216G>A	10.37:g.118202578G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase,prints_Lipase_panc	p.A72	ENST00000369230.3	37	c.216	CCDS31292.1	10																																																																																			PNLIPRP3	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH	ENSG00000203837		0.363	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNLIPRP3	HGNC	protein_coding	OTTHUMT00000050520.1	74	0.00	0	G	XM_058404		118202578	118202578	+1	no_errors	ENST00000369230	ensembl	human	known	69_37n	silent	61	29.55	26	SNP	0.419	A
RAD51AP1	10635	genome.wustl.edu	37	12	4662226	4662226	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A0EO-01A-11W-A050-09	TCGA-A2-A0EO-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8e2f9eb7-0660-47ae-b86e-652e99fa69ca	daf64f76-2c6e-4d95-a8d9-1e4034f8d529	g.chr12:4662226G>T	ENST00000544927.1	+	7	644	c.634G>T	c.(634-636)Gtt>Ttt	p.V212F	RAD51AP1_ENST00000543041.1_Missense_Mutation_p.V94F|RAD51AP1_ENST00000544931.1_3'UTR|RAD51AP1_ENST00000321524.7_Missense_Mutation_p.V229F|RAD51AP1_ENST00000352618.4_Missense_Mutation_p.V212F|RAD51AP1_ENST00000228843.9_Missense_Mutation_p.V229F					RAD51 associated protein 1											breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			AAAAAGTAAAGTTAAAGAAAT	0.323																																						dbGAP											0													58.0	62.0	61.0					12																	4662226		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF006259	CCDS8529.1, CCDS44805.1	12p13.2-p13.1	2004-09-16			ENSG00000111247	ENSG00000111247			16956	protein-coding gene	gene with protein product		603070				9396801	Standard	NM_001130862		Approved	PIR51	uc001qmw.3	Q96B01	OTTHUMG00000168125	ENST00000544927.1:c.634G>T	12.37:g.4662226G>T	ENSP00000446296:p.Val212Phe	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.V229F	ENST00000544927.1	37	c.685		12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.97|14.97	2.694434|2.694434	0.48202|0.48202	.|.	.|.	ENSG00000111247|ENSG00000111247	ENST00000536117|ENST00000321524;ENST00000543041;ENST00000228843;ENST00000352618;ENST00000544927	.|T;T;T;T;T	.|0.44482	.|1.53;1.53;0.92;0.92;1.53	4.61|4.61	3.69|3.69	0.42338|0.42338	.|.	.|0.531858	.|0.16834	.|N	.|0.197629	T|T	0.53367|0.53367	0.1792|0.1792	L|L	0.59436|0.59436	1.845|1.845	0.24701|0.24701	N|N	0.993254|0.993254	.|D;D;D;D	.|0.61080	.|0.989;0.987;0.987;0.963	.|P;P;P;P	.|0.61201	.|0.885;0.775;0.775;0.735	T|T	0.38628|0.38628	-0.9652|-0.9652	5|10	.|0.54805	.|T	.|0.06	-0.5105|-0.5105	9.1683|9.1683	0.37065|0.37065	0.1092:0.0:0.8908:0.0|0.1092:0.0:0.8908:0.0	.|.	.|94;229;229;212	.|B4DUS5;Q96B01;A8K313;Q96B01-2	.|.;R51A1_HUMAN;.;.	I|F	206|229;94;229;212;212	.|ENSP00000323750:V229F;ENSP00000439960:V94F;ENSP00000228843:V229F;ENSP00000309479:V212F;ENSP00000446296:V212F	.|ENSP00000228843:V229F	S|V	+|+	2|1	0|0	RAD51AP1|RAD51AP1	4532487|4532487	0.997000|0.997000	0.39634|0.39634	0.998000|0.998000	0.56505|0.56505	0.985000|0.985000	0.73830|0.73830	1.885000|1.885000	0.39678|0.39678	2.256000|2.256000	0.74724|0.74724	0.655000|0.655000	0.94253|0.94253	AGT|GTT	RAD51AP1	-	NULL	ENSG00000111247		0.323	RAD51AP1-012	PUTATIVE	basic|exp_conf	protein_coding	RAD51AP1	HGNC	protein_coding	OTTHUMT00000399208.1	224	0.00	0	G	NM_006479		4662226	4662226	+1	no_errors	ENST00000228843	ensembl	human	known	69_37n	missense	207	30.54	91	SNP	0.993	T
RHOQ	23433	genome.wustl.edu	37	2	46770905	46770906	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A2-A0EO-01A-11W-A050-09	TCGA-A2-A0EO-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8e2f9eb7-0660-47ae-b86e-652e99fa69ca	daf64f76-2c6e-4d95-a8d9-1e4034f8d529	g.chr2:46770905_46770906insG	ENST00000238738.4	+	2	474_475	c.155_156insG	c.(154-159)gtggggfs	p.VG52fs	ATP6V1E2_ENST00000505245.2_5'Flank|RHOQ_ENST00000465198.1_Intron|ATP6V1E2_ENST00000522587.1_5'Flank	NM_012249.3	NP_036381.2	P17081	RHOQ_HUMAN	ras homolog family member Q	52					cellular response to insulin stimulus (GO:0032869)|cortical actin cytoskeleton organization (GO:0030866)|GTP catabolic process (GO:0006184)|insulin receptor signaling pathway (GO:0008286)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin filament (GO:0005884)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	GBD domain binding (GO:0032427)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|profilin binding (GO:0005522)			skin(2)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			AGCGTCACCGTGGGGGGCAAGC	0.639																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			M31470	CCDS33191.1	2p21	2012-02-27	2012-02-27	2004-03-24	ENSG00000119729	ENSG00000119729			17736	protein-coding gene	gene with protein product		605857	"""RAS-like, family 7, member A"", ""ras homolog gene family, member Q"""	RASL7A, ARHQ		2108320	Standard	NM_012249		Approved	TC10	uc002rva.3	P17081	OTTHUMG00000150653	ENST00000238738.4:c.161dupG	2.37:g.46770911_46770911dupG	ENSP00000238738:p.Val52fs	Somatic		WXS	Illumina GAIIx	Phase_IV	D6W5A6|Q0VGN1|Q52LS8|Q53SJ1|Q6NS39|Q6P146|Q7Z480	Frame_Shift_Ins	INS	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.K55fs	ENST00000238738.4	37	c.155_156	CCDS33191.1	2																																																																																			RHOQ	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000119729		0.639	RHOQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOQ	HGNC	protein_coding	OTTHUMT00000319409.1	42	0.00	0	-	NM_012249		46770905	46770906	+1	no_errors	ENST00000238738	ensembl	human	known	69_37n	frame_shift_ins	19	17.39	4	INS	1.000:0.949	G
SAPCD2	89958	genome.wustl.edu	37	9	139959191	139959192	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-A2-A0EO-01A-11W-A050-09	TCGA-A2-A0EO-10A-01W-A055-09	AC	AC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8e2f9eb7-0660-47ae-b86e-652e99fa69ca	daf64f76-2c6e-4d95-a8d9-1e4034f8d529	g.chr9:139959191_139959192delAC	ENST00000409687.3	-	6	1231_1232	c.1104_1105delGT	c.(1102-1107)aagtcgfs	p.KS368fs	RP11-229P13.22_ENST00000435463.2_RNA|RP11-229P13.23_ENST00000456356.2_RNA	NM_178448.3	NP_848543.2	Q86UD0	SAPC2_HUMAN	suppressor APC domain containing 2	368						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)											ATGAGCGCCGACTTCTCCTGCT	0.653											OREG0019628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC024299	CCDS7027.2	9q34.3	2012-02-08	2012-02-08	2012-02-08	ENSG00000186193	ENSG00000186193			28055	protein-coding gene	gene with protein product		612057	"""chromosome 9 open reading frame 140"""	C9orf140		12477932	Standard	NM_178448		Approved	p42.3	uc011men.2	Q86UD0	OTTHUMG00000020961	ENST00000409687.3:c.1104_1105delGT	9.37:g.139959191_139959192delAC	ENSP00000386348:p.Lys368fs	Somatic	1652	WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	NULL	p.K368fs	ENST00000409687.3	37	c.1105_1104	CCDS7027.2	9																																																																																			SAPCD2	-	NULL	ENSG00000186193		0.653	SAPCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAPCD2	HGNC	protein_coding	OTTHUMT00000055215.2	26	0.00	0	AC	NM_178448		139959191	139959192	-1	no_errors	ENST00000409687	ensembl	human	known	69_37n	frame_shift_del	10	54.55	12	DEL	0.982:0.988	-
SH3D19	152503	genome.wustl.edu	37	4	152086824	152086824	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0EO-01A-11W-A050-09	TCGA-A2-A0EO-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8e2f9eb7-0660-47ae-b86e-652e99fa69ca	daf64f76-2c6e-4d95-a8d9-1e4034f8d529	g.chr4:152086824G>A	ENST00000409252.2	-	7	1426	c.719C>T	c.(718-720)aCa>aTa	p.T240I	SH3D19_ENST00000514152.1_Missense_Mutation_p.T240I|SH3D19_ENST00000424281.1_Intron|SH3D19_ENST00000427414.2_Intron|SH3D19_ENST00000409598.4_Missense_Mutation_p.T240I|SH3D19_ENST00000455740.1_Missense_Mutation_p.T240I|SH3D19_ENST00000304527.4_Missense_Mutation_p.T240I			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	240	Pro-rich.				cytoskeleton organization (GO:0007010)|membrane organization (GO:0061024)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of cell morphogenesis (GO:0022604)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TATTGGTTCTGTTTTTGCAGG	0.383																																						dbGAP											0													227.0	195.0	206.0					4																	152086824		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX647422	CCDS34077.2, CCDS47143.1, CCDS47144.1	4q31.3	2009-03-05	2009-03-05	2009-03-05	ENSG00000109686	ENSG00000109686			30418	protein-coding gene	gene with protein product	"""EEN binding protein"""	608674				12477932	Standard	NM_001009555		Approved	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19	uc010ipl.1	Q5HYK7	OTTHUMG00000154051	ENST00000409252.2:c.719C>T	4.37:g.152086824G>A	ENSP00000386848:p.Thr240Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,prints_p67phox,prints_SH3_domain,pfscan_SH3_domain	p.T240I	ENST00000409252.2	37	c.719	CCDS34077.2	4	.	.	.	.	.	.	.	.	.	.	G	9.309	1.055169	0.19907	.	.	ENSG00000109686	ENST00000409598;ENST00000304527;ENST00000455740;ENST00000409252;ENST00000514152	T;T;T;T;T	0.70869	-0.52;0.14;-0.52;0.14;-0.52	6.02	5.16	0.70880	.	1.826270	0.02445	N	0.085031	T	0.66005	0.2746	L	0.46157	1.445	0.80722	D	1	B;B;B	0.21147	0.011;0.052;0.024	B;B;B	0.14578	0.005;0.011;0.008	T	0.55283	-0.8165	10	0.36615	T	0.2	-8.4557	5.6379	0.17546	0.0674:0.1231:0.5587:0.2509	.	240;240;18	Q5HYK7;Q5HYK7-2;B3KY23	SH319_HUMAN;.;.	I	240	ENSP00000387030:T240I;ENSP00000302913:T240I;ENSP00000416708:T240I;ENSP00000386848:T240I;ENSP00000423449:T240I	ENSP00000302913:T240I	T	-	2	0	SH3D19	152306274	0.985000	0.35326	1.000000	0.80357	0.937000	0.57800	0.526000	0.22971	1.519000	0.48950	0.655000	0.94253	ACA	SH3D19	-	NULL	ENSG00000109686		0.383	SH3D19-002	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	SH3D19	HGNC	protein_coding	OTTHUMT00000335132.3	513	0.00	0	G	NM_001009555		152086824	152086824	-1	no_errors	ENST00000304527	ensembl	human	known	69_37n	missense	751	10.27	86	SNP	0.990	A
SLC25A30	253512	genome.wustl.edu	37	13	45971426	45971426	+	Silent	SNP	T	T	A			TCGA-A2-A0EO-01A-11W-A050-09	TCGA-A2-A0EO-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8e2f9eb7-0660-47ae-b86e-652e99fa69ca	daf64f76-2c6e-4d95-a8d9-1e4034f8d529	g.chr13:45971426T>A	ENST00000539591.1	-	8	811	c.648A>T	c.(646-648)ccA>ccT	p.P216P				Q5SVS4	KMCP1_HUMAN	solute carrier family 25, member 30	267					mitochondrial transport (GO:0006839)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.95e-05)		TCAACCAATTTGGCCAAAAGC	0.318																																						dbGAP											0													71.0	73.0	72.0					13																	45971426		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK074457	CCDS31967.1, CCDS66539.1	13q14	2013-05-22			ENSG00000174032	ENSG00000174032		"""Solute carriers"""	27371	protein-coding gene	gene with protein product		610793					Standard	XM_005266321		Approved		uc001vag.3	Q5SVS4	OTTHUMG00000016853	ENST00000539591.1:c.648A>T	13.37:g.45971426T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN96|B4DZK3|F5H8H8	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling,prints_Mit_carrier	p.P267	ENST00000539591.1	37	c.801		13																																																																																			SLC25A30	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000174032		0.318	SLC25A30-201	KNOWN	basic	protein_coding	SLC25A30	HGNC	protein_coding		64	0.00	0	T	XM_170736		45971426	45971426	-1	no_errors	ENST00000519676	ensembl	human	known	69_37n	silent	98	15.52	18	SNP	0.969	A
AL133247.2	0	genome.wustl.edu	37	2	31754498	31754498	+	RNA	SNP	T	T	C			TCGA-A2-A0EO-01A-11W-A050-09	TCGA-A2-A0EO-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8e2f9eb7-0660-47ae-b86e-652e99fa69ca	daf64f76-2c6e-4d95-a8d9-1e4034f8d529	g.chr2:31754498T>C	ENST00000435713.1	+	0	255				SRD5A2_ENST00000405650.1_RNA																							CCGAGGAAATTGGCTCCAGAA	0.458																																						dbGAP											0													70.0	69.0	69.0					2																	31754498		1959	4157	6116	-	-	-			0																															2.37:g.31754498T>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000435713.1	37	NULL		2																																																																																			SRD5A2	-	-	ENSG00000049319		0.458	AL133247.2-001	KNOWN	basic|exp_conf	antisense	SRD5A2	HGNC	antisense	OTTHUMT00000325125.1	139	0.00	0	T			31754498	31754498	-1	no_errors	ENST00000233139	ensembl	human	known	69_37n	rna	99	34.42	53	SNP	1.000	C
SRBD1	55133	genome.wustl.edu	37	2	45704138	45704138	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0EO-01A-11W-A050-09	TCGA-A2-A0EO-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8e2f9eb7-0660-47ae-b86e-652e99fa69ca	daf64f76-2c6e-4d95-a8d9-1e4034f8d529	g.chr2:45704138C>T	ENST00000263736.4	-	16	2105	c.2043G>A	c.(2041-2043)atG>atA	p.M681I	SRBD1_ENST00000535761.1_Missense_Mutation_p.M200I	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	681					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TTACCTGATACATTCCAACTC	0.378																																						dbGAP											0													128.0	107.0	114.0					2																	45704138		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.2043G>A	2.37:g.45704138C>T	ENSP00000263736:p.Met681Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	pfam_Tex-like_N,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold-like,superfamily_RuvA_2-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.M681I	ENST00000263736.4	37	c.2043	CCDS1823.1	2	.	.	.	.	.	.	.	.	.	.	C	18.21	3.574615	0.65878	.	.	ENSG00000068784	ENST00000263736;ENST00000535761	T;T	0.30714	1.9;1.52	5.77	5.77	0.91146	Tex-like domain (1);	0.048324	0.85682	D	0.000000	T	0.37293	0.0998	M	0.76574	2.34	0.43234	D	0.99513	P	0.44816	0.844	B	0.36666	0.23	T	0.44651	-0.9314	10	0.72032	D	0.01	.	18.9731	0.92722	0.0:1.0:0.0:0.0	.	681	Q8N5C6	SRBD1_HUMAN	I	681;200	ENSP00000263736:M681I;ENSP00000441272:M200I	ENSP00000263736:M681I	M	-	3	0	SRBD1	45557642	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.231000	0.43009	2.720000	0.93068	0.591000	0.81541	ATG	SRBD1	-	NULL	ENSG00000068784		0.378	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRBD1	HGNC	protein_coding	OTTHUMT00000250747.3	164	0.00	0	C	NM_018079		45704138	45704138	-1	no_errors	ENST00000263736	ensembl	human	known	69_37n	missense	203	13.62	32	SNP	1.000	T
TRAK1	22906	genome.wustl.edu	37	3	42226205	42226205	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0EO-01A-11W-A050-09	TCGA-A2-A0EO-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8e2f9eb7-0660-47ae-b86e-652e99fa69ca	daf64f76-2c6e-4d95-a8d9-1e4034f8d529	g.chr3:42226205G>A	ENST00000327628.5	+	4	792	c.392G>A	c.(391-393)cGc>cAc	p.R131H	TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Missense_Mutation_p.R73H|TRAK1_ENST00000341421.3_Missense_Mutation_p.R73H|TRAK1_ENST00000449246.1_Missense_Mutation_p.R57H	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	131	HAP1 N-terminal.				endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						TTGGCCGCTCGCATCGGCCAG	0.502																																					GBM(44;195 884 22595 31865 41850)	dbGAP											0													104.0	107.0	106.0					3																	42226205		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"""OGT(O Glc NAc transferase) interacting protein 106 KDa"", ""O-linked N-acetylglucosamine transferase interacting protein 106"", ""milton homolog 1 (Drosophila)"""	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.392G>A	3.37:g.42226205G>A	ENSP00000328998:p.Arg131His	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Missense_Mutation	SNP	pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom	p.R73H	ENST00000327628.5	37	c.218	CCDS43072.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.604943	0.96626	.	.	ENSG00000182606	ENST00000327628;ENST00000543338;ENST00000449246;ENST00000396175;ENST00000341421	T;T;T;T	0.20598	2.06;2.06;2.06;2.06	4.96	4.96	0.65561	.	0.127415	0.52532	D	0.000070	T	0.48040	0.1478	M	0.76574	2.34	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;0.999;0.999;0.999;1.0;1.0	D;D;D;D;D;D	0.72075	0.916;0.91;0.964;0.917;0.97;0.976	T	0.51309	-0.8722	10	0.72032	D	0.01	.	17.6312	0.88108	0.0:0.0:1.0:0.0	.	57;73;131;73;57;131	B7Z218;C9JC32;B7Z347;Q9UPV9-2;E9PDS2;Q9UPV9	.;.;.;.;.;TRAK1_HUMAN	H	131;131;57;73;73	ENSP00000328998:R131H;ENSP00000410717:R57H;ENSP00000379478:R73H;ENSP00000340702:R73H	ENSP00000328998:R131H	R	+	2	0	TRAK1	42201209	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	7.759000	0.85235	2.458000	0.83093	0.632000	0.83419	CGC	TRAK1	-	pfam_HAP1_N	ENSG00000182606		0.502	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	TRAK1	HGNC	protein_coding	OTTHUMT00000343413.1	128	0.00	0	G	NM_014965		42226205	42226205	+1	no_errors	ENST00000396175	ensembl	human	known	69_37n	missense	98	20.33	25	SNP	1.000	A
ZNF471	57573	genome.wustl.edu	37	19	57036477	57036477	+	Missense_Mutation	SNP	A	A	T			TCGA-A2-A0EO-01A-11W-A050-09	TCGA-A2-A0EO-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8e2f9eb7-0660-47ae-b86e-652e99fa69ca	daf64f76-2c6e-4d95-a8d9-1e4034f8d529	g.chr19:57036477A>T	ENST00000308031.5	+	5	1174	c.1041A>T	c.(1039-1041)gaA>gaT	p.E347D	ZNF471_ENST00000591537.1_Missense_Mutation_p.N207I|ZNF471_ENST00000593197.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	347					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		GACCCTATGAATGTATTGAGT	0.413																																					Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)	dbGAP											0													54.0	58.0	57.0					19																	57036477		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"""Zinc fingers, C2H2-type"", ""-"""	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.1041A>T	19.37:g.57036477A>T	ENSP00000309161:p.Glu347Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E347D	ENST00000308031.5	37	c.1041	CCDS12945.1	19	.	.	.	.	.	.	.	.	.	.	A	15.70	2.911627	0.52439	.	.	ENSG00000196263	ENST00000308031	T	0.22134	1.97	3.85	-0.41	0.12374	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15176	0.0366	L	0.35854	1.095	0.09310	N	1	B	0.22604	0.072	B	0.26202	0.067	T	0.31943	-0.9925	9	0.59425	D	0.04	.	4.6227	0.12463	0.5897:0.1576:0.2527:0.0	.	347	Q9BX82	ZN471_HUMAN	D	347	ENSP00000309161:E347D	ENSP00000309161:E347D	E	+	3	2	ZNF471	61728289	0.000000	0.05858	0.988000	0.46212	0.987000	0.75469	-1.149000	0.03182	-0.020000	0.14032	0.379000	0.24179	GAA	ZNF471	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196263		0.413	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF471	HGNC	protein_coding	OTTHUMT00000458405.1	17	0.00	0	A	NM_020813		57036477	57036477	+1	no_errors	ENST00000308031	ensembl	human	known	69_37n	missense	29	27.50	11	SNP	0.043	T
