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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
NBPF10	100132406	broad.mit.edu	37	1	144828688	144828688	+	Silent	SNP	C	T	T			TCGA-EE-A2GK-06A-11D-A196-08	TCGA-EE-A2GK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d39d79f-ebea-463b-af46-7a59ef21ed1f	76a32d10-71f6-444c-93de-e96ae7e4ffdb	g.chr1:144828688C>T	uc009wig.1	+	21	2921	c.2727C>T	c.(2725-2727)caC>caT	p.H909H	NBPF10_uc010oxo.1_Silent_p.H836H|NBPF10_uc010oxn.1_Silent_p.H809H|NBPF10_uc021oth.1_Silent_p.H571H|NBPF10_uc021otj.1_Silent_p.H938H|NBPF10_uc021oto.1_Silent_p.H726H|NBPF10_uc021otr.1_Silent_p.H238H|NBPF10_uc021ots.1_Intron|NBPF10_uc001ekk.1_Silent_p.H482H|NBPF10_uc010oyd.1_Silent_p.H238H|NBPF10_uc010oye.2_Intron|NBPF10_uc001eli.3_Non-coding_Transcript|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	911								p.H578H(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAACAGCACATCAGCTTCG	0.433000														49			35		0	0	0.000132358	0	0
KIAA1462	57608	broad.mit.edu	37	10	30315538	30315539	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A2GK-06A-11D-A196-08	TCGA-EE-A2GK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d39d79f-ebea-463b-af46-7a59ef21ed1f	76a32d10-71f6-444c-93de-e96ae7e4ffdb	g.chr10:30315538_30315539CC>AA	uc009xle.2	-	2	3675_3676	c.3538_3539GG>TT	c.(3538-3540)ggg>TTg	p.G1180L	KIAA1462_uc001iux.3_Missense_Mutation_p.G1180L|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.G1042L	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	1180										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GGTGACAACCCCGTCCACATCT	0.584000														195			8		0	0	6.4e-05	0	0
TGOLN2	10618	broad.mit.edu	37	2	85554402	85554403	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A2GK-06A-11D-A196-08	TCGA-EE-A2GK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d39d79f-ebea-463b-af46-7a59ef21ed1f	76a32d10-71f6-444c-93de-e96ae7e4ffdb	g.chr2:85554402_85554403GG>TT	uc021vjw.1	-	1	786_787	c.452_453CC>AA	c.(451-453)ccc>cAA	p.P151Q	TGOLN2_uc002spb.3_Missense_Mutation_p.P151Q|TGOLN2_uc002soz.3_Missense_Mutation_p.P151Q|TGOLN2_uc021vjx.1_Missense_Mutation_p.P151Q|TGOLN2_uc002spa.3_Intron|TGOLN2_uc002spc.2_Missense_Mutation_p.P151Q	NM_001206840	NP_001193769	O43493	TGON2_HUMAN	Homo sapiens trans-golgi network protein 2 (TGOLN2), transcript variant 2, mRNA.	151	14 X 14 AA tandem repeats.					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding										CCGACCTGTTGGGGCTGTCTTC	0.569000														583			13		0	0	6.4e-05	0	0
CLCC1	23155	broad.mit.edu	37	1	109482692	109482693	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A2GK-06A-11D-A196-08	TCGA-EE-A2GK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d39d79f-ebea-463b-af46-7a59ef21ed1f	76a32d10-71f6-444c-93de-e96ae7e4ffdb	g.chr1:109482692_109482693GG>TT	uc021ora.1	-	6	879_880	c.868_869CC>AA	c.(868-870)cct>AAt	p.P290N	AKNAD1_uc010ovb.2_Intron|CLCC1_uc001dwg.1_Missense_Mutation_p.P240N|CLCC1_uc001dwf.1_Missense_Mutation_p.P290N|CLCC1_uc009wes.1_Missense_Mutation_p.P169N|CLCC1_uc009wet.1_Intron	NM_001048210	NP_001041675	Q96S66	CLCC1_HUMAN	Homo sapiens chloride channel CLIC-like 1 (CLCC1), transcript variant 1, mRNA.	290						Golgi apparatus|endoplasmic reticulum|integral to membrane|nucleus				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		CAACCAAATAGGGTTGACTAGT	0.342000														529			12		0	0	6.4e-05	0	0
POTEC	388468	broad.mit.edu	37	18	14543019	14543019	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GK-06A-11D-A196-08	TCGA-EE-A2GK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d39d79f-ebea-463b-af46-7a59ef21ed1f	76a32d10-71f6-444c-93de-e96ae7e4ffdb	g.chr18:14543019T>C	uc010dln.3	-	0	581	c.127A>G	c.(127-129)Atg>Gtg	p.M43V	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	43								p.M43I(1)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAAGTGCCCATGTTGCTCTTG	0.587000														164			8		0	0	1.12685e-05	0	0
ABCC8	6833	broad.mit.edu	37	11	17424217	17424218	+	Missense_Mutation	DNP	CG	AT	AT	rs139964066		TCGA-EE-A2GK-06A-11D-A196-08	TCGA-EE-A2GK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d39d79f-ebea-463b-af46-7a59ef21ed1f	76a32d10-71f6-444c-93de-e96ae7e4ffdb	g.chr11:17424217_17424218CG>AT	uc001mnc.3	-	28	3766_3767	c.3640_3641CG>AT	c.(3640-3642)cgg>ATg	p.R1214M		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	1214	ABC transmembrane type-1 2.		R -> Q (in HHF1; severe).|R -> W (in HHF1).		carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CCTGAAGGCCCGGATGGTGGTG	0.589000														456			12		0	0	6.4e-05	0	0
MST1P9	11223	broad.mit.edu	37	1	17084510	17084510	+	Silent	SNP	G	A	A	rs61769731	by1000genomes	TCGA-EE-A2GK-06A-11D-A196-08	TCGA-EE-A2GK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d39d79f-ebea-463b-af46-7a59ef21ed1f	76a32d10-71f6-444c-93de-e96ae7e4ffdb	g.chr1:17084510G>A	uc010ock.2	-	11	1588	c.1588C>T	c.(1588-1590)Cta>Tta	p.L530L	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_Silent_p.L130L					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.									p.L525L(2)|p.L530L(2)		breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						ACCCGCTGTAGGCCTGGCTCT	0.577000														82			10		0	0	3.86212e-05	0	0
C12orf12	196477	broad.mit.edu	37	12	91347702	91347703	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A2GK-06A-11D-A196-08	TCGA-EE-A2GK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d39d79f-ebea-463b-af46-7a59ef21ed1f	76a32d10-71f6-444c-93de-e96ae7e4ffdb	g.chr12:91347702_91347703GG>TT	uc001tbj.3	-	0	1251_1252	c.817_818CC>AA	c.(817-819)ccg>AAg	p.P273K		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	Homo sapiens chromosome 12 open reading frame 12 (C12orf12), mRNA.	273	Glu-rich.							p.P273Q(2)		NS(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	27						caccAGCAGCGGGGCAAGAGAC	0.525000														460			9		0	0	6.4e-05	0	0
WHAMMP3	339005	broad.mit.edu	37	15	23205094	23205094	+	RNA	SNP	G	A	A			TCGA-EE-A2GK-06A-11D-A196-08	TCGA-EE-A2GK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d39d79f-ebea-463b-af46-7a59ef21ed1f	76a32d10-71f6-444c-93de-e96ae7e4ffdb	g.chr15:23205094G>A	uc001yvg.3	-	1		c.701C>T			WHAMMP3_uc010ayc.3_Non-coding_Transcript|WHAMMP3_uc010ayd.3_Non-coding_Transcript|WHAMMP3_uc010aye.1_Non-coding_Transcript					Homo sapiens WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3 (WHAMMP3), non-coding RNA.																		AGTACTGGAAGAACGTGGTTG	0.373000														23			4		0	0	0.00024832	0	0
CIT	11113	broad.mit.edu	37	12	120156512	120156513	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-EE-A2GK-06A-11D-A196-08	TCGA-EE-A2GK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d39d79f-ebea-463b-af46-7a59ef21ed1f	76a32d10-71f6-444c-93de-e96ae7e4ffdb	g.chr12:120156512_120156513CG>AT	uc001txj.2	-	30	4050_4051	c.3994_3995CG>AT	c.(3994-3996)cgg>ATg	p.R1332M	CIT_uc001txh.2_Missense_Mutation_p.R809M|CIT_uc001txi.2_Missense_Mutation_p.R1290M	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	1290					intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		ACCTTCCTCCCGGGCGGACCGG	0.550000														191			7		0	0	6.4e-05	0	0
FRG1B	284802	broad.mit.edu	37	20	29628225	29628225	+	Splice_Site	SNP	A	G	G			TCGA-EE-A2GK-06A-11D-A196-08	TCGA-EE-A2GK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d39d79f-ebea-463b-af46-7a59ef21ed1f	76a32d10-71f6-444c-93de-e96ae7e4ffdb	g.chr20:29628225A>G	uc010ztl.1	+	3	171	c.139_splice	c.e3-2	p.G47_splice	FRG1B_uc002wvm.1_Splice_Site|FRG1B_uc010ztj.1_Splice_Site|FRG1B_uc010gdr.1_Splice_Site|FRG1B_uc010ztk.1_Splice_Site					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGTTTCACTTAGGGGAAAATG	0.358000														45			4		0	0	0.00024832	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GK-06A-11D-A196-08	TCGA-EE-A2GK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d39d79f-ebea-463b-af46-7a59ef21ed1f	76a32d10-71f6-444c-93de-e96ae7e4ffdb	g.chr16:32890622T>G	uc002edh.1	-	4	440	c.264A>C	c.(262-264)aaA>aaC	p.K88N	SLC6A10P_uc002edi.1_Non-coding_Transcript					Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 10, pseudogene (SLC6A10P), non-coding RNA.																		CGTTGGTGTTTTTGTAGACCA	0.617000														20			3		0	0	6.4e-05	0	0
FMR1NB	158521	broad.mit.edu	37	X	147063198	147063199	+	Splice_Site	DNP	CG	AT	AT			TCGA-EE-A2GK-06A-11D-A196-08	TCGA-EE-A2GK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d39d79f-ebea-463b-af46-7a59ef21ed1f	76a32d10-71f6-444c-93de-e96ae7e4ffdb	g.chrX:147063198_147063199CG>AT	uc004fcm.3	+	1	351	c.277_splice	c.e1+1	p.G93_splice		NM_152578	NP_689791	Q8N0W7	FMR1N_HUMAN	Homo sapiens fragile X mental retardation 1 neighbor (FMR1NB), mRNA.	93						integral to membrane				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					ACCTGTGCTCCGGTGAGTGCTG	0.604000														234			6		0	0	6.4e-05	0	0
APBB1	322	broad.mit.edu	37	11	6422246	6422247	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A2GK-06A-11D-A196-08	TCGA-EE-A2GK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d39d79f-ebea-463b-af46-7a59ef21ed1f	76a32d10-71f6-444c-93de-e96ae7e4ffdb	g.chr11:6422246_6422247CC>AA	uc001mdb.1	-	10	1738_1739	c.1638_1639GG>TT	c.(1636-1641)ctgggg>ctTTgg	p.G547W	APBB1_uc001mdd.3_Missense_Mutation_p.G327W|APBB1_uc001mdc.1_Missense_Mutation_p.G547W|APBB1_uc010rab.2_Missense_Mutation_p.G74W	NM_001164	NP_001155	O00213	APBB1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) (APBB1), transcript variant 1, mRNA.	549	PID 2.				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GGTACATTCCCCAGGTAATAGA	0.490000														439			11		0	0	6.4e-05	0	0
CROCCP2	84809	broad.mit.edu	37	1	16945409	16945409	+	RNA	SNP	T	A	A	rs13566		TCGA-EE-A2GK-06A-11D-A196-08	TCGA-EE-A2GK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d39d79f-ebea-463b-af46-7a59ef21ed1f	76a32d10-71f6-444c-93de-e96ae7e4ffdb	g.chr1:16945409T>A	uc010ocf.2	-	3		c.748A>T			CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		GCGGGATAGCTCGGTGGAGAG	0.612000														56			7		0	0	8.12818e-05	0	0
NPTXR	23467	broad.mit.edu	37	22	39222573	39222574	+	Missense_Mutation	DNP	CG	AT	AT	rs139762084	byFrequency	TCGA-EE-A2GK-06A-11D-A196-08	TCGA-EE-A2GK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d39d79f-ebea-463b-af46-7a59ef21ed1f	76a32d10-71f6-444c-93de-e96ae7e4ffdb	g.chr22:39222573_39222574CG>AT	uc003awk.3	-	2	1183_1184	c.1029_1030CG>AT	c.(1027-1032)cccggg>ccATgg	p.G344W		NM_014293	NP_055108	O95502	NPTXR_HUMAN	Homo sapiens neuronal pentraxin receptor (NPTXR), mRNA.	344	Pentaxin.					integral to membrane	metal ion binding	p.P343S(1)		central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					TTGGCCTGCCCGGGCACTGAGT	0.663000														119			5		0	0	6.4e-05	0	0
PSG3	5671	broad.mit.edu	37	19	43382154	43382155	+	Missense_Mutation	DNP	CG	AT	AT	rs142473373		TCGA-EE-A2GK-06A-11D-A196-08	TCGA-EE-A2GK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d39d79f-ebea-463b-af46-7a59ef21ed1f	76a32d10-71f6-444c-93de-e96ae7e4ffdb	g.chr19:43382154_43382155CG>AT	uc002ovd.1	-	1	478_479	c.340_341CG>AT	c.(340-342)cgg>ATg	p.R114M	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Missense_Mutation_p.R114M|PSG3_uc002oun.3_Non-coding_Transcript|PSG3_uc002ovc.3_Missense_Mutation_p.R114M|PSG3_uc002ova.2_Missense_Mutation_p.R114M|PSG3_uc002ouz.2_Missense_Mutation_p.R114M|PSG3_uc002ovb.3_Missense_Mutation_p.R114M	NM_006905	NP_008836	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.	114	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TGCGTCCTCCCGGGTGACATTC	0.450000														384			11		0	0	6.4e-05	0	0
MSH5	4439	broad.mit.edu	37	6	31710673	31710674	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A2GK-06A-11D-A196-08	TCGA-EE-A2GK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d39d79f-ebea-463b-af46-7a59ef21ed1f	76a32d10-71f6-444c-93de-e96ae7e4ffdb	g.chr6:31710673_31710674CC>AA	uc003nwu.2	+	3	419_420	c.291_292CC>AA	c.(289-294)ccccag>ccAAag	p.Q98K	MSH5_uc003nwx.2_Missense_Mutation_p.Q98K|MSH5_uc003nwv.2_Missense_Mutation_p.Q98K|MSH5_uc003nww.2_Missense_Mutation_p.Q98K|MSH5_uc011dof.1_5'Flank	NM_172165	NP_751897	O43196	MSH5_HUMAN	Homo sapiens mutS homolog 5 (E. coli) (MSH5), transcript variant 2, mRNA.	98					chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|ovary(2)|skin(2)	5						AGATCAATCCCCAGTCTGTTGT	0.431000								Direct reversal of damage;Mismatch excision repair (MMR)						620			12		0	0	6.4e-05	0	0
HIRIP3	8479	broad.mit.edu	37	16	30005857	30005858	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A2GK-06A-11D-A196-08	TCGA-EE-A2GK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d39d79f-ebea-463b-af46-7a59ef21ed1f	76a32d10-71f6-444c-93de-e96ae7e4ffdb	g.chr16:30005857_30005858GG>TT	uc002dve.3	-	3	1099_1100	c.608_609CC>AA	c.(607-609)ccc>cAA	p.P203Q	BOLA2_uc010bzb.1_Intron|INO80E_uc002dvg.1_5'Flank|INO80E_uc002dvh.1_5'Flank|HIRIP3_uc002dvf.3_Intron	NM_003609	NP_003600	Q9BW71	HIRP3_HUMAN	Homo sapiens HIRA interacting protein 3 (HIRIP3), transcript variant 1, mRNA.	203	Glu-rich.				chromatin assembly or disassembly	nucleus	protein binding	p.P203P(2)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						TCCTCTGAACGGGTTCTGCCTC	0.505000														365			10		0	0	6.4e-05	0	0
NBPF10	100132406	broad.mit.edu	37	1	144828683	144828683	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GK-06A-11D-A196-08	TCGA-EE-A2GK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d39d79f-ebea-463b-af46-7a59ef21ed1f	76a32d10-71f6-444c-93de-e96ae7e4ffdb	g.chr1:144828683C>G	uc009wig.1	+	21	2916	c.2722C>G	c.(2722-2724)Cag>Gag	p.Q908E	NBPF10_uc010oxo.1_Missense_Mutation_p.Q835E|NBPF10_uc010oxn.1_Missense_Mutation_p.Q808E|NBPF10_uc021oth.1_Missense_Mutation_p.Q570E|NBPF10_uc021otj.1_Missense_Mutation_p.Q937E|NBPF10_uc021oto.1_Missense_Mutation_p.Q725E|NBPF10_uc021otr.1_Missense_Mutation_p.Q237E|NBPF10_uc021ots.1_Intron|NBPF10_uc001ekk.1_Missense_Mutation_p.Q481E|NBPF10_uc010oyd.1_Missense_Mutation_p.Q237E|NBPF10_uc010oye.2_Intron|NBPF10_uc001eli.3_Non-coding_Transcript|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	910								p.Q577E(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ATTTGAGGAACAGCACATCAG	0.438000														50			35		0	0	0.000109025	0	0
KIAA0907	22889	broad.mit.edu	37	1	155886422	155886423	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-EE-A2GK-06A-11D-A196-08	TCGA-EE-A2GK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d39d79f-ebea-463b-af46-7a59ef21ed1f	76a32d10-71f6-444c-93de-e96ae7e4ffdb	g.chr1:155886422_155886423delCT	uc001fmi.1	-	11	1570_1571	c.1546_1547delAG	c.(1546-1548)aggfs	p.R516fs	KIAA0907_uc001fmj.1_Frame_Shift_Del_p.R516fs|KIAA0907_uc009wrl.1_Non-coding_Transcript	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	Homo sapiens KIAA0907 (KIAA0907), mRNA.	516								p.R516fs*21(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TTACCTGTCCCTCTCTCTCTCT	0.396													---	361	---	---	7	---					
TTN	7273	broad.mit.edu	37	2	179588388	179588388	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A2GK-06A-11D-A196-08	TCGA-EE-A2GK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d39d79f-ebea-463b-af46-7a59ef21ed1f	76a32d10-71f6-444c-93de-e96ae7e4ffdb	g.chr2:179588388delC	uc021vsy.1	-	70	17932	c.17707delG	c.(17707-17709)gaafs	p.E5903fs	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Frame_Shift_Del_p.E2564fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6830	Ig-like 40.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTAGTACTTCCAAAGGTTCA	0.403													---	4	---	---	2	---					
TRERF1	55809	broad.mit.edu	37	6	42196333	42196333	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A2GK-06A-11D-A196-08	TCGA-EE-A2GK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d39d79f-ebea-463b-af46-7a59ef21ed1f	76a32d10-71f6-444c-93de-e96ae7e4ffdb	g.chr6:42196333delT	uc003ose.2	-	17	3976	c.3413delA	c.(3412-3414)aagfs	p.K1138fs	TRERF1_uc011duq.1_Frame_Shift_Del_p.K1035fs|TRERF1_uc003osb.2_Frame_Shift_Del_p.K886fs|TRERF1_uc003osc.2_Frame_Shift_Del_p.K874fs|TRERF1_uc003osd.2_Frame_Shift_Del_p.K1118fs	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	1118	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	p.P1138P(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTTCTGAGCCTTTTGCCTCTG	0.542													---	826	---	---	8	---					
FAM22F	54754	broad.mit.edu	37	9	97080945	97080947	+	In_Frame_Del	DEL	AGA	-	-			TCGA-EE-A2GK-06A-11D-A196-08	TCGA-EE-A2GK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d39d79f-ebea-463b-af46-7a59ef21ed1f	76a32d10-71f6-444c-93de-e96ae7e4ffdb	g.chr9:97080945_97080947delAGA	uc004aup.1	-	6	2092_2094	c.2071_2073delTCT	c.(2071-2073)tctdel	p.S691del		NM_017561	NP_060031	A1L443	FA22F_HUMAN	Homo sapiens family with sequence similarity 22, member F (FAM22F), mRNA.	691				Missing (in Ref. 2; AAI30391 and 3; CAB61394).				p.S557delS(1)		central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(2)|prostate(2)|skin(2)|urinary_tract(1)	19		Acute lymphoblastic leukemia(62;0.136)				TGCTGGCAGGAGAAGGTGATGGG	0.611													---	5	---	---	6	---					
HNF1A	6927	broad.mit.edu	37	12	121432115	121432115	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A2GK-06A-11D-A196-08	TCGA-EE-A2GK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d39d79f-ebea-463b-af46-7a59ef21ed1f	76a32d10-71f6-444c-93de-e96ae7e4ffdb	g.chr12:121432115delG	uc001tzg.3	+	3	885	c.862delG	c.(862-864)gggfs	p.G288fs	HNF1A_uc021rex.1_Intron|HNF1A_uc021rey.1_Intron|HNF1A_uc021rez.1_Intron|HNF1A_uc001tze.2_Frame_Shift_Del_p.G288fs|HNF1A_uc001tzf.3_Frame_Shift_Del_p.G288fs|HNF1A_uc010szn.2_Frame_Shift_Del_p.G288fs|HNF1A_uc021rfa.1_Frame_Shift_Del_p.G288fs|HNF1A_uc021rfb.1_Frame_Shift_Del_p.G160fs|HNF1A_uc021rfc.1_Intron	NM_000545	NP_000536	P20823	HNF1A_HUMAN	Homo sapiens HNF1 homeobox A (HNF1A), mRNA.	288					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.S287S(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CACGTACAGCGGGCCCCCCCC	0.672									Hepatic Adenoma, Familial Clustering of				---	272	---	---	10	---					
CHD9	80205	broad.mit.edu	37	16	53191095	53191095	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A2GK-06A-11D-A196-08	TCGA-EE-A2GK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d39d79f-ebea-463b-af46-7a59ef21ed1f	76a32d10-71f6-444c-93de-e96ae7e4ffdb	g.chr16:53191095delT	uc002ehb.3	+	0	1258	c.1094delT	c.(1093-1095)gttfs	p.V365fs	CHD9_uc002egy.3_Frame_Shift_Del_p.V365fs|CHD9_uc002egz.1_Frame_Shift_Del_p.V365fs|CHD9_uc002ehc.3_Frame_Shift_Del_p.V365fs	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	365					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CCAGATCCTGTTGACTCAGGA	0.343													---	4	---	---	2	---					
