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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
GLIS2	84662	broad.mit.edu	37	16	4386949	4386949	+	Silent	SNP	A	C	C			TCGA-D3-A1Q9-06A-11D-A19A-08	TCGA-D3-A1Q9-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f968b693-f462-4779-8784-75e12a72953d	1606c5e3-e3d1-4618-8690-7f6e1e36a54b	g.chr16:4386949A>C	uc002cwc.1	+	5	1065	c.999A>C	c.(997-999)ccA>ccC	p.P333P		NM_032575	NP_115964	Q9BZE0	GLIS2_HUMAN	Homo sapiens GLIS family zinc finger 2 (GLIS2), mRNA.	333					cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding			breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						AGCTGCGCCCACCCCCCAAGC	0.677000														10			7		0	0	0.038147	0	0
TEX15	56154	broad.mit.edu	37	8	30703556	30703556	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A1Q9-06A-11D-A19A-08	TCGA-D3-A1Q9-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f968b693-f462-4779-8784-75e12a72953d	1606c5e3-e3d1-4618-8690-7f6e1e36a54b	g.chr8:30703556A>G	uc003xil.3	-	0	2978	c.2978T>C	c.(2977-2979)cTt>cCt	p.L993P		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	993										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTTTCTGGAAAGACATTTGCT	0.338000														92			37		0	0	0.069456	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887527	12887527	+	Silent	SNP	A	G	G	rs2486716		TCGA-D3-A1Q9-06A-11D-A19A-08	TCGA-D3-A1Q9-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f968b693-f462-4779-8784-75e12a72953d	1606c5e3-e3d1-4618-8690-7f6e1e36a54b	g.chr1:12887527A>G	uc001auk.2	-	2	526	c.330T>C	c.(328-330)ttT>ttC	p.F110F		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	110								p.F110F(2)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						AAAGTTCTACAAACACAGTCA	0.498000														366			6		0	0	0.021553	0	0
FAT1	2195	broad.mit.edu	37	4	187525580	187525580	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q9-06A-11D-A19A-08	TCGA-D3-A1Q9-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f968b693-f462-4779-8784-75e12a72953d	1606c5e3-e3d1-4618-8690-7f6e1e36a54b	g.chr4:187525580G>A	uc003izf.3	-	17	10687	c.10499C>T	c.(10498-10500)tCa>tTa	p.S3500L		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	3500	Cadherin 32.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GATGGCAGATGATGTCAGGAG	0.433000										HNSCC(5;0.00058)				55			5		0	0	0.021553	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117491	117491	+	RNA	SNP	G	C	C			TCGA-D3-A1Q9-06A-11D-A19A-08	TCGA-D3-A1Q9-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f968b693-f462-4779-8784-75e12a72953d	1606c5e3-e3d1-4618-8690-7f6e1e36a54b	g.chrGL000205.1:117491G>C	uc002kgk.4	+	0		c.869G>C								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GTGCAGGTGGGCAGTGGCTAC	0.582000														31			5		0	0	0.014758	0	0
MIB1	57534	broad.mit.edu	37	18	19444569	19444569	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A1Q9-06A-11D-A19A-08	TCGA-D3-A1Q9-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f968b693-f462-4779-8784-75e12a72953d	1606c5e3-e3d1-4618-8690-7f6e1e36a54b	g.chr18:19444569G>C	uc002ktq.3	+	20	2963	c.2963G>C	c.(2962-2964)cGc>cCc	p.R988P	MIB1_uc002ktp.3_Missense_Mutation_p.R627P	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	Homo sapiens mindbomb homolog 1 (Drosophila) (MIB1), mRNA.	988					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			TGTGGAGACCGCATGAGTGAA	0.403000														91			11		0	0	0.069234	0	0
KCNB2	9312	broad.mit.edu	37	8	73849115	73849115	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q9-06A-11D-A19A-08	TCGA-D3-A1Q9-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f968b693-f462-4779-8784-75e12a72953d	1606c5e3-e3d1-4618-8690-7f6e1e36a54b	g.chr8:73849115G>A	uc003xzb.3	+	2	2113	c.1525G>A	c.(1525-1527)Gag>Aag	p.E509K		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	509					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CAAGTCTTTCGAGAATAAGTA	0.542000														70			54		0	0	0.048971	0	0
POTEC	388468	broad.mit.edu	37	18	14543019	14543019	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A1Q9-06A-11D-A19A-08	TCGA-D3-A1Q9-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f968b693-f462-4779-8784-75e12a72953d	1606c5e3-e3d1-4618-8690-7f6e1e36a54b	g.chr18:14543019T>C	uc010dln.3	-	0	581	c.127A>G	c.(127-129)Atg>Gtg	p.M43V	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	43								p.M43I(1)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAAGTGCCCATGTTGCTCTTG	0.587000														172			6		0	0	0.029380	0	0
ITGAV	3685	broad.mit.edu	37	2	187506113	187506113	+	Splice_Site	SNP	T	G	G			TCGA-D3-A1Q9-06A-11D-A19A-08	TCGA-D3-A1Q9-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f968b693-f462-4779-8784-75e12a72953d	1606c5e3-e3d1-4618-8690-7f6e1e36a54b	g.chr2:187506113T>G	uc002upq.3	+	12	1233	c.957_splice	c.e12-1	p.D319_splice	ITGAV_uc010frs.3_Splice_Site_p.D283_splice|ITGAV_uc010zfv.2_Splice_Site_p.D273_splice	NM_002210	NP_002201	P06756	ITAV_HUMAN	Homo sapiens integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51) (ITGAV), transcript variant 1, mRNA.	319					ERK1 and ERK2 cascade|angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		GTTCTTCTAGTTATGCAGATG	0.428000														67			21		0	0	0.049695	0	0
KRTAP4-8	728224	broad.mit.edu	37	17	39254054	39254054	+	Missense_Mutation	SNP	A	T	T	rs76270529	by1000genomes	TCGA-D3-A1Q9-06A-11D-A19A-08	TCGA-D3-A1Q9-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f968b693-f462-4779-8784-75e12a72953d	1606c5e3-e3d1-4618-8690-7f6e1e36a54b	g.chr17:39254054A>T	uc010wfo.2	-	0	322	c.283T>A	c.(283-285)Tgc>Agc	p.C95S		NM_031960	NP_114166	Q9BYQ9	KRA48_HUMAN	Homo sapiens keratin associated protein 4-8 (KRTAP4-8), mRNA.	95	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament		p.C95S(8)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ctggagatgcagcagcTAGGG	0.677000														40			5		0	0	0.021553	0	0
HERC2	8924	broad.mit.edu	37	15	28482110	28482110	+	Splice_Site	SNP	G	A	A			TCGA-D3-A1Q9-06A-11D-A19A-08	TCGA-D3-A1Q9-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f968b693-f462-4779-8784-75e12a72953d	1606c5e3-e3d1-4618-8690-7f6e1e36a54b	g.chr15:28482110G>A	uc001zbj.3	-	26	4109	c.4003_splice	c.e26+1	p.K1335_splice		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	1335					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TTTTCTTACTGGCACATTCAA	0.463000														19			15		0	0	0.038395	0	0
CNTN4	152330	broad.mit.edu	37	3	3076327	3076327	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q9-06A-11D-A19A-08	TCGA-D3-A1Q9-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f968b693-f462-4779-8784-75e12a72953d	1606c5e3-e3d1-4618-8690-7f6e1e36a54b	g.chr3:3076327C>T	uc003bpc.3	+	16	2134	c.1795C>T	c.(1795-1797)Ccc>Tcc	p.P599S	CNTN4_uc003bpb.1_Missense_Mutation_p.P270S|CNTN4_uc021wsg.1_Missense_Mutation_p.P599S|CNTN4_uc003bpd.1_Missense_Mutation_p.P599S|CNTN4_uc003bpe.3_Missense_Mutation_p.P271S|CNTN4_uc003bpf.3_Missense_Mutation_p.P270S	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	599	Fibronectin type-III 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	p.P271S(1)|p.P599S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TCCTCCAGGTCCCCCAGAGGC	0.527000														40			11		0	0	0.093190	0	0
SLC44A1	23446	broad.mit.edu	37	9	108120631	108120631	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A1Q9-06A-11D-A19A-08	TCGA-D3-A1Q9-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f968b693-f462-4779-8784-75e12a72953d	1606c5e3-e3d1-4618-8690-7f6e1e36a54b	g.chr9:108120631C>G	uc004bcn.3	+	6	898	c.677C>G	c.(676-678)tCc>tGc	p.S226C	SLC44A1_uc004bco.1_Missense_Mutation_p.S18C	NM_080546	NP_536856	Q8WWI5	CTL1_HUMAN	Homo sapiens solute carrier family 44, member 1 (SLC44A1), mRNA.	226						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	GCAGTTCTATCCATGATTTTG	0.338000														58			35		0	0	0.069456	0	0
AL117485	0	broad.mit.edu	37	22	18844888	18844888	+	RNA	SNP	A	G	G			TCGA-D3-A1Q9-06A-11D-A19A-08	TCGA-D3-A1Q9-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f968b693-f462-4779-8784-75e12a72953d	1606c5e3-e3d1-4618-8690-7f6e1e36a54b	g.chr22:18844888A>G	uc002zoe.3	+	3		c.2142A>G			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		GCTCACGGAAATACAGCTTCA	0.587000														98			7		0	0	0.029380	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887606	12887606	+	Missense_Mutation	SNP	C	G	G	rs58074988		TCGA-D3-A1Q9-06A-11D-A19A-08	TCGA-D3-A1Q9-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f968b693-f462-4779-8784-75e12a72953d	1606c5e3-e3d1-4618-8690-7f6e1e36a54b	g.chr1:12887606C>G	uc001auk.2	-	2	447	c.251G>C	c.(250-252)tGc>tCc	p.C84S		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	84								p.C84S(2)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						ATTGAGGAAGCACCCATGGGC	0.483000														337			6		0	0	0.021553	0	0
LOC283788	283788	broad.mit.edu	37	GL000219.1	83290	83290	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q9-06A-11D-A19A-08	TCGA-D3-A1Q9-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f968b693-f462-4779-8784-75e12a72953d	1606c5e3-e3d1-4618-8690-7f6e1e36a54b	g.chrGL000219.1:83290C>T	uc022brb.1	-	3	377	c.64G>A	c.(64-66)Ggc>Agc	p.G22S	LOC283788_uc011mfq.2_Non-coding_Transcript					Homo sapiens FSHD region gene 1 pseudogene (LOC283788), non-coding RNA.																		ATAAAGCAGCCATTTGAGGCC	0.363000														11			3		0	0	0.009096	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118114	118114	+	RNA	SNP	C	T	T			TCGA-D3-A1Q9-06A-11D-A19A-08	TCGA-D3-A1Q9-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f968b693-f462-4779-8784-75e12a72953d	1606c5e3-e3d1-4618-8690-7f6e1e36a54b	g.chrGL000205.1:118114C>T	uc002kgk.4	+	0		c.1492C>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		CTCTCACTGCCTGCTACAGCC	0.552000														25			3		0	0	0.004672	0	0
ASPM	259266	broad.mit.edu	37	1	197115395	197115396	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q9-06A-11D-A19A-08	TCGA-D3-A1Q9-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f968b693-f462-4779-8784-75e12a72953d	1606c5e3-e3d1-4618-8690-7f6e1e36a54b	g.chr1:197115395_197115396CC>AA	uc001gtu.3	-	0	429_430	c.172_173GG>TT	c.(172-174)gga>TTa	p.G58L	ASPM_uc001gtv.3_Missense_Mutation_p.G58L|ASPM_uc001gtw.4_5'UTR	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	58					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CCGTGAGGCTCCCAGGAGAACG	0.653000														84			55		0	0	0.004672	0	0
FRG1B	284802	broad.mit.edu	37	20	29625955	29625955	+	Nonsense_Mutation	SNP	A	T	T			TCGA-D3-A1Q9-06A-11D-A19A-08	TCGA-D3-A1Q9-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f968b693-f462-4779-8784-75e12a72953d	1606c5e3-e3d1-4618-8690-7f6e1e36a54b	g.chr20:29625955A>T	uc010ztl.1	+	1	141	c.109A>T	c.(109-111)Aga>Tga	p.R37*	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AATTGGACCAAGAGAACAATG	0.338000														83			5		0	0	0.014758	0	0
C5orf34	375444	broad.mit.edu	37	5	43503827	43503827	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A1Q9-06A-11D-A19A-08	TCGA-D3-A1Q9-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f968b693-f462-4779-8784-75e12a72953d	1606c5e3-e3d1-4618-8690-7f6e1e36a54b	g.chr5:43503827G>T	uc003jnz.2	-	4	1370	c.968C>A	c.(967-969)tCt>tAt	p.S323Y		NM_198566	NP_940968	Q96MH7	CE034_HUMAN	Homo sapiens chromosome 5 open reading frame 34 (C5orf34), mRNA.	323										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					ATATTCATCAGATTGTCTCTG	0.353000														49			53		2.73381e-35	3.27228e-35	0.048971	1	0
BC071797	0	broad.mit.edu	37	21	9769012	9769012	+	RNA	SNP	C	T	T			TCGA-D3-A1Q9-06A-11D-A19A-08	TCGA-D3-A1Q9-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f968b693-f462-4779-8784-75e12a72953d	1606c5e3-e3d1-4618-8690-7f6e1e36a54b	g.chr21:9769012C>T	uc011abu.2	+	9		c.987C>T								Homo sapiens, clone IMAGE:4720764, mRNA.																		ACAAACGCTGCCCTTGAAAAG	0.338000														17			31		0	0	0.069456	0	0
KIAA1033	23325	broad.mit.edu	37	12	105519825	105519825	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A1Q9-06A-11D-A19A-08	TCGA-D3-A1Q9-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f968b693-f462-4779-8784-75e12a72953d	1606c5e3-e3d1-4618-8690-7f6e1e36a54b	g.chr12:105519825C>A	uc010swr.2	+	10	917	c.830C>A	c.(829-831)tCt>tAt	p.S277Y	KIAA1033_uc001tld.3_Missense_Mutation_p.S277Y|KIAA1033_uc010sws.2_Missense_Mutation_p.S89Y	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN	Homo sapiens KIAA1033 (KIAA1033), mRNA.	277					endosome transport	WASH complex		p.S277S(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						GGAGGAGTATCTGTGTCAAAA	0.328000														17			7		3.09899e-07	3.54811e-07	0.047766	1	0
CD9	928	broad.mit.edu	37	12	6344610	6344610	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A1Q9-06A-11D-A19A-08	TCGA-D3-A1Q9-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f968b693-f462-4779-8784-75e12a72953d	1606c5e3-e3d1-4618-8690-7f6e1e36a54b	g.chr12:6344610C>G	uc010sev.2	+	4	748	c.564C>G	c.(562-564)ttC>ttG	p.F188L	CD9_uc001qnq.2_Intron			P21926	CD9_HUMAN	Homo sapiens CD9 molecule (CD9), mRNA.	0					cell adhesion|cellular component movement|fusion of sperm to egg plasma membrane|paranodal junction assembly|platelet activation|platelet degranulation	integral to plasma membrane|platelet alpha granule membrane				endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	8						CAATTTGTTTCTCTCATCCCC	0.512000														44			12		0	0	0.093190	0	0
TDRD1	56165	broad.mit.edu	37	10	115980454	115980454	+	Silent	SNP	C	T	T			TCGA-D3-A1Q9-06A-11D-A19A-08	TCGA-D3-A1Q9-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f968b693-f462-4779-8784-75e12a72953d	1606c5e3-e3d1-4618-8690-7f6e1e36a54b	g.chr10:115980454C>T	uc001lbg.1	+	18	2775	c.2622C>T	c.(2620-2622)acC>acT	p.T874T	TDRD1_uc001lbf.3_Silent_p.T751T|TDRD1_uc001lbh.1_Silent_p.T865T|TDRD1_uc001lbi.1_Silent_p.T865T|TDRD1_uc010qsc.2_Silent_p.T478T|TDRD1_uc001lbj.3_Silent_p.T583T	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	Homo sapiens tudor domain containing 1 (TDRD1), mRNA.	874					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TTGAACTCACCGATCTCTCCA	0.393000														25			9		0	0	0.058154	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110439320	110439320	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A1Q9-06A-11D-A19A-08	TCGA-D3-A1Q9-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f968b693-f462-4779-8784-75e12a72953d	1606c5e3-e3d1-4618-8690-7f6e1e36a54b	g.chr8:110439320A>G	uc003yne.3	+	24	3039	c.2935A>G	c.(2935-2937)Acc>Gcc	p.T979A		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	979					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACGAGAGGGAACCTGTGCTGG	0.522000										HNSCC(38;0.096)				45			32		0	0	0.045705	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130218329	130218329	+	Silent	SNP	G	A	A			TCGA-D3-A1Q9-06A-11D-A19A-08	TCGA-D3-A1Q9-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f968b693-f462-4779-8784-75e12a72953d	1606c5e3-e3d1-4618-8690-7f6e1e36a54b	g.chrX:130218329G>A	uc004evz.3	+	4	1041	c.696G>A	c.(694-696)gcG>gcA	p.A232A	ARHGAP36_uc004ewa.3_Silent_p.A220A|ARHGAP36_uc004ewb.3_Silent_p.A201A|ARHGAP36_uc004ewc.3_Silent_p.A96A	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.	232	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.A232V(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						ATCCGATTGCGAAACAAATCC	0.468000														7			24		0	0	0.076483	0	0
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	G	G	rs9424867		TCGA-D3-A1Q9-06A-11D-A19A-08	TCGA-D3-A1Q9-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f968b693-f462-4779-8784-75e12a72953d	1606c5e3-e3d1-4618-8690-7f6e1e36a54b	g.chr1:145302714A>G	uc021oul.1	+	7	1187	c.1152A>G	c.(1150-1152)ttA>ttG	p.L384L	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_Silent_p.L384L|NBPF10_uc010oyi.2_5'UTR|NBPF10_uc001emq.1_Silent_p.L113L|NBPF10_uc021oum.1_5'Flank	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	384								p.L384L(6)|p.L113L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527000														37			8		0	0	0.038147	0	0
NUP88	4927	broad.mit.edu	37	17	5290080	5290080	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A1Q9-06A-11D-A19A-08	TCGA-D3-A1Q9-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f968b693-f462-4779-8784-75e12a72953d	1606c5e3-e3d1-4618-8690-7f6e1e36a54b	g.chr17:5290080T>A	uc010vsx.2	-	15	2247	c.2158A>T	c.(2158-2160)Att>Ttt	p.I720F	NUP88_uc002gbn.3_5'Flank|NUP88_uc002gbo.2_Missense_Mutation_p.I704F	NM_002532	NP_002523	Q99567	NUP88_HUMAN	Homo sapiens nucleoporin 88kDa (NUP88), mRNA.	704					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						CTGAGAATAATGGTGGGTTTT	0.363000														60			39		0	0	0.111260	0	0
PTPN22	26191	broad.mit.edu	37	1	114380371	114380371	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q9-06A-11D-A19A-08	TCGA-D3-A1Q9-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f968b693-f462-4779-8784-75e12a72953d	1606c5e3-e3d1-4618-8690-7f6e1e36a54b	g.chr1:114380371G>A	uc001eds.3	-	12	1781	c.1651C>T	c.(1651-1653)Ctt>Ttt	p.L551F	PTPN22_uc021orx.1_Missense_Mutation_p.L551F|PTPN22_uc009wgq.3_Missense_Mutation_p.L496F|PTPN22_uc021ory.1_Missense_Mutation_p.L527F|PTPN22_uc010owo.2_Missense_Mutation_p.L307F|PTPN22_uc001edt.3_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.L551F|PTPN22_uc009wgs.2_Missense_Mutation_p.L424F|PTPN22_uc001edu.2_Missense_Mutation_p.L551F	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 22 (lymphoid) (PTPN22), transcript variant 1, mRNA.	551					T cell differentiation|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	SH3 domain binding|kinase binding|protein tyrosine phosphatase activity			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGTAAATCAAGAGACATCTTA	0.383000														28			15		0	0	0.024245	0	0
DRD5	1816	broad.mit.edu	37	4	9784929	9784929	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A1Q9-06A-11D-A19A-08	TCGA-D3-A1Q9-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f968b693-f462-4779-8784-75e12a72953d	1606c5e3-e3d1-4618-8690-7f6e1e36a54b	g.chr4:9784929G>C	uc003gmb.4	+	0	1672	c.1276G>C	c.(1276-1278)Gac>Cac	p.D426H		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	426					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CCGGGAGGTGGACAACGACGA	0.567000														64			10		0	0	0.058154	0	0
FRMD4B	23150	broad.mit.edu	37	3	69221132	69221132	+	Splice_Site	SNP	T	C	C			TCGA-D3-A1Q9-06A-11D-A19A-08	TCGA-D3-A1Q9-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f968b693-f462-4779-8784-75e12a72953d	1606c5e3-e3d1-4618-8690-7f6e1e36a54b	g.chr3:69221132T>C	uc003dnv.2	-	23	3275	c.2985_splice	c.e23-1	p.R995_splice	FRMD4B_uc003dnw.2_Splice_Site|FRMD4B_uc003dnu.2_Splice_Site_p.R647_splice|FRMD4B_uc011bga.1_Splice_Site_p.R839_splice	NM_015123	NP_055938	Q9Y2L6	FRM4B_HUMAN	Homo sapiens FERM domain containing 4B (FRMD4B), mRNA.	995						cytoplasm|cytoskeleton	binding			NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		CTGTGTATTGTCTATTAAAGA	0.393000														64			70		0	0	0.048971	0	0
BRD7	29117	broad.mit.edu	37	16	50357602	50357602	+	Nonsense_Mutation	SNP	C	A	A			TCGA-D3-A1Q9-06A-11D-A19A-08	TCGA-D3-A1Q9-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f968b693-f462-4779-8784-75e12a72953d	1606c5e3-e3d1-4618-8690-7f6e1e36a54b	g.chr16:50357602C>A	uc021thx.1	-	11	1499	c.1339G>T	c.(1339-1341)Gag>Tag	p.E447*	BRD7_uc002ege.2_Nonsense_Mutation_p.E447*	NM_013263	NP_037395	Q9NPI1	BRD7_HUMAN	Homo sapiens bromodomain containing 7 (BRD7), transcript variant 2, mRNA.	447					Wnt receptor signaling pathway|cell cycle|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	p.E447G(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				GCCAAAAACTCATGGATGCTG	0.458000														11			22		1.96292e-10	2.31449e-10	0.055883	1	0
DCAF8	50717	broad.mit.edu	37	1	160253385	160253385	+	Missense_Mutation	SNP	G	A	A	rs144256391	byFrequency	TCGA-D3-A1Q9-06A-11D-A19A-08	TCGA-D3-A1Q9-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f968b693-f462-4779-8784-75e12a72953d	1606c5e3-e3d1-4618-8690-7f6e1e36a54b	g.chr1:160253385G>A	uc001fvs.2	-	1	142	c.115C>T	c.(115-117)Cct>Tct	p.P39S	DCAF8_uc010pjc.1_Intron|DCAF8_uc021pbq.1_Missense_Mutation_p.P39S|DCAF8_uc010pje.1_Non-coding_Transcript|DCAF8_uc001fvt.2_Intron	NM_002857	NP_002848	Q5TAQ9	DCAF8_HUMAN	Homo sapiens peroxisomal biogenesis factor 19 (PEX19), transcript variant 1, mRNA.	0						CUL4 RING ubiquitin ligase complex	protein binding	p.G38D(1)		cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						GTGGTAGAAGGGGGTGCTGGG	0.547000														37			30		0	0	0.037714	0	0
AL117485	0	broad.mit.edu	37	22	18844763	18844763	+	RNA	SNP	T	C	C			TCGA-D3-A1Q9-06A-11D-A19A-08	TCGA-D3-A1Q9-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f968b693-f462-4779-8784-75e12a72953d	1606c5e3-e3d1-4618-8690-7f6e1e36a54b	g.chr22:18844763T>C	uc002zoe.3	+	3		c.2017T>C			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		TCACAGCCTCTGAGGGCAGCA	0.562000														15			3		0	0	0.009096	0	0
RPS16	6217	broad.mit.edu	37	19	39924009	39924009	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A1Q9-06A-11D-A19A-08	TCGA-D3-A1Q9-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f968b693-f462-4779-8784-75e12a72953d	1606c5e3-e3d1-4618-8690-7f6e1e36a54b	g.chr19:39924009A>G	uc002olm.3	-	3	523	c.440T>C	c.(439-441)aTg>aCg	p.M147T	RPS16_uc002olk.3_Silent_p.Y115Y|RPS16_uc002oll.3_Silent_p.Y98Y			P62249	RS16_HUMAN	Homo sapiens ribosomal protein S16 (RPS16), mRNA.	0					endocrine pancreas development|rRNA processing|ribosomal small subunit biogenesis|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	RNA binding|protein binding|structural constituent of ribosome			central_nervous_system(1)|large_intestine(2)|lung(2)|skin(2)	7	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;4.14e-26)|all cancers(26;2.68e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGGTCCGGTCATACTGGATGA	0.537000														60			17		0	0	0.038395	0	0
HNRNPH1	3187	broad.mit.edu	37	5	179050094	179050094	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A1Q9-06A-11D-A19A-08	TCGA-D3-A1Q9-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f968b693-f462-4779-8784-75e12a72953d	1606c5e3-e3d1-4618-8690-7f6e1e36a54b	g.chr5:179050094T>G	uc021yjd.1	-	0	72	c.41A>C	c.(40-42)aAg>aCg	p.K14T	HNRNPH1_uc003mkf.4_Missense_Mutation_p.K14T|HNRNPH1_uc003mkg.4_5'UTR|HNRNPH1_uc003mke.4_Missense_Mutation_p.K14T|HNRNPH1_uc003mkh.4_Missense_Mutation_p.K14T|HNRNPH1_uc021yje.1_5'Flank	NM_005520	NP_005511	P31943	HNRH1_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein H1 (H) (HNRNPH1), mRNA.	14	RRM 1.				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						GCCCCGGACCTTCACCACGAA	0.582000														29			13		0	0	0.033300	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887612	12887612	+	Missense_Mutation	SNP	T	C	C	rs60558629		TCGA-D3-A1Q9-06A-11D-A19A-08	TCGA-D3-A1Q9-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f968b693-f462-4779-8784-75e12a72953d	1606c5e3-e3d1-4618-8690-7f6e1e36a54b	g.chr1:12887612T>C	uc001auk.2	-	2	441	c.245A>G	c.(244-246)cAt>cGt	p.H82R		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	82								p.H82R(2)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GAAGCACCCATGGGCCATAGC	0.488000														356			7		0	0	0.029380	0	0
ITGAD	3681	broad.mit.edu	37	16	31425790	31425790	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A1Q9-06A-11D-A19A-08	TCGA-D3-A1Q9-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f968b693-f462-4779-8784-75e12a72953d	1606c5e3-e3d1-4618-8690-7f6e1e36a54b	g.chr16:31425790T>C	uc010cap.1	+	16	2067	c.2018T>C	c.(2017-2019)gTc>gCc	p.V673A	ITGAD_uc002ebv.1_Missense_Mutation_p.V672A	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	672					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CAAAGCTCTGTCAGGTTTGAT	0.448000														93			97		0	0	0.048971	0	0
CEACAM19	56971	broad.mit.edu	37	19	45176143	45176143	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q9-06A-11D-A19A-08	TCGA-D3-A1Q9-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f968b693-f462-4779-8784-75e12a72953d	1606c5e3-e3d1-4618-8690-7f6e1e36a54b	g.chr19:45176143C>T	uc002ozo.4	+	1	811	c.331C>T	c.(331-333)Cgc>Tgc	p.R111C	CEACAM19_uc002ozp.4_Missense_Mutation_p.R111C	NM_020219	NP_064604	Q7Z692	CEA19_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 19 (CEACAM19), transcript variant 2, mRNA.	111						integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	11	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)				GCTGCTGCGCCGCGCCCAGCC	0.557000														355			156		0	0	0.048971	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-D3-A1Q9-06A-11D-A19A-08	TCGA-D3-A1Q9-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f968b693-f462-4779-8784-75e12a72953d	1606c5e3-e3d1-4618-8690-7f6e1e36a54b	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					43			30		0	0	0.041601	0	0
ASXL3	80816	broad.mit.edu	37	18	31324386	31324386	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A1Q9-06A-11D-A19A-08	TCGA-D3-A1Q9-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f968b693-f462-4779-8784-75e12a72953d	1606c5e3-e3d1-4618-8690-7f6e1e36a54b	g.chr18:31324386C>G	uc010dmg.1	+	11	4629	c.4574C>G	c.(4573-4575)cCt>cGt	p.P1525R	ASXL3_uc002kxq.2_Missense_Mutation_p.P1232R	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1525					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ATTAGCAGGCCTGAGCCAGTT	0.542000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		42			7		0	0	0.029380	0	0
COX7A2	1347	broad.mit.edu	37	6	75950901	75950901	+	Silent	SNP	T	C	C			TCGA-D3-A1Q9-06A-11D-A19A-08	TCGA-D3-A1Q9-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f968b693-f462-4779-8784-75e12a72953d	1606c5e3-e3d1-4618-8690-7f6e1e36a54b	g.chr6:75950901T>C	uc003phv.2	-	1	293	c.195A>G	c.(193-195)aaA>aaG	p.K65K	COX7A2_uc021zbx.1_Non-coding_Transcript	NM_001865	NP_001856	P14406	CX7A2_HUMAN	Homo sapiens cytochrome c oxidase subunit VIIa polypeptide 2 (liver) (COX7A2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	33						mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity			kidney(2)|lung(1)	3						CCTGGAACAGTTTTTGCTTCT	0.343000														88			4		0	0	0.021553	0	0
IL7R	3575	broad.mit.edu	37	5	35875627	35875627	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q9-06A-11D-A19A-08	TCGA-D3-A1Q9-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f968b693-f462-4779-8784-75e12a72953d	1606c5e3-e3d1-4618-8690-7f6e1e36a54b	g.chr5:35875627G>A	uc003jjs.3	+	6	903	c.814G>A	c.(814-816)Gta>Ata	p.V272I	IL7R_uc011coo.2_Silent_p.S240S|IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	272					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TAAGCCTATCGTATGGCCCAG	0.428000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							25			8		0	0	0.058154	0	0
PLCB1	23236	broad.mit.edu	37	20	8665706	8665706	+	Silent	SNP	G	A	A			TCGA-D3-A1Q9-06A-11D-A19A-08	TCGA-D3-A1Q9-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f968b693-f462-4779-8784-75e12a72953d	1606c5e3-e3d1-4618-8690-7f6e1e36a54b	g.chr20:8665706G>A	uc002wnb.3	+	9	993	c.990G>A	c.(988-990)tcG>tcA	p.S330S	PLCB1_uc010zrb.1_Silent_p.S229S|PLCB1_uc002wna.3_Silent_p.S330S|PLCB1_uc002wnc.1_Silent_p.S229S	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	330	PI-PLC X-box.				CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TTAATTCCTCGCACAACACCT	0.418000														65			50		0	0	0.048971	0	0
STARD8	9754	broad.mit.edu	37	X	67940175	67940175	+	Silent	SNP	A	C	C			TCGA-D3-A1Q9-06A-11D-A19A-08	TCGA-D3-A1Q9-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f968b693-f462-4779-8784-75e12a72953d	1606c5e3-e3d1-4618-8690-7f6e1e36a54b	g.chrX:67940175A>C	uc004dxb.3	+	7	2173	c.1959A>C	c.(1957-1959)ccA>ccC	p.P653P	STARD8_uc004dxa.3_Silent_p.P573P|STARD8_uc004dxc.4_Silent_p.P573P	NM_001142503	NP_055540	Q92502	STAR8_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 8 (STARD8), transcript variant 1, mRNA.	573	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	p.P573P(4)|p.P653P(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						TTGGGGTGCCACCCCTCATCC	0.577000														17			5		0	0	0.014758	0	0
PC	5091	broad.mit.edu	37	11	66616543	66616543	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A1Q9-06A-11D-A19A-08	TCGA-D3-A1Q9-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f968b693-f462-4779-8784-75e12a72953d	1606c5e3-e3d1-4618-8690-7f6e1e36a54b	g.chr11:66616543C>G	uc001ojn.1	-	20	3413	c.3364G>C	c.(3364-3366)Gac>Cac	p.D1122H	PC_uc001ojo.1_Missense_Mutation_p.D1122H|PC_uc001ojp.1_Missense_Mutation_p.D1122H	NM_022172	NP_071504	P11498	PYC_HUMAN	Homo sapiens pyruvate carboxylase (PC), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	1122	Biotinyl-binding.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	ACTTTGATGTCTATCACCTTC	0.612000														75			178		0	0	0.048971	0	0
PARP4	143	broad.mit.edu	37	13	25077906	25077906	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A1Q9-06A-11D-A19A-08	TCGA-D3-A1Q9-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f968b693-f462-4779-8784-75e12a72953d	1606c5e3-e3d1-4618-8690-7f6e1e36a54b	g.chr13:25077906C>A	uc001upl.3	-	1	115	c.9G>T	c.(7-9)atG>atT	p.M3I	PARP4_uc010tdc.2_Missense_Mutation_p.M3I	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA.	3	BRCT.				DNA repair|cell death|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|NAD+ ADP-ribosyltransferase activity|enzyme binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CAAAGATTCCCATCACCATCC	0.353000														24			17		5.35267e-07	6.04087e-07	0.043863	1	0
ZNF277	11179	broad.mit.edu	37	7	111958309	111958309	+	Missense_Mutation	SNP	G	A	A	rs143437932	byFrequency	TCGA-D3-A1Q9-06A-11D-A19A-08	TCGA-D3-A1Q9-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f968b693-f462-4779-8784-75e12a72953d	1606c5e3-e3d1-4618-8690-7f6e1e36a54b	g.chr7:111958309G>A	uc003vge.2	+	4	667	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K	ZNF277_uc003vgd.3_Missense_Mutation_p.E180K|ZNF277_uc003vgf.2_Missense_Mutation_p.E102K	NM_021994	NP_068834	Q9NRM2	ZN277_HUMAN	Homo sapiens zinc finger protein 277 (ZNF277), mRNA.	180						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						GTTTTGCAATGAAGAATTCCT	0.333000														26			18		0	0	0.038395	0	0
FPR3	2359	broad.mit.edu	37	19	52327145	52327145	+	Silent	SNP	C	A	A			TCGA-D3-A1Q9-06A-11D-A19A-08	TCGA-D3-A1Q9-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f968b693-f462-4779-8784-75e12a72953d	1606c5e3-e3d1-4618-8690-7f6e1e36a54b	g.chr19:52327145C>A	uc002pxt.1	+	1	328	c.144C>A	c.(142-144)atC>atA	p.I48I	FPR3_uc021uyq.1_Silent_p.I48I	NM_002030	NP_002021	P25089	FPR3_HUMAN	Homo sapiens formyl peptide receptor 3 (FPR3), mRNA.	48					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						GGCTTGTGATCTGGGTGGCTG	0.552000														53			27		1.7881e-09	2.07735e-09	0.037714	1	0
PTRF	284119	broad.mit.edu	37	17	40574746	40574746	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q9-06A-11D-A19A-08	TCGA-D3-A1Q9-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f968b693-f462-4779-8784-75e12a72953d	1606c5e3-e3d1-4618-8690-7f6e1e36a54b	g.chr17:40574746C>T	uc002hzo.3	-	0	593	c.370G>A	c.(370-372)Gtg>Atg	p.V124M	PTRF_uc010wgi.2_Missense_Mutation_p.V106M	NM_012232	NP_036364	Q6NZI2	PTRF_HUMAN	Homo sapiens polymerase I and transcript release factor (PTRF), mRNA.	124					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		CTGCCGCGCACGGTCTTCACG	0.632000														10			9		0	0	0.058154	0	0
FBN1	2200	broad.mit.edu	37	15	48704920	48704920	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q9-06A-11D-A19A-08	TCGA-D3-A1Q9-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f968b693-f462-4779-8784-75e12a72953d	1606c5e3-e3d1-4618-8690-7f6e1e36a54b	g.chr15:48704920C>T	uc001zwx.2	-	64	8467	c.8072G>A	c.(8071-8073)gGc>gAc	p.G2691D	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	2691					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	p.G2691R(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TCGGCCCATGCCCATTCCAGA	0.502000														175			4		0	0	0.014758	0	0
POGZ	23126	broad.mit.edu	37	1	151381178	151381179	+	Frame_Shift_Ins	INS	-	TGGT	TGGT			TCGA-D3-A1Q9-06A-11D-A19A-08	TCGA-D3-A1Q9-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f968b693-f462-4779-8784-75e12a72953d	1606c5e3-e3d1-4618-8690-7f6e1e36a54b	g.chr1:151381178_151381179insTGGT	uc001eyd.2	-	12	2367_2368	c.2052_2053insACCA	c.(2050-2055)ccaggcfs	p.P684fs	POGZ_uc021oyq.1_Frame_Shift_Ins_p.P631fs|POGZ_uc010pdb.2_Frame_Shift_Ins_p.P675fs|POGZ_uc010pdc.2_Frame_Shift_Ins_p.P622fs|POGZ_uc009wmv.2_Frame_Shift_Ins_p.P589fs|POGZ_uc001eyf.2_Frame_Shift_Ins_p.P640fs|POGZ_uc010pdd.2_Frame_Shift_Ins_p.P175fs	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	Homo sapiens pogo transposable element with ZNF domain (POGZ), transcript variant 1, mRNA.	684					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ACCTTGGTGCCTGGTTTCAAGC	0.450													---	253	---	---	139	---					
OGDH	4967	broad.mit.edu	37	7	44684936	44684936	+	Frame_Shift_Del	DEL	T	-	-			TCGA-D3-A1Q9-06A-11D-A19A-08	TCGA-D3-A1Q9-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f968b693-f462-4779-8784-75e12a72953d	1606c5e3-e3d1-4618-8690-7f6e1e36a54b	g.chr7:44684936delT	uc003tln.3	+	2	392	c.233delT	c.(232-234)attfs	p.I78fs	OGDH_uc003tlm.3_Frame_Shift_Del_p.I78fs|OGDH_uc011kbx.2_Frame_Shift_Del_p.I78fs|OGDH_uc011kby.2_Intron|OGDH_uc003tlp.3_Frame_Shift_Del_p.I78fs|OGDH_uc011kbz.2_5'UTR|OGDH_uc003tlo.1_5'UTR	NM_002541	NP_002532	Q02218	ODO1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	78					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.R81fs*19(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	TCATGGGACATTTTTTTTCGC	0.577													---	212	---	---	7	---					
LILRP2	79166	broad.mit.edu	37	19	55221804	55221805	+	RNA	INS	-	AC	AC	rs45583536		TCGA-D3-A1Q9-06A-11D-A19A-08	TCGA-D3-A1Q9-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f968b693-f462-4779-8784-75e12a72953d	1606c5e3-e3d1-4618-8690-7f6e1e36a54b	g.chr19:55221804_55221805insAC	uc002qgs.1	+	0		c.2204_2205insAC			LILRP2_uc002qgt.1_Intron					Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.																		CAGAGACAGAGACTGAGGGTCC	0.614													---	4	---	---	5	---