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_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
VPS13D	55187	broad.mit.edu	37	1	12461735	12461735	+	Silent	SNP	T	C	C			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr1:12461735T>C	uc001atv.2	+	62	12000	c.11859T>C	c.(11857-11859)TTT>TTC	p.F3953F	VPS13D_uc001atw.2_Silent_p.F3928F|VPS13D_uc001atx.2_Silent_p.F3140F|VPS13D_uc009vnl.2_RNA	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	3952					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TAAGTTTCTTTGGCTACGATC	0.373000													38	54					0	0	0.139131	0	0
SF3A3	10946	broad.mit.edu	37	1	38435137	38435137	+	Splice_Site	SNP	C	A	A			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr1:38435137C>A	uc001cci.2	-	14	1295	c.1171_splice	c.e14-1	p.P391_splice	SF3A3_uc010oik.1_Splice_Site_p.P338_splice	NM_006802	NP_006793	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3						nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding				0	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGGGAATAGGCTAAAAAAGAA	0.418000													15	34					3.27435e-08	3.33732e-08	0.119110	1	0
COL9A2	1298	broad.mit.edu	37	1	40782860	40782860	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr1:40782860C>T	uc001cfh.1	-	1	80	c.10G>A	c.(10-12)GCT>ACT	p.A4T	COL9A2_uc001cfi.1_Intron	NM_001852	NP_001843	Q14055	CO9A2_HUMAN	alpha 2 type IX collagen precursor	4					axon guidance|skeletal system development	collagen type IX				ovary(2)	2	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			GAGGCCGTAGCGGCGGCCATG	0.701000													9	4					0	0	0.093190	0	0
CDH23	64072	broad.mit.edu	37	10	73548698	73548698	+	Missense_Mutation	SNP	A	G	G			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr10:73548698A>G	uc001jrx.3	+	43	6199	c.5822A>G	c.(5821-5823)GAT>GGT	p.D1941G		NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	1941	Cadherin 18.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						CCCTTGCAGGATTATGACTTG	0.547000													14	25					0	0	0.146539	0	0
KRTAP5-3	387266	broad.mit.edu	37	11	1629152	1629152	+	Missense_Mutation	SNP	C	G	G			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr11:1629152C>G	uc001ltw.1	-	1	542	c.464G>C	c.(463-465)TGC>TCC	p.C155S		NM_001012708	NP_001012726	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	155	11 X 4 AA repeats of C-C-X-P.					keratin filament				ovary(2)	2		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		GGACTGGGAGCAGCTGGGCTT	0.388000													6	224					0	0	0.021553	0	0
APLNR	187	broad.mit.edu	37	11	57003348	57003348	+	Silent	SNP	A	G	G			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr11:57003348A>G	uc001njo.2	-	1	1580	c.1131T>C	c.(1129-1131)CTT>CTC	p.L377L	APLNR_uc001njn.3_RNA	NM_005161	NP_005152	P35414	APJ_HUMAN	apelin receptor	377	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity			lung(5)|ovary(1)	6						AGTCAACCACAAGGGTCTCCT	0.612000													22	34					0	0	0.091800	0	0
NADSYN1	55191	broad.mit.edu	37	11	71166162	71166162	+	Missense_Mutation	SNP	A	G	G			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr11:71166162A>G	uc001oqn.2	+	2	218	c.92A>G	c.(91-93)GAA>GGA	p.E31G	NADSYN1_uc001oqm.2_RNA|NADSYN1_uc001oqo.2_5'UTR	NM_018161	NP_060631	Q6IA69	NADE_HUMAN	NAD synthetase 1	31	CN hydrolase.				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			ovary(2)	2					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	ACAGGTATTGAAATTGCCAAA	0.438000													18	40					0	0	0.055883	0	0
KRT81	3887	broad.mit.edu	37	12	52680930	52680930	+	Silent	SNP	G	A	A			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr12:52680930G>A	uc001sab.2	-	7	1253	c.1203C>T	c.(1201-1203)ATC>ATT	p.I401I	KRT86_uc010snq.1_Intron|KRT86_uc009zmg.2_Intron|KRT81_uc001sac.2_Silent_p.I20I	NM_002281	NP_002272	Q14533	KRT81_HUMAN	keratin, hair, basic, 1	401	Rod.|Coil 2.					keratin filament	protein binding|structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGGCGATCTCGATGTCCAGGC	0.647000													5	106					0	0	0.014758	0	0
LOC374491	374491	broad.mit.edu	37	13	25168432	25168432	+	RNA	SNP	T	C	C	rs149337771	by1000genomes	TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr13:25168432T>C	uc001upm.2	+	10		c.1104T>C			LOC374491_uc001upn.2_RNA|LOC374491_uc001upo.2_RNA					Homo sapiens mRNA; cDNA DKFZp434J0717 (from clone DKFZp434J0717).												0						TTGAAACAGCTGGTGTATTAA	0.373000													4	37					0	0	0.014758	0	0
RYR3	6263	broad.mit.edu	37	15	33893721	33893721	+	Silent	SNP	C	G	G			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr15:33893721C>G	uc001zhi.2	+	17	1960	c.1890C>G	c.(1888-1890)CTC>CTG	p.L630L	RYR3_uc010bar.2_Silent_p.L630L	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	630	Cytoplasmic (By similarity).|B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAAACCTACTCCTGCAGACAC	0.512000													23	24					0	0	0.083992	0	0
KIAA0556	23247	broad.mit.edu	37	16	27786309	27786309	+	Silent	SNP	G	A	A			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr16:27786309G>A	uc002dow.2	+	24	4377	c.4353G>A	c.(4351-4353)GTG>GTA	p.V1451V		NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247	1451										ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						TGGAGGGTGTGGGCGGGGACG	0.627000													14	75					0	0	0.132662	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2909299	2909299	+	Silent	SNP	C	T	T			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr17:2909299C>T	uc010ckd.2	+	16	1413	c.1323C>T	c.(1321-1323)AAC>AAT	p.N441N	RAP1GAP2_uc010cke.2_Silent_p.N426N	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2 isoform 1	441	Rap-GAP.				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			ovary(1)	1						ATGCCGAGAACGCCTGCTGCA	0.572000													5	148					0	0	0.029380	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	A	A	rs121913343		TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr17:7577121G>A	uc002gim.2	-	8	1011	c.817C>T	c.(817-819)CGT>TGT	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	273	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(467)|p.R273C(396)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542000	R273C(SH10TC_STOMACH)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(RH30_SOFT_TISSUE)|R273C(PANC0213_PANCREAS)|R273C(SJRH30_SOFT_TISSUE)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(TT2609C02_THYROID)|R273C(MFE319_ENDOMETRIUM)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(NCIH1048_LUNG)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			11	13					0	0	0.080935	0	0
TP53	7157	broad.mit.edu	37	17	7578457	7578457	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr17:7578457C>T	uc002gim.2	-	5	667	c.473G>A	c.(472-474)CGC>CAC	p.R158H	TP53_uc002gig.1_Missense_Mutation_p.R158H|TP53_uc002gih.2_Missense_Mutation_p.R158H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R26H|TP53_uc010cng.1_Missense_Mutation_p.R26H|TP53_uc002gii.1_Missense_Mutation_p.R26H|TP53_uc010cnh.1_Missense_Mutation_p.R158H|TP53_uc010cni.1_Missense_Mutation_p.R158H|TP53_uc002gij.2_Missense_Mutation_p.R158H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R65H|TP53_uc002gio.2_Missense_Mutation_p.R26H|TP53_uc010vug.1_Missense_Mutation_p.R119H	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	158	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R158H(58)|p.R158L(55)|p.R158C(17)|p.R158G(10)|p.R158P(9)|p.0?(7)|p.R158R(6)|p.R158fs*12(5)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R158fs*11(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.R65L(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.R26L(1)|p.V157fs*21(1)|p.R158fs*8(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCCATGGCGCGGACGCGGGT	0.627000		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			49	65					0	0	0.139131	0	0
DNAH9	1770	broad.mit.edu	37	17	11795176	11795176	+	Missense_Mutation	SNP	A	G	G			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr17:11795176A>G	uc002gne.2	+	58	11263	c.11195A>G	c.(11194-11196)GAC>GGC	p.D3732G	DNAH9_uc010coo.2_Missense_Mutation_p.D3026G|DNAH9_uc002gnf.2_Missense_Mutation_p.D44G|DNAH9_uc010vvh.1_Missense_Mutation_p.D85G	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	3732					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AACCTAATAGACAGCATAACC	0.542000													6	170					0	0	0.029380	0	0
KRTAP4-4	84616	broad.mit.edu	37	17	39316759	39316759	+	Missense_Mutation	SNP	T	C	C			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr17:39316759T>C	uc002hwc.2	-	1	225	c.185A>G	c.(184-186)CAC>CGC	p.H62R		NM_032524	NP_115913	Q9BYR3	KRA44_HUMAN	keratin associated protein 4.4	62	9.|26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].		Missing (in allele KAP4.13).|Missing (in allele KAP4.4-v1).			keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GCAGCTGGGGTGGCAGCAGGT	0.662000													4	111					0	0	0.009096	0	0
ASPSCR1	79058	broad.mit.edu	37	17	79943447	79943447	+	Missense_Mutation	SNP	C	G	G			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr17:79943447C>G	uc002kcx.2	+	4	435	c.338C>G	c.(337-339)ACC>AGC	p.T113S	ASPSCR1_uc002kcw.1_Missense_Mutation_p.T113S|ASPSCR1_uc002kcy.2_Missense_Mutation_p.T113S|ASPSCR1_uc002kcz.2_Missense_Mutation_p.T113S|ASPSCR1_uc002kda.2_Missense_Mutation_p.T36S|ASPSCR1_uc002kdb.1_Missense_Mutation_p.T36S	NM_024083	NP_076988	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region,	113							protein binding		ASPSCR1/TFE3(161)	soft_tissue(118)|kidney(43)|breast(1)	162	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			TCAGGCCAGACCCTCTGGGAG	0.542000			T	TFE3	alveolar soft part sarcoma								4	80					0	0	0.009096	0	0
HMHA1	23526	broad.mit.edu	37	19	1085938	1085938	+	Missense_Mutation	SNP	C	T	T	rs146748497		TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr19:1085938C>T	uc002lqz.1	+	23	3575	c.3344C>T	c.(3343-3345)CCC>CTC	p.P1115L	HMHA1_uc010xgd.1_Missense_Mutation_p.P1131L|HMHA1_uc010xge.1_Missense_Mutation_p.P983L|HMHA1_uc002lra.1_Missense_Mutation_p.P955L|HMHA1_uc002lrb.1_Missense_Mutation_p.P998L|HMHA1_uc002lrc.1_Missense_Mutation_p.P750L|HMHA1_uc002lrd.1_Missense_Mutation_p.P191L|HMHA1_uc010dsd.1_Missense_Mutation_p.P221L	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	minor histocompatibility antigen HA-1	1115					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			lung(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACTGCCCCCCATGAGGCTC	0.682000													10	191					0	0	0.093190	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50464040	50464040	+	Missense_Mutation	SNP	G	A	A	rs148651187	by1000genomes	TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr19:50464040G>A	uc010ybh.1	-	2	320	c.229C>T	c.(229-231)CGG>TGG	p.R77W	SIGLEC11_uc010ybi.1_Missense_Mutation_p.R77W	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11 isoform 1	77	Ig-like V-type.|Extracellular (Potential).				cell adhesion	integral to membrane	sugar binding			ovary(3)|central_nervous_system(2)|pancreas(1)	6		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		GGGCTGGTCCGTCCTTTGAAC	0.607000													3	30					0	0	0.115264	0	0
LILRA4	23547	broad.mit.edu	37	19	54850418	54850418	+	Translation_Start_Site	SNP	G	A	A	rs35407007	by1000genomes	TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr19:54850418G>A	uc002qfj.2	-	1	4	c.-53C>T	c.(-55--51)TACGG>TATGG		LILRA4_uc002qfi.2_5'Flank	NM_012276	NP_036408	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor subfamily							integral to membrane	receptor activity			upper_aerodigestive_tract(1)|central_nervous_system(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CACGGTGCCCGTAGACACAGA	0.597000													3	25					0	0	0.115264	0	0
PCYOX1	51449	broad.mit.edu	37	2	70504434	70504434	+	Silent	SNP	C	T	T			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr2:70504434C>T	uc002sgn.3	+	6	1494	c.1428C>T	c.(1426-1428)AAC>AAT	p.N476N	PCYOX1_uc010fdo.2_Silent_p.N399N|PCYOX1_uc010yqu.1_Silent_p.N458N	NM_016297	NP_057381	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1 precursor	476					prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity			central_nervous_system(1)	1						CAGCCCACAACGCTGCACTCC	0.468000													15	256					0	0	0.033300	0	0
SLC9A2	6549	broad.mit.edu	37	2	103324661	103324661	+	Missense_Mutation	SNP	C	G	G			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr2:103324661C>G	uc002tca.2	+	12	2294	c.2152C>G	c.(2152-2154)CAG>GAG	p.Q718E		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	solute carrier family 9 (sodium/hydrogen	718	Cytoplasmic (Potential).					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			central_nervous_system(3)|skin(3)|breast(2)	8						CTTGCCAGAACAGTTCTCCAA	0.537000													26	126					0	0	0.144211	0	0
TFCP2L1	29842	broad.mit.edu	37	2	121997207	121997207	+	Missense_Mutation	SNP	C	T	T	rs141932688	byFrequency	TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr2:121997207C>T	uc002tmx.2	-	8	880	c.787G>A	c.(787-789)GTG>ATG	p.V263M	TFCP2L1_uc010flr.2_Missense_Mutation_p.V263M	NM_014553	NP_055368	Q9NZI6	TF2L1_HUMAN	LBP-9	263					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			pancreas(2)|ovary(1)	3	Renal(3;0.01)					TGGTAGGCCACGTCGGGCCAT	0.632000													4	76					0	0	0.014758	0	0
TTN	7273	broad.mit.edu	37	2	179655479	179655479	+	Missense_Mutation	SNP	C	G	G			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr2:179655479C>G	uc010zfg.1	-	11	1980	c.1756G>C	c.(1756-1758)GAA>CAA	p.E586Q	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002unb.2_Missense_Mutation_p.E586Q|TTN_uc010frg.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	586							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGGTAGTTTCTTCTTGAGCT	0.423000													6	149					0	0	0.038147	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr2:209113112C>T	uc002vcs.2	-	4	641	c.395G>A	c.(394-396)CGT>CAT	p.R132H	IDH1_uc002vct.2_Missense_Mutation_p.R132H|IDH1_uc002vcu.2_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132		Substrate.	R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1)		central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma 								35	66					0	0	0.139131	0	0
KRTAP10-12	386685	broad.mit.edu	37	21	46117134	46117134	+	Silent	SNP	C	T	T			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr21:46117134C>T	uc002zfw.1	+	1	48	c.18C>T	c.(16-18)AGC>AGT	p.S6S	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198699	NP_941972	P60413	KR10C_HUMAN	keratin associated protein 10-12	6						keratin filament					0						TCTGCTCCAGCGACCTGAGCT	0.512000													27	166					0	0	0.059317	0	0
Unknown	0	broad.mit.edu	37	22	18844763	18844763	+	RNA	SNP	T	C	C			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr22:18844763T>C	uc002zoe.2	+	4		c.2017T>C			uc002zof.2_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		TCACAGCCTCTGAGGGCAGCA	0.562000													5	8					0	0	0.014758	0	0
GRM7	2917	broad.mit.edu	37	3	7620372	7620372	+	Silent	SNP	T	C	C			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr3:7620372T>C	uc003bqm.2	+	8	2053	c.1779T>C	c.(1777-1779)ATT>ATC	p.I593I	GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Silent_p.I593I|GRM7_uc003bql.2_Silent_p.I593I|GRM7_uc003bqn.1_Silent_p.I176I|GRM7_uc010hch.1_Silent_p.I104I	NM_000844	NP_000835	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform a	593	Helical; Name=1; (Potential).				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			ovary(4)|lung(3)	7					L-Glutamic Acid(DB00142)	GGGCTGTGATTCCTGTCTTCC	0.552000													10	117					0	0	0.058154	0	0
UBXN7	26043	broad.mit.edu	37	3	196096372	196096372	+	Missense_Mutation	SNP	T	A	A			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr3:196096372T>A	uc003fwm.3	-	7	701	c.626A>T	c.(625-627)GAC>GTC	p.D209V	UBXN7_uc003fwn.3_Missense_Mutation_p.D61V|UBXN7_uc010iae.2_Missense_Mutation_p.D47V	NM_015562	NP_056377	O94888	UBXN7_HUMAN	UBX domain containing 7	209							protein binding			ovary(2)|pancreas(1)	3						TTCCTCACTGTCATGATAAAC	0.363000													14	48					0	0	0.132662	0	0
FABP2	2169	broad.mit.edu	37	4	120243252	120243252	+	Silent	SNP	C	T	T			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr4:120243252C>T	uc003icw.2	-	1	65	c.6G>A	c.(4-6)GCG>GCA	p.A2A		NM_000134	NP_000125	P12104	FABPI_HUMAN	intestinal fatty acid binding protein 2	2							fatty acid binding			ovary(1)	1						TGCTGTCAAACGCCATGATTT	0.398000													7	253					0	0	0.047766	0	0
ODZ3	55714	broad.mit.edu	37	4	183609326	183609326	+	Silent	SNP	T	C	C			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr4:183609326T>C	uc003ivd.1	+	11	2080	c.2043T>C	c.(2041-2043)TGT>TGC	p.C681C	ODZ3_uc003ive.1_Silent_p.C87C	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	681	Extracellular (Potential).|EGF-like 6.				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		TAGAAATATGTTCTGTGGACT	0.527000													58	92					0	0	0.139131	0	0
PIK3R1	5295	broad.mit.edu	37	5	67569270	67569270	+	Silent	SNP	G	A	A			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr5:67569270G>A	uc003jva.2	+	3	947	c.387G>A	c.(385-387)CCG>CCA	p.P129P	PIK3R1_uc003jvb.2_Silent_p.P129P	NM_181523	NP_852664	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1	129	Rho-GAP.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.?(2)		endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	ACATTGCCCCGCCTCTTCTTA	0.443000			Mis|F|O		gliobastoma|ovarian|colorectal					TCGA GBM(4;<1E-08)			24	223					0	0	0.050027	0	0
PIK3R1	5295	broad.mit.edu	37	5	67591086	67591086	+	Missense_Mutation	SNP	A	G	G			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr5:67591086A>G	uc003jva.2	+	13	2239	c.1679A>G	c.(1678-1680)GAC>GGC	p.D560G	PIK3R1_uc003jvb.2_Missense_Mutation_p.D560G|PIK3R1_uc003jvc.2_Missense_Mutation_p.D260G|PIK3R1_uc003jvd.2_Missense_Mutation_p.D290G|PIK3R1_uc003jve.2_Missense_Mutation_p.D239G|PIK3R1_uc011crb.1_Missense_Mutation_p.D230G	NM_181523	NP_852664	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1	560					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.D560_S565del(1)|p.R557_K561>Q(1)|p.D560Y(1)|p.?(1)		endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CGAGAAATTGACAAACGTATG	0.358000			Mis|F|O		gliobastoma|ovarian|colorectal					TCGA GBM(4;<1E-08)			24	89					0	0	0.091800	0	0
CRHBP	1393	broad.mit.edu	37	5	76264637	76264637	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr5:76264637G>A	uc003ker.2	+	7	1176	c.896G>A	c.(895-897)CGT>CAT	p.R299H		NM_001882	NP_001873	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	299					female pregnancy|learning or memory|signal transduction	soluble fraction					0		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		TTTGAGTATCGTCAGCTGGAG	0.458000													18	58					0	0	0.069288	0	0
DEFB113	245927	broad.mit.edu	37	6	49936551	49936551	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr6:49936551C>T	uc011dwq.1	-	2	88	c.88G>A	c.(88-90)GAG>AAG	p.E30K		NM_001037729	NP_001032818	Q30KQ7	DB113_HUMAN	beta-defensin 113 precursor	30					defense response to bacterium	extracellular region					0	Lung NSC(77;0.042)					CTTTTTCTCTCTGCAACTTCT	0.383000													3	26					0	0	0.014758	0	0
DEFB112	245915	broad.mit.edu	37	6	50011409	50011409	+	Missense_Mutation	SNP	T	C	C			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr6:50011409T>C	uc011dws.1	-	2	221	c.221A>G	c.(220-222)TAC>TGC	p.Y74C		NM_001037498	NP_001032587	Q30KQ8	DB112_HUMAN	beta-defensin 112 precursor	74					defense response to bacterium	extracellular region				central_nervous_system(1)	1	Lung NSC(77;0.042)					TCTTGCACAGTATGAAATCCT	0.433000													34	67					0	0	0.074837	0	0
TFAP2D	83741	broad.mit.edu	37	6	50696680	50696680	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr6:50696680G>A	uc003paf.2	+	4	1222	c.710G>A	c.(709-711)CGC>CAC	p.R237H	TFAP2D_uc011dwt.1_RNA	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 beta-like 1	237							DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|breast(1)	7	Lung NSC(77;0.0334)					GTAAAGAGGCGCCTCTCCCCA	0.473000													6	103					0	0	0.021553	0	0
DOPEY1	23033	broad.mit.edu	37	6	83855297	83855297	+	Missense_Mutation	SNP	A	G	G			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr6:83855297A>G	uc003pjs.1	+	25	5856	c.5596A>G	c.(5596-5598)ATC>GTC	p.I1866V	DOPEY1_uc011dyy.1_Missense_Mutation_p.I1857V|DOPEY1_uc010kbl.1_Missense_Mutation_p.I1857V|DOPEY1_uc003pjt.2_RNA	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	1866					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GGTTCGTTCAATCAGTGTCAT	0.348000													15	26					0	0	0.119110	0	0
RARS2	57038	broad.mit.edu	37	6	88239302	88239302	+	Missense_Mutation	SNP	A	C	C			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr6:88239302A>C	uc003pme.2	-	10	896	c.836T>G	c.(835-837)GTC>GGC	p.V279G	RARS2_uc003pmb.2_Missense_Mutation_p.V104G|RARS2_uc003pmc.2_Missense_Mutation_p.V104G|RARS2_uc003pmd.2_5'UTR|RARS2_uc003pmf.2_RNA	NM_020320	NP_064716	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	279					arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding			ovary(2)|central_nervous_system(1)	3		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		CAACTTTAAGACCTCTTGAGA	0.308000													17	48					0	0	0.091800	0	0
BACH2	60468	broad.mit.edu	37	6	90661005	90661005	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr6:90661005G>A	uc011eab.1	-	7	1629	c.820C>T	c.(820-822)CAG>TAG	p.Q274*	BACH2_uc003pnw.2_Nonsense_Mutation_p.Q274*|BACH2_uc010kch.2_Nonsense_Mutation_p.Q274*	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	274						nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|pancreas(1)|lung(1)|skin(1)	6		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CTTTTAATCTGCCCCCTGGCA	0.532000													46	58					0	0	0.139131	0	0
UST	10090	broad.mit.edu	37	6	149340328	149340328	+	Silent	SNP	A	G	G			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr6:149340328A>G	uc003qmg.2	+	6	1031	c.735A>G	c.(733-735)TTA>TTG	p.L245L		NM_005715	NP_005706	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	245	Lumenal (Potential).				protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity			ovary(2)	2		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		ACCCCAGGTTATTTTACATCA	0.463000													5	173					0	0	0.021553	0	0
RAMP3	10268	broad.mit.edu	37	7	45222924	45222924	+	Silent	SNP	C	T	T			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr7:45222924C>T	uc003tnb.2	+	3	421	c.360C>T	c.(358-360)ATC>ATT	p.I120I	RAMP3_uc003tnc.2_Silent_p.I88I	NM_005856	NP_005847	O60896	RAMP3_HUMAN	receptor activity modifying protein 3 precursor	120	Helical; (Potential).				intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity				0					Pramlintide(DB01278)	AGGTTCTCATCCCGCTGATCG	0.632000													13	230					0	0	0.146539	0	0
SPDYE5	442590	broad.mit.edu	37	7	75130883	75130883	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr7:75130883G>A	uc011kfy.1	+	6	894	c.758G>A	c.(757-759)CGT>CAT	p.R253H		NM_001099435	NP_001092905	A6NIY4	SPDE5_HUMAN	speedy homolog E5	253	Arg-rich.										0						CAGTTAGGCCGTTCCATGAAC	0.592000													10	293					0	0	0.069234	0	0
PRKDC	5591	broad.mit.edu	37	8	48706915	48706915	+	Missense_Mutation	SNP	T	C	C			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr8:48706915T>C	uc003xqi.2	-	75	10663	c.10606A>G	c.(10606-10608)AGC>GGC	p.S3536G	PRKDC_uc003xqj.2_Missense_Mutation_p.S3536G|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	3536	FAT.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CTTTCGCTGCTTATGATGAAG	0.423000								NHEJ					9	14					0	0	0.058154	0	0
RB1CC1	9821	broad.mit.edu	37	8	53570054	53570054	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr8:53570054C>T	uc003xre.3	-	15	2893	c.2335G>A	c.(2335-2337)GAT>AAT	p.D779N	RB1CC1_uc003xrf.3_Missense_Mutation_p.D779N	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Rb1-inducible coiled coil protein 1 isoform 1	779					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	11		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				ACATTTGTATCCTGCATTCGT	0.403000													33	85					0	0	0.074837	0	0
ACOT9	23597	broad.mit.edu	37	X	23748659	23748659	+	Missense_Mutation	SNP	G	T	T			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chrX:23748659G>T	uc004dap.2	-	5	504	c.358C>A	c.(358-360)CTT>ATT	p.L120I	ACOT9_uc004dao.2_Missense_Mutation_p.L129I|ACOT9_uc004daq.2_Missense_Mutation_p.L78I|ACOT9_uc004dar.2_Missense_Mutation_p.L60I|ACOT9_uc011mjt.1_RNA|ACOT9_uc004das.2_Missense_Mutation_p.L60I|ACOT9_uc004dat.1_Missense_Mutation_p.L120I	NM_001033583	NP_001028755	Q9Y305	ACOT9_HUMAN	acyl-Coenzyme A thioesterase 2, mitochondrial	120					acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity			ovary(2)|pancreas(1)	3						AAGCTGTCAAGATCCTCAAGA	0.328000													37	12					2.43139e-17	2.52674e-17	0.139131	1	0
GPC4	2239	broad.mit.edu	37	X	132458383	132458383	+	Silent	SNP	G	A	A			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chrX:132458383G>A	uc004exc.1	-	3	713	c.501C>T	c.(499-501)CGC>CGT	p.R167R	GPC4_uc011mvg.1_Silent_p.R97R	NM_001448	NP_001439	O75487	GPC4_HUMAN	glypican 4 precursor	167					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding				0	Acute lymphoblastic leukemia(192;0.000127)					GCTCCAGGAGGCGAGCCCAGA	0.468000													21	84					0	0	0.069288	0	0
FMR1	2332	broad.mit.edu	37	X	147010283	147010283	+	Missense_Mutation	SNP	T	C	C			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chrX:147010283T>C	uc010nst.2	+	5	566	c.377T>C	c.(376-378)TTC>TCC	p.F126S	FMR1_uc011mwz.1_Missense_Mutation_p.F126S|FMR1_uc004fcj.2_Missense_Mutation_p.F126S|FMR1_uc004fck.3_Missense_Mutation_p.F126S|FMR1_uc004fcl.3_5'UTR|FMR1_uc011mxa.1_5'Flank	NM_002024	NP_002015	Q06787	FMR1_HUMAN	fragile X mental retardation 1	126				TF->AA: Alters the structural integrity of the N-terminus and leads to aggregation.	mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			ovary(2)|pancreas(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					AAAGATACTTTCCATAAGATC	0.368000									Fragile_X_syndrome				10	63					0	0	0.132662	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81072446	81072446	+	Frame_Shift_Del	DEL	C	-	-			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr10:81072446delC	uc001kaf.2	+	25	3716	c.3144delC	c.(3142-3144)GACfs	p.D1048fs	ZMIZ1_uc001kag.2_Frame_Shift_Del_p.D924fs|ZMIZ1_uc010qlq.1_Frame_Shift_Del_p.D114fs	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	retinoic acid induced 17	1048					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			ovary(2)|breast(1)|skin(1)	4	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CTTATCTGGACCCCCCCGACC	0.557													7	413	---	---	---	---					
ASXL2	55252	broad.mit.edu	37	2	26022304	26022306	+	In_Frame_Del	DEL	CTG	-	-			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr2:26022304_26022306delCTG	uc002rgs.2	-	4	572_574	c.351_353delCAG	c.(349-354)AGCAGT>AGT	p.117_118SS>S		NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	additional sex combs like 2	117_118	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCACCATCACTGCTGCTGCTGC	0.463													9	205	---	---	---	---					
L3MBTL	26013	broad.mit.edu	37	20	42143378	42143378	+	Frame_Shift_Del	DEL	C	-	-			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr20:42143378delC	uc010zwh.1	+	4	444	c.398delC	c.(397-399)GCCfs	p.A133fs	L3MBTL_uc010ggk.1_Frame_Shift_Del_p.A65fs|L3MBTL_uc002xkl.2_Frame_Shift_Del_p.A65fs|L3MBTL_uc002xkm.2_Frame_Shift_Del_p.A65fs|L3MBTL_uc010ggl.2_Frame_Shift_Del_p.A65fs	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	l(3)mbt-like isoform I	65					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GATGGCGGGGCCCCGGCGGGA	0.721													2	4	---	---	---	---					
SYS1-DBNDD2	767557	broad.mit.edu	37	20	44038638	44038640	+	In_Frame_Del	DEL	CCT	-	-			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr20:44038638_44038640delCCT	uc002xnx.2	+	6	840_842	c.344_346delCCT	c.(343-348)ACCTCC>ACC	p.S121del	DBNDD2_uc002xnz.2_In_Frame_Del_p.S121del|DBNDD2_uc002xoa.2_3'UTR|DBNDD2_uc002xob.2_In_Frame_Del_p.S121del|DBNDD2_uc002xoc.2_In_Frame_Del_p.S121del|DBNDD2_uc002xod.2_3'UTR|DBNDD2_uc002xoe.2_In_Frame_Del_p.S121del|DBNDD2_uc002xof.2_In_Frame_Del_p.S121del|DBNDD2_uc002xog.2_3'UTR	NM_001048225	NP_001041690			SCF apoptosis response protein 1 isoform a												0						ACATCTAGGAcctcctcctcctc	0.463													3	4	---	---	---	---					
MKRN1	23608	broad.mit.edu	37	7	140154921	140154922	+	Frame_Shift_Del	DEL	TC	-	-	rs1062780		TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr7:140154921_140154922delTC	uc003vvt.2	-	7	1434_1435	c.1209_1210delGA	c.(1207-1212)CAGAAAfs	p.Q403fs	MKRN1_uc003vvs.2_Frame_Shift_Del_p.Q339fs|MKRN1_uc011krd.1_Frame_Shift_Del_p.Q137fs	NM_013446	NP_038474	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1 isoform 1	403_404							ligase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)	1	Melanoma(164;0.00956)					GTTCCCACTTTCTGTCTCTGTG	0.485													80	187	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76939473	76939474	+	Frame_Shift_Del	DEL	TT	-	-			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chrX:76939473_76939474delTT	uc004ecp.3	-	9	1506_1507	c.1274_1275delAA	c.(1273-1275)AAAfs	p.K425fs	ATRX_uc004ecq.3_Frame_Shift_Del_p.K387fs|ATRX_uc004eco.3_Frame_Shift_Del_p.K210fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.K386fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.K425fs|ATRX_uc010nly.1_Frame_Shift_Del_p.K370fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	425					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	TATTTTTCTCTTTGTTTACAGC	0.361			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						79	35	---	---	---	---					
PCDH19	57526	broad.mit.edu	37	X	99663560	99663562	+	In_Frame_Del	DEL	CAG	-	-			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08									Somatic	Phase_I	Capture				Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chrX:99663560_99663562delCAG	uc010nmz.2	-	1	1710_1712	c.34_36delCTG	c.(34-36)CTGdel	p.L12del	PCDH19_uc004efw.3_In_Frame_Del_p.L12del|PCDH19_uc004efx.3_In_Frame_Del_p.L12del	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	12					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						ACAGTATGGCCAGCAGCAGCAGC	0.665													2	4	---	---	---	---					
