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	qox	pox_cutoff	pox	oxoGCut	isArtifactMode	t_ref_count	t_alt_count
CASP14	23581	broad.mit.edu	37	19	15166255	15166255	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr19:15166255C>T	uc010dzv.2	+	5	747	c.535C>T	c.(535-537)Cga>Tga	p.R179*		NM_012114	NP_036246	P31944	CASPE_HUMAN	Homo sapiens caspase 14, apoptosis-related cysteine peptidase (CASP14), mRNA.	179					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity	p.R179*(2)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						CATCGCCTACCGACATGATCA	0.537													0	1	0	0	0	105	3
LAMA2	3908	broad.mit.edu	37	6	129588337	129588337	+	Silent	SNP	C	A	A			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr6:129588337C>A	uc021zfb.1	+	15	2400	c.2295C>A	c.(2293-2295)tcC>tcA	p.S765S	LAMA2_uc003qbn.3_Silent_p.S765S|LAMA2_uc003qbo.3_Silent_p.S765S	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	765	Laminin EGF-like 6.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.S765Y(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATGCGGAGTCCTGTGATGACG	0.488													3.17E-04	1	2.48E-04	0	1	227	4
HS3ST5	222537	broad.mit.edu	37	6	114379018	114379018	+	Silent	SNP	A	G	G			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr6:114379018A>G	uc003pwg.4	-	1	476	c.444T>C	c.(442-444)ccT>ccC	p.P148P	BC042098_uc003pwf.3_Intron|HS3ST5_uc003pwh.4_Silent_p.P148P	NM_153612	NP_705840	Q8IZT8	HS3S5_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 5 (HS3ST5), mRNA.	148					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		TGATTTGCTGAGGGTAGGAAA	0.373													0	1	0	0	0	133	67
C11orf65	160140	broad.mit.edu	37	11	108332225	108332225	+	Missense_Mutation	SNP	T	C	C			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr11:108332225T>C	uc001pkh.3	-	1	132	c.62A>G	c.(61-63)cAg>cGg	p.Q21R	C11orf65_uc010rvx.1_Missense_Mutation_p.Q21R|C11orf65_uc009yxu.2_Non-coding_Transcript	NM_152587	NP_689800	Q8NCR3	CK065_HUMAN	Homo sapiens chromosome 11 open reading frame 65 (C11orf65), mRNA.	21										endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		TTTCCAGGCCTGCTGAATGAC	0.299													0	1	0	0	0	79	3
LRPAP1	4043	broad.mit.edu	37	4	3534117	3534117	+	Missense_Mutation	SNP	G	A	A			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr4:3534117G>A	uc003ghh.4	-	0	108	c.23C>T	c.(22-24)tCg>tTg	p.S8L		NM_002337	NP_002328	P30533	AMRP_HUMAN	Homo sapiens low density lipoprotein receptor-related protein associated protein 1 (LRPAP1), mRNA.	8					negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		GCGCAGAAACGACCTGACCCT	0.711													0	1	0	0	0	4	3
PGBD2	267002	broad.mit.edu	37	1	249211398	249211398	+	Silent	SNP	C	A	A			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr1:249211398C>A	uc001ifh.3	+	2	762	c.615C>A	c.(613-615)ccC>ccA	p.P205P	PGBD2_uc001ifg.3_Intron|PGBD2_uc009xhd.3_Silent_p.P202P|PGBD2_uc021pmh.1_5'Flank	NM_170725	NP_001017434	Q6P3X8	PGBD2_HUMAN	Homo sapiens piggyBac transposable element derived 2 (PGBD2), transcript variant 1, mRNA.	205								p.P205P(1)		NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AAACCTCTCCCGATTCACATC	0.398													1.73E-01	1	1.51E-01	0	1	203	4
NAP1L4	4676	broad.mit.edu	37	11	2981037	2981037	+	Missense_Mutation	SNP	A	G	G			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr11:2981037A>G	uc010qxm.2	-	9	993	c.709T>C	c.(709-711)Ttt>Ctt	p.F237L	NAP1L4_uc001lxc.3_Missense_Mutation_p.F237L|NAP1L4_uc010qxn.2_Missense_Mutation_p.F237L	NM_005969	NP_005960	Q99733	NP1L4_HUMAN	Homo sapiens nucleosome assembly protein 1-like 4 (NAP1L4), mRNA.	237					nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding			endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		TCAAAGGAAAAGGGATCAGCC	0.373													0	1	0	0	0	69	3
RGMB	285704	broad.mit.edu	37	5	98115491	98115491	+	Missense_Mutation	SNP	T	A	A			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr5:98115491T>A	uc003knc.3	+	3	869	c.467T>A	c.(466-468)cTc>cAc	p.L156H	RGMB_uc003knb.2_Missense_Mutation_p.L156H	NM_001012761	NP_001012779	Q6NW40	RGMB_HUMAN	Homo sapiens RGM domain family, member B (RGMB), mRNA.	115					BMP signaling pathway|axon guidance|cell adhesion|positive regulation of transcription, DNA-dependent	ER-Golgi intermediate compartment|anchored to plasma membrane|membrane raft	identical protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		ATCAGTGACCTCATGAGCCAG	0.557													0	1	0	0	0	65	3
OR1K1	392392	broad.mit.edu	37	9	125563190	125563190	+	Silent	SNP	C	A	A			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr9:125563190C>A	uc011lze.2	+	0	789	c.789C>A	c.(787-789)gcC>gcA	p.A263A		NM_080859	NP_543135	Q8NGR3	OR1K1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily K, member 1 (OR1K1), mRNA.	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						ACTTCCAGGCCACATCCCGAC	0.612													1	1	1	0	1	146	4
OR6S1	341799	broad.mit.edu	37	14	21109731	21109731	+	Missense_Mutation	SNP	A	T	T			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr14:21109731A>T	uc001vxv.1	-	0	120	c.120T>A	c.(118-120)aaT>aaA	p.N40K		NM_001001968	NP_001001968	Q8NH40	OR6S1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily S, member 1 (OR6S1), mRNA.	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		TGCCTGTCAGATTCAGGAGAT	0.473													0	1	0	0	0	119	19
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	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	0.368	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				0	1	0	0	0	59	23
SHC1	6464	broad.mit.edu	37	1	154940985	154940985	+	Missense_Mutation	SNP	C	T	T			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr1:154940985C>T	uc001ffv.3	-	3	957	c.736G>A	c.(736-738)Gca>Aca	p.A246T	SHC1_uc001ffw.3_Missense_Mutation_p.A246T|SHC1_uc001ffx.3_Missense_Mutation_p.A136T|SHC1_uc001ffy.3_Missense_Mutation_p.A136T|SHC1_uc001ffz.1_Missense_Mutation_p.A17T	NM_183001	NP_001189788	P29353	SHC1_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 1 (SHC1), transcript variant 1, mRNA.	246	PID.				Ras protein signal transduction|activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|regulation of epidermal growth factor receptor activity|regulation of growth	Shc-EGFR complex|cytosol|mitochondrial matrix	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TTGCAGTCTGCGGCCATGAGG	0.552													0	1	0	0	0	469	5
SRSF2	6427	broad.mit.edu	37	17	74732250	74732250	+	Missense_Mutation	SNP	G	C	C			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr17:74732250G>C	uc002jsy.4	-	1	910	c.659C>G	c.(658-660)tCc>tGc	p.S220C	SRSF2_uc010wtg.2_Missense_Mutation_p.S208C|SRSF2_uc002jsv.3_Missense_Mutation_p.S220C|SRSF2_uc002jsw.2_Non-coding_Transcript|MFSD11_uc002jsz.1_5'Flank|MFSD11_uc002jta.2_5'Flank|MFSD11_uc002jtd.4_5'Flank|MFSD11_uc002jtb.3_5'Flank|MFSD11_uc002jtc.3_5'Flank|MFSD11_uc002jte.3_5'Flank|MFSD11_uc010dhb.3_5'Flank|MFSD11_uc010dha.3_5'Flank	NM_001195427	NP_001182356	Q01130	SRSF2_HUMAN	Homo sapiens serine/arginine-rich splicing factor 2 (SRSF2), transcript variant 2, mRNA.	220	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	RNA binding|nucleotide binding|protein binding|transcription corepressor activity			haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						TTCTTAAGAGGACACCGCTCC	0.483			Mis		"""MDS, CLL"""								0	1	0	0	0	146	3
C7orf42	55069	broad.mit.edu	37	7	66410130	66410130	+	Silent	SNP	G	T	T			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr7:66410130G>T	uc003tvk.3	+	2	591	c.327G>T	c.(325-327)ccG>ccT	p.P109P	C7orf42_uc010lah.3_Non-coding_Transcript	NM_017994	NP_060464	Q9NWD8	CG042_HUMAN	Homo sapiens chromosome 7 open reading frame 42 (C7orf42), mRNA.	109						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	17						ACTCGGGCCCGGTGAATATCT	0.582													1	1	1	0	1	88	3
SAMSN1	64092	broad.mit.edu	37	21	15893509	15893509	+	Missense_Mutation	SNP	G	A	A			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr21:15893509G>A	uc002yju.1	-	1	173	c.91C>T	c.(91-93)Cgg>Tgg	p.R31W	SAMSN1_uc010gky.1_Intron|SAMSN1_uc002yjv.1_Missense_Mutation_p.R99W	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN	Homo sapiens SAM domain, SH3 domain and nuclear localization signals 1 (SAMSN1), transcript variant 1, mRNA.	31					negative regulation of B cell activation|negative regulation of adaptive immune response|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding	p.R31Q(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		GAATTATTCCGAAAACGATCG	0.299													0	1	0	0	0	29	5
PLA2R1	22925	broad.mit.edu	37	2	160869870	160869870	+	Missense_Mutation	SNP	C	A	A			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr2:160869870C>A	uc002ube.2	-	9	1780	c.1568G>T	c.(1567-1569)gGt>gTt	p.G523V	PLA2R1_uc010zcp.2_Missense_Mutation_p.G523V|PLA2R1_uc002ubf.3_Missense_Mutation_p.G523V	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	523	C-type lectin 3.			RHG -> ETC (in Ref. 1; AAA70110/ AAC50163).	endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						ACAGAATCCACCATGTCTCTC	0.378													1.84E-06	1	1.36E-06	0	1	43	16
ANXA3	306	broad.mit.edu	37	4	79525503	79525503	+	Silent	SNP	C	A	A			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr4:79525503C>A	uc003hld.3	+	11	1172	c.862C>A	c.(862-864)Cga>Aga	p.R288R		NM_005139	NP_005130	P12429	ANXA3_HUMAN	Homo sapiens annexin A3 (ANXA3), mRNA.	288					defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TTTGGACATTCGAACAGAGTT	0.368													1	1	1	0	1	94	3
CSRNP2	81566	broad.mit.edu	37	12	51467752	51467752	+	Missense_Mutation	SNP	C	G	G			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr12:51467752C>G	uc021qxx.1	-	2	777	c.265G>C	c.(265-267)Ggt>Cgt	p.G89R	CSRNP2_uc001rxu.2_Missense_Mutation_p.G89R	NM_030809	NP_110436	Q9H175	CSRN2_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 2 (CSRNP2), transcript variant 1, mRNA.	89					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						GAGCTACCACCCTGGCTGGGC	0.552													0	1	0	0	0	118	9
