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
SPTA1	6708	broad.mit.edu	37	1	158626393	158626393	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr1:158626393G>C	ENST00000368147.4	-	20	3039	c.2859C>G	c.(2857-2859)gaC>gaG	p.D953E		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						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	p.D953E(1)		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)					CTTTCATACTGTCTCCAAATG	0.413													71	181	---	---	---	---
ASTN1	460	broad.mit.edu	37	1	177001717	177001717	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr1:177001717G>C	ENST00000367654.3	-	3	951	c.740C>G	c.(739-741)aCt>aGt	p.T247S	ASTN1_ENST00000367657.3_Missense_Mutation_p.T247S|ASTN1_ENST00000361833.2_Missense_Mutation_p.T247S|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.T247S	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1						cell migration|neuron cell-cell adhesion	integral to membrane		p.T247S(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GCGCAGATCAGTGATGTCATA	0.622													18	106	---	---	---	---
UQCRC1	7384	broad.mit.edu	37	3	48638151	48638151	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr3:48638151C>T	ENST00000203407.5	-	9	1505	c.1089G>A	c.(1087-1089)atG>atA	p.M363I		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	363					aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding	p.M363I(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	Atovaquone(DB01117)	CATCGATTTTCATTCGGTCAC	0.542													14	92	---	---	---	---
PPARGC1B	133522	broad.mit.edu	37	5	149212486	149212486	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr5:149212486A>T	ENST00000309241.5	+	5	882	c.850A>T	c.(850-852)Atg>Ttg	p.M284L	PPARGC1B_ENST00000360453.4_Missense_Mutation_p.M245L|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.M220L|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.M284L	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	284					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	p.M284L(2)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CCAGGAAGACATGCAGGCGAT	0.672													31	87	---	---	---	---
SLC26A2	1836	broad.mit.edu	37	5	149360521	149360521	+	Silent	SNP	T	T	A			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr5:149360521T>A	ENST00000286298.4	+	3	1633	c.1365T>A	c.(1363-1365)ctT>ctA	p.L455L		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	455						integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity	p.L455L(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ATACTCAGCTTTCTGGTGTGG	0.418													39	92	---	---	---	---
NKAPL	222698	broad.mit.edu	37	6	28227527	28227527	+	Silent	SNP	G	G	A			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr6:28227527G>A	ENST00000343684.3	+	1	430	c.378G>A	c.(376-378)gaG>gaA	p.E126E		NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	126								p.E126E(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						AGGAGAGAGAGAGGATTGGGG	0.542													38	73	---	---	---	---
WNT2	7472	broad.mit.edu	37	7	116937778	116937778	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr7:116937778G>C	ENST00000265441.3	-	4	1040	c.741C>G	c.(739-741)aaC>aaG	p.N247K		NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	247					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	p.N247K(1)		breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		TGCCATCCTGGTTCATGACCA	0.498													61	120	---	---	---	---
PRSS58	136541	broad.mit.edu	37	7	141955370	141955370	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr7:141955370G>A	ENST00000552471.1	-	2	483	c.164C>T	c.(163-165)gCa>gTa	p.A55V	PRSS58_ENST00000547058.2_Missense_Mutation_p.A55V			Q8IYP2	PRS58_HUMAN	protease, serine, 58	55	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.A55V(2)		kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						ATTGCAGTGTGCAGCTGTGAT	0.522													33	78	---	---	---	---
C10orf71	118461	broad.mit.edu	37	10	50531524	50531524	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr10:50531524C>A	ENST00000374144.3	+	3	1222	c.934C>A	c.(934-936)Cta>Ata	p.L312I	C10orf71_ENST00000323868.4_Missense_Mutation_p.L312I			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	312								p.L312I(2)		endometrium(1)	1						CACGACCTTGCTAAGAGAACC	0.577													3	65	---	---	---	---
FOLH1	2346	broad.mit.edu	37	11	49168464	49168464	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr11:49168464C>G	ENST00000340334.7	-	20	2420	c.2052G>C	c.(2050-2052)aaG>aaC	p.K684N	FOLH1_ENST00000343844.4_Missense_Mutation_p.K391N|FOLH1_ENST00000533034.1_Missense_Mutation_p.K653N|FOLH1_ENST00000256999.2_Missense_Mutation_p.K699N|FOLH1_ENST00000356696.3_Missense_Mutation_p.K668N	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	699					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	CCCCTGCATACTTGTTGTGGC	0.428													4	205	---	---	---	---
OR4C13	283092	broad.mit.edu	37	11	49974537	49974537	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr11:49974537C>T	ENST00000555099.1	+	1	595	c.563C>T	c.(562-564)aCt>aTt	p.T188I		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T188I(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						CTTGCCTGCACTAATACCCAC	0.438													73	202	---	---	---	---
MYO7A	4647	broad.mit.edu	37	11	76868351	76868351	+	Silent	SNP	G	G	A			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr11:76868351G>A	ENST00000409709.3	+	8	1034	c.762G>A	c.(760-762)gtG>gtA	p.V254V	MYO7A_ENST00000409619.2_Silent_p.V243V|MYO7A_ENST00000458637.2_Silent_p.V254V|MYO7A_ENST00000409893.1_Silent_p.V254V	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	254	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.V254V(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ACTACCACGTGTTCTACTGCA	0.582													11	14	---	---	---	---
VWF	7450	broad.mit.edu	37	12	6172165	6172165	+	Silent	SNP	C	C	T			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr12:6172165C>T	ENST00000261405.5	-	13	1742	c.1488G>A	c.(1486-1488)gaG>gaA	p.E496E		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	496	VWFD 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	p.E496E(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCTGCAGGTCCTCCCCGTAGC	0.657											OREG0021618	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	21	---	---	---	---
NAA25	80018	broad.mit.edu	37	12	112516059	112516059	+	Silent	SNP	A	A	G			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr12:112516059A>G	ENST00000261745.4	-	7	845	c.597T>C	c.(595-597)taT>taC	p.Y199Y		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	199						cytoplasm	protein binding	p.Y199Y(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						GGATCATATAATAAAGTTCAA	0.299													7	163	---	---	---	---
FBN1	2200	broad.mit.edu	37	15	48736776	48736776	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr15:48736776C>A	ENST00000316623.5	-	49	6454	c.5999G>T	c.(5998-6000)tGc>tTc	p.C2000F		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2000	EGF-like 34; calcium-binding.				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.C2000F(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)		TCCAGGTGGGCAAATGCATCT	0.433													58	118	---	---	---	---
DMXL2	23312	broad.mit.edu	37	15	51855614	51855614	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr15:51855614C>T	ENST00000251076.5	-	6	818	c.531G>A	c.(529-531)tgG>tgA	p.W177*	DMXL2_ENST00000543779.2_Nonsense_Mutation_p.W177*|DMXL2_ENST00000560421.1_5'UTR|DMXL2_ENST00000449909.3_Nonsense_Mutation_p.W177*	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	177						cell junction|synaptic vesicle membrane	Rab GTPase binding	p.W177*(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CATCAGGAGACCATTCCATCA	0.308													3	72	---	---	---	---
USP22	23326	broad.mit.edu	37	17	20910262	20910262	+	Silent	SNP	G	G	A			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr17:20910262G>A	ENST00000261497.4	-	10	1472	c.1269C>T	c.(1267-1269)acC>acT	p.T423T	USP22_ENST00000455117.2_Intron|USP22_ENST00000537526.2_Silent_p.T411T	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN	ubiquitin specific peptidase 22	423					cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.T645T(1)		endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						ACACATACGTGGTGATCTTCC	0.547													4	25	---	---	---	---
ST6GALNAC2	10610	broad.mit.edu	37	17	74562331	74562331	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr17:74562331G>A	ENST00000225276.5	-	9	1299	c.980C>T	c.(979-981)aCa>aTa	p.T327I		NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	327					protein glycosylation	integral to Golgi membrane	sialyltransferase activity	p.T327I(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						GTAGTTGCTTGTGATGAATCC	0.448													78	155	---	---	---	---
LILRB1	10859	broad.mit.edu	37	19	55148263	55148263	+	Silent	SNP	T	T	G			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr19:55148263T>G	ENST00000396331.1	+	16	2244	c.1887T>G	c.(1885-1887)ccT>ccG	p.P629P	LILRB1_ENST00000427581.2_Silent_p.P680P|LILRB1_ENST00000324602.7_Silent_p.P631P|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000418536.2_Silent_p.P613P|LILRB1_ENST00000396332.4_Silent_p.P630P|LILRB1_ENST00000434867.2_Silent_p.P629P|LILRB1_ENST00000396327.3_Silent_p.P630P|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396315.1_Silent_p.P631P|LILRB1_ENST00000396321.2_Silent_p.P629P|LILRB1_ENST00000396317.1_Silent_p.P613P	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	629					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CAACTGAGCCTCCTCCATCCC	0.652										HNSCC(37;0.09)			4	65	---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152329411	152329415	+	Frame_Shift_Del	DEL	TTGCT	TTGCT	-			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr1:152329411_152329415delTTGCT	ENST00000388718.5	-	3	919_923	c.847_851delAGCAA	c.(847-852)agcaatfs	p.SN283fs	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	283	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCACTTGAATTGCTATAACCACAT	0.429													78	272	---	---	---	---
