Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
SEC16B	89866	broad.mit.edu	37	1	177909803	177909803	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr1:177909803C>T	ENST00000308284.6	-	17	2158	c.2069G>A	c.(2068-2070)cGc>cAc	p.R690H	RP4-798P15.3_ENST00000528461.1_3'UTR|RP4-798P15.3_ENST00000354921.2_5'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	690					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GTCTCCACTGCGTCTTTCTAA	0.562000													21	22					0	0	1	0	0
IBTK	25998	broad.mit.edu	37	6	82912294	82912294	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr6:82912294A>G	ENST00000306270.7	-	18	3229	c.2680T>C	c.(2680-2682)Tct>Cct	p.S894P	IBTK_ENST00000510291.1_Missense_Mutation_p.S894P|IBTK_ENST00000503631.1_Missense_Mutation_p.S693P	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	894					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TGTAAACAAGACAGTTTCAAC	0.343000													14	111					0	0	1	0	0
GPATCH8	23131	broad.mit.edu	37	17	42483311	42483311	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr17:42483311C>G	ENST00000434000.1	-	8	649	c.367G>C	c.(367-369)Gag>Cag	p.E123Q	GPATCH8_ENST00000591680.1_Missense_Mutation_p.E201Q			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	201						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TTTCTTTGCTCTGCCAACTCA	0.368000													10	63					0	0	1	0	0
SNX18	112574	broad.mit.edu	37	5	53815358	53815358	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr5:53815358C>G	ENST00000343017.6	+	1	1770	c.1576C>G	c.(1576-1578)Cag>Gag	p.Q526E	SNX18_ENST00000326277.3_Missense_Mutation_p.Q526E|SNX18_ENST00000381410.4_Missense_Mutation_p.Q526E	NM_001145427.1	NP_001138899.1	Q96RF0	SNX18_HUMAN	sorting nexin 18	526	BAR.				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				AGCGCTGTATCAGGGGCATCT	0.557000													6	117					0	0	1	0	0
CAPN15	6650	broad.mit.edu	37	16	598068	598068	+	Silent	SNP	C	C	T			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr16:598068C>T	ENST00000219611.2	+	4	1593	c.1230C>T	c.(1228-1230)ccC>ccT	p.P410P	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1			calpain 15																		GCGTCCTGCCCGAGCGCCCGG	0.751000													8	12					0	0	1	0	0
ZMYM6	9204	broad.mit.edu	37	1	35476495	35476495	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr1:35476495C>T	ENST00000357182.4	-	9	1432	c.1205G>A	c.(1204-1206)cGt>cAt	p.R402H	ZMYM6_ENST00000373340.2_Missense_Mutation_p.R402H|ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000487874.1_Missense_Mutation_p.R402H	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	402					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				AGCAGAGCCACGGATGGAGCT	0.547000													8	68					0	0	1	0	0
NKX3-1	4824	broad.mit.edu	37	8	23539038	23539038	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr8:23539038G>A	ENST00000380871.4	-	2	438	c.401C>T	c.(400-402)aCt>aTt	p.T134I	NKX3-1_ENST00000523261.1_Missense_Mutation_p.T59I	NM_006167.3	NP_006158.2	Q99801	NKX31_HUMAN	NK3 homeobox 1	134					negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter	nucleus	estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding			large_intestine(3)|lung(4)|prostate(5)|skin(2)	14		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		GATCACCTGAGTGTGGGAGAA	0.577000													14	117					0	0	1	0	0
CROCCP2	0	broad.mit.edu	37	1	16946434	16946434	+	RNA	SNP	C	C	T	rs367060		TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr1:16946434C>T	ENST00000412962.1	-	0	1085																											CTCAGCCTTCCGCCGGGCCAG	0.672000													5	43					0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5902992	5902992	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr20:5902992G>A	ENST00000378961.4	+	4	406	c.202G>A	c.(202-204)Gtc>Atc	p.V68I		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	68						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						TAGAAAAGACGTCAAAGACAA	0.408000													4	30					0	0	1	0	0
PRDM7	11105	broad.mit.edu	37	16	90126912	90126912	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr16:90126912G>T	ENST00000449207.2	-	9	1089	c.1070C>A	c.(1069-1071)tCt>tAt	p.S357Y	PRDM7_ENST00000407825.1_Intron|PRDM7_ENST00000325921.6_Intron	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	357	SET.			S -> Y (in Ref. 2; AAF78084).		chromosome|nucleus	nucleic acid binding			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTCATCCCCAGACCAGACCAG	0.532000													5	71					0.000157383	0.000167429	1	1	0
WNT2	7472	broad.mit.edu	37	7	116937826	116937826	+	Silent	SNP	G	G	A			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr7:116937826G>A	ENST00000265441.3	-	4	992	c.693C>T	c.(691-693)ggC>ggT	p.G231G		NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	231					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		AGAGATAATCGCCCGTTTTCC	0.532000													5	100					0	0	1	0	0
AC008103.5	0	broad.mit.edu	37	22	18846098	18846098	+	RNA	SNP	G	G	A	rs9306211		TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr22:18846098G>A	ENST00000412938.1	+	0	3456																											ATGCCTCGGCGCTCGATCTCC	0.622000													5	46					0	0	1	0	0
PSG1	0	broad.mit.edu	37	19	43382350	43382350	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr19:43382350T>C	ENST00000244296.2	-	2	282	c.145A>G	c.(145-147)Aag>Gag	p.K49E	PSG1_ENST00000436291.2_Missense_Mutation_p.K49E|PSG1_ENST00000595356.1_Missense_Mutation_p.K49E|PSG1_ENST00000403380.3_Missense_Mutation_p.K49E|PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000312439.6_Missense_Mutation_p.K49E|PSG1_ENST00000595124.1_Missense_Mutation_p.K49E	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				AGAACATCCTTCCCCTCGGAA	0.473000													35	264					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	by1000genomes	TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T														p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000													4	55					0	0	1	0	0
SPDYC	387778	broad.mit.edu	37	11	64939962	64939962	+	Silent	SNP	A	A	G			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr11:64939962A>G	ENST00000377185.2	+	5	484	c.402A>G	c.(400-402)ccA>ccG	p.P134P		NM_001008778.1	NP_001008778.1	Q5MJ68	SPDYC_HUMAN	speedy/RINGO cell cycle regulator family member C	134	Speedy/Ringo box; Required for CDK- binding (By similarity).				cell cycle	nucleus	protein kinase binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						AGATTTTTCCATGGGCCCTGG	0.562000													44	87					0	0	1	0	0
NID1	4811	broad.mit.edu	37	1	236144995	236144995	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr1:236144995G>A	ENST00000264187.6	-	16	3225	c.3143C>T	c.(3142-3144)gCg>gTg	p.A1048V	NID1_ENST00000366595.3_Missense_Mutation_p.A915V	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	1048					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GTCCAGCTTCGCCACTTCTAT	0.498000													22	38					0	0	1	0	0
MTNR1B	4544	broad.mit.edu	37	11	92714797	92714797	+	Silent	SNP	T	T	C			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr11:92714797T>C	ENST00000257068.2	+	2	414	c.408T>C	c.(406-408)atT>atC	p.I136I		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	136					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	CCATCGCCATTAACCGCTACT	0.607000													6	54					0	0	1	0	0
FAM189A2	9413	broad.mit.edu	37	9	72000864	72000864	+	Splice_Site	SNP	G	G	T			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr9:72000864G>T	ENST00000257515.8	+	9	1276		c.e9+1		FAM189A2_ENST00000303068.7_Splice_Site|FAM189A2_ENST00000455972.1_Splice_Site|FAM189A2_ENST00000469179.1_Splice_Site	NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN	family with sequence similarity 189, member A2							integral to membrane				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						GAGGAGAGAGGTGATGTCATT	0.577000													15	35					2.23348e-06	2.4277e-06	1	1	0
CDK16	5127	broad.mit.edu	37	X	47082981	47082981	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chrX:47082981C>T	ENST00000457458.2	+	2	463	c.43C>T	c.(43-45)Cgg>Tgg	p.R15W	CDK16_ENST00000276052.6_Missense_Mutation_p.R83W|CDK16_ENST00000518022.1_Missense_Mutation_p.R9W|CDK16_ENST00000357227.4_Missense_Mutation_p.R9W	NM_033018.3	NP_148978.2	Q00536	CDK16_HUMAN	cyclin-dependent kinase 16	9							ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(3)	11						GAAGATCAAACGGCAGCTGTC	0.532000													3	24					0	0	1	0	0
EXOC7	23265	broad.mit.edu	37	17	74084888	74084888	+	Silent	SNP	G	G	T			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr17:74084888G>T	ENST00000607838.1	-	10	1327	c.1233C>A	c.(1231-1233)ctC>ctA	p.L411L	EXOC7_ENST00000411744.2_Silent_p.L380L|EXOC7_ENST00000405575.4_Silent_p.L411L|EXOC7_ENST00000335146.7_Silent_p.L439L|EXOC7_ENST00000332065.5_Silent_p.L357L|EXOC7_ENST00000467929.2_Silent_p.L347L|EXOC7_ENST00000589210.1_Silent_p.L388L	NM_001145297.2|NM_001145298.2|NM_001145299.2	NP_001138769.1|NP_001138770.1|NP_001138771.1	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	439					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			TGGTCTGCTTGAGGTGTCGCA	0.612000													4	115					1	1	1	1	0
PCDH15	65217	broad.mit.edu	37	10	55587212	55587212	+	Silent	SNP	C	C	G			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr10:55587212C>G	ENST00000373965.2	-	33	4723	c.4329G>C	c.(4327-4329)ccG>ccC	p.P1443P	PCDH15_ENST00000395433.1_Silent_p.P1411P|PCDH15_ENST00000437009.1_Silent_p.P1365P|PCDH15_ENST00000395438.1_Silent_p.P1436P|PCDH15_ENST00000414778.1_Silent_p.P1438P|PCDH15_ENST00000395430.1_Silent_p.P1433P|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Silent_p.P1047P|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395445.1_Silent_p.P1443P|PCDH15_ENST00000320301.6_Silent_p.P1436P|PCDH15_ENST00000395432.2_Silent_p.P1396P|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_Silent_p.P1436P	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1436	Poly-Pro.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				gcggcggcggcgggggcgCTG	0.582000										HNSCC(58;0.16)			5	78					0	0	1	0	0
SLC35F1	222553	broad.mit.edu	37	6	118588282	118588282	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr6:118588282G>A	ENST00000360388.4	+	4	803	c.602G>A	c.(601-603)gGa>gAa	p.G201E		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	201					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TGCATGGTGGGAGCAGATGTG	0.537000													8	170					0	0	1	0	0
PRKCA	5578	broad.mit.edu	37	17	64738870	64738870	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr17:64738870G>A	ENST00000413366.3	+	13	1542	c.1516G>A	c.(1516-1518)Gcc>Acc	p.A506T		NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	protein kinase C, alpha	506	Protein kinase.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	AGATTATATCGCCCCAGAGGT	0.488000													9	18					0	0	1	0	0
UBBP4	0	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	by1000genomes	TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr17:21730916G>T	ENST00000584755.1	+	2	615	c.218G>T	c.(217-219)cGg>cTg	p.R73L	UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L|UBBP4_ENST00000584398.1_Intron														p.R73L(24)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCGGAGAGGTGGT	0.552000													3	64					1	1	1	1	0
MFAP4	4239	broad.mit.edu	37	17	19290401	19290401	+	Silent	SNP	G	G	A			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr17:19290401G>A	ENST00000395592.2	-	1	102	c.31C>T	c.(31-33)Ctg>Ttg	p.L11L	MFAP4_ENST00000299610.4_Intron	NM_001198695.1	NP_001185624.1	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4	0					cell adhesion|signal transduction	microfibril	receptor binding			large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					TCTGTGGCCAGGGGCCTCTGG	0.597000													13	17					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141607789	141607789	+	Silent	SNP	G	G	A			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr2:141607789G>A	ENST00000389484.3	-	29	5792	c.4821C>T	c.(4819-4821)gaC>gaT	p.D1607D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1607					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.D1607D(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCACAGTAACGTCATCAATAT	0.368000										TSP Lung(27;0.18)			10	44					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7579350	7579350	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr17:7579350A>C	ENST00000420246.2	-	4	469	c.337T>G	c.(337-339)Ttc>Gtc	p.F113V	TP53_ENST00000269305.4_Missense_Mutation_p.F113V|TP53_ENST00000359597.4_Missense_Mutation_p.F113V|TP53_ENST00000455263.2_Missense_Mutation_p.F113V|TP53_ENST00000413465.2_Missense_Mutation_p.F113V|TP53_ENST00000445888.2_Missense_Mutation_p.F113V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	113	Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		F -> C (in sporadic cancers; somatic mutation).|F -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|F -> I (in a sporadic cancer; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.F113V(7)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.G112fs*9(1)|p.Y107fs*44(1)|p.G112_S116delGFLHS(1)|p.P13fs*18(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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)		GAATGCAAGAAGCCCAGACGG	0.607000		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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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)			55	26					0	0	1	0	0
AC008103.5	0	broad.mit.edu	37	22	18846025	18846025	+	RNA	SNP	G	G	C	rs5993363		TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr22:18846025G>C	ENST00000412938.1	+	0	3383																											GACGTTGAAGGCTGCCTTCAG	0.647000													3	79					0	0	1	0	0
TPTE2P6	0	broad.mit.edu	37	13	25168489	25168489	+	RNA	SNP	G	G	A	rs142860004	by1000genomes	TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr13:25168489G>A	ENST00000453498.1	+	0	1161																											TGAAAGTGCAGTTTTTCTCTT	0.363000													3	23					0	0	1	0	0
OR5K4	403278	broad.mit.edu	37	3	98073379	98073379	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr3:98073379A>T	ENST00000354924.2	+	1	682	c.682A>T	c.(682-684)Atg>Ttg	p.M228L	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						TGTTTTCAAAATGAAATCCAA	0.338000													3	30					0	0	1	0	0
CROCCP2	0	broad.mit.edu	37	1	16946438	16946438	+	RNA	SNP	G	G	A	rs28392876	by1000genomes	TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr1:16946438G>A	ENST00000412962.1	-	0	1081																											GCCTTCCGCCGGGCCAGCAGC	0.672000													5	42					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26432481	26432481	+	Silent	SNP	A	A	G			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr10:26432481A>G	ENST00000265944.5	+	21	2533	c.2367A>G	c.(2365-2367)ctA>ctG	p.L789L	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	789	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TACTTTCCCTACTTGATGAAG	0.403000													21	30					0	0	1	0	0
EPHB6	0	broad.mit.edu	37	7	142562152	142562152	+	Silent	SNP	G	G	A			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr7:142562152G>A	ENST00000392957.2	+	7	1381	c.594G>A	c.(592-594)gaG>gaA	p.E198E	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Silent_p.E198E	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	198						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					ACGTCAAAGAGCGGAGCTTTG	0.657000													11	254					0	0	1	0	0
SF3B3	23450	broad.mit.edu	37	16	70594469	70594469	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr16:70594469G>A	ENST00000302516.5	+	16	2319	c.2108G>A	c.(2107-2109)cGa>cAa	p.R703Q		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	703					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				AAGCTCTTCCGAGTCCGAATG	0.522000													4	73					0	0	1	0	0
EML5	161436	broad.mit.edu	37	14	89093251	89093251	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr14:89093251G>C	ENST00000554922.1	-	35	4919	c.4671C>G	c.(4669-4671)agC>agG	p.S1557R	EML5_ENST00000553320.1_5'UTR|EML5_ENST00000352093.5_Missense_Mutation_p.S1511R|EML5_ENST00000380664.5_Missense_Mutation_p.S1549R	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1549						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GCCCTTTTTTGCTAAGAAGAG	0.463000													17	30					0	0	1	0	0
ARHGAP11A	9824	broad.mit.edu	37	15	32917835	32917835	+	Splice_Site	SNP	G	G	C			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr15:32917835G>C	ENST00000361627.3	+	6	1584		c.e6+1		ARHGAP11A_ENST00000565905.1_Splice_Site|ARHGAP11A_ENST00000567348.1_Splice_Site|ARHGAP11A_ENST00000563864.1_Splice_Site|ARHGAP11A_ENST00000543522.1_Splice_Site	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		AGTGTAGGAGGTAAGTGGCGG	0.408000													7	90					0	0	1	0	0
MYH10	4628	broad.mit.edu	37	17	8397110	8397110	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr17:8397110C>G	ENST00000360416.3	-	32	4288	c.4150G>C	c.(4150-4152)Gag>Cag	p.E1384Q	MYH10_ENST00000269243.4_Missense_Mutation_p.E1353Q|MYH10_ENST00000396239.1_Missense_Mutation_p.E1374Q|MYH10_ENST00000379980.4_Missense_Mutation_p.E1369Q	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1353					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCCTCCTCCTCCTGCTGCTCC	0.587000													3	44					0	0	1	0	0
KLHL14	57565	broad.mit.edu	37	18	30322013	30322013	+	Splice_Site	SNP	C	C	A			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr18:30322013C>A	ENST00000359358.4	-	3	1386		c.e3-1		KLHL14_ENST00000358095.4_Splice_Site	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14							cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						AGAGCGAATTCTTCACCCAAA	0.433000													9	58					0.000978159	0.00101892	1	1	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			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).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|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 -> 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).		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(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								23	43					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76909629	76909629	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chrX:76909629G>A	ENST00000373344.5	-	14	4490	c.4276C>T	c.(4276-4278)Cga>Tga	p.R1426*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.R1388*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1426					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	p.R1426*(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTAATACGTCGCCTTTTCTTT	0.328000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						33	12					0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53958931	53958931	+	RNA	SNP	C	C	G			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr19:53958931C>G	ENST00000454407.1	+	0	1623							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GTGGCAAGACCTTTAGTCACA	0.408000													12	140					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237754205	237754205	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr1:237754205G>A	ENST00000366574.2	+	31	4390	c.4073G>A	c.(4072-4074)cGt>cAt	p.R1358H	RYR2_ENST00000542537.1_Missense_Mutation_p.R1342H|RYR2_ENST00000360064.6_Missense_Mutation_p.R1356H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1358	4 X approximate repeats.|B30.2/SPRY 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTGCCCGATCGTGTTGACAAA	0.428000													8	22					0	0	1	0	0
ZNF860	344787	broad.mit.edu	37	3	32032046	32032046	+	Missense_Mutation	SNP	G	G	A	rs143925165	by1000genomes	TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr3:32032046G>A	ENST00000360311.4	+	2	2024	c.1475G>A	c.(1474-1476)cGt>cAt	p.R492H		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	492					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						AAGACCTTCCGTCACAATTCA	0.403000													4	82					0	0	1	0	0
FAF1	11124	broad.mit.edu	37	1	50907162	50907162	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr1:50907162delC	ENST00000396153.2	-	19	2354	c.1903delG	c.(1903-1905)agfs	p.E635fs	FAF1_ENST00000545823.1_Frame_Shift_Del_p.E393fs|FAF1_ENST00000371778.4_Frame_Shift_Del_p.E635fs	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	635	UBX.				apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity			breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		AACTTTACCTCCAATAATGAT	0.423													2	4	---	---	---	---					
FAHD2CP	0	broad.mit.edu	37	2	96687233	96687234	+	RNA	DEL	AG	AG	-			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr2:96687233_96687234delAG	ENST00000607780.1	+	0	1061																											TGAAAAGCAAAGAGAGCAAGGG	0.559													3	4	---	---	---	---					
CAMSAP1	157922	broad.mit.edu	37	9	138715799	138715800	+	Frame_Shift_Ins	INS	-	-	T	rs148250832	byFrequency	TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr9:138715799_138715800insT	ENST00000389532.4	-	10	1460_1461	c.1396_1397insA	c.(1396-1398)cagfs	p.Q466fs	CAMSAP1_ENST00000312405.6_Frame_Shift_Ins_p.Q188fs|CAMSAP1_ENST00000409386.3_Frame_Shift_Ins_p.Q477fs|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	466						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GACTCACCTGGTTTTTTTTTCT	0.460													2	4	---	---	---	---					
PNLIPRP2	5408	broad.mit.edu	37	10	118396278	118396279	+	RNA	INS	-	-	T	rs11197776	by1000genomes	TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr10:118396278_118396279insT	ENST00000537242.1	+	0	962				PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		ACAAATTATGGTTTTTTTTTTC	0.426													2	4	---	---	---	---					
ABCC6P1	0	broad.mit.edu	37	16	18593649	18593649	+	RNA	DEL	A	A	-			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr16:18593649delA	ENST00000546162.2	+	0	805					NR_003569.1																						ccctgtctcgaaaaaaaaaaa	0.507													3	4	---	---	---	---					
NPIPB4	440345	broad.mit.edu	37	16	21847949	21847967	+	Frame_Shift_Del	DEL	GCGGCCCCCGCAGACGCTC	GCGGCCCCCGCAGACGCTC	-			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr16:21847949_21847967delGCGGCCCCCGCAGACGCTC	ENST00000451409.1	-	7	2019_2037	c.1192_1210delGAGCGTCTGCGGGGGCCGC	c.(1192-1212)ttfs	p.ERLRGPL398fs	NPIPB4_ENST00000415645.2_Frame_Shift_Del_p.ERLRGPL581fs|NPIPB4_ENST00000537951.1_Intron|NPIPB4_ENST00000357370.5_Frame_Shift_Del_p.PSVCGGR452fs					nuclear pore complex interacting protein family, member B4																		GAGGGTGGAAGCGGCCCCCGCAGACGCTCGGCAGGTGTC	0.566													3	4	---	---	---	---					
RP1-37N7.4	0	broad.mit.edu	37	17	18334142	18334142	+	RNA	DEL	T	T	-			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr17:18334142delT	ENST00000580052.1	+	0	43																											TTGGCAGGGGTGGGGCTCTCA	0.562													3	6	---	---	---	---					
REXO1	57455	broad.mit.edu	37	19	1827021	1827023	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr19:1827021_1827023delGGA	ENST00000170168.4	-	2	1859_1861	c.1765_1767delTCC	c.(1765-1767)del	p.S589del		NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	589	Ser-rich.					nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|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)		CGCTggaggtggaggaggaggag	0.700													3	3	---	---	---	---