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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
VIPR1	7433	broad.mit.edu	37	3	42567412	42567412	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr3:42567412G>T	uc003clf.2	+	3	450	c.326G>T	c.(325-327)gGc>gTc	p.G109V	VIPR1_uc021wwl.1_Missense_Mutation_p.G68V|VIPR1_uc011azn.2_Missense_Mutation_p.G82V|VIPR1_uc011azl.1_Missense_Mutation_p.G62V|VIPR1_uc011azm.1_5'UTR	NM_004624	NP_001238811	P32241	VIPR1_HUMAN	Homo sapiens vasoactive intestinal peptide receptor 1 (VIPR1), transcript variant 1, mRNA.	109					G-protein signaling, coupled to cyclic nucleotide second messenger|digestion|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		ACCGACGAAGGCTGGACGCAC	0.647000													3	36					0	0	1	0	0
DDX47	51202	broad.mit.edu	37	12	12974651	12974651	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr12:12974651A>G	uc001rav.3	+	6	1031	c.433A>G	c.(433-435)Ata>Gta	p.I145V	DDX47_uc009zhw.1_Missense_Mutation_p.I145V|DDX47_uc001rax.3_Missense_Mutation_p.I145V|DDX47_uc001ray.3_Missense_Mutation_p.I145V|DDX47_uc010shn.1_3'UTR	NM_016355	NP_057439	Q9H0S4	DDX47_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 47 (DDX47), transcript variant 1, mRNA.	145	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		AAAACCACATATAATAATAGG	0.358000													12	42					0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125824617	125824617	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr3:125824617C>G	uc003eim.1	-	21	2795	c.2605G>C	c.(2605-2607)Gcc>Ccc	p.A869P	ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc011bki.1_Missense_Mutation_p.A768P|ALDH1L1_uc003ein.1_Missense_Mutation_p.A404P	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	869	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	AAGGGAGCGGCCACGTCGGTC	0.488000													40	125					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32011583	32011583	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr6:32011583C>T	uc003nzl.2	-	34	11669	c.11467G>A	c.(11467-11469)Gtg>Atg	p.V3823M	TNXB_uc003nzg.1_Missense_Mutation_p.V254M|TNXB_uc003nzh.1_Missense_Mutation_p.V292M	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3870	Fibronectin type-III 30.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ACCGAGACCACGGTCACCTCA	0.627000													24	129					0	0	1	0	0
AHSG	197	broad.mit.edu	37	3	186338454	186338454	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr3:186338454C>T	uc003fqk.4	+	6	920	c.839C>T	c.(838-840)tCc>tTc	p.S280F		NM_001622	NP_001613	P02765	FETUA_HUMAN	Homo sapiens alpha-2-HS-glycoprotein (AHSG), mRNA.	280					acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		GCACCTCCGTCCCCTCCACTT	0.627000													43	163					0	0	1	0	0
ASTL	431705	broad.mit.edu	37	2	96789882	96789882	+	Missense_Mutation	SNP	C	C	T	rs138508296	by1000genomes	TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr2:96789882C>T	uc010yui.2	-	8	1003	c.1003G>A	c.(1003-1005)Gtt>Att	p.V335I		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	Homo sapiens astacin-like metallo-endopeptidase (M12 family) (ASTL), mRNA.	335					proteolysis		metalloendopeptidase activity|zinc ion binding	p.V335F(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CCTGCAGGAACGGGCTGGCCT	0.672000													17	57					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51901055	51901055	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr17:51901055C>T	uc002iua.2	+	0	817	c.661C>T	c.(661-663)Cgg>Tgg	p.R221W	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	221	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.R221W(2)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CGTGAGGAAGCGGCCTCTCAA	0.547000													8	19					0	0	1	0	0
CROCCP3	114819	broad.mit.edu	37	1	16809784	16809784	+	RNA	SNP	T	T	G			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr1:16809784T>G	uc001ays.2	-	6		c.937A>C			CROCCP3_uc001ayt.2_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 3 (CROCCP3), non-coding RNA.																		CCCGGCACCTTCTCAGGAGCT	0.632000													3	6					0	0	1	0	0
UHRF1	29128	broad.mit.edu	37	19	4930834	4930834	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr19:4930834C>G	uc002mbp.3	+	2	847	c.554C>G	c.(553-555)tCc>tGc	p.S185C	UHRF1_uc002mbo.3_Missense_Mutation_p.S172C|UHRF1_uc010xik.2_Intron|UHRF1_uc010duf.3_Non-coding_Transcript|MIR4747_uc021unk.1_5'Flank	NM_013282	NP_037414	Q96T88	UHRF1_HUMAN	Homo sapiens ubiquitin-like with PHD and ring finger domains 1 (UHRF1), transcript variant 2, mRNA.	172					DNA repair|cell cycle|cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		CCCTGCAGCTCCACGTCCAGG	0.647000													29	82					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158637824	158637824	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr1:158637824T>A	uc001fst.1	-	14	2061	c.1862A>T	c.(1861-1863)cAa>cTa	p.Q621L		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	621					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTGCTGCTTTTGAACCCTGCT	0.388000													4	189					0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42635234	42635234	+	Silent	SNP	G	G	A			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr20:42635234G>A	uc010ggo.3	+	2	253	c.213G>A	c.(211-213)ccG>ccA	p.P71P	TOX2_uc002xle.4_Silent_p.P29P|TOX2_uc010ggp.3_Silent_p.P29P|TOX2_uc002xlf.4_Silent_p.P80P|Metazoa_SRP_uc021wdz.1_5'Flank	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	80					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			AGATCCCCCCGATAACACCTC	0.587000													30	72					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11596429	11596429	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr1:11596429G>A	uc001ash.4	+	20	4003	c.3865G>A	c.(3865-3867)Gtg>Atg	p.V1289M		NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	1289					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CGTGCGGCACGTGGGCGTGGC	0.667000													19	36					0	0	1	0	0
AK300121	0	broad.mit.edu	37	12	52646173	52646173	+	Silent	SNP	A	A	G			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr12:52646173A>G	uc010snr.1	-	6	963	c.615T>C	c.(613-615)ggT>ggC	p.G205G	KRT86_uc010snq.2_Intron					SubName: Full=cDNA FLJ60029, highly similar to Keratin, type II cuticular Hb3;																		TCTGCAGGGCACCCTCCAGCT	0.642000													6	98					0	0	1	0	0
AP2M1	1173	broad.mit.edu	37	3	183901338	183901338	+	Silent	SNP	C	C	T			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr3:183901338C>T	uc021xig.1	+	10	1285	c.1242C>T	c.(1240-1242)agC>agT	p.S414S	AP2M1_uc003fmw.3_Silent_p.S412S|AP2M1_uc021xif.1_Silent_p.S230S|AP2M1_uc011bqy.2_Silent_p.S284S|ABCF3_uc003fmz.2_5'Flank|ABCF3_uc003fna.2_5'Flank	NM_004068	NP_004059	Q96CW1	AP2M1_HUMAN	Homo sapiens adaptor-related protein complex 2, mu 1 subunit (AP2M1), transcript variant 1, mRNA.	414	MHD.				axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGAACTACAGCGACCATGATG	0.557000													16	51					0	0	1	0	0
PTCHD4	442213	broad.mit.edu	37	6	47846113	47846113	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr6:47846113C>T	uc011dwm.2	-	2	2501	c.2467G>A	c.(2467-2469)Gcc>Acc	p.A823T	PTCHD4_uc011dwn.2_Missense_Mutation_p.A570T	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	Homo sapiens chromosome 6 open reading frame 138 (C6orf138), transcript variant 1, mRNA.	823						integral to membrane	hedgehog receptor activity										TTTCGCTTGGCACGTTTCTTT	0.438000													26	67					0	0	1	0	0
PTH2	113091	broad.mit.edu	37	19	49926533	49926533	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr19:49926533G>C	uc002pnn.1	-	0	166	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V		NM_178449	NP_848544	Q96A98	TIP39_HUMAN	Homo sapiens parathyroid hormone 2 (PTH2), mRNA.	22					neuropeptide signaling pathway	extracellular region		p.L22V(4)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		GGCACCACcagcagcagcagc	0.692000													3	27					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr12:132547087G>A	uc001ujn.3	+	46	8327	c.8175G>A	c.(8173-8175)caG>caA	p.Q2725Q	EP400_uc021rgq.1_Silent_p.Q2724Q|EP400_uc001ujm.3_Silent_p.Q2644Q|EP400_uc001ujp.3_5'UTR	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2761	Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(32)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000													6	37					0	0	1	0	0
TTLL6	284076	broad.mit.edu	37	17	46863542	46863542	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr17:46863542G>A	uc021tzm.1	-	11	1780	c.1745C>T	c.(1744-1746)aCc>aTc	p.T582I	TTLL6_uc002iob.3_Missense_Mutation_p.T275I|TTLL6_uc010dbi.3_Non-coding_Transcript|TTLL6_uc002ioc.3_Missense_Mutation_p.T335I|TTLL6_uc002iod.3_Missense_Mutation_p.T429I	NM_001130918	NP_001124390	Q8N841	TTLL6_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 6 (TTLL6), transcript variant 1, mRNA.	534						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GGAGGCTTGGGTGGCGGCCTT	0.577000													13	530					0	0	1	0	0
ASXL1	171023	broad.mit.edu	37	20	31022345	31022345	+	Silent	SNP	C	C	A			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr20:31022345C>A	uc021wbw.1	+	12	2262	c.1830C>A	c.(1828-1830)ggC>ggA	p.G610G	ASXL1_uc002wxs.3_Silent_p.G609G|ASXL1_uc010geb.3_Silent_p.G501G	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	Homo sapiens additional sex combs like 1 (Drosophila) (ASXL1), transcript variant 1, mRNA.	610					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.G610G(2)|p.Q592fs*5(1)|p.(574_1542)fs*?(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GTTGGACTGGCGCCAGGACCC	0.632000			"""F, N, Mis"""		"""MDS, CMML"""								3	52					0	0	1	0	0
AK309255	0	broad.mit.edu	37	15	28878843	28878843	+	RNA	SNP	G	G	A	rs150129920	by1000genomes	TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr15:28878843G>A	uc010aza.1	+	1		c.281G>A			AK309255_uc010azb.1_Non-coding_Transcript					Homo sapiens cDNA, FLJ97818.																		CTTCCTATTTGGCAATGAGCA	0.438000													4	71					0	0	1	0	0
OR5F1	338674	broad.mit.edu	37	11	55761664	55761664	+	Silent	SNP	G	G	A			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr11:55761664G>A	uc010riv.2	-	0	438	c.438C>T	c.(436-438)gcC>gcT	p.A146A		NM_003697	NP_003688	O95221	OR5F1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily F, member 1 (OR5F1), mRNA.	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CAAAAGCCCCGGCTGCCATTT	0.502000													12	27					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154182174	154182174	+	Silent	SNP	G	G	A			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chrX:154182174G>A	uc004fmt.3	-	11	2067	c.1896C>T	c.(1894-1896)atC>atT	p.I632I		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	632	F5/8 type A 2.|Plastocyanin-like 4.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CACTGTGCATGATGTTGGAGG	0.433000													8	142					0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128294293	128294293	+	Silent	SNP	G	G	A			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr6:128294293G>A	uc003qbk.3	-	28	4507	c.4140C>T	c.(4138-4140)ggC>ggT	p.G1380G	PTPRK_uc010kfc.3_Silent_p.G1387G|PTPRK_uc003qbj.3_Silent_p.G1381G|PTPRK_uc011ebu.2_Silent_p.G1403G	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	1380	Tyrosine-protein phosphatase 2.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CACTTCGCCCGCCACCATTTC	0.428000													24	56					0	0	1	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50462138	50462138	+	Silent	SNP	G	G	A			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr19:50462138G>A	uc010ybh.2	-	6	1216	c.1125C>T	c.(1123-1125)aaC>aaT	p.N375N	SIGLEC11_uc010ybi.2_Silent_p.N375N	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA.	375	Ig-like C2-type 3.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		GGGATGTGCCGTTCCCGAGGT	0.662000													3	45					0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117585	117585	+	RNA	SNP	C	C	T			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chrGL000205.1:117585C>T	uc002kgk.4	+	0		c.963C>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		AGACAGCCGACTCCACCACCG	0.617000													4	13					0	0	1	0	0
BUB1	699	broad.mit.edu	37	2	111416223	111416223	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr2:111416223G>T	uc002tgc.3	-	11	1485	c.1373C>A	c.(1372-1374)cCa>cAa	p.P458Q	BUB1_uc010yxh.2_Missense_Mutation_p.P438Q|BUB1_uc010fkb.3_Missense_Mutation_p.P458Q	NM_004336	NP_004327	O43683	BUB1_HUMAN	Homo sapiens budding uninhibited by benzimidazoles 1 homolog (yeast) (BUB1), mRNA.	458	Essential for loading of BUBR1, MAD1L1 and MAD2L1 to kinetochores.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		GGTGGGTGATGGCTGCACTTT	0.433000													4	81					0	0	1	0	0
N4BP3	23138	broad.mit.edu	37	5	177546687	177546687	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr5:177546687G>A	uc003mik.1	+	1	350	c.103G>A	c.(103-105)Ggg>Agg	p.G35R	N4BP3_uc003mil.1_5'Flank	NM_015111	NP_055926	O15049	N4BP3_HUMAN	Homo sapiens NEDD4 binding protein 3 (N4BP3), mRNA.	35						cytoplasmic vesicle membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCACTTGCCGGGTCTCGGGG	0.677000													4	68					0	0	1	0	0
FPR2	2358	broad.mit.edu	37	19	52272405	52272405	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr19:52272405C>A	uc002pxr.3	+	1	539	c.494C>A	c.(493-495)aCt>aAt	p.T165N	FPR2_uc002pxs.4_Missense_Mutation_p.T165N|FPR2_uc010epf.3_Missense_Mutation_p.T165N|FPR2_uc021uyp.1_Missense_Mutation_p.T165N	NM_001005738	NP_001453	P25090	FPR2_HUMAN	Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA.	165					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						CTCTTTTTGACTACAGTAACT	0.512000													3	108					0	0	1	0	0
PLAT	5327	broad.mit.edu	37	8	42045029	42045029	+	Silent	SNP	C	C	A	rs146968391		TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr8:42045029C>A	uc003xos.2	-	5	635	c.426G>T	c.(424-426)gcG>gcT	p.A142A	PLAT_uc010lxf.1_Silent_p.A59A|PLAT_uc010lxg.1_Intron|PLAT_uc003xot.2_Silent_p.A96A|PLAT_uc011lcm.1_Intron|PLAT_uc011lcn.1_Intron	NM_000930	NP_000921	P00750	TPA_HUMAN	Homo sapiens plasminogen activator, tissue (PLAT), transcript variant 1, mRNA.	142	Kringle 1.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CGCCACTCTCCGCTGTGCTCC	0.657000													15	31					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152082220	152082220	+	Missense_Mutation	SNP	G	G	C	rs113946258		TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr1:152082220G>C	uc009wne.1	-	2	3745	c.3473C>G	c.(3472-3474)cCg>cGg	p.P1158R	TCHH_uc001ezp.2_Missense_Mutation_p.P1158R	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1158	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTCTTCTCCGGTTCCTCTCT	0.592000													3	68					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027156	37027156	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chrX:37027156C>G	uc004ddl.2	+	0	725	c.673C>G	c.(673-675)Cag>Gag	p.Q225E		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	225										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCTCCGCCCACAGCCTCCCAA	0.647000													3	33					0	0	1	0	0
ENOX1	55068	broad.mit.edu	37	13	43934080	43934080	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr13:43934080C>T	uc001uza.4	-	6	796	c.496G>A	c.(496-498)Ggt>Agt	p.G166S	ENOX1_uc001uzc.4_Missense_Mutation_p.G166S|ENOX1_uc001uzb.4_Missense_Mutation_p.G166S|ENOX1_uc010tfm.1_5'UTR	NM_001127615	NP_060463	Q8TC92	ENOX1_HUMAN	Homo sapiens ecto-NOX disulfide-thiol exchanger 1 (ENOX1), transcript variant 2, mRNA.	166	RRM.				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	p.G166D(1)		breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GTAATATCACCGCACTGTTCA	0.403000													20	26					0	0	1	0	0
ZNF473	25888	broad.mit.edu	37	19	50548980	50548980	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr19:50548980G>T	uc002prn.3	+	4	1517	c.1280G>T	c.(1279-1281)gGa>gTa	p.G427V	ZNF473_uc002prm.3_Missense_Mutation_p.G427V|ZNF473_uc010ybo.2_Missense_Mutation_p.G415V	NM_001006656	NP_056243	Q8WTR7	ZN473_HUMAN	Homo sapiens zinc finger protein 473 (ZNF473), transcript variant 2, mRNA.	427	Interaction with SLBP/pre-mRNA complex.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		GTTCACAGTGGAGAGAAGCCT	0.493000													5	71					0	0	1	0	0
ZCWPW1	55063	broad.mit.edu	37	7	100014780	100014780	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr7:100014780C>G	uc003uut.3	-	5	636	c.388G>C	c.(388-390)Gag>Cag	p.E130Q	ZCWPW1_uc011kjq.2_Missense_Mutation_p.E9Q|ZCWPW1_uc003uur.3_Missense_Mutation_p.E9Q|ZCWPW1_uc003uus.3_Missense_Mutation_p.E9Q|ZCWPW1_uc011kjr.2_Missense_Mutation_p.E129Q|ZCWPW1_uc003uuu.1_Missense_Mutation_p.E129Q	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA.	130							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAAGAAGTCTCTGCAAAATCA	0.413000													20	57					0	0	1	0	0
ZFP36L1	677	broad.mit.edu	37	14	69256863	69256863	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr14:69256863C>A	uc021rve.1	-	2	705	c.611G>T	c.(610-612)tGc>tTc	p.C204F	ZFP36L1_uc001xki.2_Missense_Mutation_p.C135F|ZFP36L1_uc001xkh.2_Missense_Mutation_p.C135F	NM_001244701	NP_001231630	Q07352	TISB_HUMAN	Homo sapiens zinc finger protein 36, C3H type-like 1 (ZFP36L1), transcript variant 3, mRNA.	135					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGCGAACTGGCACTTGTCCCC	0.642000											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	159					0	0	1	0	0
MAGEA6	4105	broad.mit.edu	37	X	151869994	151869994	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chrX:151869994A>C	uc022chf.1	+	0	684	c.684A>C	c.(682-684)ttA>ttC	p.L228F	MAGEA6_uc004ffq.1_Missense_Mutation_p.L228F|MAGEA6_uc004ffr.1_Missense_Mutation_p.L228F	NM_175868	NP_787064	P43360	MAGA6_HUMAN	Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 2, mRNA.	228	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGTGTGTTAGAGGTGTTTG	0.527000													14	140					0	0	1	0	0
SUSD2	56241	broad.mit.edu	37	22	24581635	24581635	+	Silent	SNP	G	G	A			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr22:24581635G>A	uc002zzn.1	+	7	1121	c.1077G>A	c.(1075-1077)cgG>cgA	p.R359R		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	Homo sapiens sushi domain containing 2 (SUSD2), mRNA.	359	AMOP.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GCAGCCTCCGGTACGGCTCAG	0.697000													10	24					0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135692511	135692511	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr5:135692511G>A	uc003lbn.2	-	1	787	c.565C>T	c.(565-567)Cgc>Tgc	p.R189C	TRPC7_uc010jef.2_Missense_Mutation_p.R180C|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Missense_Mutation_p.R189C|TRPC7_uc010jei.2_Missense_Mutation_p.R189C	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	189					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGCTCGATGCGGGCGCCCTTG	0.622000													24	94					0	0	1	0	0
ZNF57	126295	broad.mit.edu	37	19	2917873	2917873	+	Silent	SNP	G	G	A			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr19:2917873G>A	uc002lwr.3	+	3	1402	c.1254G>A	c.(1252-1254)aaG>aaA	p.K418K	ZNF57_uc010xha.2_Silent_p.K386K	NM_173480	NP_775751	Q68EA5	ZNF57_HUMAN	Homo sapiens zinc finger protein 57 (ZNF57), mRNA.	418					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGAGAGAAGCCTTATGAGT	0.438000													4	76					0	0	1	0	0
CCNG2	901	broad.mit.edu	37	4	78082099	78082099	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr4:78082099A>G	uc003hkq.4	+	3	805	c.502A>G	c.(502-504)Att>Gtt	p.I168V	CCNG2_uc003hkn.4_Missense_Mutation_p.I168V|CCNG2_uc011ccc.1_Missense_Mutation_p.I168V|CCNG2_uc003hkp.4_Missense_Mutation_p.I168V	NM_004354	NP_004345	Q16589	CCNG2_HUMAN	Homo sapiens cyclin G2 (CCNG2), mRNA.	168					cell cycle checkpoint|cell division|mitosis	cytoplasm				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						ATACCATACTATTATACTTTG	0.313000													9	48					0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50953438	50953438	+	Silent	SNP	G	G	A			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr10:50953438G>A	uc009xog.3	-	10	1696	c.1662C>T	c.(1660-1662)taC>taT	p.Y554Y	OGDHL_uc001jie.3_Silent_p.Y527Y|OGDHL_uc010qgt.2_Silent_p.Y470Y|OGDHL_uc010qgu.2_Silent_p.Y318Y|OGDHL_uc009xoh.2_Silent_p.Y318Y	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	527					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GCTTGTCTGCGTACTTCTTCA	0.602000													5	53					0	0	1	0	0
EXT2	2132	broad.mit.edu	37	11	44151632	44151632	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr11:44151632G>A	uc001mya.3	+	6	1272	c.1216G>A	c.(1216-1218)Gtg>Atg	p.V406M	EXT2_uc010rfo.2_Missense_Mutation_p.V401M|EXT2_uc009ykt.3_Missense_Mutation_p.V373M|EXT2_uc001mxz.3_Missense_Mutation_p.V373M	NM_000401	NP_000392	Q93063	EXT2_HUMAN	Homo sapiens exostosin 2 (EXT2), transcript variant 1, mRNA.	373					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						GATGTCAGATGTGTACAGTAT	0.453000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses				23	53					0	0	1	0	0
GZMB	3002	broad.mit.edu	37	14	25101106	25101106	+	Silent	SNP	C	C	T	rs150419134	byFrequency	TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr14:25101106C>T	uc001wps.2	-	3	624	c.558G>A	c.(556-558)gaG>gaA	p.E186E	GZMB_uc010ama.2_Silent_p.E174E|GZMB_uc010amb.2_Non-coding_Transcript	NM_004131	NP_004122	P10144	GRAB_HUMAN	Homo sapiens granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1) (GZMB), mRNA.	186	Peptidase S1.				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		CCACGCACAACTCAATGGTAC	0.453000													25	122					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185959468	185959468	+	Silent	SNP	C	C	T			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr1:185959468C>T	uc001grq.1	+	21	3499	c.3270C>T	c.(3268-3270)tcC>tcT	p.S1090S	HMCN1_uc001grr.1_Silent_p.S431S	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	1090	Ig-like C2-type 8.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.S1090S(2)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTGAGATCTCCGTCCTTGCAG	0.458000													69	180					0	0	1	0	0
PTPN9	5780	broad.mit.edu	37	15	75798219	75798219	+	Silent	SNP	G	G	A	rs146156674		TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr15:75798219G>A	uc002bal.3	-	6	1273	c.765C>T	c.(763-765)aaC>aaT	p.N255N		NM_002833	NP_002824	P43378	PTN9_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 9 (PTPN9), mRNA.	255						cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTGGGTGGCCGTTCACCTGGG	0.542000													3	53					0	0	1	0	0
WDR85	92715	broad.mit.edu	37	9	140450002	140450002	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr9:140450002G>A	uc004cnk.1	-	8	1206	c.1048C>T	c.(1048-1050)Cgg>Tgg	p.R350W	WDR85_uc004cni.3_Non-coding_Transcript|WDR85_uc004cnj.1_Missense_Mutation_p.R79W|WDR85_uc004cnm.1_Missense_Mutation_p.R111W	NM_138778	NP_620133	Q9BTV6	WDR85_HUMAN	Homo sapiens WD repeat domain 85 (WDR85), mRNA.	350					peptidyl-diphthamide biosynthetic process from peptidyl-histidine					breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	8	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.00029)|Epithelial(140;0.000509)		GAGGGGGCCCGCTGCAGAGAA	0.597000													3	86					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48626825	48626825	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr3:48626825G>A	uc003ctz.2	-	16	2250	c.2249C>T	c.(2248-2250)aCg>aTg	p.T750M		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	750	Fibronectin type-III 6.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CACATGCACCGTATACTCAGT	0.622000													21	58					0	0	1	0	0
ZIC5	85416	broad.mit.edu	37	13	100622586	100622586	+	Silent	SNP	C	C	T			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr13:100622586C>T	uc001vom.1	-	0	1593	c.1344G>A	c.(1342-1344)gaG>gaA	p.E448E		NM_033132	NP_149123	Q96T25	ZIC5_HUMAN	Homo sapiens Zic family member 5 (ZIC5), mRNA.	448					cell differentiation	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTCCCACGTGCTCCACCGTGA	0.677000													16	39					0	0	1	0	0
FAM190B	54462	broad.mit.edu	37	10	86132184	86132184	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr10:86132184C>G	uc010qmd.1	+	1	1570	c.1376C>G	c.(1375-1377)gCc>gGc	p.A459G	FAM190B_uc001kdg.1_Missense_Mutation_p.A459G|FAM190B_uc001kdh.1_Missense_Mutation_p.A459G			Q9H7U1	F190B_HUMAN	Homo sapiens family with sequence similarity 190, member B (FAM190B), mRNA.	459										NS(2)|endometrium(2)|kidney(4)|large_intestine(11)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31						AATGAAAAAGCCTTCAGTAAA	0.328000													5	97					0	0	1	0	0
VPS16	64601	broad.mit.edu	37	20	2846119	2846119	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr20:2846119A>G	uc002whe.3	+	21	2297	c.2249A>G	c.(2248-2250)aAg>aGg	p.K750R	PTPRA_uc002whj.3_Intron|VPS16_uc002whf.3_Missense_Mutation_p.K606R|VPS16_uc002whg.3_Missense_Mutation_p.K436R	NM_022575	NP_072097	Q9H269	VPS16_HUMAN	Homo sapiens vacuolar protein sorting 16 homolog (S. cerevisiae) (VPS16), transcript variant 1, mRNA.	750					intracellular protein transport	HOPS complex|early endosome|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						TCCAAGAGCAAGAAATCACCC	0.562000													14	34					0	0	1	0	0
RFTN1	23180	broad.mit.edu	37	3	16364942	16364942	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr3:16364942G>C	uc003cay.3	-	8	1555	c.1273C>G	c.(1273-1275)Cag>Gag	p.Q425E	RFTN1_uc010hes.3_Missense_Mutation_p.Q389E|OXNAD1_uc003cax.3_Intron|OXNAD1_uc011awb.2_Intron	NM_015150	NP_055965	Q14699	RFTN1_HUMAN	Homo sapiens raftlin, lipid raft linker 1 (RFTN1), mRNA.	425						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						AAGACAATCTGCTTGGTGGAT	0.473000													14	52					0	0	1	0	0
GAB2	9846	broad.mit.edu	37	11	77961404	77961404	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr11:77961404G>A	uc001ozh.3	-	2	521	c.419C>T	c.(418-420)tCt>tTt	p.S140F	GAB2_uc001ozg.3_Missense_Mutation_p.S102F	NM_080491	NP_036428	Q9UQC2	GAB2_HUMAN	Homo sapiens GRB2-associated binding protein 2 (GAB2), transcript variant 1, mRNA.	140					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			AGCTGGAGAAGAGCGGGGGCC	0.517000													28	62					0	0	1	0	0
ASB7	140460	broad.mit.edu	37	15	101169708	101169708	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr15:101169708G>A	uc002bwk.3	+	4	1047	c.278G>A	c.(277-279)cGg>cAg	p.R93Q	ASB7_uc002bwj.3_Missense_Mutation_p.R93Q	NM_198243	NP_937886	Q9H672	ASB7_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 7 (ASB7), transcript variant 2, mRNA.	93					intracellular signal transduction			p.R93W(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)	16	Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)			ATGCATGGCCGGGCCCGCATT	0.483000													3	75					0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106774086	106774087	+	Splice_Site	INS	-	AGTAATACACGGCA	AGTAATACACGGCA			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr14:106774086_106774087insAGTAATACACGGCA	uc021ser.1	-	684		c.18723_splice	c.e684+1							Parts of antibodies, mostly variable regions.																		GCCTCTTGCACGTGTCCTCAGC	0.550													2	4	---	---	---	---					
