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	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	ref_context	gc_content	COSMIC_n_overlapping_mutations	ESP_AvgAAsampleReadDepth	ESP_AvgEAsampleReadDepth	ESP_AvgSampleReadDepth	ESP_Chromosome	ESP_Position	ESP_TotalAAsamplesCovered	ESP_TotalEAsamplesCovered	ESP_TotalSamplesCovered	Ensembl_so_accession	Ensembl_so_term	HGNC_AccessionNumbers	HGNC_CCDSIDs	HGNC_Chromosome	HGNC_DateModified	HGNC_DateNameChanged	HGNC_DateSymbolChanged	HGNC_EnsemblGeneID	HGNC_EnsemblIDsuppliedbyEnsembl	HGNC_Genefamilydescription	HGNC_HGNCID	HGNC_LocusGroup	HGNC_LocusType	HGNC_NameSynonyms	HGNC_OMIMIDsuppliedbyNCBI	HGNC_PreviousNames	HGNC_PreviousSymbols	HGNC_PubmedIDs	HGNC_RecordType	HGNC_RefSeqsuppliedbyNCBI	HGNC_Status	HGNC_Synonyms	HGNC_UCSCIDsuppliedbyUCSC	HGNC_UniProtIDsuppliedbyUniProt	HGNC_VEGAIDs	HGVS_coding_DNA_change	HGVS_genomic_change	HGVS_protein_change	UniProt_alt_uniprot_accessions	annotation_transcript	build	ccds_id	dbNSFP_1000Gp1_AC	dbNSFP_1000Gp1_AF	dbNSFP_1000Gp1_AFR_AC	dbNSFP_1000Gp1_AFR_AF	dbNSFP_1000Gp1_AMR_AC	dbNSFP_1000Gp1_AMR_AF	dbNSFP_1000Gp1_ASN_AC	dbNSFP_1000Gp1_ASN_AF	dbNSFP_1000Gp1_EUR_AC	dbNSFP_1000Gp1_EUR_AF	dbNSFP_Ancestral_allele	dbNSFP_CADD_phred	dbNSFP_CADD_raw	dbNSFP_CADD_raw_rankscore	dbNSFP_ESP6500_AA_AF	dbNSFP_ESP6500_EA_AF	dbNSFP_Ensembl_geneid	dbNSFP_Ensembl_transcriptid	dbNSFP_FATHMM_pred	dbNSFP_FATHMM_rankscore	dbNSFP_FATHMM_score	dbNSFP_GERP_NR	dbNSFP_GERP_RS	dbNSFP_GERP_RS_rankscore	dbNSFP_Interpro_domain	dbNSFP_LRT_Omega	dbNSFP_LRT_converted_rankscore	dbNSFP_LRT_pred	dbNSFP_LRT_score	dbNSFP_LR_pred	dbNSFP_LR_rankscore	dbNSFP_LR_score	dbNSFP_MutationAssessor_pred	dbNSFP_MutationAssessor_rankscore	dbNSFP_MutationAssessor_score	dbNSFP_MutationTaster_converted_rankscore	dbNSFP_MutationTaster_pred	dbNSFP_MutationTaster_score	dbNSFP_Polyphen2_HDIV_pred	dbNSFP_Polyphen2_HDIV_rankscore	dbNSFP_Polyphen2_HDIV_score	dbNSFP_Polyphen2_HVAR_pred	dbNSFP_Polyphen2_HVAR_rankscore	dbNSFP_Polyphen2_HVAR_score	dbNSFP_RadialSVM_pred	dbNSFP_RadialSVM_rankscore	dbNSFP_RadialSVM_score	dbNSFP_Reliability_index	dbNSFP_SIFT_converted_rankscore	dbNSFP_SIFT_pred	dbNSFP_SIFT_score	dbNSFP_SLR_test_statistic	dbNSFP_SiPhy_29way_logOdds	dbNSFP_SiPhy_29way_logOdds_rankscore	dbNSFP_SiPhy_29way_pi	dbNSFP_UniSNP_ids	dbNSFP_Uniprot_aapos	dbNSFP_Uniprot_acc	dbNSFP_Uniprot_id	dbNSFP_aaalt	dbNSFP_aapos	dbNSFP_aapos_FATHMM	dbNSFP_aapos_SIFT	dbNSFP_aaref	dbNSFP_cds_strand	dbNSFP_codonpos	dbNSFP_folddegenerate	dbNSFP_genename	dbNSFP_hg18_pos1coor	dbNSFP_phastCons100way_vertebrate	dbNSFP_phastCons100way_vertebrate_rankscore	dbNSFP_phastCons46way_placental	dbNSFP_phastCons46way_placental_rankscore	dbNSFP_phastCons46way_primate	dbNSFP_phastCons46way_primate_rankscore	dbNSFP_phyloP100way_vertebrate	dbNSFP_phyloP100way_vertebrate_rankscore	dbNSFP_phyloP46way_placental	dbNSFP_phyloP46way_placental_rankscore	dbNSFP_phyloP46way_primate	dbNSFP_phyloP46way_primate_rankscore	dbNSFP_refcodon	gencode_transcript_name	gencode_transcript_status	gencode_transcript_tags	gencode_transcript_type	gene_type	havana_transcript	init_n_lod	init_t_lod	isArtifactMode	n_alt_count	n_ref_count	oxoGCut	pox	pox_cutoff	qox	refseq_mrna_id	t_alt_count	t_lod_fstar	t_ref_count	tumor_f
TRPM7	54822	ucsc.edu	hg19	15	50950010	50950010	+	Silent	SNP	A	A	T			TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6																										GACATCCTGGAAGGCATCTAT	0.254	0	53.0	48.0	50.0	15	50950010	1790	4064	5854	SO:0001819	synonymous_variant	AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439	"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17994	protein-coding gene	gene with protein product		605692			11161216, 11385574, 16382100	Standard	XM_005254486	Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.90T>A	15.37:g.50950010A>T		Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	ENST00000313478.7	37	CCDS42035.1																																																																																			TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1				-27	39					NM_017672	4		31	
PPP2R5D	5528	broad.mit.edu	hg19	6	42978205	42978205	+	Splice_Site	SNP	G	G	C			TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr6:42978205G>C	ENST00000485511.1	+	13	1558		c.e13-1		PPP2R5D_ENST00000394110.3_Splice_Site|PPP2R5D_ENST00000461010.1_Splice_Site|PPP2R5D_ENST00000472118.1_Splice_Site	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta			nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		CTTGGTGGCAGGACAATCCAT	0.463	0	102.0	96.0	98.0	6	42978205	2203	4300	6503	SO:0001630	splice_region_variant	L76702	CCDS4878.1, CCDS43464.1, CCDS55002.1	6p21.1	2010-06-18	2010-04-14		ENSG00000112640	ENSG00000112640	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9312	protein-coding gene	gene with protein product		601646	"""protein phosphatase 2, regulatory subunit B (B56), delta isoform"", ""protein phosphatase 2, regulatory subunit B', delta isoform"""		7592815	Standard	NM_006245	Approved	B56D	uc003oth.4	Q14738	OTTHUMG00000014716	ENST00000485511.1:c.1380-1G>C	6.37:g.42978205G>C		A8K3I9|B5BUA6|O00494|O00696|Q15171|Q5TC39	ENST00000485511.1	37	CCDS4878.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378693	0.82682	.	.	ENSG00000112640	ENST00000485511;ENST00000394110;ENST00000472118;ENST00000541610;ENST00000461010;ENST00000470467;ENST00000486843	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1922	0.89810	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPP2R5D	43086183	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.657000	0.98554	2.525000	0.85131	0.655000	0.94253	.	PPP2R5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040573.3		46.430792	0	-18	59	0	0	1	0	NM_006245	18	49.994638	51	0.260870
GNA11	2767	broad.mit.edu	hg19	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209		activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	GTGGGGGGCCAGCGGTCGGAG	0.612	82	104.0	89.0	94.0	19	3118942	2203	4300	6503	SO:0001583	missense	AF493900	CCDS12103.1	19p13.3	2014-02-04			ENSG00000088256	ENSG00000088256		4379	protein-coding gene	gene with protein product		139313	"""hypocalciuric hypercalcemia 2"""	HHC2	1302014, 23802516	Standard	NM_002067	Approved	FBH, FBH2, FHH2	uc002lxd.3	P29992	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu	O15109|Q14350|Q6IB00	ENST00000078429.4	37	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	GNA11	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		63.300677	0	-3	78	0	0	1	0	NM_002067	20	63.306255	19	0.512821
SLIT2	9353	broad.mit.edu	hg19	4	20255451	20255451	+	Missense_Mutation	SNP	G	G	T			TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr4:20255451G>T	ENST00000504154.1	+	1	265	c.13G>T	c.(13-15)Ggc>Tgc	p.G5C	SLIT2_ENST00000503823.1_Missense_Mutation_p.G5C|SLIT2_ENST00000273739.5_Missense_Mutation_p.G5C|SLIT2_ENST00000503837.1_Missense_Mutation_p.G5C	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	5		apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116					GCGCGGCGTTGGCTGGCAGAT	0.667	0	90.0	72.0	78.0	4	20255451	2203	4299	6502	SO:0001583	missense	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147		11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3	9813312, 18269211	Standard	XM_005248211	Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.13G>T	4.37:g.20255451G>T	ENSP00000422591:p.Gly5Cys	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	ENST00000504154.1	37	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.893381	0.72524	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.81247	-1.46;-1.47;-1.38;-1.43	3.99	3.14	0.36123	.	0.390725	0.24889	N	0.034796	T	0.81148	0.4762	L	0.36672	1.1	0.28435	N	0.917068	D;D	0.63046	0.992;0.986	P;P	0.61003	0.882;0.766	T	0.74213	-0.3738	10	0.87932	D	0	.	9.4262	0.38581	0.1069:0.0:0.8931:0.0	.	5;5	O94813-3;O94813	.;SLIT2_HUMAN	C	5	ENSP00000427548:G5C;ENSP00000422591:G5C;ENSP00000273739:G5C;ENSP00000422261:G5C	ENSP00000273739:G5C	G	+	1	0	SLIT2	19864549	1.000000	0.71417	0.838000	0.33150	0.816000	0.46133	4.448000	0.60027	1.023000	0.39654	0.313000	0.20887	GGC	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2		102.039550	1	2	76	0	8.16277e-20	1	8.53381e-20		34	102.223008	42	0.447368
TRIM29	23650	broad.mit.edu	hg19	11	119996547	119996547	+	Silent	SNP	G	G	T			TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr11:119996547G>T	ENST00000341846.5	-	4	1606	c.1185C>A	c.(1183-1185)acC>acA	p.T395T	TRIM29_ENST00000541857.1_Silent_p.T128T|TRIM29_ENST00000529044.1_Silent_p.T134T	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	395		transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)	GGACATGATAGGTGGGCAGGG	0.522	0	68.0	62.0	64.0	11	119996547	2199	4295	6494	SO:0001819	synonymous_variant	AF230388	CCDS8428.1	11q23.3	2011-04-20	2011-01-25		ENSG00000137699	ENSG00000137699	"""Tripartite motif containing / Tripartite motif containing"""	17274	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM29"", ""ataxia-telangiectasia group D-associated protein"""	610658	"""tripartite motif-containing 29"""		11331580	Standard	NM_012101	Approved	ATDC, FLJ36085	uc001pwz.3	Q14134	OTTHUMG00000140377	ENST00000341846.5:c.1185C>A	11.37:g.119996547G>T		Q96AA9|Q9BZY7	ENST00000341846.5	37	CCDS8428.1																																																																																			TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277108.2		70.541587	1	3	59	0	4.26978e-12	1	4.26978e-12	NM_012101	22	70.627444	18	0.550000
DCUN1D2	55208	broad.mit.edu	hg19	13	114115432	114115432	+	Silent	SNP	C	C	T			TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr13:114115432C>T	ENST00000332592.3	-	3	175	c.141G>A	c.(139-141)gcG>gcA	p.A47A	DCUN1D2_ENST00000478244.1_Silent_p.A180A			Q6PH85	DCNL2_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 2	180					breast(1)|endometrium(1)|large_intestine(1)|lung(3)|stomach(1)	7	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234)		ATTTCCAATACGCAACAGCCA	0.383	0	100.0	101.0	101.0	13	114115432	2202	4300	6502	SO:0001819	synonymous_variant	AK001566	CCDS32013.1	13q34	2013-06-10	2013-06-10	2005-10-04	ENSG00000150401	ENSG00000150401		20328	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 17"", ""DCN1, defective in cullin neddylation 1, domain containing 2 (S. cerevisiae)"""	C13orf17	15988528	Standard	XM_005268320	Approved	FLJ10704, FLJ20092	uc001vtr.1	Q6PH85	OTTHUMG00000017390	ENST00000478244.1:c.540G>A	13.37:g.114115432C>T		Q5JSA5|Q5JSA6|Q5JSA7|Q9NVJ1|Q9NXR6	ENST00000478244.1	37	CCDS32013.1																																																																																			DCUN1D2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045938.4		43.046442	0	5	56	0	0	1	0	NM_018185	14	43.109638	17	0.451613
FOXC1	2296	broad.mit.edu	hg19	6	1612302	1612302	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr6:1612302G>A	ENST00000380874.2	+	1	1622	c.1622G>A	c.(1621-1623)cGc>cAc	p.R541H		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	541		anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	nuclear heterochromatin|transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)	TCTCTGTACCGCACGTCCGGA	0.512	0	87.0	76.0	80.0	6	1612302	2203	4300	6503	SO:0001583	missense	AF048693	CCDS4473.1	6p25	2008-04-10			ENSG00000054598	ENSG00000054598	"""Forkhead boxes"""	3800	protein-coding gene	gene with protein product		601090		FKHL7, IRID1	7957066, 9620769	Standard	NM_001453	Approved	FREAC3, ARA, IGDA, IHG1	uc003mtp.3	Q12948	OTTHUMG00000016182	ENST00000380874.2:c.1622G>A	6.37:g.1612302G>A	ENSP00000370256:p.Arg541His	Q86UP7|Q9BYM1|Q9NUE5|Q9UDD0|Q9UP06	ENST00000380874.2	37	CCDS4473.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293132	0.80914	.	.	ENSG00000054598	ENST00000380874	D	0.83335	-1.71	3.74	3.74	0.42951	.	0.000000	0.64402	U	0.000004	T	0.81278	0.4789	L	0.41492	1.28	0.58432	D	0.999998	D	0.71674	0.998	P	0.57324	0.818	D	0.84583	0.0662	10	0.87932	D	0	.	15.3353	0.74247	0.0:0.0:1.0:0.0	.	541	Q12948	FOXC1_HUMAN	H	541	ENSP00000370256:R541H	ENSP00000370256:R541H	R	+	2	0	FOXC1	1557301	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.107000	0.71517	1.941000	0.56285	0.448000	0.29417	CGC	FOXC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043450.1		-4.619956	0	-18	50	0	0	1	0		3	6.602376	51	0.055556
CLEC4M	10332	broad.mit.edu	hg19	19	7833752	7833752	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr19:7833752C>T	ENST00000327325.5	+	7	1196	c.1078C>T	c.(1078-1080)Ccc>Tcc	p.P360S	CLEC4M_ENST00000597522.1_Missense_Mutation_p.T230I|CLEC4M_ENST00000357361.2_Missense_Mutation_p.T322I|CLEC4M_ENST00000248228.4_Missense_Mutation_p.P338S|CLEC4M_ENST00000334806.5_Missense_Mutation_p.P309S|CLEC4M_ENST00000359059.5_Missense_Mutation_p.P293S|CLEC4M_ENST00000596707.1_Missense_Mutation_p.P293S|CLEC4M_ENST00000595496.1_Missense_Mutation_p.P224S|CLEC4M_ENST00000394122.2_Missense_Mutation_p.P348S|CLEC4M_ENST00000596363.1_Missense_Mutation_p.T294I	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	360	C-type lectin.	cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26					CAGTGGAGAACCCAACAATAG	0.512	0	165.0	152.0	157.0	19	7833752	2203	4300	6503	SO:0001583	missense	AB015629	CCDS12187.1, CCDS59346.1, CCDS59347.1, CCDS59348.1	19p13	2008-02-05	2005-02-04	2005-02-11		ENSG00000104938	"""C-type lectin domain containing"", ""CD molecules"""	13523	protein-coding gene	gene with protein product		605872	"""CD299 antigen"""	CD209L, CD299	10072769	Standard	NM_001144904	Approved	HP10347, DC-SIGNR, LSIGN, DCSIGNR, DC-SIGN2	uc010dvt.3	Q9H2X3		ENST00000327325.5:c.1078C>T	19.37:g.7833752C>T	ENSP00000316228:p.Pro360Ser	A6NKI4|A8K8B3|Q69F40|Q969M4|Q96QP3|Q96QP4|Q96QP5|Q96QP6|Q9BXS3|Q9H2Q9|Q9H8F0|Q9Y2A8	ENST00000327325.5	37	CCDS12187.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.36|14.36	2.511621|2.511621	0.44660|0.44660	.|.	.|.	ENSG00000104938|ENSG00000104938	ENST00000327325;ENST00000394122;ENST00000248228;ENST00000334806;ENST00000359059|ENST00000357361	T;T;T;T;T|T	0.70631|0.03358	-0.5;-0.5;-0.5;-0.5;-0.5|3.96	2.46|2.46	2.46|2.46	0.29980|0.29980	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);|.	.|.	.|.	.|.	.|.	T|T	0.03915|0.03915	0.0110|0.0110	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	D;D;D;D;D;D|B;B	0.89917|0.23735	0.996;0.999;1.0;1.0;1.0;0.999|0.09;0.062	D;D;D;D;D;D|B;B	0.97110|0.23716	0.968;0.991;1.0;1.0;0.997;0.991|0.048;0.03	T|T	0.33111|0.33111	-0.9881|-0.9881	8|8	0.87932|0.87932	D|D	0|0	.|.	8.5871|8.5871	0.33664|0.33664	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	309;293;360;348;337;224|294;230	B4E2Z5;Q9H2X3-5;Q9H2X3;E7ENS9;Q9H2X3-8;Q9H2X3-7|Q9H2X3-9;Q9H2X3-4	.;.;CLC4M_HUMAN;.;.;.|.;.	S|I	360;348;338;309;293|322	ENSP00000316228:P360S;ENSP00000377680:P348S;ENSP00000248228:P338S;ENSP00000335228:P309S;ENSP00000351954:P293S|ENSP00000349924:T322I	ENSP00000248228:P338S|ENSP00000349924:T322I	P|T	+|+	1|2	0|0	CLEC4M|CLEC4M	7739752|7739752	0.699000|0.699000	0.27786|0.27786	0.209000|0.209000	0.23619|0.23619	0.004000|0.004000	0.04260|0.04260	2.972000|2.972000	0.49256|0.49256	1.700000|1.700000	0.51204|0.51204	0.306000|0.306000	0.20318|0.20318	CCC|ACC	CLEC4M-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461161.1		57.548611	0	4	96	0	0	1	0	NM_014257	18	57.554492	19	0.486486
PPL	5493	broad.mit.edu	hg19	16	4935851	4935851	+	Missense_Mutation	SNP	C	C	G			TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr16:4935851C>G	ENST00000345988.2	-	22	2894	c.2805G>C	c.(2803-2805)aaG>aaC	p.K935N	PPL_ENST00000590782.2_Missense_Mutation_p.K933N	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	935		keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62					TGAGCACCTCCTTCCTCACCA	0.612	0	95.0	101.0	99.0	16	4935851	2197	4300	6497	SO:0001583	missense	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898		9273	protein-coding gene	gene with protein product		602871			9570964, 9521878	Standard	NM_002705	Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.2805G>C	16.37:g.4935851C>G	ENSP00000340510:p.Lys935Asn	O60314|O60454|Q14C98	ENST00000345988.2	37	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.131558	0.37630	.	.	ENSG00000118898	ENST00000345988	T	0.60424	0.19	5.2	2.87	0.33458	.	0.114864	0.64402	D	0.000020	T	0.58148	0.2102	M	0.71581	2.175	0.46185	D	0.998919	P	0.46706	0.883	B	0.44224	0.444	T	0.62992	-0.6736	10	0.46703	T	0.11	.	12.2294	0.54478	0.0:0.7816:0.0:0.2184	.	935	O60437	PEPL_HUMAN	N	935	ENSP00000340510:K935N	ENSP00000340510:K935N	K	-	3	2	PPL	4875852	1.000000	0.71417	0.991000	0.47740	0.484000	0.33280	2.000000	0.40816	1.199000	0.43173	0.555000	0.69702	AAG	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1		124.051940	0	-27	124	0	0	1	0	NM_002705	38	124.100090	34	0.527778
ABCA4	24	broad.mit.edu	hg19	1	94512515	94512515	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr1:94512515C>T	ENST00000370225.3	-	19	2964	c.2878G>A	c.(2878-2880)Gca>Aca	p.A960T	ABCA4_ENST00000535735.1_Missense_Mutation_p.A886T	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	960	ABC transporter 1.	phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	CCCAGGAATGCGGTGATCTGG	0.537	0	136.0	136.0	136.0	1	94512515	2203	4300	6503	SO:0001583	missense	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691	"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD	9490294	Standard	NM_000350	Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.2878G>A	1.37:g.94512515C>T	ENSP00000359245:p.Ala960Thr	O15112|O60438|O60915|Q0QD48|Q4LE31	ENST00000370225.3	37	CCDS747.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.402280	0.83230	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.94758	-3.51;-3.22	5.48	5.48	0.80851	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.106561	0.64402	D	0.000004	D	0.95723	0.8609	L	0.60455	1.87	0.33502	D	0.59009	D;P	0.76494	0.999;0.923	P;B	0.62184	0.899;0.295	D	0.95837	0.8863	10	0.87932	D	0	.	19.3482	0.94373	0.0:1.0:0.0:0.0	.	886;960	F5H6E5;P78363	.;ABCA4_HUMAN	T	960;886	ENSP00000359245:A960T;ENSP00000437682:A886T	ENSP00000359245:A960T	A	-	1	0	ABCA4	94285103	0.443000	0.25641	0.232000	0.24009	0.964000	0.63967	0.969000	0.29370	2.572000	0.86782	0.655000	0.94253	GCA	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1		-21.907326	0	-13	120	0	0	1	0	NM_000350	4	6.325751	115	0.033613
CELSR2	1952	broad.mit.edu	hg19	1	109803788	109803788	+	Silent	SNP	G	G	A			TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr1:109803788G>A	ENST00000271332.3	+	3	4144	c.4083G>A	c.(4081-4083)gaG>gaA	p.E1361E		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1361	EGF-like 3; calcium-binding.	dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	GAGACTTCGAGAAGCCCTACT	0.632	0	99.0	97.0	98.0	1	109803788	2203	4300	6503	SO:0001819	synonymous_variant	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126	"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2	9693030, 10907856	Standard	NM_001408	Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.4083G>A	1.37:g.109803788G>A		Q5T2Y7|Q92566	ENST00000271332.3	37	CCDS796.1																																																																																			CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1		114.303901	0	-5	91	0	0	1	0	NM_001408	37	114.326909	40	0.480519
SF3B1	23451	broad.mit.edu	hg19	2	198267372	198267372	+	Missense_Mutation	SNP	T	T	C			TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr2:198267372T>C	ENST00000335508.6	-	14	2076	c.1985A>G	c.(1984-1986)cAc>cGc	p.H662R		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa			nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)		AATACCAGTGTGTCTCGCTTG	0.428	0	122.0	121.0	121.0	2	198267372	2203	4300	6503	SO:0001583	missense	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524		10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""		9585501	Standard	XM_005246428	Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.1985A>G	2.37:g.198267372T>C	ENSP00000335321:p.His662Arg	E9PCH3	ENST00000335508.6	37	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614325	0.87359	.	.	ENSG00000115524	ENST00000335508	T	0.63417	-0.04	5.68	5.68	0.88126	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85788	0.5778	H	0.96518	3.835	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90385	0.4391	10	0.87932	D	0	.	15.938	0.79729	0.0:0.0:0.0:1.0	.	662	O75533	SF3B1_HUMAN	R	662	ENSP00000335321:H662R	ENSP00000335321:H662R	H	-	2	0	SF3B1	197975617	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.877000	0.87225	2.167000	0.68274	0.459000	0.35465	CAC	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2		91.374048	0	15	78	0	0	1	0		29	91.377834	28	0.508772
CDR2L	30850	broad.mit.edu	hg19	17	72997556	72997556	+	Missense_Mutation	SNP	A	A	G			TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr17:72997556A>G	ENST00000337231.5	+	3	725	c.313A>G	c.(313-315)Agt>Ggt	p.S105G		NM_014603.2	NP_055418.2	Q86X02	CDR2L_HUMAN	cerebellar degeneration-related protein 2-like	105							all_lung(278;0.226)				GGTGCTGGAGAGTAAGGCTGC	0.667	0	34.0	25.0	28.0	17	72997556	2200	4291	6491	SO:0001583	missense		CCDS11710.2	17q25.1	2006-03-28			ENSG00000109089	ENSG00000109089		29999	protein-coding gene	gene with protein product	"""paraneoplastic antigen"""					Standard	NM_014603	Approved	HUMPPA	uc002jml.4	Q86X02	OTTHUMG00000150435	ENST00000337231.5:c.313A>G	17.37:g.72997556A>G	ENSP00000336587:p.Ser105Gly	B4DFA7|Q15175	ENST00000337231.5	37	CCDS11710.2	.	.	.	.	.	.	.	.	.	.	A	26.3	4.724429	0.89298	.	.	ENSG00000109089	ENST00000337231	T	0.49432	0.78	5.08	5.08	0.68730	.	0.039313	0.85682	D	0.000000	T	0.56062	0.1960	M	0.81942	2.565	0.45979	D	0.998799	P	0.50443	0.935	P	0.45639	0.488	T	0.62544	-0.6832	10	0.42905	T	0.14	-8.4286	15.1448	0.72641	1.0:0.0:0.0:0.0	.	105	Q86X02	CDR2L_HUMAN	G	105	ENSP00000336587:S105G	ENSP00000336587:S105G	S	+	1	0	CDR2L	70509151	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.526000	0.81920	2.032000	0.59987	0.477000	0.44152	AGT	CDR2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318080.1		7.016368	0	7	16	0	0	1	0	NM_014603	3	7.240599	6	0.333333
VWA7	80737	broad.mit.edu	hg19	6	31736929	31736929	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr6:31736929G>A	ENST00000375686.3	-	10	1606	c.1369C>T	c.(1369-1371)Cgt>Tgt	p.R457C	VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000447450.1_Missense_Mutation_p.R457C|VWA7_ENST00000375688.4_Missense_Mutation_p.R457C	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN	von Willebrand factor A domain containing 7	457			extracellular region								AAGATCTCACGCCGAGCTCGA	0.537	0	158.0	110.0	128.0	6	31736929	1511	2709	4220	SO:0001583	missense		CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396		13939	protein-coding gene	gene with protein product		609693	"""chromosome 6 open reading frame 27"""	C6orf27		Standard	NM_025258	Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.1369C>T	6.37:g.31736929G>A	ENSP00000364840:p.Arg457Cys	A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	ENST00000375688.4	37	CCDS4721.2	.	.	.	.	.	.	.	.	.	.	G	12.70	2.016370	0.35606	.	.	ENSG00000204396	ENST00000375688;ENST00000375686;ENST00000447450	T;T;T	0.37235	2.4;2.2;1.21	5.65	3.69	0.42338	von Willebrand factor, type A (1);	0.053832	0.64402	N	0.000002	T	0.44561	0.1299	M	0.76574	2.34	0.33305	D	0.565278	D	0.89917	1.0	D	0.87578	0.998	T	0.51371	-0.8714	10	0.72032	D	0.01	-4.633	7.9599	0.30066	0.0873:0.0:0.6873:0.2254	.	457	Q9Y334	G7C_HUMAN	C	457	ENSP00000364840:R457C;ENSP00000364838:R457C;ENSP00000390554:R457C	ENSP00000364838:R457C	R	-	1	0	C6orf27	31844908	0.991000	0.36638	0.865000	0.33974	0.094000	0.18550	2.377000	0.44300	1.399000	0.46721	-0.379000	0.06801	CGT	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076233.2		33.083530	0	12	67	0	0	1	0	NM_025258	12	34.969895	31	0.279070
TF	7018	broad.mit.edu	hg19	3	133473498	133473498	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr3:133473498G>A	ENST00000402696.3	+	4	970	c.485G>A	c.(484-486)cGt>cAt	p.R162H	TF_ENST00000264998.3_Missense_Mutation_p.R35H|TF_ENST00000475382.1_3'UTR	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	162	Transferrin-like 1.	cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding	NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					CCTGAGCCACGTAAACCTCTT	0.567	0	138.0	138.0	138.0	3	133473498	2203	4300	6503	SO:0001583	missense		CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513		11740	protein-coding gene	gene with protein product		190000			6585826	Standard	NM_001063	Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.485G>A	3.37:g.133473498G>A	ENSP00000385834:p.Arg162His	O43890|Q1HBA5|Q9NQB8|Q9UHV0	ENST00000402696.3	37	CCDS3080.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.184348	0.57800	0.0	1.16E-4	ENSG00000091513	ENST00000402696;ENST00000482271;ENST00000264998	T;T;T	0.34275	1.37;1.37;1.37	5.25	-0.0568	0.13803	.	0.694749	0.15001	N	0.286124	T	0.35913	0.0948	M	0.81802	2.56	0.09310	N	0.999999	B	0.19583	0.037	B	0.17433	0.018	T	0.33854	-0.9852	10	0.45353	T	0.12	-1.2792	6.9194	0.24378	0.1599:0.1833:0.6568:0.0	.	162	P02787	TRFE_HUMAN	H	162;35;35	ENSP00000385834:R162H;ENSP00000419338:R35H;ENSP00000264998:R35H	ENSP00000264998:R35H	R	+	2	0	TF	134956188	0.002000	0.14202	0.049000	0.19019	0.950000	0.60333	0.239000	0.18023	0.092000	0.17331	0.561000	0.74099	CGT	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1		162.572708	0	-12	165	0	0	1	0	NM_001063	53	162.590468	56	0.486239
C11orf80	79703	broad.mit.edu	hg19	11	66568126	66568126	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr11:66568126delC	ENST00000360962.4	+	7	739	c.732delC	c.(730-732)ttcfs	p.F244fs	C11orf80_ENST00000527634.1_Frame_Shift_Del_p.F25fs|C11orf80_ENST00000346672.4_Frame_Shift_Del_p.F89fs|C11orf80_ENST00000540737.1_Frame_Shift_Del_p.F78fs|C11orf80_ENST00000525449.2_Frame_Shift_Del_p.F89fs|C11orf80_ENST00000527368.1_3'UTR|C11orf80_ENST00000532565.2_Frame_Shift_Del_p.F25fs	NM_024650.3	NP_078926.3	Q8N6T0	CK080_HUMAN	chromosome 11 open reading frame 80	89					autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					GATTTCATTTCAGTGTAAAGG	0.358	0	102.0	90.0	93.0	11	66568126	1820	4073	5893	SO:0001589	frameshift_variant			11q13.2	2012-05-30			ENSG00000173715	ENSG00000173715		26197	protein-coding gene	gene with protein product					18160775	Standard	NM_024650	Approved	FLJ22531	uc021qmd.1	Q8N6T0	OTTHUMG00000167164	ENST00000532565.2:c.75delC	11.37:g.66568126delC	ENSP00000434804:p.Phe25fs	Q9H677	ENST00000532565.2	37																																																																																				C11orf80-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000393513.5	.	.		-8	5					NM_024650	2		4	0.33
ATAD2B	54454	broad.mit.edu	hg19	2	24046157	24046160	+	Frame_Shift_Del	DEL	GCAT	GCAT	-			TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr2:24046157_24046160delGCAT	ENST00000238789.5	-	16	2442_2445	c.2099_2102delATGC	c.(2098-2103)catgctfs	p.HA700fs	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	700				ATP binding|nucleoside-triphosphatase activity	central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				GCTAATTTCAGCATGAGGAAACAC	0.368	0									SO:0001589	frameshift_variant	AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778	"""ATPases / AAA-type"""	29230	protein-coding gene	gene with protein product		615347				Standard	XM_005264372	Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.2099_2102delATGC	2.37:g.24046157_24046160delGCAT	ENSP00000238789:p.His700fs	B9ZVQ5|Q6ZNA6|Q8N9E7	ENST00000238789.5	37	CCDS46227.1																																																																																			ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	.	.		4	29					NM_017552	14		12	0.54
