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
PPP1R15A	23645	broad.mit.edu	37	19	49377662	49377662	+	Missense_Mutation	SNP	A	G	G	rs142855954		TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr19:49377662A>G	uc002pky.4	+	1	1441	c.1172A>G	c.(1171-1173)tAt>tGt	p.Y391C		NM_014330	NP_055145	O75807	PR15A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 15A (PPP1R15A), mRNA.	391	4 X 34 AA approximate repeats.|Glu-rich.|Interaction with SMAD7.				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		TCCTGGGTCTATCAGCCAGGA	0.527													0	9.10E-03	0	0	0	159	4
ERF	2077	broad.mit.edu	37	19	42754077	42754077	+	Missense_Mutation	SNP	C	T	T			TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr19:42754077C>T	uc002ote.4	-	2	433	c.275G>A	c.(274-276)cGc>cAc	p.R92H	ERF_uc002otd.4_5'UTR	NM_006494	NP_006485	P50548	ERF_HUMAN	Homo sapiens Ets2 repressor factor (ERF), mRNA.	92					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GTGCAGAATGCGCTTGTTATA	0.478													0	1.48E-02	0	0	0	162	4
DTNBP1	84062	broad.mit.edu	37	6	15615571	15615571	+	Missense_Mutation	SNP	A	G	G	rs149346386		TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr6:15615571A>G	uc003nbm.3	-	5	604	c.415T>C	c.(415-417)Tgt>Cgt	p.C139R	DTNBP1_uc003nbl.3_Missense_Mutation_p.C58R|DTNBP1_uc010jph.3_Missense_Mutation_p.C126R|DTNBP1_uc003nbp.3_Missense_Mutation_p.C139R	NM_032122	NP_115498	Q96EV8	DTBP1_HUMAN	Homo sapiens dystrobrevin binding protein 1 (DTNBP1), transcript variant 1, mRNA.	139					actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	BLOC-1 complex|axon part|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			CACTGCCCACATAAGTCTTCC	0.383									Hermansky-Pudlak syndrome				0	9.10E-03	0	0	0	91	4
MBTPS1	8720	broad.mit.edu	37	16	84089661	84089661	+	Missense_Mutation	SNP	G	T	T			TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr16:84089661G>T	uc002fhi.3	-	21	3413	c.2911C>A	c.(2911-2913)Caa>Aaa	p.Q971K	MBTPS1_uc002fhh.3_Missense_Mutation_p.Q475K	NM_003791	NP_003782	Q14703	MBTP1_HUMAN	Homo sapiens membrane-bound transcription factor peptidase, site 1 (MBTPS1), mRNA.	971					cholesterol metabolic process|proteolysis	Golgi membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	serine-type endopeptidase activity	p.Q971H(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GGCCTCACTTGAGGGCGATTC	0.493													1.05E-15	9.99E-02	8.25E-16	0	1	67	25
KIAA0754	643314	broad.mit.edu	37	1	39877399	39877399	+	Missense_Mutation	SNP	A	T	T			TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr1:39877399A>T	uc009vvt.1	+	0	2224	c.1462A>T	c.(1462-1464)Aat>Tat	p.N488Y	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc021olw.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	Homo sapiens KIAA0754 (KIAA0754), mRNA.	352										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGAGCTACAGAATCAAATCTC	0.423													0	6.24E-02	0	0	0	69	23
TRRAP	8295	broad.mit.edu	37	7	98501102	98501102	+	Missense_Mutation	SNP	T	C	C			TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr7:98501102T>C	uc003upp.3	+	11	1207	c.998T>C	c.(997-999)aTt>aCt	p.I333T	TRRAP_uc011kis.2_Missense_Mutation_p.I333T|TRRAP_uc003upr.3_Missense_Mutation_p.I25T	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	333					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GAGCTTCTGATTGCTGCCAAA	0.488													0	9.10E-03	0	0	0	111	3
NLRP4	147945	broad.mit.edu	37	19	56369469	56369469	+	Missense_Mutation	SNP	A	G	G			TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr19:56369469A>G	uc002qmd.4	+	2	1132	c.710A>G	c.(709-711)cAg>cGg	p.Q237R	NLRP4_uc002qmf.3_Missense_Mutation_p.Q162R|NLRP4_uc010etf.3_Missense_Mutation_p.Q68R	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	237	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GAAGAGCTGCAGGGCGGCTTG	0.542													0	9.10E-03	0	0	0	101	4
OR5M3	219482	broad.mit.edu	37	11	56237294	56237294	+	Missense_Mutation	SNP	C	T	T	rs144814707		TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr11:56237294C>T	uc010rjk.2	-	0	721	c.680G>A	c.(679-681)cGc>cAc	p.R227H	OR8U8_uc001nit.2_Intron	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 3 (OR5M3), mRNA.	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					TTCTGCTGAGCGCATTCGCAG	0.418													0	6.92E-02	0	0	0	13	11
SEMA7A	8482	broad.mit.edu	37	15	74710610	74710610	+	Splice_Site	SNP	C	A	A			TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr15:74710610C>A	uc002axv.3	-	3	412	c.372_splice	c.e3+1	p.R124_splice	SEMA7A_uc010ulk.2_Splice_Site|SEMA7A_uc010ull.2_Intron	NM_003612	NP_001139502	O75326	SEM7A_HUMAN	Homo sapiens semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group) (SEMA7A), transcript variant 1, mRNA.	124	Sema.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of axon extension|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						CCCACTCACCCGCTTATCCAG	0.582													5.37E-03	4.67E-03	4.67E-03	0	1	46	3
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	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	2.03E-02	0	0	0	14	13
RAPGEF1	2889	broad.mit.edu	37	9	134455701	134455701	+	Missense_Mutation	SNP	T	C	C			TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr9:134455701T>C	uc022bos.1	-	22	3245	c.3086A>G	c.(3085-3087)aAg>aGg	p.K1029R	RAPGEF1_uc022bot.1_Missense_Mutation_p.K1011R	NM_198679	NP_941372	Q13905	RPGF1_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 1 (RAPGEF1), transcript variant 2, mRNA.	1011	Ras-GEF.				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		CTGCCACCGCTTGGAGAAGTT	0.637													0	3.81E-02	0	0	0	25	7
ANKRD27	84079	broad.mit.edu	37	19	33137489	33137489	+	Silent	SNP	T	C	C			TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr19:33137489T>C	uc002ntn.1	-	3	402	c.246A>G	c.(244-246)ttA>ttG	p.L82L	ANKRD27_uc002nto.1_Silent_p.L82L	NM_032139	NP_115515	Q96NW4	ANR27_HUMAN	Homo sapiens ankyrin repeat domain 27 (VPS9 domain) (ANKRD27), mRNA.	82					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					AACCAGCTCCTAATTTAATCC	0.473													0	4.67E-03	0	0	0	53	3
DRP2	1821	broad.mit.edu	37	X	100486665	100486665	+	Missense_Mutation	SNP	C	A	A			TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chrX:100486665C>A	uc004egz.2	+	2	398	c.29C>A	c.(28-30)cCt>cAt	p.P10H	DRP2_uc011mrh.1_Intron	NM_001939	NP_001164655	Q13474	DRP2_HUMAN	Homo sapiens dystrophin related protein 2 (DRP2), transcript variant 1, mRNA.	10					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						CAGGGATGCCCTTACACCCTC	0.537													9.96E-03	9.10E-03	9.10E-03	0	1	181	4
MUC21	394263	broad.mit.edu	37	6	30954379	30954379	+	Missense_Mutation	SNP	A	T	T			TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr6:30954379A>T	uc003nsh.2	+	1	678	c.427A>T	c.(427-429)Acc>Tcc	p.T143S	MUC21_uc003nsi.1_Non-coding_Transcript|MUC21_uc021yuf.1_Missense_Mutation_p.T127S	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN	Homo sapiens mucin 21, cell surface associated (MUC21), mRNA.	143	28 X 15 AA approximate tandem repeats.|Ser-rich.			T -> L (in Ref. 3; AAQ88781 and 4; CAQ08321).		integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CTCCAGCACAACCTCCAGTGG	0.617													0	8.09E-02	0	0	0	251	11
RYR1	6261	broad.mit.edu	37	19	38934209	38934209	+	Silent	SNP	C	T	T	rs139629035	byFrequency	TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr19:38934209C>T	uc002oit.3	+	3	412	c.282C>T	c.(280-282)ggC>ggT	p.G94G	RYR1_uc002oiu.3_Silent_p.G94G	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	94					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CATCCCAGGGCGGGGGACACA	0.632													0	2.42E-02	0	0	0	27	16
