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
IFT88	8100	broad.mit.edu	37	13	21189985	21189985	+	Missense_Mutation	SNP	T	G	G			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr13:21189985T>G	uc001unh.3	+	15	1589	c.1193T>G	c.(1192-1194)gTa>gGa	p.V398G	IFT88_uc001uni.3_Missense_Mutation_p.V389G|IFT88_uc001unj.3_Missense_Mutation_p.V388G|IFT88_uc010tcq.2_Missense_Mutation_p.V369G|IFT88_uc001unk.3_Missense_Mutation_p.V144G|IFT88_uc001unl.1_Missense_Mutation_p.V16G	NM_175605	NP_006522	Q13099	IFT88_HUMAN	Homo sapiens intraflagellar transport 88 homolog (Chlamydomonas) (IFT88), transcript variant 1, mRNA.	398					cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		ATTGCTCCTGTAATTGAAACA	0.279000														96			39		0	0	1	0	0
CLMN	79789	broad.mit.edu	37	14	95669398	95669398	+	Missense_Mutation	SNP	T	C	C			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr14:95669398T>C	uc001yef.2	-	8	2404	c.2288A>G	c.(2287-2289)tAt>tGt	p.Y763C		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	Homo sapiens calmin (calponin-like, transmembrane) (CLMN), mRNA.	763						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		GTCTGGCATATAGCCCTCTGG	0.567000														108			69		0	0	1	0	0
SEC31B	25956	broad.mit.edu	37	10	102255181	102255181	+	Missense_Mutation	SNP	C	G	G			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr10:102255181C>G	uc001krc.1	-	18	2535	c.2433G>C	c.(2431-2433)gaG>gaC	p.E811D	SEC31B_uc010qpo.1_Missense_Mutation_p.E810D|SEC31B_uc001krd.1_Missense_Mutation_p.E348D|SEC31B_uc001krf.1_Missense_Mutation_p.E348D|SEC31B_uc001kre.1_Missense_Mutation_p.E348D|SEC31B_uc001krg.1_Missense_Mutation_p.E380D	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	Homo sapiens SEC31 homolog B (S. cerevisiae) (SEC31B), mRNA.	811					protein transport|vesicle-mediated transport	ER to Golgi transport vesicle membrane|endoplasmic reticulum membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		AAGATGATGTCTCTTTAGAGT	0.488000														13			13		0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132551479	132551479	+	Missense_Mutation	SNP	T	A	A			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr12:132551479T>A	uc001ujn.3	+	48	8866	c.8714T>A	c.(8713-8715)aTc>aAc	p.I2905N	EP400_uc021rgq.1_Missense_Mutation_p.I2904N|EP400_uc001ujm.3_Missense_Mutation_p.I2824N|EP400_uc001ujp.3_Missense_Mutation_p.I115N	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2941					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GTCGCGGGGATCAGCGTGGCG	0.687000														41			26		0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35711016	35711016	+	Silent	SNP	C	T	T			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr9:35711016C>T	uc003zxt.2	-	30	4437	c.4083G>A	c.(4081-4083)aaG>aaA	p.K1361K		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Homo sapiens talin 1 (TLN1), mRNA.	1361	Interaction with SYNM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	LIM domain binding|actin binding|insulin receptor binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TATCACACTCCTTCTGGCCGG	0.532000														115			42		0	0	1	0	0
OR2M1P	388762	broad.mit.edu	37	1	248285883	248285883	+	Missense_Mutation	SNP	C	A	A			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr1:248285883C>A	uc001idy.1	+	0	446	c.446C>A	c.(445-447)tCc>tAc	p.S149Y						Homo sapiens olfactory receptor, family 2, subfamily M, member 1 pseudogene (OR2M1P), non-coding RNA.																		ATCATTGCTTCCTATGCTGGA	0.428000														119			35		2.09667e-21	2.18917e-21	1	1	0
PLEKHJ1	55111	broad.mit.edu	37	19	2234038	2234038	+	Missense_Mutation	SNP	G	T	T			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr19:2234038G>T	uc002lvf.1	-	4	1047	c.343C>A	c.(343-345)Ctc>Atc	p.L115I	SF3A2_uc002lvg.3_5'Flank	NM_018049	NP_060519	Q9NW61	PKHJ1_HUMAN	Homo sapiens pleckstrin homology domain containing, family J member 1 (PLEKHJ1), mRNA.	115							protein binding			endometrium(1)|kidney(1)	2				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)		TAGAAGATGAGGCTTCTCCGC	0.642000														287			146		8.40228e-78	9.17788e-78	1	1	0
DTX3L	151636	broad.mit.edu	37	3	122283388	122283388	+	Missense_Mutation	SNP	G	T	T			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr3:122283388G>T	uc003efk.3	+	0	204	c.115G>T	c.(115-117)Ggg>Tgg	p.G39W	DTX3L_uc010hrj.3_Missense_Mutation_p.G39W|PARP9_uc003eff.4_5'Flank|PARP9_uc010hri.3_5'Flank|PARP9_uc011bjs.2_5'Flank|PARP9_uc003efg.3_5'Flank|PARP9_uc003efi.3_5'UTR|PARP9_uc003efh.3_5'UTR|PARP9_uc003efj.2_5'Flank	NM_138287	NP_612144	Q8TDB6	DTX3L_HUMAN	Homo sapiens deltex 3-like (Drosophila) (DTX3L), mRNA.	39					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		CTCGGGCGGCGGGGAGTGCAC	0.672000														233			52		6.56871e-35	7.06634e-35	1	1	0
CGREF1	10669	broad.mit.edu	37	2	27327221	27327221	+	Missense_Mutation	SNP	G	T	T	rs112618911	byFrequency	TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr2:27327221G>T	uc010eyr.2	-	0	385	c.380C>A	c.(379-381)aCg>aAg	p.T127K	CGREF1_uc010ylf.2_Intron|CGREF1_uc021vez.1_Missense_Mutation_p.T5K|CGREF1_uc002riq.3_Missense_Mutation_p.T5K|CGREF1_uc021vfa.1_Missense_Mutation_p.T5K|CGREF1_uc010eys.2_Missense_Mutation_p.T5K|CGREF1_uc002rir.2_Missense_Mutation_p.T5K	NM_006569	NP_006560	Q99674	CGRE1_HUMAN	Homo sapiens cell growth regulator with EF-hand domain 1 (CGREF1), transcript variant 1, mRNA.	5	EF-hand 2.				cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACTGTCATCGTCAAAGGTAA	0.567000														88			34		1.22384e-17	1.24132e-17	1	1	0
ESF1	51575	broad.mit.edu	37	20	13695769	13695769	+	Missense_Mutation	SNP	A	T	T			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr20:13695769A>T	uc002woj.3	-	13	2416	c.2308T>A	c.(2308-2310)Ttg>Atg	p.L770M		NM_016649	NP_057733	Q9H501	ESF1_HUMAN	Homo sapiens ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) (ESF1), mRNA.	770	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm		p.L770F(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						AAATTGAACAAGTGGGAAGTG	0.348000														45			34		0	0	1	0	0
SLC43A3	29015	broad.mit.edu	37	11	57188512	57188512	+	Missense_Mutation	SNP	C	T	T	rs148055054		TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr11:57188512C>T	uc010rjr.2	-	6	845	c.503G>A	c.(502-504)cGt>cAt	p.R168H	SLC43A3_uc001nke.3_Missense_Mutation_p.R54H|SLC43A3_uc001nkg.3_Missense_Mutation_p.R155H|SLC43A3_uc001nkh.3_Missense_Mutation_p.R155H|SLC43A3_uc009yme.3_Missense_Mutation_p.R155H|SLC43A3_uc001nki.3_Missense_Mutation_p.R155H|SLC43A3_uc009ymf.1_Missense_Mutation_p.R155H|SLC43A3_uc010rjs.1_Missense_Mutation_p.R155H|SLC43A3_uc009ymg.1_Missense_Mutation_p.R168H	NM_199329	NP_955361	Q8NBI5	S43A3_HUMAN	Homo sapiens solute carrier family 43, member 3 (SLC43A3), mRNA.	155					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						GATGGTCGAACGGTGTTGGCC	0.448000														43			33		0	0	1	0	0
ALS2	57679	broad.mit.edu	37	2	202626257	202626257	+	Nonsense_Mutation	SNP	G	A	A			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr2:202626257G>A	uc002uyo.3	-	3	816	c.460C>T	c.(460-462)Cag>Tag	p.Q154*	ALS2_uc002uyp.4_Nonsense_Mutation_p.Q154*|ALS2_uc002uyq.3_Nonsense_Mutation_p.Q154*|ALS2_uc002uyr.3_Nonsense_Mutation_p.Q154*	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) (ALS2), transcript variant 1, mRNA.	154					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity|protein homodimerization activity|protein serine/threonine kinase activator activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CACGCCAACTGTAAAATCCTG	0.522000														59			51		0	0	1	0	0
UBA2	10054	broad.mit.edu	37	19	34921484	34921484	+	Missense_Mutation	SNP	G	C	C			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr19:34921484G>C	uc002nvk.3	+	1	212	c.142G>C	c.(142-144)Gat>Cat	p.D48H	UBA2_uc010xrx.1_Intron|UBA2_uc002nvl.3_5'UTR	NM_005499	NP_005490	Q9UBT2	SAE2_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 2 (UBA2), mRNA.	48					protein sumoylation	nucleus	ATP binding|SUMO activating enzyme activity|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TTTGTAGATTGATCTGGATAC	0.358000														89			45		0	0	1	0	0
TMEM214	54867	broad.mit.edu	37	2	27259433	27259433	+	Missense_Mutation	SNP	T	G	G			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr2:27259433T>G	uc002ria.4	+	5	909	c.799T>G	c.(799-801)Ttt>Gtt	p.F267V	TMEM214_uc002rib.4_Missense_Mutation_p.F222V	NM_017727	NP_060197	Q6NUQ4	TM214_HUMAN	Homo sapiens transmembrane protein 214 (TMEM214), transcript variant 1, mRNA.	267						integral to membrane	protein binding			kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TCAAGCAGGTTTTGCCAACCT	0.567000														377			152		0	0	1	0	0
FBXO22	26263	broad.mit.edu	37	15	76196905	76196905	+	Missense_Mutation	SNP	G	A	A			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr15:76196905G>A	uc002bbk.3	+	1	319	c.214G>A	c.(214-216)Ggc>Agc	p.G72S	FBXO22_uc002bbj.2_Missense_Mutation_p.G72S|FBXO22_uc002bbl.3_Intron	NM_147188	NP_671717	Q8NEZ5	FBX22_HUMAN	Homo sapiens F-box protein 22 (FBXO22), transcript variant 1, mRNA.	72					ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GATCTCCGCAGGCCTGGCGGA	0.602000														175			59		0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126753406	126753406	+	Missense_Mutation	SNP	G	A	A			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr5:126753406G>A	uc003kuh.4	+	10	1569	c.1207G>A	c.(1207-1209)Gga>Aga	p.G403R	MEGF10_uc010jdc.1_Missense_Mutation_p.G403R|MEGF10_uc010jdd.1_Missense_Mutation_p.G403R|MEGF10_uc003kui.4_Missense_Mutation_p.G403R	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA.	403	Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		ATGTTCTCCTGGATTCTACGG	0.532000														49			44		0	0	1	0	0
ST3GAL4	6484	broad.mit.edu	37	11	126276866	126276866	+	Missense_Mutation	SNP	G	C	C			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr11:126276866G>C	uc001qdx.1	+	1	114	c.97G>C	c.(97-99)Gag>Cag	p.E33Q	ST3GAL4_uc001qds.3_Missense_Mutation_p.E44Q|ST3GAL4_uc001qdu.3_Missense_Mutation_p.E40Q|ST3GAL4_uc021qry.1_Missense_Mutation_p.E44Q|ST3GAL4_uc009zce.3_Missense_Mutation_p.E40Q|ST3GAL4_uc001qdw.3_Missense_Mutation_p.E43Q|ST3GAL4_uc001qdz.3_5'Flank			Q11206	SIA4C_HUMAN	Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 4 (ST3GAL4), transcript variant 3, mRNA.	44					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		AGAGAAGAAGGAGCCGTGCCT	0.547000														206			122		0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3808859	3808859	+	Missense_Mutation	SNP	A	G	G			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr16:3808859A>G	uc002cvv.3	-	16	3569	c.3365T>C	c.(3364-3366)aTt>aCt	p.I1122T	CREBBP_uc002cvw.3_Missense_Mutation_p.I1084T	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	1122	Bromo.				N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.G1121*(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ACTTACTGGAATTCCGAGGAG	0.438000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome							41			13		0	0	1	0	0
LILRB2	10288	broad.mit.edu	37	19	54783677	54783677	+	Silent	SNP	C	T	T			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr19:54783677C>T	uc002qfb.3	-	3	590	c.324G>A	c.(322-324)gaG>gaA	p.E108E	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Silent_p.E108E|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Silent_p.E108E|LILRB2_uc010yet.2_5'UTR|LILRB2_uc010yeu.1_Non-coding_Transcript|MIR4752_uc021vbj.1_5'Flank	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	108	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	p.S107C(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGTCACTGAGCTCAGACCACC	0.602000														218			98		0	0	1	0	0
GHDC	84514	broad.mit.edu	37	17	40344972	40344972	+	Silent	SNP	C	T	T			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr17:40344972C>T	uc002hzd.3	-	2	823	c.339G>A	c.(337-339)caG>caA	p.Q113Q	GHDC_uc002hzg.2_Silent_p.Q113Q|GHDC_uc010wgg.2_Intron|GHDC_uc002hze.4_Silent_p.Q113Q|GHDC_uc002hzf.4_Silent_p.Q113Q|GHDC_uc010cxz.2_Non-coding_Transcript	NM_032484	NP_115873	Q8N2G8	GHDC_HUMAN	Homo sapiens GH3 domain containing (GHDC), transcript variant 1, mRNA.	113						endoplasmic reticulum|nuclear envelope				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		GGGGCAGTGGCTGCTCTCCAC	0.592000														242			243		0	0	1	0	0
HERPUD1	9709	broad.mit.edu	37	16	56970652	56970652	+	Missense_Mutation	SNP	G	T	T			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr16:56970652G>T	uc002eke.1	+	3	763	c.354G>T	c.(352-354)gaG>gaT	p.E118D	HERPUD1_uc010vhj.1_Missense_Mutation_p.E179D|HERPUD1_uc002ekf.1_Missense_Mutation_p.E117D|HERPUD1_uc002ekg.1_Missense_Mutation_p.E93D|HERPUD1_uc010cco.1_Missense_Mutation_p.E179D|HERPUD1_uc010ccp.1_Missense_Mutation_p.E178D|HERPUD1_uc002ekh.1_5'UTR	NM_014685	NP_055500	Q15011	HERP1_HUMAN	Homo sapiens homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1 (HERPUD1), transcript variant 1, mRNA.	118						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						AGTATCCTGAGGATTCCTCAA	0.443000			T	ERG	prostate									31			39		2.05212e-20	2.1116e-20	1	1	0
MYBPC1	4604	broad.mit.edu	37	12	102038482	102038482	+	Missense_Mutation	SNP	A	T	T			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr12:102038482A>T	uc001tii.3	+	9	938	c.798A>T	c.(796-798)aaA>aaT	p.K266N	MYBPC1_uc001tif.2_Missense_Mutation_p.K279N|MYBPC1_uc001tig.3_Missense_Mutation_p.K291N|MYBPC1_uc010svr.2_Missense_Mutation_p.K266N|MYBPC1_uc010svs.2_Missense_Mutation_p.K266N|MYBPC1_uc001tij.3_Missense_Mutation_p.K266N|MYBPC1_uc010svt.2_Missense_Mutation_p.K254N|MYBPC1_uc010svu.2_Missense_Mutation_p.K247N|MYBPC1_uc001tik.3_Missense_Mutation_p.K240N|MYBPC1_uc001tih.3_Missense_Mutation_p.K291N|MYBPC1_uc010svq.2_Missense_Mutation_p.K253N	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA.	266	Ig-like C2-type 2.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						AGGTTGACAAAGGAGGCAGAG	0.368000														34			14		0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117670	117670	+	RNA	SNP	G	A	A			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chrGL000205.1:117670G>A	uc002kgk.4	+	0		c.1048G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		AGTTCAGAGCGTGGAGCAGAT	0.607000														48			12		0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	C	C			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr3:195505836G>C	uc021xjp.1	-	1	12771	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_Intron|MUC4_uc021xjn.1_Intron|MUC4_uc021xjo.1_Intron|MUC4_uc021xjg.1_Intron|MUC4_uc021xjh.1_Intron|MUC4_uc021xji.1_Intron|MUC4_uc021xjj.1_Intron|MUC4_uc021xjk.1_Intron|MUC4_uc021xjl.1_Intron|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	968					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597000														22			5		0	0	1	0	0
C5orf51	285636	broad.mit.edu	37	5	41911262	41911262	+	Missense_Mutation	SNP	A	T	T			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr5:41911262A>T	uc003jmo.3	+	3	467	c.467A>T	c.(466-468)aAa>aTa	p.K156I		NM_175921	NP_787117	A6NDU8	CE051_HUMAN	Homo sapiens chromosome 5 open reading frame 51 (C5orf51), mRNA.	156										endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						CTCTTAAGAAAATCCAGTTTG	0.383000														3			6		0	0	1	0	0
PDCD6	10016	broad.mit.edu	37	5	311485	311485	+	Missense_Mutation	SNP	G	A	A			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr5:311485G>A	uc003jat.1	+	4	545	c.445G>A	c.(445-447)Gac>Aac	p.D149N	AHRR_uc003jav.3_Intron|AHRR_uc003jaw.3_Intron|AHRR_uc010isy.3_Intron|PDCD6_uc003jau.1_Missense_Mutation_p.D179N	NM_013232	NP_037364	O75340	PDCD6_HUMAN	Homo sapiens programmed cell death 6 (PDCD6), mRNA.	149	EF-hand 4.				induction of apoptosis by extracellular signals|response to calcium ion	endoplasmic reticulum membrane|nuclear membrane	binding, bridging|calcium ion binding|calcium-dependent protein binding			breast(2)|endometrium(1)|large_intestine(4)|lung(1)	8			Epithelial(17;0.00193)|OV - Ovarian serous cystadenocarcinoma(19;0.00489)|all cancers(22;0.00511)|Lung(60;0.113)			GATTGCCTTCGACGACTTCAT	0.582000														105			33		0	0	1	0	0
CEBPZ	10153	broad.mit.edu	37	2	37454852	37454852	+	Missense_Mutation	SNP	G	A	A			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr2:37454852G>A	uc002rpz.3	-	1	1514	c.1484C>T	c.(1483-1485)cCt>cTt	p.P495L		NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	Homo sapiens CCAAT/enhancer binding protein (C/EBP), zeta (CEBPZ), mRNA.	495					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				CTGGGAATAAGGGTATGCCCT	0.368000														12			18		0	0	1	0	0
NDUFB11	54539	broad.mit.edu	37	X	47002143	47002143	+	Splice_Site	SNP	T	G	G			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chrX:47002143T>G	uc004dhc.3	-	2	739	c.208_splice	c.e2-1	p.N70_splice	NDUFB11_uc004dhd.3_Splice_Site_p.N70_splice|RBM10_uc004dhe.2_5'Flank|RBM10_uc004dhf.3_5'Flank|RBM10_uc004dhi.3_5'Flank|RBM10_uc004dhh.3_5'Flank|RBM10_uc010nhq.3_5'Flank|RBM10_uc004dhg.3_5'Flank	NM_019056	NP_061929	Q9NX14	NDUBB_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa (NDUFB11), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	70					respiratory electron transport chain|transport	integral to membrane|mitochondrial respiratory chain complex I				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7						GAGTCTGGGTTCTGTGGAGAA	0.512000														161			7		0	0	1	0	0
GHDC	84514	broad.mit.edu	37	17	40344945	40344945	+	Missense_Mutation	SNP	G	T	T			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr17:40344945G>T	uc002hzd.3	-	2	850	c.366C>A	c.(364-366)gaC>gaA	p.D122E	GHDC_uc002hzg.2_Missense_Mutation_p.D122E|GHDC_uc010wgg.2_Intron|GHDC_uc002hze.4_Missense_Mutation_p.D122E|GHDC_uc002hzf.4_Missense_Mutation_p.D122E|GHDC_uc010cxz.2_Non-coding_Transcript	NM_032484	NP_115873	Q8N2G8	GHDC_HUMAN	Homo sapiens GH3 domain containing (GHDC), transcript variant 1, mRNA.	122						endoplasmic reticulum|nuclear envelope				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		CCTCCCCAAGGTCCTGGTTTG	0.607000														275			202		9.50237e-82	1.05417e-81	1	1	0
ACAD10	80724	broad.mit.edu	37	12	112174685	112174685	+	Missense_Mutation	SNP	T	A	A			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr12:112174685T>A	uc009zvx.3	+	12	1884	c.1684T>A	c.(1684-1686)Tat>Aat	p.Y562N	ACAD10_uc001tsp.3_Missense_Mutation_p.Y531N|ACAD10_uc001tsq.3_Missense_Mutation_p.Y531N|ACAD10_uc001tss.1_Non-coding_Transcript	NM_001136538	NP_001130010	Q6JQN1	ACD10_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 10 (ACAD10), transcript variant 1, mRNA.	531							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						TGCAGAGGAGTATTTCAGGAT	0.502000														70			44		0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141580761	141580761	+	Nonsense_Mutation	SNP	G	C	C			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr4:141580761G>C	uc010ioj.3	-	10	2174	c.1902C>G	c.(1900-1902)taC>taG	p.Y634*		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	634	Rab-GAP TBC.					intracellular	Rab GTPase activator activity|calcium ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TGGTGTTGTAGTAATCTGGGA	0.458000														3			2		0	0	1	0	0
IFT88	8100	broad.mit.edu	37	13	21189988	21189988	+	Missense_Mutation	SNP	T	A	A			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr13:21189988T>A	uc001unh.3	+	15	1592	c.1196T>A	c.(1195-1197)aTt>aAt	p.I399N	IFT88_uc001uni.3_Missense_Mutation_p.I390N|IFT88_uc001unj.3_Missense_Mutation_p.I389N|IFT88_uc010tcq.2_Missense_Mutation_p.I370N|IFT88_uc001unk.3_Missense_Mutation_p.I145N|IFT88_uc001unl.1_Missense_Mutation_p.I17N	NM_175605	NP_006522	Q13099	IFT88_HUMAN	Homo sapiens intraflagellar transport 88 homolog (Chlamydomonas) (IFT88), transcript variant 1, mRNA.	399					cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		GCTCCTGTAATTGAAACATCT	0.279000														97			37		0	0	1	0	0
MARVELD3	91862	broad.mit.edu	37	16	71674415	71674415	+	Missense_Mutation	SNP	T	A	A			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr16:71674415T>A	uc002fau.3	+	2	781	c.718T>A	c.(718-720)Tac>Aac	p.Y240N	PHLPP2_uc002fav.3_Intron|MARVELD3_uc010cge.3_3'UTR	NM_001017967	NP_001017967	Q96A59	MALD3_HUMAN	Homo sapiens MARVEL domain containing 3 (MARVELD3), transcript variant 1, mRNA.	240	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				TGGGAACAACTACTACTCACC	0.572000														194			69		0	0	1	0	0
ZNF665	79788	broad.mit.edu	37	19	53668284	53668284	+	Nonsense_Mutation	SNP	T	A	A			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr19:53668284T>A	uc010eqm.1	-	3	1559	c.1459A>T	c.(1459-1461)Aag>Tag	p.K487*		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	Homo sapiens zinc finger protein 665 (ZNF665), mRNA.	422					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TCATCACACTTGTAAGGTTTC	0.413000														138			66		0	0	1	0	0
NOX1	27035	broad.mit.edu	37	X	100099033	100099033	+	Missense_Mutation	SNP	T	C	C			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chrX:100099033T>C	uc004egj.3	-	12	1809	c.1603A>G	c.(1603-1605)Act>Gct	p.T535A	NOX1_uc004egl.4_Missense_Mutation_p.T486A|NOX1_uc010nne.3_Missense_Mutation_p.T498A	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN	Homo sapiens NADPH oxidase 1 (NOX1), transcript variant NOH-1L, mRNA.	535	Interaction with NOXO1.				FADH2 metabolic process|angiogenesis|cell migration|electron transport chain|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	NADPH oxidase complex|cell junction|early endosome|invadopodium membrane	Rac GTPase binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						TTTGCCAAAGTCCGAGGGCCA	0.433000														19			13		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40366038	40366038	+	Silent	SNP	C	G	G			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr19:40366038C>G	uc002omp.4	-	29	14204	c.14196G>C	c.(14194-14196)ccG>ccC	p.P4732P		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4732						extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GACAGAAGTCCGGCCGCCTCC	0.647000														85			44		0	0	1	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070213	141070213	+	Silent	SNP	A	G	G			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr9:141070213A>G	uc010ncq.3	+	3	1293	c.453A>G	c.(451-453)tcA>tcG	p.S151S						Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA.																		AGGGCAGCTCAAAATCCAGGA	0.632000														41			9		0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72984698	72984698	+	Silent	SNP	G	A	A			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr16:72984698G>A	uc002fck.3	-	2	3559	c.2886C>T	c.(2884-2886)ggC>ggT	p.G962G	ZFHX3_uc002fcl.3_Silent_p.G48G	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	962					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TCATGTGCAGGCCCAGCATGT	0.607000														164			46		0	0	1	0	0
TTC35	9694	broad.mit.edu	37	8	109498794	109498794	+	Missense_Mutation	SNP	C	G	G			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr8:109498794C>G	uc003ymw.1	+	10	896	c.861C>G	c.(859-861)gaC>gaG	p.D287E		NM_014673	NP_055488	Q15006	TTC35_HUMAN	Homo sapiens tetratricopeptide repeat domain 35 (TTC35), mRNA.	287						endoplasmic reticulum|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(57;2.34e-10)			CTGTCGAAGACATGTTGGAAA	0.338000														15			3		0	0	1	0	0
DPYSL2	1808	broad.mit.edu	37	8	26505196	26505196	+	Missense_Mutation	SNP	T	A	A			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr8:26505196T>A	uc003xfb.2	+	10	1592	c.1161T>A	c.(1159-1161)aaT>aaA	p.N387K	DPYSL2_uc003xfa.3_Missense_Mutation_p.N492K|DPYSL2_uc011lah.2_Missense_Mutation_p.N351K	NM_001386	NP_001377	Q16555	DPYL2_HUMAN	Homo sapiens dihydropyrimidinase-like 2 (DPYSL2), transcript variant 2, mRNA.	387					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		CCAGCACCAATGCAGCCAAAG	0.552000														59			104		0	0	1	0	0
NUCB1	4924	broad.mit.edu	37	19	49422348	49422348	+	Missense_Mutation	SNP	G	A	A			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr19:49422348G>A	uc002plb.4	+	8	1212	c.878G>A	c.(877-879)cGa>cAa	p.R293Q	NUCB1_uc002pla.3_Missense_Mutation_p.R293Q|Mir_324_uc021uxc.1_5'Flank|NUCB1_uc002pld.3_5'UTR	NM_006184	NP_006175	Q02818	NUCB1_HUMAN	Homo sapiens nucleobindin 1 (NUCB1), mRNA.	293	Binds to GNAI2 and GNAI3 (By similarity).|EF-hand 2.					ER-Golgi intermediate compartment|Golgi apparatus|extracellular space|membrane|microtubule cytoskeleton	DNA binding|calcium ion binding			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		GAGGAGGAGCGACTGCGCATG	0.612000														63			37		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39039030	39039030	+	Silent	SNP	T	C	C			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr19:39039030T>C	uc002oit.3	+	88	12382	c.12252T>C	c.(12250-12252)cgT>cgC	p.R4084R	RYR1_uc002oiu.3_Silent_p.R4079R|RYR1_uc002oiv.1_Silent_p.R993R	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	4084					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CGGATCCCCGTGGCCTCATCT	0.557000														166			77		0	0	1	0	0
CAP2	10486	broad.mit.edu	37	6	17507928	17507928	+	Silent	SNP	T	C	C			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr6:17507928T>C	uc003ncb.3	+	5	744	c.501T>C	c.(499-501)acT>acC	p.T167T	CAP2_uc010jpk.1_Non-coding_Transcript|CAP2_uc011dja.2_Silent_p.T141T|CAP2_uc011djb.2_Intron|CAP2_uc011djc.2_Intron|CAP2_uc011djd.2_Intron	NM_006366	NP_006357	P40123	CAP2_HUMAN	Homo sapiens CAP, adenylate cyclase-associated protein, 2 (yeast) (CAP2), mRNA.	167					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			CCTTTTACACTAACAGGGTCT	0.413000														69			40		0	0	1	0	0
KDM4B	23030	broad.mit.edu	37	19	5131903	5131903	+	Silent	SNP	G	C	C			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr19:5131903G>C	uc010xim.2	+	12	2001	c.1893G>C	c.(1891-1893)ccG>ccC	p.P631P	KDM4B_uc002mbq.4_Silent_p.P597P|KDM4B_uc002mbr.4_Silent_p.P355P	NM_015015	NP_055830	O94953	KDM4B_HUMAN	Homo sapiens lysine (K)-specific demethylase 4B (KDM4B), mRNA.	597					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TTCAGGCACCGTCCACATTTT	0.652000														49			15		0	0	1	0	0
MAOA	4128	broad.mit.edu	37	X	43590945	43590945	+	Missense_Mutation	SNP	A	C	C			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chrX:43590945A>C	uc004dfy.3	+	7	981	c.800A>C	c.(799-801)aAa>aCa	p.K267T	MAOA_uc011mkw.2_Missense_Mutation_p.K134T	NM_000240	NP_000231	P21397	AOFA_HUMAN	Homo sapiens monoamine oxidase A (MAOA), nuclear gene encoding mitochondrial protein, mRNA.	267					behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	primary amine oxidase activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)	TTTTAGTGCAAATACGTAATT	0.418000														53			27		0	0	1	0	0
NDUFA10	4705	broad.mit.edu	37	2	240922951	240922951	+	Missense_Mutation	SNP	A	T	T			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr2:240922951A>T	uc010fzc.2	-	10	1374	c.1273T>A	c.(1273-1275)Ttt>Att	p.F425I	NDUFA10_uc002vyn.3_Intron	NM_004544	NP_004535	O95299	NDUAA_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa (NDUFA10), nuclear gene encoding mitochondrial protein, mRNA.	0					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	AGGAACATAAAGGCTGTGGTG	0.453000														9			6		0	0	1	0	0
ZCCHC6	79670	broad.mit.edu	37	9	88940291	88940291	+	Missense_Mutation	SNP	G	C	C			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr9:88940291G>C	uc004aou.3	-	11	1885	c.1747C>G	c.(1747-1749)Cgg>Ggg	p.R583G	ZCCHC6_uc011ltf.2_Non-coding_Transcript|ZCCHC6_uc004aoq.3_Missense_Mutation_p.R583G|ZCCHC6_uc004aot.3_Missense_Mutation_p.R460G|ZCCHC6_uc004aor.3_Non-coding_Transcript|ZCCHC6_uc004aos.3_Non-coding_Transcript	NM_001185059	NP_078893	Q5VYS8	TUT7_HUMAN	Homo sapiens zinc finger, CCHC domain containing 6 (ZCCHC6), transcript variant 2, mRNA.	583	PAP-associated 1.				RNA 3'-end processing		RNA uridylyltransferase activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						TTCAATTCCCGAGATACCAAT	0.403000														17			10		0	0	1	0	0
DCLRE1A	9937	broad.mit.edu	37	10	115608965	115608965	+	Silent	SNP	A	G	G			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr10:115608965A>G	uc001law.2	-	1	2817	c.1899T>C	c.(1897-1899)cgT>cgC	p.R633R		NM_014881	NP_055696	Q6PJP8	DCR1A_HUMAN	Homo sapiens DNA cross-link repair 1A (DCLRE1A), mRNA.	633					cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		TCTTTTTTTGACGCTGTGACC	0.368000								Other identified genes with known or suspected DNA repair function						127			77		0	0	1	0	0
NSUN2	54888	broad.mit.edu	37	5	6616902	6616902	+	Missense_Mutation	SNP	G	T	T	rs138724893		TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr5:6616902G>T	uc003jdu.3	-	8	1340	c.959C>A	c.(958-960)aCg>aAg	p.T320K	NSUN2_uc003jdt.3_Missense_Mutation_p.T84K|NSUN2_uc011cmk.2_Missense_Mutation_p.T285K|NSUN2_uc003jdv.3_Missense_Mutation_p.T84K	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN	Homo sapiens NOP2/Sun domain family, member 2 (NSUN2), transcript variant 1, mRNA.	320						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding	p.T320M(2)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						TAGTGAACACGTGGAATACAC	0.468000														44			33		4.65686e-17	4.65686e-17	1	1	0
ARHGAP20	57569	broad.mit.edu	37	11	110454361	110454361	+	Missense_Mutation	SNP	C	G	G			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr11:110454361C>G	uc001pkz.1	-	13	1801	c.1516G>C	c.(1516-1518)Gca>Cca	p.A506P	ARHGAP20_uc001pky.1_Missense_Mutation_p.A483P|ARHGAP20_uc009yyb.1_Missense_Mutation_p.A470P|ARHGAP20_uc001pla.1_Missense_Mutation_p.A470P|ARHGAP20_uc001plb.2_Missense_Mutation_p.A49P	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Homo sapiens Rho GTPase activating protein 20 (ARHGAP20), mRNA.	506	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		AAATTAAATGCAGTCATCTGA	0.418000														4			3		0	0	1	0	0
GPR45	11250	broad.mit.edu	37	2	105858582	105858582	+	Silent	SNP	C	G	G			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr2:105858582C>G	uc002tco.1	+	0	383	c.267C>G	c.(265-267)ccC>ccG	p.P89P		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	Homo sapiens G protein-coupled receptor 45 (GPR45), mRNA.	89						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						GCTGCATGCCCTTCACCGCCG	0.627000														216			202		0	0	1	0	0
CAV2	858	broad.mit.edu	37	7	116140377	116140377	+	Missense_Mutation	SNP	T	A	A			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr7:116140377T>A	uc003vid.3	+	1	395	c.214T>A	c.(214-216)Tgc>Agc	p.C72S	CAV1_uc010lkc.2_Non-coding_Transcript|CAV1_uc003vhv.2_Intron|CAV1_uc003vhw.2_Intron|CAV1_uc003vhx.2_Intron|CAV1_uc010lkb.1_Intron|CAV1_uc003vhz.2_Non-coding_Transcript|CAV1_uc003via.2_Non-coding_Transcript|CAV1_uc003vib.2_Intron|CAV1_uc010lke.2_Intron|CAV1_uc010lkd.2_Intron|CAV2_uc003vie.3_Intron|CAV2_uc022akj.1_5'UTR	NM_001233	NP_001193676	P51636	CAV2_HUMAN	Homo sapiens caveolin 2 (CAV2), transcript variant 1, mRNA.	72					caveola assembly|endoplasmic reticulum organization|mitochondrion organization|negative regulation of endothelial cell proliferation|positive regulation of dopamine receptor signaling pathway|regulation of mitosis|skeletal muscle fiber development|vesicle docking|vesicle fusion	Golgi membrane|caveola|extrinsic to internal side of plasma membrane|integral to plasma membrane|membrane fraction|nucleus|perinuclear region of cytoplasm|transport vesicle	D1 dopamine receptor binding|protein homodimerization activity			large_intestine(1)|lung(1)|skin(1)	3	all_epithelial(6;1.53e-06)|Lung NSC(10;0.00592)|all_lung(10;0.00642)		STAD - Stomach adenocarcinoma(10;0.00878)			AGTGTGGATCTGCAGCCATGC	0.542000														226			78		0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29295647	29295649	+	In_Frame_Del	DEL	TCC	-	-			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr2:29295647_29295649delTCC	uc002rmt.2	-	0	1479_1481	c.1479_1481delGGA	c.(1477-1482)gaggaa>gaa	p.493_494EE>E		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	493					response to stimulus|visual perception	photoreceptor outer segment		p.E492K(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CATTTTGTCTTCCTCCTCCTCCT	0.542													---	789	---	---	8	---					
PTPN18	26469	broad.mit.edu	37	2	131129929	131129934	+	In_Frame_Del	DEL	GACGGG	-	-	rs112040677		TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr2:131129929_131129934delGACGGG	uc002trc.3	+	12	1214_1219	c.1113_1118delGACGGG	c.(1111-1119)cagacgggg>cag	p.TG378del	PTPN18_uc002trb.3_In_Frame_Del_p.TG271del|PTPN18_uc002tre.3_In_Frame_Del_p.TG29del	NM_014369	NP_055184	Q99952	PTN18_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 18 (brain-derived) (PTPN18), transcript variant 1, mRNA.	378				Missing (in Ref. 1; CAA56105).		cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity	p.T378_G379delTG(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					gtgggacgcagacggggacggggacg	0.777													---	11	---	---	5	---					
AQP12A	375318	broad.mit.edu	37	2	241631786	241631786	+	Frame_Shift_Del	DEL	G	-	-			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr2:241631786delG	uc002vzu.3	+	1	488	c.419delG	c.(418-420)agcfs	p.S140fs	AQP12A_uc002vzv.3_Non-coding_Transcript	NM_198998	NP_945349	Q8IXF9	AQ12A_HUMAN	Homo sapiens aquaporin 12A (AQP12A), mRNA.	140						integral to membrane	transporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		CAGAGCTGCAGCTCGGCCCTG	0.692													---	3	---	---	3	---					
PPARGC1B	133522	broad.mit.edu	37	5	149216400	149216402	+	In_Frame_Del	DEL	CAG	-	-			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr5:149216400_149216402delCAG	uc003lrc.3	+	7	2473_2475	c.2382_2384delCAG	c.(2380-2385)gacagc>gac	p.S799del	PPARGC1B_uc003lrb.2_In_Frame_Del_p.S799del|PPARGC1B_uc003lrd.3_In_Frame_Del_p.S760del|PPARGC1B_uc021yfr.1_In_Frame_Del_p.S735del|PPARGC1B_uc003lre.1_In_Frame_Del_p.S778del|PPARGC1B_uc003lrf.3_In_Frame_Del_p.S778del	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA.	799	Glu-rich.				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|RNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity	p.S795N(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TCTTTGAAGACAGCAGCAGCAGC	0.601													---	557	---	---	7	---					
URGCP	55665	broad.mit.edu	37	7	43916495	43916495	+	Frame_Shift_Del	DEL	C	-	-			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr7:43916495delC	uc003tiw.3	-	5	2624	c.2567delG	c.(2566-2568)ggcfs	p.G856fs	URGCP_uc022acg.1_Intron|URGCP_uc003tiu.3_Frame_Shift_Del_p.G813fs|URGCP_uc003tiv.3_Frame_Shift_Del_p.G781fs|URGCP_uc003tix.3_Frame_Shift_Del_p.G847fs|URGCP_uc003tiy.3_Frame_Shift_Del_p.G813fs|URGCP_uc003tiz.3_Frame_Shift_Del_p.G813fs|URGCP_uc011kbj.2_Frame_Shift_Del_p.G813fs	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	Homo sapiens upregulator of cell proliferation (URGCP), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	856					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GAAGCCGTCGCCCTGTTTCTC	0.637													---	132	---	---	39	---					
HRCT1	646962	broad.mit.edu	37	9	35906584	35906586	+	In_Frame_Del	DEL	CCA	-	-			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr9:35906584_35906586delCCA	uc003zyr.1	+	0	396_398	c.300_302delCCA	c.(298-303)ctccac>ctc	p.H105del	LOC158376_uc003zys.1_5'Flank	NM_001039792	NP_001034881	Q6UXD1	HRCT1_HUMAN	Homo sapiens histidine rich carboxyl terminus 1 (HRCT1), mRNA.	105	His-rich.					integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						ctcaccacctccaccaccaccac	0.660													---	46	---	---	7	---					
RELB	5971	broad.mit.edu	37	19	45515450	45515452	+	In_Frame_Del	DEL	CCG	-	-			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr19:45515450_45515452delCCG	uc021uvq.1	+	3	551_553	c.420_422delCCG	c.(418-423)ttccgc>ttc	p.R141del	RELB_uc021uvp.1_In_Frame_Del_p.R138del	NM_006509	NP_006500	Q01201	RELB_HUMAN	Homo sapiens v-rel reticuloendotheliosis viral oncogene homolog B (RELB), mRNA.	141	RHD.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		GCATGCGCTTCCGCTACGAGTGC	0.754													---	41	---	---	33	---					
AHCY	191	broad.mit.edu	37	20	32868894	32868914	+	In_Frame_Del	DEL	CTGGGCTTGCTTCTCAGTTAG	-	-			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr20:32868894_32868914delCTGGGCTTGCTTCTCAGTTAG	uc002xai.3	-	9	1364_1384	c.1225_1245delCTAACTGAGAAGCAAGCCCAG	c.(1225-1245)ctaactgagaagcaagcccagdel	p.LTEKQAQ409del	AHCY_uc002xaj.3_In_Frame_Del_p.LTEKQAQ381del	NM_000687	NP_001155238	P23526	SAHH_HUMAN	Homo sapiens adenosylhomocysteinase (AHCY), transcript variant 1, mRNA.	409					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TGCCCAGGTACTGGGCTTGCTTCTCAGTTAGCTTGGTCAAC	0.566													---	78	---	---	26	---					
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Translation_Start_Site	DEL	TCCTCGAGGCAGCC	-	-	rs78182391		TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	uc010njt.3	-	0						NM_018159	NP_060629	Q96G61	NUD11_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 11 (NUDT11), mRNA.							cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)			---	57	---	---	7	---					
APEX2	27301	broad.mit.edu	37	X	55033524	55033525	+	Frame_Shift_Ins	INS	-	A	A			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chrX:55033524_55033525insA	uc004dtz.3	+	5	1289_1290	c.1213_1214insA	c.(1213-1215)caafs	p.Q405fs	APEX2_uc011mom.2_Frame_Shift_Ins_p.Q234fs	NM_014481	NP_055296	Q9UBZ4	APEX2_HUMAN	Homo sapiens APEX nuclease (apurinic/apyrimidinic endonuclease) 2 (APEX2), nuclear gene encoding mitochondrial protein, mRNA.	405					DNA recombination|DNA repair|cell cycle	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						TAGCTGTCCCCAAGCCTCTCCT	0.584								Other BER factors					---	187	---	---	8	---					
