Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
TNRC6C	57690	broad.mit.edu	37	17	76047083	76047083	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:76047083C>T	ENST00000335749.4	+	3	2509	c.1940C>T	c.(1939-1941)aCa>aTa	p.T647I	TNRC6C_ENST00000301624.4_Missense_Mutation_p.T647I|TNRC6C_ENST00000544502.1_Missense_Mutation_p.T647I|TNRC6C_ENST00000588847.1_Missense_Mutation_p.T647I|TNRC6C_ENST00000588061.1_Missense_Mutation_p.T647I|TNRC6C_ENST00000541771.1_Missense_Mutation_p.T647I	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	647	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AGCACAAATACAAAGGCCAAT	0.502000													10	24					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77616680	77616680	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:77616680A>C	ENST00000521891.2	+	2	805	c.357A>C	c.(355-357)ttA>ttC	p.L119F	ZFHX4_ENST00000050961.6_Missense_Mutation_p.L119F|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.L119F|ZFHX4_ENST00000518282.1_Missense_Mutation_p.L119F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	119						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCAGCGAGTTAGAGGACAGTG	0.483000										HNSCC(33;0.089)			8	68					0	0	1	0	0
ZNF624	57547	broad.mit.edu	37	17	16527501	16527501	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16527501C>G	ENST00000311331.7	-	6	790	c.699G>C	c.(697-699)gaG>gaC	p.E233D		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		AATTTAAATTCTCTGTGAAAT	0.393000													47	43					0	0	1	0	0
FBXO25	26260	broad.mit.edu	37	8	385664	385664	+	Nonsense_Mutation	SNP	C	C	G	rs140242296	byFrequency	TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:385664C>G	ENST00000352684.2	+	4	554	c.137C>G	c.(136-138)tCa>tGa	p.S46*	FBXO25_ENST00000382824.1_Nonsense_Mutation_p.S46*|FBXO25_ENST00000350302.3_Nonsense_Mutation_p.S113*|FBXO25_ENST00000276326.5_Nonsense_Mutation_p.S113*	NM_012173.3	NP_036305.2	Q8TCJ0	FBX25_HUMAN	F-box protein 25	113	Interaction with beta-actin.					nucleus|SCF ubiquitin ligase complex	actin binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)		TTAGACTTCTCAAGTGCAATT	0.348000													12	44					0	0	1	0	0
XPO7	23039	broad.mit.edu	37	8	21840321	21840321	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:21840321G>A	ENST00000434536.1	+	11	1404	c.1302G>A	c.(1300-1302)ctG>ctA	p.L434L	XPO7_ENST00000252512.9_Silent_p.L425L|XPO7_ENST00000433566.4_Silent_p.L426L			Q9UIA9	XPO7_HUMAN	exportin 7	425				Missing (in Ref. 3; BAA34465).	mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		ACATCATACTGAGGTAAGGAA	0.507000													14	34					0	0	1	0	0
CTAG2	30848	broad.mit.edu	37	X	153880627	153880627	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chrX:153880627G>A	ENST00000247306.4	-	2	611	c.548C>T	c.(547-549)cCa>cTa	p.P183L	CTAG2_ENST00000369585.3_Intron	NM_020994.3	NP_066274.2	O75638	CTAG2_HUMAN	cancer/testis antigen 2	183	Poly-Pro.					centrosome				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGGCGGGCCTGGTGTACCAGG	0.607000													16	13					0	0	1	0	0
KCNJ11	3767	broad.mit.edu	37	11	17409306	17409306	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:17409306G>A	ENST00000339994.4	-	1	900	c.333C>T	c.(331-333)gtC>gtT	p.V111V	KCNJ11_ENST00000528731.1_Silent_p.V24V	NM_000525.3	NP_000516.3	B4DWI4	B4DWI4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	24						integral to membrane	ATP-activated inward rectifier potassium channel activity			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)		GGATGCTGGTGACACAGGGCT	0.622000													5	8					0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70406064	70406064	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:70406064C>G	ENST00000373644.4	+	4	3787	c.3578C>G	c.(3577-3579)tCg>tGg	p.S1193W		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1193					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TGGATAGCATCGAAATTTCAA	0.373000													15	66					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32074145	32074145	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr5:32074145G>C	ENST00000438447.1	+	18	3321	c.2933G>C	c.(2932-2934)aGa>aCa	p.R978T	PDZD2_ENST00000282493.3_Missense_Mutation_p.R978T			O15018	PDZD2_HUMAN	PDZ domain containing 2	978					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GAGTTTGACAGAGAAGGGGAC	0.607000													7	18					0	0	1	0	0
DDX21	9188	broad.mit.edu	37	10	70738718	70738718	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:70738718C>G	ENST00000354185.4	+	13	2121	c.2023C>G	c.(2023-2025)Ctc>Gtc	p.L675V		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	675						nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						AATGGTTTTTCTCAAAGGAAA	0.458000													31	46					0	0	1	0	0
MROH8	140699	broad.mit.edu	37	20	35731106	35731106	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr20:35731106C>T	ENST00000400441.3	-	24	3112	c.3113G>A	c.(3112-3114)gGc>gAc	p.G1038D	MROH8_ENST00000217333.8_Missense_Mutation_p.G867D|MROH8_ENST00000441008.2_3'UTR|MROH8_ENST00000466091.1_5'UTR					maestro heat-like repeat family member 8																		AGAGGACCTGCCCATGAGCTT	0.512000													47	202					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84560127	84560127	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr15:84560127C>A	ENST00000286744.5	+	12	1482	c.1258C>A	c.(1258-1260)Cct>Act	p.P420T	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.P420T	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	420	TSP type-1 2.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCAACCTCTTCCTCGGTGAGT	0.333000													15	55					2.32078e-09	2.47329e-09	1	1	0
ALPK1	80216	broad.mit.edu	37	4	113352240	113352240	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr4:113352240C>G	ENST00000458497.1	+	11	1816	c.1537C>G	c.(1537-1539)Caa>Gaa	p.Q513E	ALPK1_ENST00000177648.9_Missense_Mutation_p.Q513E|ALPK1_ENST00000504176.2_Missense_Mutation_p.Q435E	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	513							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		GCCACATTGTCAAAGAGACAC	0.408000													7	35					0	0	1	0	0
C11orf35	256329	broad.mit.edu	37	11	558000	558000	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:558000G>A	ENST00000329451.3	-	5	501	c.439C>T	c.(439-441)Cgc>Tgc	p.R147C	RP11-496I9.1_ENST00000527620.1_RNA	NM_173573.2	NP_775844.2	Q8IXW0	CK035_HUMAN	chromosome 11 open reading frame 35	147										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGAGCGTGCGGGTGGTCTGC	0.672000													10	11					0	0	1	0	0
ZNF624	57547	broad.mit.edu	37	17	16526354	16526354	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16526354C>T	ENST00000311331.7	-	6	1937	c.1846G>A	c.(1846-1848)Gac>Aac	p.D616N		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	616					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CTCTCGCAGTCAGTACATTTA	0.383000													85	74					0	0	1	0	0
PHF20L1	51105	broad.mit.edu	37	8	133844494	133844494	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:133844494G>T	ENST00000395386.2	+	15	2058	c.1759G>T	c.(1759-1761)Gaa>Taa	p.E587*	PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395390.2_Nonsense_Mutation_p.E562*	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	587							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TTCAGACTATGAAGACAGTTC	0.368000													61	63					4.10029e-35	4.51153e-35	1	1	0
PFDN6	10471	broad.mit.edu	37	6	33257970	33257970	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:33257970G>A	ENST00000463584.1	+	2	166	c.84G>A	c.(82-84)tcG>tcA	p.S28S	PFDN6_ENST00000395131.1_Silent_p.S28S|PFDN6_ENST00000374607.1_Silent_p.S28S|PFDN6_ENST00000374606.5_Silent_p.S28S|PFDN6_ENST00000374610.2_Silent_p.S28S			O15212	PFD6_HUMAN	prefoldin subunit 6	28					'de novo' posttranslational protein folding|chaperone-mediated protein complex assembly	prefoldin complex	chaperone binding|unfolded protein binding			kidney(1)|large_intestine(1)	2						AATCCATGTCGGGGAGGCAGA	0.468000													9	27					0	0	1	0	0
SHISA3	152573	broad.mit.edu	37	4	42403228	42403228	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr4:42403228C>T	ENST00000319234.4	+	2	695	c.477C>T	c.(475-477)tcC>tcT	p.S159S		NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3	159					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						GGGCACCCTCCCGGCAGTCCA	0.672000													28	39					0	0	1	0	0
SULT1C2	6819	broad.mit.edu	37	2	108910720	108910720	+	Missense_Mutation	SNP	G	G	C	rs144954759		TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:108910720G>C	ENST00000326853.5	+	3	640	c.187G>C	c.(187-189)Gaa>Caa	p.E63Q	SULT1C2_ENST00000409880.1_Missense_Mutation_p.E63Q|SULT1C2_ENST00000437390.2_Missense_Mutation_p.E63Q|SULT1C2_ENST00000251481.6_Missense_Mutation_p.E63Q	NM_176825.2	NP_789795.1	O00338	ST1C2_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	63					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						GGATATGATTGAACAGAATGG	0.517000													44	37					0	0	1	0	0
CDCA7L	55536	broad.mit.edu	37	7	21946221	21946221	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:21946221C>A	ENST00000406877.3	-	5	997	c.718G>T	c.(718-720)Gat>Tat	p.D240Y	CDCA7L_ENST00000356195.5_Missense_Mutation_p.D206Y|CDCA7L_ENST00000373934.4_Missense_Mutation_p.D194Y|CDCA7L_ENST00000465490.1_5'UTR	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	240					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						GGGAAGAAATCTGGCATCGAG	0.418000													12	75					7.03913e-09	7.48033e-09	1	1	0
ZNF713	349075	broad.mit.edu	37	7	55991305	55991305	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:55991305C>G	ENST00000429591.2	+	3	219	c.181C>G	c.(181-183)Cag>Gag	p.Q61E	MRPS17_ENST00000426595.1_Missense_Mutation_p.Q61E|ZNF713_ENST00000482436.1_3'UTR	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	61	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			aatagggtatcagctttgtaa	0.453000													3	9					0	0	1	0	0
TMCO6	55374	broad.mit.edu	37	5	140024595	140024595	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr5:140024595C>G	ENST00000394671.3	+	12	1495	c.1394C>G	c.(1393-1395)tCa>tGa	p.S465*	TMCO6_ENST00000252100.6_Nonsense_Mutation_p.S471*|TMCO6_ENST00000537378.1_Nonsense_Mutation_p.S225*|NDUFA2_ENST00000510680.1_Intron	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	465					protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCAGCAGTCAGGGCTGCAA	0.537000													22	21					0	0	1	0	0
SEC13	6396	broad.mit.edu	37	3	10354378	10354378	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:10354378G>A	ENST00000397117.1	-	4	750	c.159C>T	c.(157-159)caC>caT	p.H53H	SEC13_ENST00000350697.3_Silent_p.H67H|SEC13_ENST00000337354.4_Silent_p.H70H|SEC13_ENST00000383801.2_Silent_p.H113H|SEC13_ENST00000397109.3_Silent_p.H53H			P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)	67					COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						CGTACATGGGGTGAGCCCAGG	0.562000													22	46					0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40578084	40578084	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr21:40578084G>C	ENST00000342449.3	-	37	4392	c.4314C>G	c.(4312-4314)ttC>ttG	p.F1438L	BRWD1_ENST00000380800.3_Missense_Mutation_p.F1438L|BRWD1_ENST00000333229.2_Missense_Mutation_p.F1438L	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GCCGTTGCTTGAACCTCTGGC	0.318000													38	59					0	0	1	0	0
GRB14	2888	broad.mit.edu	37	2	165365357	165365357	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:165365357C>T	ENST00000263915.3	-	7	1360	c.822G>A	c.(820-822)ccG>ccA	p.P274P	GRB14_ENST00000543549.1_Silent_p.P187P	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	274	PH.				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						GCAAATGCCGCGGTTCCTTAA	0.328000													5	61					0	0	1	0	0
DBF4	10926	broad.mit.edu	37	7	87537236	87537236	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:87537236G>A	ENST00000265728.1	+	12	2287	c.1783G>A	c.(1783-1785)Gaa>Aaa	p.E595K		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 homolog (S. cerevisiae)	595					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding	p.E595K(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				ACCAAATGCTGAATTTGATAA	0.308000													16	27					0	0	1	0	0
HIST1H2AI	8329	broad.mit.edu	37	6	27776084	27776084	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:27776084C>T	ENST00000358739.3	+	1	186	c.97C>T	c.(97-99)Cgc>Tgc	p.R33C		NM_003509.2	NP_003500.1			histone cluster 1, H2ai											lung(3)	3						CCGAGTGCATCGCCTGCTCCG	0.667000													11	39					0	0	1	0	0
TRMT13	54482	broad.mit.edu	37	1	100613733	100613733	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:100613733G>C	ENST00000370141.2	+	10	1107	c.1101G>C	c.(1099-1101)atG>atC	p.M367I		NM_019083.2	NP_061956.2			tRNA methyltransferase 13 homolog (S. cerevisiae)																		TCCAGCGAATGAGTAGTTGGG	0.433000													13	29					0	0	1	0	0
C12orf55	144535	broad.mit.edu	37	12	97051869	97051869	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:97051869C>T	ENST00000524981.4	+	37	5333	c.5310C>T	c.(5308-5310)ttC>ttT	p.F1770F						chromosome 12 open reading frame 55																		CCATTCAGTTCAATACAGTTT	0.303000													9	23					0	0	1	0	0
EPHB3	2049	broad.mit.edu	37	3	184299313	184299313	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:184299313G>T	ENST00000330394.2	+	16	3352	c.2900G>T	c.(2899-2901)cGt>cTt	p.R967L	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	967	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GACCTGCTCCGTATTGGGGTC	0.607000													10	10					1.08611e-07	1.1444e-07	1	1	0
MYPN	84665	broad.mit.edu	37	10	69925571	69925571	+	Silent	SNP	G	G	C			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:69925571G>C	ENST00000358913.5	+	9	2084	c.1596G>C	c.(1594-1596)gtG>gtC	p.V532V	MYPN_ENST00000354393.2_Silent_p.V257V|MYPN_ENST00000540630.1_Silent_p.V532V	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	532						nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						AGCTGCACGTGAGAGGTAAGG	0.428000													18	43					0	0	1	0	0
TFAP2A	7020	broad.mit.edu	37	6	10410427	10410427	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:10410427G>A	ENST00000379613.3	-	2	449	c.193C>T	c.(193-195)Cag>Tag	p.Q65*	TFAP2A_ENST00000379604.2_Nonsense_Mutation_p.Q63*|TFAP2A_ENST00000482890.1_Nonsense_Mutation_p.Q63*|TFAP2A_ENST00000319516.4_Nonsense_Mutation_p.Q59*|TFAP2A_ENST00000379608.3_Nonsense_Mutation_p.Q57*|TFAP2A-AS1_ENST00000420777.1_RNA|TFAP2A_ENST00000497266.1_Intron			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	63	Gln/Pro-rich (transactivation domain).				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				TAGATAGGCTGGTAGGGTGGG	0.657000													14	22					0	0	1	0	0
SCTR	6344	broad.mit.edu	37	2	120204401	120204401	+	Silent	SNP	G	G	A	rs140245245		TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:120204401G>A	ENST00000019103.5	-	11	1341	c.1074C>T	c.(1072-1074)ttC>ttT	p.F358F		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	358					digestion|excretion	integral to plasma membrane	secretin receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	GGGAGAAGGCGAAGACGATGT	0.572000													5	46					0	0	1	0	0
VIPR2	7434	broad.mit.edu	37	7	158824561	158824561	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:158824561C>T	ENST00000262178.2	-	12	1287		c.e12-1		VIPR2_ENST00000402066.1_Splice_Site|VIPR2_ENST00000377633.3_Splice_Site	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2						cell-cell signaling	integral to plasma membrane				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		CCACCAGGCCCTGCAATGAGA	0.597000													16	32					0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86940646	86940646	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr15:86940646C>A	ENST00000441037.2	+	17	2381	c.2286C>A	c.(2284-2286)agC>agA	p.S762R	AGBL1_ENST00000389298.3_Missense_Mutation_p.S493R|AGBL1_ENST00000421325.2_Missense_Mutation_p.S762R	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	762					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CAGGAGAGAGCAATGCCAGTT	0.453000													8	34					0.000274275	0.000279521	1	1	0
DST	667	broad.mit.edu	37	6	56474031	56474031	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:56474031C>G	ENST00000370754.5	-	39	5295	c.5296G>C	c.(5296-5298)Gag>Cag	p.E1766Q	DST_ENST00000446842.2_Missense_Mutation_p.E1262Q|DST_ENST00000361203.3_Missense_Mutation_p.E1588Q|DST_ENST00000370769.4_Missense_Mutation_p.E1588Q|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Missense_Mutation_p.E1588Q|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron			Q03001	DYST_HUMAN	dystonin	1588					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGCTGTGTCTCAAGCAACCTA	0.393000													47	64					0	0	1	0	0
DNASE2	1777	broad.mit.edu	37	19	12991823	12991823	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:12991823C>T	ENST00000222219.3	-	2	322	c.230G>A	c.(229-231)cGa>cAa	p.R77Q	CTD-2265O21.7_ENST00000592400.1_RNA|DNASE2_ENST00000538460.1_Missense_Mutation_p.R77Q	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal	77					apoptosis	lysosome	deoxyribonuclease II activity|DNA binding|protein binding			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						CTGCAGGCTTCGGCCCACGGC	0.677000													8	22					0	0	1	0	0
ELAVL4	1996	broad.mit.edu	37	1	50642818	50642818	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:50642818C>T	ENST00000371824.1	+	3	565	c.308C>T	c.(307-309)gCc>gTc	p.A103V	ELAVL4_ENST00000357083.4_Missense_Mutation_p.A120V|ELAVL4_ENST00000371819.1_Missense_Mutation_p.A108V|ELAVL4_ENST00000448907.2_Missense_Mutation_p.A106V|ELAVL4_ENST00000371827.1_Missense_Mutation_p.A103V|ELAVL4_ENST00000371823.4_Missense_Mutation_p.A103V|ELAVL4_ENST00000371821.1_Missense_Mutation_p.A108V|ELAVL4_ENST00000492299.1_3'UTR			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	103	RRM 1.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						GCAGAGAAAGCCATCAACACT	0.408000													12	33					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132502160	132502160	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:132502160C>T	ENST00000333577.4	+	21	4221	c.4112C>T	c.(4111-4113)cCt>cTt	p.P1371L	EP400_ENST00000389561.2_Missense_Mutation_p.P1335L|EP400_ENST00000330386.6_Missense_Mutation_p.P1335L|EP400_ENST00000389562.2_Missense_Mutation_p.P1334L|EP400_ENST00000332482.4_Missense_Mutation_p.P1298L			Q96L91	EP400_HUMAN	E1A binding protein p400	1371					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)		TGCAACCACCCTGGGCTCGTC	0.607000													24	30					0	0	1	0	0
GALNT6	11226	broad.mit.edu	37	12	51757940	51757940	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:51757940C>T	ENST00000543196.2	-	5	1219	c.1014G>A	c.(1012-1014)gaG>gaA	p.E338E	GALNT6_ENST00000356317.3_Silent_p.E338E			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	338					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GCCTCTGCTTCTCATGTGGAG	0.587000													10	32					0	0	1	0	0
HTRA3	94031	broad.mit.edu	37	4	8284261	8284261	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr4:8284261G>A	ENST00000307358.2	+	2	687	c.483G>A	c.(481-483)ctG>ctA	p.L161L	HTRA3_ENST00000382512.3_Silent_p.L161L	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	161					proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						AGCTCTTCCTGAGGTGGGTGA	0.617000													7	11					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19479909	19479909	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:19479909G>A	ENST00000375267.2	-	46	6721	c.6718C>T	c.(6718-6720)Cgc>Tgc	p.R2240C	UBR4_ENST00000375217.2_Missense_Mutation_p.R2240C|UBR4_ENST00000375226.2_Missense_Mutation_p.R2240C|UBR4_ENST00000375254.3_Missense_Mutation_p.R2240C			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2240					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ATGTAAATGCGCAGGCTGCCA	0.547000													3	43					0	0	1	0	0
C1orf177	163747	broad.mit.edu	37	1	55277826	55277826	+	Silent	SNP	G	G	C			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:55277826G>C	ENST00000358193.3	+	6	780	c.726G>C	c.(724-726)cgG>cgC	p.R242R	C1orf177_ENST00000371273.3_Silent_p.R242R	NM_152607.2	NP_689820	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	242										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						CTGGTGATCGGAGCAAGCCAC	0.577000													6	16					0	0	1	0	0
KDM2A	22992	broad.mit.edu	37	11	66888787	66888787	+	Translation_Start_Site	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:66888787G>A	ENST00000529006.2	+	0	446				KDM2A_ENST00000398645.2_De_novo_Start_InFrame	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						AAGAGTGAGAGATGGAACCCG	0.413000													24	14					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86468800	86468800	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:86468800C>G	ENST00000361669.2	+	4	3069	c.1970C>G	c.(1969-1971)tCa>tGa	p.S657*	GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Nonsense_Mutation_p.S249*|GRM3_ENST00000536043.1_Nonsense_Mutation_p.S529*|GRM3_ENST00000439827.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	657					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	ATCTGTTACTCAGCCCTGCTG	0.522000													37	67					0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139368716	139368716	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr9:139368716G>T	ENST00000313050.7	-	1	3425	c.3352C>A	c.(3352-3354)Cag>Aag	p.Q1118K	SEC16A_ENST00000431893.2_Missense_Mutation_p.Q940K|SEC16A_ENST00000371706.3_Missense_Mutation_p.Q940K|SEC16A_ENST00000290037.6_Missense_Mutation_p.Q940K	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	940	Required for endoplasmic reticulum localization.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CTAGAGGACTGAGGAGGCCGA	0.667000													3	2					1	1	1	1	0
ZNF624	57547	broad.mit.edu	37	17	16526945	16526945	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16526945C>G	ENST00000311331.7	-	6	1346	c.1255G>C	c.(1255-1257)Gat>Cat	p.D419H		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	419					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CCACAATCATCACATTTGTAG	0.403000													25	51					0	0	1	0	0
ZBTB5	9925	broad.mit.edu	37	9	37441201	37441201	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr9:37441201G>C	ENST00000307750.4	-	2	1536	c.1348C>G	c.(1348-1350)Cca>Gca	p.P450A		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	450					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		CCAGCCTCTGGACTCAACAAA	0.517000													10	16					0	0	1	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55024415	55024415	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr18:55024415G>A	ENST00000324000.3	+	3	2608	c.574G>A	c.(574-576)Gcc>Acc	p.A192T		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	192					glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		TTGCAATTTCGCCCCTACGGA	0.403000													25	39					0	0	1	0	0
PRKD2	25865	broad.mit.edu	37	19	47178369	47178369	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:47178369T>C	ENST00000433867.1	-	18	2822	c.2345A>G	c.(2344-2346)gAc>gGc	p.D782G	PRKD2_ENST00000595515.1_Missense_Mutation_p.D792G|DACT3-AS1_ENST00000525008.1_RNA|PRKD2_ENST00000600194.1_Missense_Mutation_p.D625G|PRKD2_ENST00000601806.1_Missense_Mutation_p.D625G|PRKD2_ENST00000291281.4_Missense_Mutation_p.D782G	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349|NP_001073350|NP_057541	Q9BZL6	KPCD2_HUMAN	protein kinase D2	782	Protein kinase.				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GTTGATGAGGTCAATGGCTGC	0.567000													11	5					0	0	1	0	0
RABEP2	79874	broad.mit.edu	37	16	28925598	28925598	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr16:28925598G>A	ENST00000358201.4	-	5	1441	c.853C>T	c.(853-855)Cag>Tag	p.Q285*	RABEP2_ENST00000357573.6_Nonsense_Mutation_p.Q285*|RABEP2_ENST00000544477.1_Nonsense_Mutation_p.Q214*	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	285					endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						GGGACGAGCTGGTAGCCAGGA	0.652000													9	15					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179433265	179433265	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:179433265C>T	ENST00000589042.1	-	326	77818	c.77594G>A	c.(77593-77595)gGt>gAt	p.G25865D	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G16992D|TTN_ENST00000591111.1_Missense_Mutation_p.G24224D|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G23297D|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G16925D|TTN_ENST00000460472.2_Missense_Mutation_p.G16800D|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24224	Fibronectin type-III 88.						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)			ATATTGTCCACCATCATCCTT	0.413000													6	58					0	0	1	0	0
HCFC1R1	54985	broad.mit.edu	37	16	3073334	3073334	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr16:3073334C>G	ENST00000248089.3	-	3	485	c.181G>C	c.(181-183)Gag>Cag	p.E61Q	HCFC1R1_ENST00000574151.1_Missense_Mutation_p.E42Q|HCFC1R1_ENST00000574980.1_Missense_Mutation_p.E61Q|HCFC1R1_ENST00000354679.3_Missense_Mutation_p.E59Q|HCFC1R1_ENST00000396916.1_Missense_Mutation_p.E61Q|HCFC1R1_ENST00000572355.1_Missense_Mutation_p.E21Q	NM_017885.2	NP_060355.1	Q9NWW0	HPIP_HUMAN	host cell factor C1 regulator 1 (XPO1 dependent)	61						cytoplasm|nucleus				breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3						ATGTTCTCCTCAGACAGAAAC	0.617000													7	42					0	0	1	0	0
PNLIPRP3	119548	broad.mit.edu	37	10	118236220	118236220	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:118236220T>C	ENST00000369230.3	+	11	1375	c.1229T>C	c.(1228-1230)gTt>gCt	p.V410A		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	410	PLAT.				lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		GATGTTAACGTTGGAAACATT	0.358000													21	36					0	0	1	0	0
LAMC1	3915	broad.mit.edu	37	1	183096378	183096378	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:183096378G>A	ENST00000258341.4	+	17	3219	c.2962G>A	c.(2962-2964)Gag>Aag	p.E988K	LAMC1_ENST00000466964.1_3'UTR	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	988	Laminin EGF-like 11.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGTCATCCTGAGGGATCTCT	0.393000													11	55					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18022918	18022918	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:18022918C>A	ENST00000205890.5	+	2	1142	c.804C>A	c.(802-804)agC>agA	p.S268R		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	268	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GCCCCTACAGCCCGGCCTGGC	0.642000													39	15					4.32679e-17	4.74675e-17	1	1	0
HTR3A	3359	broad.mit.edu	37	11	113860344	113860344	+	Silent	SNP	G	G	C			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:113860344G>C	ENST00000504030.2	+	9	1741	c.1296G>C	c.(1294-1296)cgG>cgC	p.R432R	HTR3A_ENST00000535865.1_Silent_p.R176R|HTR3A_ENST00000299961.5_Silent_p.R417R|HTR3A_ENST00000506841.2_Silent_p.R464R|HTR3A_ENST00000375498.2_Silent_p.R438R|HTR3A_ENST00000355556.2_Silent_p.R470R			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	432	HA-stretch.				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	TGGAAAAGCGGGATGAGATCC	0.637000													6	41					0	0	1	0	0
WDHD1	11169	broad.mit.edu	37	14	55457948	55457948	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr14:55457948G>C	ENST00000360586.3	-	12	1389	c.1324C>G	c.(1324-1326)Ctc>Gtc	p.L442V	WDHD1_ENST00000359167.4_Missense_Mutation_p.I21M|WDHD1_ENST00000421192.1_Missense_Mutation_p.L319V|WDHD1_ENST00000420358.2_Missense_Mutation_p.L319V	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	442						cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						CTGTGAGTGAGATGCAACGGT	0.388000													6	15					0	0	1	0	0
C9orf64	84267	broad.mit.edu	37	9	86571141	86571141	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr9:86571141C>G	ENST00000376344.3	-	1	491	c.275G>C	c.(274-276)aGa>aCa	p.R92T	C9orf64_ENST00000314700.1_5'UTR|C9orf64_ENST00000376340.2_5'UTR	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN	chromosome 9 open reading frame 64	92										central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TGTTTTCCCTCTGTACCTCAC	0.592000													16	19					0	0	1	0	0
SPIDR	23514	broad.mit.edu	37	8	48626144	48626144	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:48626144C>A	ENST00000297423.4	+	16	2666	c.2282C>A	c.(2281-2283)cCg>cAg	p.P761Q	SPIDR_ENST00000517693.1_Missense_Mutation_p.P236Q|SPIDR_ENST00000541342.1_Missense_Mutation_p.P691Q|SPIDR_ENST00000518074.1_Missense_Mutation_p.P701Q|SPIDR_ENST00000521214.1_3'UTR	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1			scaffolding protein involved in DNA repair																		CTGCCTGGCCCGGTGATGCTC	0.527000													15	57					4.93089e-13	5.34658e-13	1	1	0
TEK	7010	broad.mit.edu	37	9	27169599	27169599	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr9:27169599C>T	ENST00000380036.4	+	4	1042	c.600C>T	c.(598-600)acC>acT	p.T200T	TEK_ENST00000406359.4_Silent_p.T200T|TEK_ENST00000519097.1_Silent_p.T96T	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	200					angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		ACCTCTTCACCTCGGCCTTCA	0.483000													16	59					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11058280	11058280	+	RNA	SNP	C	C	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr21:11058280C>A	ENST00000470054.1	-	0	367									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTTCTCTTCACAGCATTTGAT	0.403000													5	111					0.000602214	0.000610397	1	1	0
STK33	65975	broad.mit.edu	37	11	8457652	8457652	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:8457652C>T	ENST00000447869.1	-	9	1900	c.982G>A	c.(982-984)Gaa>Aaa	p.E328K	STK33_ENST00000473980.1_5'UTR|STK33_ENST00000396672.1_Missense_Mutation_p.E328K|STK33_ENST00000315204.1_Missense_Mutation_p.E328K|STK33_ENST00000358872.3_Missense_Mutation_p.E141K|STK33_ENST00000396673.1_Missense_Mutation_p.E328K|STK33_ENST00000534493.1_Missense_Mutation_p.E287K			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	328	Protein kinase.					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		AGCTTCTCTTCTGAGCTTGCC	0.313000													16	44					0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156946911	156946911	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr5:156946911G>C	ENST00000257527.4	-	6	614	c.536C>G	c.(535-537)tCc>tGc	p.S179C	ADAM19_ENST00000517905.1_Missense_Mutation_p.S179C|ADAM19_ENST00000394020.1_Missense_Mutation_p.S181C|ADAM19_ENST00000430702.2_5'UTR	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	179					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGTGGGCTTGGAGTGCTCGAA	0.552000													15	55					0	0	1	0	0
BMP1	649	broad.mit.edu	37	8	22035399	22035399	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:22035399G>A	ENST00000306385.5	+	6	1435	c.765G>A	c.(763-765)caG>caA	p.Q255Q	BMP1_ENST00000306349.8_Silent_p.Q255Q|BMP1_ENST00000397814.3_Silent_p.Q255Q|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397816.3_Silent_p.Q255Q	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	255	Metalloprotease.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		TGGAGCCTCAGGAGGTGGAGT	0.592000													13	44					0	0	1	0	0
KCNU1	157855	broad.mit.edu	37	8	36644882	36644882	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:36644882G>A	ENST00000399881.3	+	2	291	c.254G>A	c.(253-255)gGa>gAa	p.G85E		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	85						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CACTTCCAGGGACAATTTCGT	0.423000													4	18					0	0	1	0	0
PLCG1	5335	broad.mit.edu	37	20	39797452	39797452	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr20:39797452G>A	ENST00000373272.2	+	21	2830	c.2425G>A	c.(2425-2427)Gag>Aag	p.E809K	PLCG1_ENST00000244007.3_Missense_Mutation_p.E809K|PLCG1_ENST00000373271.1_Missense_Mutation_p.E809K	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	809	SH3.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GAGGGAGGACGAGCTGACCTT	0.577000													13	8					0	0	1	0	0
PEX6	5190	broad.mit.edu	37	6	42937459	42937459	+	Silent	SNP	C	C	G	rs61753222		TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:42937459C>G	ENST00000304611.8	-	5	1383	c.1314G>C	c.(1312-1314)ctG>ctC	p.L438L	PEX6_ENST00000244546.4_Silent_p.L438L	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	438					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			CCAAGGCCTCCAGGCCTGGAG	0.552000													4	28					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47894544	47894544	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:47894544G>C	ENST00000289672.2	-	30	4845	c.4795C>G	c.(4795-4797)Cta>Gta	p.L1599V		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1599					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TCTATCTGTAGAGATTCCTGG	0.398000													25	61					0	0	1	0	0
ZNF624	57547	broad.mit.edu	37	17	16526600	16526600	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16526600C>T	ENST00000311331.7	-	6	1691	c.1600G>A	c.(1600-1602)Ggg>Agg	p.G534R		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	534					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		AATGCTTTCCCACATTCATTA	0.383000													45	66					0	0	1	0	0
DUSP15	128853	broad.mit.edu	37	20	30436315	30436315	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr20:30436315G>A	ENST00000278979.3	-	10	856	c.780C>T	c.(778-780)acC>acT	p.T260T				Q9H1R2	DUS15_HUMAN	dual specificity phosphatase 15	260						cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CTGGGCGCTCGGTTGAGGCAC	0.632000													5	15					0	0	1	0	0
ZNF624	57547	broad.mit.edu	37	17	16526391	16526391	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16526391C>G	ENST00000311331.7	-	6	1900	c.1809G>C	c.(1807-1809)caG>caC	p.Q603H		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	603					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TGTGAATTCTCTGATGTACAG	0.378000													72	71					0	0	1	0	0
HAUS8	93323	broad.mit.edu	37	19	17166705	17166705	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:17166705G>A	ENST00000593360.1	-	8	2588	c.570C>T	c.(568-570)tcC>tcT	p.S190S	HAUS8_ENST00000253669.5_Silent_p.S251S|HAUS8_ENST00000448593.2_Silent_p.S250S			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	251					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						CCAGGTGGATGGACCTCACGG	0.642000													11	24					0	0	1	0	0
ZNF500	26048	broad.mit.edu	37	16	4802759	4802759	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr16:4802759T>C	ENST00000219478.6	-	6	1360	c.1061A>G	c.(1060-1062)aAg>aGg	p.K354R	ZNF500_ENST00000545009.1_Missense_Mutation_p.K354R|ZNF500_ENST00000591026.1_5'UTR			O60304	ZN500_HUMAN	zinc finger protein 500	354					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						GACTAGGCACTTGTAAGGCCG	0.622000													18	24					0	0	1	0	0
ROCK1	6093	broad.mit.edu	37	18	18622100	18622100	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr18:18622100G>C	ENST00000399799.2	-	8	1857	c.917C>G	c.(916-918)tCa>tGa	p.S306*		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1		Protein kinase.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TGCTTCTTTTGATATGTCATT	0.333000													8	44					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131346653	131346653	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr9:131346653C>T	ENST00000358161.5	+	17	2399	c.2286C>T	c.(2284-2286)ctC>ctT	p.L762L	SPTAN1_ENST00000372731.4_Silent_p.L762L|SPTAN1_ENST00000372739.3_Silent_p.L762L			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	762					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AGGAAGCCCTCGTGGCTCGCT	0.547000													13	9					0	0	1	0	0
ZNF721	170960	broad.mit.edu	37	4	437033	437033	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr4:437033T>G	ENST00000338977.5	-	2	1235	c.1187A>C	c.(1186-1188)aAg>aCg	p.K396T	ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Missense_Mutation_p.K408T|ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						GTGAATTCTCTTATGTGCAGT	0.393000													7	37					0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22383192	22383192	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr15:22383192C>T	ENST00000328795.4	+	1	811	c.720C>T	c.(718-720)tgC>tgT	p.C240C	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TGTCCACGTGCACCACTCGTG	0.493000													10	80					0	0	1	0	0
AGAP10	728127	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	T	C			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:47207813T>C	ENST00000355232.3	-	5	3482	c.470A>G	c.(469-471)cAt>cGt	p.H157R	RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000413193.2_Splice_Site_p.H228R|AGAP10_ENST00000452145.2_Splice_Site_p.H132R					ArfGAP with GTPase domain, ankyrin repeat and PH domain 10									p.H228R(20)		endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						TTTACTTACATGGTTTGTACA	0.294000													7	35					0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	75017934	75017934	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr14:75017934C>T	ENST00000261978.4	-	7	1905	c.1519G>A	c.(1519-1521)Gtg>Atg	p.V507M	LTBP2_ENST00000556690.1_Missense_Mutation_p.V507M|LTBP2_ENST00000557425.1_5'UTR	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	507					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CTGGTCTCCACGCTGTTCTCC	0.682000													5	8					0	0	1	0	0
CNTN2	6900	broad.mit.edu	37	1	205042279	205042279	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:205042279C>T	ENST00000331830.4	+	22	3212	c.2928C>T	c.(2926-2928)gaC>gaT	p.D976D		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	976	Fibronectin type-III 4.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TGCCTGAAGACATTGGCCATG	0.567000													10	19					0	0	1	0	0
OR52N4	390072	broad.mit.edu	37	11	5776753	5776753	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:5776753C>G	ENST00000317254.3	+	1	831	c.783C>G	c.(781-783)ttC>ttG	p.F261L	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		TCTTCTCCTTCTTTTCCCACC	0.478000													8	35					0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10720282	10720282	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:10720282G>A	ENST00000377022.3	-	6	1134	c.817C>T	c.(817-819)Ctg>Ttg	p.L273L	CASZ1_ENST00000344008.5_Silent_p.L273L	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	273				L -> P (in Ref. 2; ABB29845).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		AGGCCGGGCAGGGTGCCCACC	0.687000													11	16					0	0	1	0	0
C17orf47	284083	broad.mit.edu	37	17	56620303	56620303	+	Silent	SNP	A	A	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:56620303A>T	ENST00000321691.3	-	1	1426	c.1245T>A	c.(1243-1245)ccT>ccA	p.P415P	RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	415										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTAAGGACCGAGGAGGCAAGG	0.537000													13	64					0	0	1	0	0
CXXC1	30827	broad.mit.edu	37	18	47810445	47810445	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr18:47810445C>T	ENST00000285106.6	-	10	1946	c.1232G>A	c.(1231-1233)cGc>cAc	p.R411H	CXXC1_ENST00000589940.1_Missense_Mutation_p.R411H|CXXC1_ENST00000412036.2_Missense_Mutation_p.R415H	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	411					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						CTGCTGGATGCGCTGGGGGAG	0.562000													3	47					0	0	1	0	0
TAGLN3	29114	broad.mit.edu	37	3	111719691	111719691	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:111719691A>G	ENST00000393917.2	+	3	805	c.253A>G	c.(253-255)Atg>Gtg	p.M85V	TAGLN3_ENST00000455401.2_Missense_Mutation_p.M85V|TAGLN3_ENST00000273368.4_Missense_Mutation_p.M85V|TAGLN3_ENST00000478951.1_Missense_Mutation_p.M85V|TAGLN3_ENST00000486460.1_Start_Codon_SNP_p.M1V	NM_013259.2	NP_037391.2	Q9UI15	TAGL3_HUMAN	transgelin 3	85	CH.				central nervous system development|muscle organ development					endometrium(2)|lung(5)|urinary_tract(1)	8						AGAGTCAAAGATGGCTTTTAA	0.483000													20	109					0	0	1	0	0
OR5K2	402135	broad.mit.edu	37	3	98217355	98217355	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:98217355A>T	ENST00000427338.1	+	1	908	c.831A>T	c.(829-831)ttA>ttT	p.L277F	CLDND1_ENST00000502288.1_Intron	NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CTGCTATTTTATTTACAATAG	0.289000													9	36					0	0	1	0	0
GCC2	9648	broad.mit.edu	37	2	109088444	109088444	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:109088444C>G	ENST00000309863.6	+	6	3373	c.2659C>G	c.(2659-2661)Caa>Gaa	p.Q887E		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	887					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AGAAGTATCTCAAACATGTAG	0.308000													28	21					0	0	1	0	0
ZNF624	57547	broad.mit.edu	37	17	16527670	16527670	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16527670C>G	ENST00000311331.7	-	6	621	c.530G>C	c.(529-531)aGa>aCa	p.R177T		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		ATTTTGTAATCTCAATATCCT	0.358000													20	44					0	0	1	0	0
COL6A2	1292	broad.mit.edu	37	21	47531978	47531978	+	Silent	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr21:47531978C>G	ENST00000300527.4	+	3	305	c.201C>G	c.(199-201)ctC>ctG	p.L67L	COL6A2_ENST00000409416.1_Silent_p.L67L|COL6A2_ENST00000310645.5_Silent_p.L67L|COL6A2_ENST00000397763.1_Silent_p.L67L|COL6A2_ENST00000357838.4_Silent_p.L67L	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	67	Nonhelical region.|VWFA 1.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		ACATCCTGCTCTTCCACATGA	0.617000													14	18					0	0	1	0	0
LAMB2	3913	broad.mit.edu	37	3	49169709	49169709	+	Missense_Mutation	SNP	C	C	G	rs1131783		TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:49169709C>G	ENST00000418109.1	-	4	543	c.379G>C	c.(379-381)Gag>Cag	p.E127Q	LAMB2_ENST00000305544.4_Missense_Mutation_p.E127Q	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	127	Laminin N-terminal.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCACCATTCTCTGACTGCCAC	0.602000													6	8					0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	29008208	29008208	+	Silent	SNP	G	G	C			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr13:29008208G>C	ENST00000282397.4	-	5	914	c.663C>G	c.(661-663)ctC>ctG	p.L221L	FLT1_ENST00000541932.1_Silent_p.L221L|FLT1_ENST00000539099.1_Silent_p.L221L	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	221					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GTCGATGTGTGAGATAGTTTG	0.353000													11	115					0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	70255708	70255708	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:70255708C>G	ENST00000342771.4	+	19	3827	c.3506C>G	c.(3505-3507)tCc>tGc	p.S1169C	AUTS2_ENST00000406775.2_Missense_Mutation_p.S1145C	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1169	His-rich.									breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CGGCTCCACTCCGTGCACCCC	0.701000													8	29					0	0	1	0	0
SLC33A1	9197	broad.mit.edu	37	3	155546144	155546144	+	Missense_Mutation	SNP	G	G	A	rs149578822		TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:155546144G>A	ENST00000392845.3	-	6	1885	c.1505C>T	c.(1504-1506)tCa>tTa	p.S502L	SLC33A1_ENST00000359479.3_Missense_Mutation_p.S502L			O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1						cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TGTAACACATGAGCCACCCAG	0.313000													14	18					0	0	1	0	0
ZNF624	57547	broad.mit.edu	37	17	16526782	16526782	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16526782C>G	ENST00000311331.7	-	6	1509	c.1418G>C	c.(1417-1419)aGa>aCa	p.R473T		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	473					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TTCGTTACATCTAAAAGGTTT	0.373000													38	66					0	0	1	0	0
IVD	3712	broad.mit.edu	37	15	40703469	40703469	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr15:40703469G>A	ENST00000249760.2	+	5	810	c.467G>A	c.(466-468)gGt>gAt	p.G156D	IVD_ENST00000487418.2_Missense_Mutation_p.G159D|IVD_ENST00000490194.1_3'UTR|IVD_ENST00000479013.2_Missense_Mutation_p.G129D	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN	isovaleryl-CoA dehydrogenase	156					leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity			kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)		CTGATCAGTGGTGAGTACATC	0.517000													76	115					0	0	1	0	0
CDCA7L	55536	broad.mit.edu	37	7	21951271	21951271	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:21951271C>G	ENST00000406877.3	-	3	546	c.267G>C	c.(265-267)caG>caC	p.Q89H	CDCA7L_ENST00000356195.5_Missense_Mutation_p.Q55H|CDCA7L_ENST00000373934.4_Intron|CDCA7L_ENST00000465490.1_Intron	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	89	PSIP1-binding.				positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						TCAGATCACTCTGCGTAAATC	0.388000													25	48					0	0	1	0	0
LRRC6	23639	broad.mit.edu	37	8	133623595	133623595	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:133623595G>C	ENST00000519595.1	-	9	1087	c.989C>G	c.(988-990)tCt>tGt	p.S330C	LRRC6_ENST00000250173.1_Missense_Mutation_p.S330C|LRRC6_ENST00000518642.1_Missense_Mutation_p.S330C			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	330	CS.					cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			ATCGATTAAAGAGGTATCCAT	0.313000													20	23					0	0	1	0	0
OSBPL3	26031	broad.mit.edu	37	7	24854781	24854781	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:24854781A>G	ENST00000313367.2	-	19	2520	c.2069T>C	c.(2068-2070)aTc>aCc	p.I690T	OSBPL3_ENST00000353930.1_Missense_Mutation_p.I654T|OSBPL3_ENST00000396431.1_Missense_Mutation_p.I659T|OSBPL3_ENST00000431825.2_Missense_Mutation_p.I623T|OSBPL3_ENST00000409069.1_Missense_Mutation_p.I623T|OSBPL3_ENST00000396429.1_Missense_Mutation_p.I654T|OSBPL3_ENST00000352860.1_Missense_Mutation_p.I659T	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	690					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						GATGTTATGGATGCAAGAGGT	0.398000													12	71					0	0	1	0	0
CCDC40	55036	broad.mit.edu	37	17	78058702	78058702	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:78058702C>G	ENST00000397545.4	+	13	2177	c.2150C>G	c.(2149-2151)tCc>tGc	p.S717C	CCDC40_ENST00000374877.3_Missense_Mutation_p.S717C	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	717					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGCGAGATCTCCCGGCGCACG	0.602000													10	17					0	0	1	0	0
MRE11A	4361	broad.mit.edu	37	11	94194101	94194101	+	Splice_Site	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:94194101C>G	ENST00000323929.3	-	12	1549		c.e12+1		MRE11A_ENST00000393241.4_Splice_Site|MRE11A_ENST00000323977.3_Splice_Site|MRE11A_ENST00000407439.3_Splice_Site	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)						DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				TAAGAAATTACCTTCTCTGCG	0.318000								Homologous recombination	Ataxia-Telangiectasia-Like Disorder				6	13					0	0	1	0	0
SPATA31A7	26165	broad.mit.edu	37	9	65508173	65508173	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr9:65508173C>T	ENST00000355045.2	-	2	238	c.210G>A	c.(208-210)cgG>cgA	p.R70R		NM_015667.2	NP_056482.2			SPATA31 subfamily A, member 7																		CTCTGGGCCTCCGCCTCCGCC	0.527000													36	45					0	0	1	0	0
SETD4	54093	broad.mit.edu	37	21	37429482	37429482	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr21:37429482C>G	ENST00000399215.1	-	2	1466	c.94G>C	c.(94-96)Gaa>Caa	p.E32Q	SETD4_ENST00000481477.1_5'UTR|SETD4_ENST00000399212.1_Missense_Mutation_p.E8Q|SETD4_ENST00000399205.1_Missense_Mutation_p.E8Q|SETD4_ENST00000399207.1_Missense_Mutation_p.E32Q|SETD4_ENST00000332131.4_Missense_Mutation_p.E32Q|SETD4_ENST00000399208.2_Missense_Mutation_p.E32Q|SETD4_ENST00000399201.1_Missense_Mutation_p.E8Q			Q9NVD3	SETD4_HUMAN	SET domain containing 4	32										autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						TCTATAAATTCAGACTTGTGG	0.398000													21	39					0	0	1	0	0
MON2	23041	broad.mit.edu	37	12	62929388	62929388	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:62929388C>T	ENST00000393630.3	+	14	2190	c.1799C>T	c.(1798-1800)tCa>tTa	p.S600L	MON2_ENST00000280379.6_Missense_Mutation_p.S600L|MON2_ENST00000552738.1_Missense_Mutation_p.S600L|MON2_ENST00000546600.1_Missense_Mutation_p.S600L|MON2_ENST00000393632.2_Missense_Mutation_p.S600L|MON2_ENST00000552115.1_Missense_Mutation_p.S600L|MON2_ENST00000393629.2_Missense_Mutation_p.S600L	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	600					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		CTTGTAACTTCAAGAGATGCC	0.413000													7	62					0	0	1	0	0
WDPCP	51057	broad.mit.edu	37	2	63712069	63712069	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:63712069G>A	ENST00000409562.3	-	5	552	c.306C>T	c.(304-306)gaC>gaT	p.D102D	WDPCP_ENST00000272321.7_Silent_p.D102D|WDPCP_ENST00000409835.1_5'UTR			O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	102					cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						CTTTGAGCGAGTCTCGGAGTT	0.343000													10	32					0	0	1	0	0
MBD6	114785	broad.mit.edu	37	12	57921371	57921371	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:57921371C>G	ENST00000355673.3	+	8	2520	c.2164C>G	c.(2164-2166)Ctg>Gtg	p.L722V	MBD6_ENST00000431731.2_Missense_Mutation_p.L722V	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	722	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						GGCCTCCTCTCTGGGCAAGGC	0.602000													14	77					0	0	1	0	0
DOT1L	84444	broad.mit.edu	37	19	2222099	2222099	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:2222099C>T	ENST00000398665.3	+	24	2967	c.2931C>T	c.(2929-2931)acC>acT	p.T977T		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	977						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTTTTGCCACCGTGGGGTCCC	0.701000													11	11					0	0	1	0	0
ZNF624	57547	broad.mit.edu	37	17	16526963	16526963	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16526963C>T	ENST00000311331.7	-	6	1328	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TAGGGTTTCTCACCATTGTGA	0.388000													21	51					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53578103	53578103	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chrX:53578103C>T	ENST00000342160.3	-	64	9601	c.9144G>A	c.(9142-9144)caG>caA	p.Q3048Q	HUWE1_ENST00000262854.6_Silent_p.Q3048Q			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3048					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AGCTGGCATTCTGTGCTAGTT	0.562000													13	4					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13913870	13913870	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr5:13913870G>A	ENST00000265104.4	-	11	1622	c.1518C>T	c.(1516-1518)gaC>gaT	p.D506D		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	506	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TAGTGGCCATGTCTTCCAGCC	0.358000									Kartagener syndrome				31	30					0	0	1	0	0
USP53	54532	broad.mit.edu	37	4	120181753	120181753	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr4:120181753C>G	ENST00000450251.1	+	7	1311	c.767C>G	c.(766-768)tCt>tGt	p.S256C	USP53_ENST00000274030.6_Missense_Mutation_p.S256C			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	256					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						TCCGAGCATTCTGACTTGACC	0.378000													14	71					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8521491	8521491	+	Silent	SNP	T	T	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr9:8521491T>A	ENST00000381196.4	-	17	1290	c.747A>T	c.(745-747)ccA>ccT	p.P249P	PTPRD_ENST00000356435.5_Silent_p.P249P|PTPRD_ENST00000540109.1_Silent_p.P249P|PTPRD_ENST00000360074.4_Silent_p.P236P|PTPRD_ENST00000486161.1_Silent_p.P249P|PTPRD_ENST00000358503.5_Silent_p.P236P|PTPRD_ENST00000537002.1_Silent_p.P246P|PTPRD_ENST00000397606.3_Silent_p.P239P|PTPRD_ENST00000355233.5_Silent_p.P249P|PTPRD_ENST00000397611.3_Silent_p.P246P|PTPRD_ENST00000397617.3_Silent_p.P239P	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	249	Ig-like C2-type 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CGCTTCCGCCTGGCATGATTT	0.468000										TSP Lung(15;0.13)			8	46					0	0	1	0	0
OR10C1	442194	broad.mit.edu	37	6	29408455	29408455	+	Silent	SNP	C	C	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:29408455C>A	ENST00000444197.2	+	1	1373	c.663C>A	c.(661-663)ctC>ctA	p.L221L	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GGCGTATCCTCGTTACCATCT	0.592000													19	89					3.32936e-07	3.48835e-07	1	1	0
HIRIP3	8479	broad.mit.edu	37	16	30004529	30004529	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr16:30004529C>T	ENST00000279392.3	-	7	2500	c.1670G>A	c.(1669-1671)tGa>tAa	p.*557*	HIRIP3_ENST00000564026.1_3'UTR	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	0					chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						TGGCAGAGCTCAGTTACTCTC	0.567000													4	8					0	0	1	0	0
OR52E2	119678	broad.mit.edu	37	11	5079881	5079881	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:5079881C>T	ENST00000321522.2	-	1	976	c.977G>A	c.(976-978)tGa>tAa	p.*326*		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		AAATTGCATTCAGAACCTCGT	0.313000													8	22					0	0	1	0	0
ZNF624	57547	broad.mit.edu	37	17	16527693	16527693	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16527693C>T	ENST00000311331.7	-	6	598	c.507G>A	c.(505-507)tgG>tgA	p.W169*		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CATTCCATTTCCATAACCCTT	0.383000													16	40					0	0	1	0	0
TPCN1	53373	broad.mit.edu	37	12	113705698	113705698	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:113705698C>T	ENST00000550785.1	+	6	850	c.681C>T	c.(679-681)ctC>ctT	p.L227L	TPCN1_ENST00000541517.1_Silent_p.L227L|TPCN1_ENST00000335509.6_Silent_p.L155L|TPCN1_ENST00000392569.4_Silent_p.L87L	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	155						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						TGTTTGAACTCTGCATGAAGT	0.607000													6	16					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237813229	237813229	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:237813229C>T	ENST00000366574.2	+	50	7882	c.7565C>T	c.(7564-7566)aCa>aTa	p.T2522I	RYR2_ENST00000542537.1_Missense_Mutation_p.T2506I|RYR2_ENST00000360064.6_Missense_Mutation_p.T2520I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2522	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TACCTTTGCACAGCCGTCTTG	0.463000													18	44					0	0	1	0	0
RBM4	5936	broad.mit.edu	37	11	66407491	66407491	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:66407491G>A	ENST00000409406.1	+	1	1086	c.309G>A	c.(307-309)ccG>ccA	p.P103P	RBM4_ENST00000514361.3_Intron|RBM4_ENST00000530235.1_Silent_p.P103P|RBM4_ENST00000310092.7_Silent_p.P103P|RBM4_ENST00000503028.2_Silent_p.P103P|RBM4_ENST00000506523.2_Silent_p.P103P|RBM4_ENST00000578778.1_Silent_p.P103P|RBM4_ENST00000483858.1_Silent_p.P103P|RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000396053.4_Silent_p.P103P|RBM4_ENST00000398692.4_Silent_p.P103P|RBM4_ENST00000408993.2_Silent_p.P103P|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000532968.1_Silent_p.P103P					RNA binding motif protein 4											endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		AGTATGGTCCGGTCATCGAAT	0.498000													95	52					0	0	1	0	0
BRD8	10902	broad.mit.edu	37	5	137488324	137488324	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr5:137488324C>G	ENST00000254900.5	-	21	3074	c.2703G>C	c.(2701-2703)tgG>tgC	p.W901C		NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	901					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CAGTTTCCCTCCAGTTGCCCA	0.517000													49	57					0	0	1	0	0
ETV6	2120	broad.mit.edu	37	12	12022825	12022825	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:12022825G>A	ENST00000396373.4	+	5	1205	c.931G>A	c.(931-933)Gac>Aac	p.D311N		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	311						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				TCATCGGGAAGACCTGGCTTA	0.582000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""								39	32					0	0	1	0	0
IRF2BPL	64207	broad.mit.edu	37	14	77492772	77492772	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr14:77492772G>A	ENST00000238647.3	-	1	2262	c.1364C>T	c.(1363-1365)tCg>tTg	p.S455L		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	455						nucleus				endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						CTTGAAACCCGAGGATAGGCC	0.612000													7	5					0	0	1	0	0
C12orf43	64897	broad.mit.edu	37	12	121442238	121442238	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:121442238G>A	ENST00000445832.3	-	6	519	c.417C>T	c.(415-417)tcC>tcT	p.S139S	C12orf43_ENST00000366211.2_Silent_p.S128S|C12orf43_ENST00000537817.1_Silent_p.S170S|C12orf43_ENST00000536407.2_Intron|C12orf43_ENST00000539736.1_Silent_p.S159S|C12orf43_ENST00000288757.3_Silent_p.S169S			Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	169										cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GTAGGATGTCGGACGCCGACA	0.577000													11	55					0	0	1	0	0
HARBI1	283254	broad.mit.edu	37	11	46637415	46637415	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:46637415C>T	ENST00000326737.3	-	2	620	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K		NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	125						cytoplasm|nucleus	metal ion binding|nuclease activity			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						ATGGAGGCTTCATCAGCTGGA	0.522000													18	66					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123516590	123516590	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chrX:123516590A>G	ENST00000422452.2	-	31	7433	c.7370T>C	c.(7369-7371)tTa>tCa	p.L2457S	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.L2450S	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TAAATTTTCTAATTCAGGTTT	0.353000													61	21					0	0	1	0	0
DDC	1644	broad.mit.edu	37	7	50595941	50595941	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:50595941C>G	ENST00000444124.2	-	6	808	c.608G>C	c.(607-609)gGa>gCa	p.G203A	DDC_ENST00000431062.1_Intron|DDC_ENST00000380984.4_Missense_Mutation_p.G203A|DDC_ENST00000489162.1_5'UTR|DDC_ENST00000357936.5_Missense_Mutation_p.G203A|DDC_ENST00000426377.1_Missense_Mutation_p.G125A	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	203					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	TAATTTCACTCCACCAATTAA	0.527000													15	50					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168103464	168103464	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:168103464G>A	ENST00000409195.1	+	9	5651	c.5562G>A	c.(5560-5562)caG>caA	p.Q1854Q	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Silent_p.Q1854Q|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Silent_p.Q1632Q	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1679					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTGTAAATCAGAAAACAGTGA	0.388000													25	29					0	0	1	0	0
BTBD7	55727	broad.mit.edu	37	14	93760396	93760396	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr14:93760396A>G	ENST00000334746.5	-	3	1277	c.970T>C	c.(970-972)Tat>Cat	p.Y324H	BTBD7_ENST00000298896.3_Missense_Mutation_p.Y324H|BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000393170.2_5'UTR|BTBD7_ENST00000555525.1_Missense_Mutation_p.Y324H	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	324	BTB 2.									breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		ACTGTTGCATATTTTTTTGGT	0.418000													10	26					0	0	1	0	0
HIST1H2AK	8330	broad.mit.edu	37	6	27805852	27805852	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:27805852C>T	ENST00000330180.2	-	1	265	c.266G>A	c.(265-267)cGc>cAc	p.R89H		NM_003510.2	NP_003501.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ak	89					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2)	10						CTCGTCGTTGCGGATGGCCAG	0.597000													4	198					0	0	1	0	0
SLC2A1	6513	broad.mit.edu	37	1	43394663	43394663	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:43394663G>A	ENST00000426263.3	-	8	1192	c.1014C>T	c.(1012-1014)ctC>ctT	p.L338L	SLC2A1_ENST00000475162.1_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	338					carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	CGAGGCCTATGAGGTGCAGGG	0.622000													21	62					0	0	1	0	0
SLC7A6OS	84138	broad.mit.edu	37	16	68335260	68335260	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr16:68335260C>G	ENST00000263997.6	-	5	866	c.848G>C	c.(847-849)aGa>aCa	p.R283T	SLC7A6_ENST00000219343.6_3'UTR|SLC7A6_ENST00000566454.1_3'UTR	NM_032178.2	NP_115554.2	Q96CW6	S7A6O_HUMAN	solute carrier family 7, member 6 opposite strand	283					protein transport	cytoplasm|nucleus				breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)		CATCCGCTGTCTGCTGCTGCC	0.522000													27	48					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48815271	48815271	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:48815271G>C	ENST00000314191.2	-	27	3183	c.3127C>G	c.(3127-3129)Caa>Gaa	p.Q1043E	PRKDC_ENST00000338368.3_Missense_Mutation_p.Q1043E|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1043					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GGTGTTATTTGCTTAATGGAC	0.423000								Non-homologous end-joining					8	37					0	0	1	0	0
SIRPG	55423	broad.mit.edu	37	20	1638344	1638344	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr20:1638344G>A	ENST00000303415.3	-	1	81	c.17C>T	c.(16-18)tCc>tTc	p.S6F	SIRPG_ENST00000216927.4_Missense_Mutation_p.S6F|SIRPG_ENST00000381583.2_Missense_Mutation_p.S6F|SIRPG_ENST00000344103.4_Missense_Mutation_p.S6F	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	6					blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						ATGGGGCCAGGAGGCTGGGAC	0.557000													11	26					0	0	1	0	0
TRPA1	8989	broad.mit.edu	37	8	72973899	72973899	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:72973899A>G	ENST00000262209.4	-	7	1112	c.905T>C	c.(904-906)gTt>gCt	p.V302A		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	302						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GGTTGTGTTAACAATATCCAC	0.428000													9	66					0	0	1	0	0
ZNF624	57547	broad.mit.edu	37	17	16526922	16526922	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16526922C>T	ENST00000311331.7	-	6	1369	c.1278G>A	c.(1276-1278)agG>agA	p.R426R		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	426					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		ATGACTTGTTCCTAAAGGCTT	0.388000													29	51					0	0	1	0	0
SMEK2	57223	broad.mit.edu	37	2	55825620	55825620	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:55825620C>G	ENST00000272313.5	-	4	1180	c.853G>C	c.(853-855)Gag>Cag	p.E285Q	SMEK2_ENST00000345102.5_Missense_Mutation_p.E285Q|SMEK2_ENST00000407823.3_Missense_Mutation_p.E285Q	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	285						microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGAAAATTCTCTTCAAAAACA	0.348000													40	33					0	0	1	0	0
TRO	7216	broad.mit.edu	37	X	54957054	54957054	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chrX:54957054C>T	ENST00000173898.7	+	12	4009	c.3897C>T	c.(3895-3897)ttC>ttT	p.F1299F	TRO_ENST00000420798.2_Silent_p.F830F|TRO_ENST00000399736.1_Intron|TRO_ENST00000375041.2_Silent_p.F902F|TRO_ENST00000319167.8_Intron|TRO_ENST00000375022.4_Intron	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1299	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						ATGCTAGTTTCGGCAGCACAC	0.582000													17	6					0	0	1	0	0
PLIN3	10226	broad.mit.edu	37	19	4859618	4859618	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:4859618T>C	ENST00000221957.4	-	4	508	c.332A>G	c.(331-333)cAg>cGg	p.Q111R	PLIN3_ENST00000592528.1_Missense_Mutation_p.Q111R|PLIN3_ENST00000585479.1_Missense_Mutation_p.Q111R	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	111				ILQ -> MLR (in Ref. 2; AAD11622).	vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	CGTGGGCTGCTGCAGGATGGG	0.572000													23	23					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39425843	39425843	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr13:39425843G>A	ENST00000280481.7	+	11	6979	c.6763G>A	c.(6763-6765)Gaa>Aaa	p.E2255K		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2255	Calx-beta 5.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.E2255*(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TAAATTTGGAGAAACCAAATT	0.368000													13	28					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61511837	61511837	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr20:61511837C>G	ENST00000266070.4	-	16	5796	c.5471G>C	c.(5470-5472)aGa>aCa	p.R1824T	DIDO1_ENST00000395343.1_Missense_Mutation_p.R1824T	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1824	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGAGGGGCCTCTGCTGTCCCC	0.617000													71	36					0	0	1	0	0
EMILIN2	84034	broad.mit.edu	37	18	2892205	2892205	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr18:2892205G>A	ENST00000254528.3	+	4	2239	c.2080G>A	c.(2080-2082)Ggg>Agg	p.G694R		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	694					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		ATGCACGCAGGGGGTCCAGAG	0.562000													32	45					0	0	1	0	0
ACAP3	116983	broad.mit.edu	37	1	1235416	1235416	+	Missense_Mutation	SNP	G	G	T	rs147197474	byFrequency	TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:1235416G>T	ENST00000354700.5	-	8	802	c.600C>A	c.(598-600)ttC>ttA	p.F200L	ACAP3_ENST00000353662.3_Missense_Mutation_p.F158L	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	200					filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						CCTGCTGGAAGAAGCTGGACT	0.657000													9	8					3.09899e-07	3.25612e-07	1	1	0
USB1	79650	broad.mit.edu	37	16	58051329	58051329	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr16:58051329A>T	ENST00000219281.3	+	5	706	c.595A>T	c.(595-597)Acc>Tcc	p.T199S	USB1_ENST00000539737.2_Missense_Mutation_p.T181S|USB1_ENST00000561743.1_Missense_Mutation_p.T148S|USB1_ENST00000565662.1_3'UTR	NM_024598.3	NP_078874.2			U6 snRNA biogenesis 1																		ATTCAACCTCACCACTTTCTA	0.483000													5	25					0	0	1	0	0
ZNF624	57547	broad.mit.edu	37	17	16527465	16527465	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16527465C>G	ENST00000311331.7	-	6	826	c.735G>C	c.(733-735)aaG>aaC	p.K245N		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TGCAAATTATCTTCCCCAAAT	0.383000													57	55					0	0	1	0	0
SASH1	23328	broad.mit.edu	37	6	148865205	148865205	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:148865205G>C	ENST00000367467.3	+	18	3074	c.2599G>C	c.(2599-2601)Gaa>Caa	p.E867Q		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	867							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GATTGTACCTGAAGTGCCACA	0.572000													57	46					0	0	1	0	0
EPS15	2060	broad.mit.edu	37	1	51875267	51875267	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:51875267T>G	ENST00000371733.3	-	14	1311	c.1215A>C	c.(1213-1215)aaA>aaC	p.K405N	EPS15_ENST00000493793.1_5'UTR|EPS15_ENST00000371730.2_Missense_Mutation_p.K405N|EPS15_ENST00000396122.4_Missense_Mutation_p.K82N	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	405					cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						CCAGCTGGGCTTTCTGCTCAT	0.468000			T	MLL	ALL								14	38					0	0	1	0	0
TBC1D16	125058	broad.mit.edu	37	17	77922741	77922741	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:77922741C>T	ENST00000310924.2	-	8	1586	c.1471G>A	c.(1471-1473)Gac>Aac	p.D491N	TBC1D16_ENST00000570373.1_Missense_Mutation_p.D130N|TBC1D16_ENST00000572862.1_Missense_Mutation_p.D129N|TBC1D16_ENST00000340848.7_Missense_Mutation_p.D129N|TBC1D16_ENST00000576768.1_Missense_Mutation_p.D116N	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	491	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			CGGACCACGTCTTTGTCCACA	0.602000													26	46					0	0	1	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261731	39261731	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:39261731G>A	ENST00000391415.1	+	1	148	c.91G>A	c.(91-93)Gag>Aag	p.E31K		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	31	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament		p.E31Q(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						CAGCTGCTGTGAGACCACCTG	0.637000													97	8					0	0	1	0	0
FERMT2	10979	broad.mit.edu	37	14	53342072	53342072	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr14:53342072G>C	ENST00000395631.2	-	8	1183	c.967C>G	c.(967-969)Cat>Gat	p.H323D	FERMT2_ENST00000553373.1_Missense_Mutation_p.H323D|FERMT2_ENST00000341590.3_Missense_Mutation_p.H323D|FERMT2_ENST00000343279.4_Missense_Mutation_p.H323D|FERMT2_ENST00000399304.3_Missense_Mutation_p.H323D			Q96AC1	FERM2_HUMAN	fermitin family member 2	323	FERM.				actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					TTATTGATATGATACTGAAAC	0.308000													16	33					0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8678319	8678319	+	Silent	SNP	G	G	C			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr20:8678319G>C	ENST00000378641.3	+	11	1531	c.1056G>C	c.(1054-1056)gtG>gtC	p.V352V	PLCB1_ENST00000338037.6_Silent_p.V352V|PLCB1_ENST00000378637.2_Silent_p.V352V	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	352	PI-PLC X-box.			V -> A (in Ref. 2; AAF86613).	activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						ATCGCCAAGTGCTCCTGTCTG	0.512000													31	61					0	0	1	0	0
PCOLCE2	26577	broad.mit.edu	37	3	142539827	142539827	+	Missense_Mutation	SNP	G	G	C	rs2304735		TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:142539827G>C	ENST00000295992.3	-	8	1316	c.1010C>G	c.(1009-1011)tCg>tGg	p.S337W	PCOLCE2_ENST00000485766.1_Silent_p.L257L	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	337	NTR.					extracellular region	collagen binding|heparin binding|peptidase activator activity			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						GTTGATGATCGAGACTGTGGC	0.502000													13	20					0	0	1	0	0
CSTF2	1478	broad.mit.edu	37	X	100086569	100086569	+	Silent	SNP	C	C	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chrX:100086569C>A	ENST00000415585.2	+	10	1037	c.1015C>A	c.(1015-1017)Cga>Aga	p.R339R	CSTF2_ENST00000372972.2_Silent_p.R319R			P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	319	Gly/Pro-rich.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						CCCAACCCCTCGAGGCTTGTT	0.532000													26	9					4.26978e-12	4.61631e-12	1	1	0
MAP3K13	9175	broad.mit.edu	37	3	185146688	185146688	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:185146688G>A	ENST00000265026.3	+	2	653	c.319G>A	c.(319-321)Gga>Aga	p.G107R	MAP3K13_ENST00000446828.1_Intron|MAP3K13_ENST00000535426.1_Intron|MAP3K13_ENST00000443863.1_Intron|MAP3K13_ENST00000424227.1_Missense_Mutation_p.G107R	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	107					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			CACGGTGGACGGAGAGAGCAC	0.517000													11	25					0	0	1	0	0
CCDC40	55036	broad.mit.edu	37	17	78059829	78059829	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:78059829G>C	ENST00000397545.4	+	14	2290	c.2263G>C	c.(2263-2265)Gaa>Caa	p.E755Q	CCDC40_ENST00000374877.3_Missense_Mutation_p.E755Q	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	755					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CCTGGAGCTTGAAATCAAAAG	0.562000													22	37					0	0	1	0	0
EEF1D	1936	broad.mit.edu	37	8	144671800	144671800	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:144671800C>T	ENST00000532741.1	-	1	830	c.602G>A	c.(601-603)gGa>gAa	p.G201E	EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000529272.1_Intron|EEF1D_ENST00000423316.2_Missense_Mutation_p.G151E|EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000442189.2_Missense_Mutation_p.G151E|EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000317198.6_Intron			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	0					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CACCTGGTTTCCATGGGTGCA	0.652000													5	9					0	0	1	0	0
EPB41	2035	broad.mit.edu	37	1	29438879	29438879	+	Splice_Site	SNP	G	G	C			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:29438879G>C	ENST00000343067.4	+	19	2542		c.e19-1		EPB41_ENST00000373800.3_Splice_Site|EPB41_ENST00000349460.4_Splice_Site|EPB41_ENST00000398863.2_Splice_Site|EPB41_ENST00000356093.2_Splice_Site|EPB41_ENST00000347529.3_Splice_Site|EPB41_ENST00000373798.1_Splice_Site|EPB41_ENST00000460378.1_Splice_Site	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)						blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		TTTGGTTCCAGACTGTAAAAG	0.373000													8	34					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131347041	131347041	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr9:131347041C>T	ENST00000358161.5	+	18	2592	c.2479C>T	c.(2479-2481)Caa>Taa	p.Q827*	SPTAN1_ENST00000372731.4_Nonsense_Mutation_p.Q827*|SPTAN1_ENST00000372739.3_Nonsense_Mutation_p.Q827*			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	827					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AAAGAAACATCAAGCCTTACA	0.448000													18	26					0	0	1	0	0
ADAM22	53616	broad.mit.edu	37	7	87778343	87778343	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:87778343C>T	ENST00000398204.4	+	18	1860	c.1537C>T	c.(1537-1539)Cgt>Tgt	p.R513C	ADAM22_ENST00000398201.4_Missense_Mutation_p.R513C|ADAM22_ENST00000315984.7_Missense_Mutation_p.R513C|ADAM22_ENST00000265727.7_Missense_Mutation_p.R513C|ADAM22_ENST00000398209.3_Missense_Mutation_p.R513C	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	513	Disintegrin.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TTGTGATATTCGTGAAACGTG	0.383000													5	34					0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161132128	161132128	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:161132128G>T	ENST00000308192.9	+	4	375	c.312G>T	c.(310-312)aaG>aaT	p.K104N	PLG_ENST00000462918.1_3'UTR|PLG_ENST00000366924.2_Missense_Mutation_p.K104N	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	104	Kringle 1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CAGAGTGCAAGACTGGGAATG	0.458000													8	24					9.70103e-10	1.03979e-09	1	1	0
ZNF624	57547	broad.mit.edu	37	17	16526858	16526858	+	Missense_Mutation	SNP	C	C	T	rs138787716		TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16526858C>T	ENST00000311331.7	-	6	1433	c.1342G>A	c.(1342-1344)Gag>Aag	p.E448K		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	448					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TTCCCACACTCGTTGCACTGA	0.388000													38	43					0	0	1	0	0
ESRP2	80004	broad.mit.edu	37	16	68266170	68266170	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr16:68266170C>G	ENST00000473183.2	-	9	1514	c.976G>C	c.(976-978)Gag>Cag	p.E326Q	ESRP2_ENST00000565858.1_Missense_Mutation_p.E336Q			Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	336	RRM 1.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						TTTACAAACTCCTCCCCTGTC	0.582000													8	27					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77376977	77376977	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr9:77376977G>A	ENST00000451710.3	-	26	4847	c.4610C>T	c.(4609-4611)gCt>gTt	p.A1537V	TRPM6_ENST00000361255.3_Missense_Mutation_p.A1532V|TRPM6_ENST00000360774.1_Missense_Mutation_p.A1537V|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000449912.2_Missense_Mutation_p.A1532V|TRPM6_ENST00000376864.4_Missense_Mutation_p.A1537V|TRPM6_ENST00000376871.3_Intron			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1537					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ATGACTCCTAGCGAAGGGCCT	0.413000													11	19					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34148659	34148659	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chrX:34148659G>A	ENST00000346193.3	-	1	1788	c.1737C>T	c.(1735-1737)taC>taT	p.Y579Y		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	579										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GTTCTTTTATGTAGGATGCTC	0.483000													18	5					0	0	1	0	0
KRTAP4-5	85289	broad.mit.edu	37	17	39305619	39305619	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:39305619G>T	ENST00000343246.4	-	1	435	c.401C>A	c.(400-402)tCt>tAt	p.S134Y		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	139	27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].					keratin filament		p.S134Y(2)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ttcacagcaagaggggtggca	0.637000													4	68					0.000602214	0.000610397	1	1	0
ZNF624	57547	broad.mit.edu	37	17	16526838	16526838	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16526838C>G	ENST00000311331.7	-	6	1453	c.1362G>C	c.(1360-1362)aaG>aaC	p.K454N		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	454					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TTGTGGTATTCTTAAAAGACT	0.383000													36	50					0	0	1	0	0
ZNF624	57547	broad.mit.edu	37	17	16526725	16526725	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16526725C>T	ENST00000311331.7	-	6	1566	c.1475G>A	c.(1474-1476)aGa>aAa	p.R492K		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	492					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		AGTGTGAGTTCTTATATGTAC	0.383000													54	66					0	0	1	0	0
P2RX3	5024	broad.mit.edu	37	11	57106039	57106039	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:57106039C>T	ENST00000263314.2	+	1	49	c.15C>T	c.(13-15)tcC>tcT	p.S5S	P2RX3_ENST00000533436.1_3'UTR	NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	5					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						ACTGCATATCCGACTTCTTCA	0.542000													5	43					0	0	1	0	0
MAGEA4	4103	broad.mit.edu	37	X	151092370	151092370	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chrX:151092370C>T	ENST00000370335.1	+	3	501	c.234C>T	c.(232-234)ttC>ttT	p.F78F	MAGEA4_ENST00000370337.4_Silent_p.F78F|MAGEA4_ENST00000360243.2_Silent_p.F78F|MAGEA4_ENST00000370340.3_Silent_p.F78F|MAGEA4_ENST00000393921.1_Silent_p.F78F|MAGEA4_ENST00000276344.2_Silent_p.F78F|MAGEA4_ENST00000393920.1_Silent_p.F78F			P43358	MAGA4_HUMAN	melanoma antigen family A, 4	78							protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CCATCAGCTTCACTTGCTGGA	0.602000													18	14					0	0	1	0	0
MAPK9	5601	broad.mit.edu	37	5	179666936	179666936	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr5:179666936C>A	ENST00000452135.2	-	10	1346	c.1048G>T	c.(1048-1050)Gaa>Taa	p.E350*	MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000393360.3_Nonsense_Mutation_p.E350*|MAPK9_ENST00000347470.4_Nonsense_Mutation_p.E265*|MAPK9_ENST00000455781.1_Nonsense_Mutation_p.E350*|MAPK9_ENST00000343111.6_Nonsense_Mutation_p.E350*			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	350					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCCATTCTTCAATTGCATGT	0.348000													9	33					1.58986e-06	1.66112e-06	1	1	0
MTRF1	9617	broad.mit.edu	37	13	41791298	41791298	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr13:41791298C>G	ENST00000379480.4	-	10	1391	c.1291G>C	c.(1291-1293)Gaa>Caa	p.E431Q	MTRF1_ENST00000379477.1_Missense_Mutation_p.E431Q|MTRF1_ENST00000430347.2_3'UTR	NM_004294.2	NP_004285.2	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	431					regulation of translational termination	mitochondrion	translation release factor activity, codon specific			breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		GCAATGGCTTCTTCATCTGCT	0.338000													21	57					0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87662917	87662917	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr4:87662917G>A	ENST00000436978.1	+	16	2915	c.2435G>A	c.(2434-2436)cGc>cAc	p.R812H	PTPN13_ENST00000511467.1_Missense_Mutation_p.R812H|PTPN13_ENST00000316707.6_Missense_Mutation_p.R812H|PTPN13_ENST00000411767.2_Missense_Mutation_p.R812H|PTPN13_ENST00000427191.2_Missense_Mutation_p.R812H	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	812	FERM.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AATGGAGTGCGCACATTGGTC	0.388000													3	13					0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108384189	108384189	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:108384189G>A	ENST00000265843.4	-	6	2155	c.2045C>T	c.(2044-2046)tCt>tTt	p.S682F	EXPH5_ENST00000428840.1_Missense_Mutation_p.S606F|EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000443411.1_Missense_Mutation_p.S494F|EXPH5_ENST00000525344.1_Missense_Mutation_p.S675F	NM_015065.2	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5	682					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AAGAGGCAGAGAGTCAACTGA	0.413000													17	44					0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130766636	130766636	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr5:130766636C>A	ENST00000509018.1	-	26	4586	c.4381G>T	c.(4381-4383)Gag>Tag	p.E1461*	RAPGEF6_ENST00000307984.5_Nonsense_Mutation_p.E1474*|RAPGEF6_ENST00000296859.6_Nonsense_Mutation_p.E1469*|RAPGEF6_ENST00000507093.1_Nonsense_Mutation_p.E1469*|CTC-432M15.3_ENST00000514667.1_Nonsense_Mutation_p.E1511*	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1461					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TCAGATGACTCAGCTGGGGTG	0.458000													20	92					1.00905e-13	1.0973e-13	1	1	0
PTPRT	11122	broad.mit.edu	37	20	40790057	40790057	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr20:40790057C>A	ENST00000373198.4	-	18	2909	c.2674G>T	c.(2674-2676)Gac>Tac	p.D892Y	PTPRT_ENST00000356100.2_Missense_Mutation_p.D882Y|PTPRT_ENST00000373184.1_Missense_Mutation_p.D863Y|PTPRT_ENST00000373190.1_Missense_Mutation_p.D872Y|PTPRT_ENST00000373193.3_Missense_Mutation_p.D876Y|PTPRT_ENST00000373201.1_Missense_Mutation_p.D863Y|PTPRT_ENST00000373187.1_Missense_Mutation_p.D873Y	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T		Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGCAGCAAGTCAGCCACCCGG	0.597000													41	20					7.63091e-17	8.34701e-17	1	1	0
SYMPK	8189	broad.mit.edu	37	19	46338423	46338423	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:46338423G>C	ENST00000245934.7	-	11	1550	c.1306C>G	c.(1306-1308)Ccc>Gcc	p.P436A		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	436					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GACTCCACGGGGGTGTAGATG	0.607000													20	31					0	0	1	0	0
HLA-DRA	3122	broad.mit.edu	37	6	32407746	32407746	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:32407746C>T	ENST00000395388.2	+	1	128	c.19C>T	c.(19-21)Cct>Tct	p.P7S	HLA-DRA_ENST00000374982.5_Missense_Mutation_p.P7S	NM_019111.4	NP_061984.2	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	7					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						AAGTGGAGTCCCTGTGCTAGG	0.473000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of				16	17					0	0	1	0	0
YTHDF3	253943	broad.mit.edu	37	8	64099876	64099876	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:64099876C>G	ENST00000539294.1	+	4	1620	c.1304C>G	c.(1303-1305)tCt>tGt	p.S435C	YTHDF3_ENST00000517371.1_Intron|YTHDF3_ENST00000521674.1_3'UTR|YTHDF3_ENST00000542911.2_Missense_Mutation_p.S246C	NM_001277817.1|NM_001277818.1|NM_152758.4	NP_001264746.1|NP_001264747.1|NP_689971.4	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	436	YTH.											Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			ATTAAATACTCTATCTGGTGT	0.398000													7	33					0	0	1	0	0
ZPLD1	131368	broad.mit.edu	37	3	102195877	102195877	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:102195877C>T	ENST00000306176.1	+	10	1212	c.1112C>T	c.(1111-1113)tCg>tTg	p.S371L	ZPLD1_ENST00000491959.1_Missense_Mutation_p.S355L|ZPLD1_ENST00000466937.1_Missense_Mutation_p.S355L	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	355						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						ACCAACAATTCGCAACTTGGT	0.308000													25	52					0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113379606	113379606	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:113379606G>A	ENST00000316407.4	-	7	1333	c.923C>T	c.(922-924)tCa>tTa	p.S308L	KIAA2018_ENST00000478658.1_Missense_Mutation_p.S308L|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	308					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GGCAGTTGCTGAGGAGCTGTG	0.413000													24	36					0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98823297	98823297	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:98823297G>A	ENST00000266058.4	-	8	953	c.708C>T	c.(706-708)atC>atT	p.I236I	SLIT1_ENST00000371070.4_Silent_p.I236I|SLIT1_ENST00000371041.3_Silent_p.I236I|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	236	LRRCT 1.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TGAAGAGCCCGATGGTTGGCC	0.647000													9	9					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1926269	1926269	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:1926269G>T	ENST00000399161.2	-	10	2019	c.1272C>A	c.(1270-1272)ttC>ttA	p.F424L	MYT1L_ENST00000428368.2_Missense_Mutation_p.F424L	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	424					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TGGTCATGTCGAACACCTCTT	0.567000													8	40					0.00307968	0.00310465	1	1	0
TXNDC9	10190	broad.mit.edu	37	2	99938659	99938659	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:99938659C>G	ENST00000264255.3	-	4	577	c.322G>C	c.(322-324)Gac>Cac	p.D108H	C2orf15_ENST00000465095.1_Intron|TXNDC9_ENST00000409434.1_Missense_Mutation_p.D108H|TXNDC9_ENST00000434323.1_3'UTR	NM_005783.3	NP_005774.2	O14530	TXND9_HUMAN	thioredoxin domain containing 9	108	Thioredoxin.				cell redox homeostasis		protein binding			lung(1)	1						AGATGTCTGTCTAGTATTTTA	0.343000													16	147					0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56244156	56244156	+	Silent	SNP	C	C	T	rs146611098		TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:56244156C>T	ENST00000332836.2	-	2	1068	c.1041G>A	c.(1039-1041)gtG>gtA	p.V347V		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	347	NACHT.					cytoplasm	ATP binding	p.V347V(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GCCTCTGTTTCACACAAGTAC	0.418000													83	19					0	0	1	0	0
NDRG4	65009	broad.mit.edu	37	16	58537830	58537830	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr16:58537830C>T	ENST00000563799.1	+	2	256	c.150C>T	c.(148-150)gtC>gtT	p.V50V	NDRG4_ENST00000568640.1_Intron|NDRG4_ENST00000394282.4_Intron|NDRG4_ENST00000570248.1_Intron|NDRG4_ENST00000566192.1_Intron|NDRG4_ENST00000356752.4_Intron|NDRG4_ENST00000563022.1_3'UTR|NDRG4_ENST00000569923.1_Intron|NDRG4_ENST00000562999.1_Intron|NDRG4_ENST00000258187.5_Intron|NDRG4_ENST00000394279.2_Intron			Q9ULP0	NDRG4_HUMAN	NDRG family member 4	44					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						CAGCCTCAGTCAGCCCTCCTC	0.652000													4	7					0	0	1	0	0
EIF4G1	1981	broad.mit.edu	37	3	184041700	184041700	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:184041700G>C	ENST00000342981.4	+	15	2824	c.2410G>C	c.(2410-2412)Gag>Cag	p.E804Q	EIF4G1_ENST00000411531.1_Missense_Mutation_p.E764Q|EIF4G1_ENST00000434061.2_Missense_Mutation_p.E608Q|EIF4G1_ENST00000441154.1_Missense_Mutation_p.E640Q|EIF4G1_ENST00000392537.2_Missense_Mutation_p.E716Q|EIF4G1_ENST00000382330.3_Missense_Mutation_p.E810Q|EIF4G1_ENST00000352767.3_Missense_Mutation_p.E810Q|EIF4G1_ENST00000435046.2_Missense_Mutation_p.E607Q|EIF4G1_ENST00000346169.2_Missense_Mutation_p.E803Q|EIF4G1_ENST00000414031.1_Missense_Mutation_p.E763Q|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000424196.1_Missense_Mutation_p.E810Q|EIF4G1_ENST00000427845.1_Missense_Mutation_p.E717Q|EIF4G1_ENST00000319274.6_Missense_Mutation_p.E803Q|EIF4G1_ENST00000350481.5_Missense_Mutation_p.E639Q	NM_182917.4	NP_886553	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	803	eIF3/EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCTCATTTTTGAGAAGGCCAT	0.517000													32	60					0	0	1	0	0
MYPOP	339344	broad.mit.edu	37	19	46393930	46393930	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:46393930C>G	ENST00000322217.5	-	3	1237	c.1151G>C	c.(1150-1152)aGa>aCa	p.R384T		NM_001012643.2	NP_001012661.1	Q86VE0	MYPOP_HUMAN	Myb-related transcription factor, partner of profilin	384						nucleus	DNA binding			large_intestine(2)|lung(1)|skin(1)	4						GAAACCTTTTCTCCGCTTGTG	0.642000													5	24					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41519393	41519393	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:41519393C>G	ENST00000396942.1	-	41	5628	c.5545G>C	c.(5545-5547)Gtg>Ctg	p.V1849L	RP11-930P14.1_ENST00000585088.1_RNA|ANK1_ENST00000522543.1_Missense_Mutation_p.V124L|ANK1_ENST00000352337.4_Intron|ANK1_ENST00000265709.8_Splice_Site|ANK1_ENST00000379758.2_Intron|ANK1_ENST00000289734.7_Splice_Site|ANK1_ENST00000457297.1_Intron|ANK1_ENST00000522231.1_Splice_Site|ANK1_ENST00000314214.8_Splice_Site|ANK1_ENST00000396945.1_Intron|ANK1_ENST00000347528.4_Missense_Mutation_p.V1849L|RP11-930P14.1_ENST00000522388.1_RNA|RP11-930P14.1_ENST00000520418.1_RNA			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1849	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCTACAGTCACCTCCTCGTGC	0.582000													6	44					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56473897	56473897	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:56473897C>G	ENST00000370754.5	-	39	5429	c.5430G>C	c.(5428-5430)gaG>gaC	p.E1810D	DST_ENST00000446842.2_Missense_Mutation_p.E1306D|DST_ENST00000361203.3_Missense_Mutation_p.E1632D|DST_ENST00000370769.4_Missense_Mutation_p.E1632D|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Missense_Mutation_p.E1632D|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron			Q03001	DYST_HUMAN	dystonin	1632					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CAGAAATAATCTCCTTAGCTT	0.398000													40	54					0	0	1	0	0
ZNF624	57547	broad.mit.edu	37	17	16527313	16527313	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16527313C>G	ENST00000311331.7	-	6	978	c.887G>C	c.(886-888)aGa>aCa	p.R296T		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	296					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		AGTATGAGTTCTTTGATGTTG	0.348000													45	43					0	0	1	0	0
ATAD3C	219293	broad.mit.edu	37	1	1396160	1396160	+	Silent	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:1396160C>G	ENST00000378785.2	+	10	1838	c.843C>G	c.(841-843)ccC>ccG	p.P281P		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	281							ATP binding|nucleoside-triphosphatase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GCTGCCACCCCGAGCAGTTCG	0.647000													8	9					0	0	1	0	0
LARGE	9215	broad.mit.edu	37	22	33780253	33780253	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr22:33780253C>A	ENST00000354992.2	-	9	1501	c.930G>T	c.(928-930)atG>atT	p.M310I	LARGE_ENST00000397394.2_Missense_Mutation_p.M310I|LARGE_ENST00000452586.2_Missense_Mutation_p.M109I|LARGE_ENST00000402320.1_Missense_Mutation_p.M310I|LARGE_ENST00000437602.2_Missense_Mutation_p.M310I|LARGE_ENST00000337431.2_Missense_Mutation_p.M310I	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	310					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				GCTCCCATTTCATCTTCCGCA	0.493000													20	35					1.85244e-09	1.97983e-09	1	1	0
ARNT	405	broad.mit.edu	37	1	150795814	150795814	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:150795814T>C	ENST00000358595.5	-	14	1450	c.1250A>G	c.(1249-1251)aAa>aGa	p.K417R	ARNT_ENST00000354396.2_Missense_Mutation_p.K417R|ARNT_ENST00000505755.1_Missense_Mutation_p.K402R|ARNT_ENST00000515192.1_Missense_Mutation_p.K403R	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	417	PAS 2.				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCCTTTTAATTTCACTACCTG	0.368000			T	ETV6	AML								32	41					0	0	1	0	0
ZP4	57829	broad.mit.edu	37	1	238053778	238053778	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:238053778G>A	ENST00000366570.4	-	1	316	c.158C>T	c.(157-159)cCt>cTt	p.P53L	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	53					acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TATTAGTACAGGAGGAGACGT	0.488000													6	25					0	0	1	0	0
OSBPL1A	114876	broad.mit.edu	37	18	21746618	21746618	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr18:21746618C>G	ENST00000319481.3	-	26	2790	c.2584G>C	c.(2584-2586)Gac>Cac	p.D862H	OSBPL1A_ENST00000399443.3_Missense_Mutation_p.D349H|OSBPL1A_ENST00000357041.4_Missense_Mutation_p.D480H	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	862					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CTCTCCATGTCTTTGTCTACT	0.398000													26	27					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68931794	68931794	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:68931794C>G	ENST00000288368.4	+	3	501	c.224C>G	c.(223-225)tCa>tGa	p.S75*	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	75	DH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ATGTTGTTCTCAAACATTGAA	0.363000													26	19					0	0	1	0	0
ZNF624	57547	broad.mit.edu	37	17	16527767	16527767	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16527767C>T	ENST00000311331.7	-	6	524	c.433G>A	c.(433-435)Gat>Aat	p.D145N		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TGTGATAAATCTTCAGAAATA	0.408000													29	37					0	0	1	0	0
PCDH1	5097	broad.mit.edu	37	5	141233792	141233792	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr5:141233792C>G	ENST00000287008.3	-	5	3676	c.3529G>C	c.(3529-3531)Gac>Cac	p.D1177H	PCDH1_ENST00000503492.1_3'UTR	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	0					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GTGTTCCGGTCTTCCGGGGGG	0.667000													3	8					0	0	1	0	0
NDRG4	65009	broad.mit.edu	37	16	58537846	58537846	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr16:58537846C>G	ENST00000563799.1	+	2	272	c.166C>G	c.(166-168)Ccc>Gcc	p.P56A	NDRG4_ENST00000568640.1_Intron|NDRG4_ENST00000394282.4_Intron|NDRG4_ENST00000570248.1_Intron|NDRG4_ENST00000566192.1_Intron|NDRG4_ENST00000356752.4_Intron|NDRG4_ENST00000563022.1_3'UTR|NDRG4_ENST00000569923.1_Intron|NDRG4_ENST00000562999.1_Intron|NDRG4_ENST00000258187.5_Intron|NDRG4_ENST00000394279.2_Intron			Q9ULP0	NDRG4_HUMAN	NDRG family member 4	44					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						TCCTCTGCCTCCCATCAGCCA	0.672000													4	5					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84611709	84611709	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr15:84611709C>T	ENST00000286744.5	+	19	2589	c.2365C>T	c.(2365-2367)Ctg>Ttg	p.L789L	ADAMTSL3_ENST00000567476.1_Silent_p.L789L	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	789	TSP type-1 6.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTGTCGGCAGCTGCTAACGGA	0.547000													5	27					0	0	1	0	0
AVL9	23080	broad.mit.edu	37	7	32623518	32623518	+	Nonstop_Mutation	SNP	G	G	C			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:32623518G>C	ENST00000318709.4	+	16	2167	c.1946G>C	c.(1945-1947)tGa>tCa	p.*649S	AVL9_ENST00000409301.1_Nonstop_Mutation_p.*631S|AVL9_ENST00000404479.1_Intron	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	0						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GAGAAGCCTTGAGCAAGGCGT	0.522000													9	20					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152768727	152768727	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:152768727C>T	ENST00000367255.5	-	29	4136	c.3535G>A	c.(3535-3537)Gag>Aag	p.E1179K	SYNE1_ENST00000367253.4_Missense_Mutation_p.E1179K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E1186K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E1179K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E1186K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E1245K|SYNE1_ENST00000367248.3_Missense_Mutation_p.E1169K|SYNE1_ENST00000413186.2_Missense_Mutation_p.E1179K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1179					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGAGGGTCTCACCCCTTTTG	0.423000										HNSCC(10;0.0054)			19	30					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21230048	21230048	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:21230048T>C	ENST00000233242.1	-	26	9819	c.9692A>G	c.(9691-9693)gAt>gGt	p.D3231G		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3231	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTTGTACTTATCAAACTTAAT	0.368000													12	38					0	0	1	0	0
DHX37	57647	broad.mit.edu	37	12	125461982	125461982	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:125461982C>T	ENST00000308736.2	-	5	891	c.793G>A	c.(793-795)Gtg>Atg	p.V265M	DHX37_ENST00000544745.1_Missense_Mutation_p.V52M	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	265	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		TGCTCGGCCACAGCCTCCATG	0.552000													11	36					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178928079	178928079	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:178928079G>C	ENST00000263967.3	+	8	1514	c.1357G>C	c.(1357-1359)Gaa>Caa	p.E453Q		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	453	C2 PI3K-type.		E -> Q (in cancer; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E453K(11)|p.E453Q(5)|p.H450fs*9(1)|p.G451_L456>V(1)|p.P449_L455del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCATGGATTAGAAGATTTGCT	0.348000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			28	51					0	0	1	0	0
OR6C6	283365	broad.mit.edu	37	12	55688992	55688992	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:55688992C>G	ENST00000358433.2	-	1	24	c.25G>C	c.(25-27)Gag>Cag	p.E9Q		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AGAATGAACTCTATTTCCATT	0.318000													22	15					0	0	1	0	0
TRMT2A	27037	broad.mit.edu	37	22	20100675	20100675	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr22:20100675G>A	ENST00000252136.7	-	10	1903	c.1515C>T	c.(1513-1515)ctC>ctT	p.L505L	TRMT2A_ENST00000404751.3_Silent_p.L505L|TRMT2A_ENST00000492988.1_5'UTR|TRMT2A_ENST00000439169.2_Silent_p.L523L|TRMT2A_ENST00000403707.3_Silent_p.L505L	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	505					RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity	p.L505L(1)		breast(2)|endometrium(2)|lung(5)	9						GGATGGCCACGAGGTGCTGGG	0.612000													7	31					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25351673	25351673	+	RNA	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr15:25351673G>A	ENST00000546682.1	+	0	3911				SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA|SNORD116-29_ENST00000384516.1_RNA	NR_003361.1																						TGCCTGGATCGATGATGACTT	0.458000													9	23					0	0	1	0	0
C1orf56	54964	broad.mit.edu	37	1	151022921	151022921	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:151022921G>A	ENST00000368926.5	+	2	1121	c.1013G>A	c.(1012-1014)aGa>aAa	p.R338K	C1orf56_ENST00000465135.1_3'UTR	NM_017860.3	NP_060330.2	Q9BUN1	CA056_HUMAN	chromosome 1 open reading frame 56	338						extracellular region				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CAGATAGACAGAAACCAGAGG	0.413000													23	52					0	0	1	0	0
ACCS	84680	broad.mit.edu	37	11	44089398	44089398	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:44089398G>A	ENST00000263776.8	+	2	655	c.221G>A	c.(220-222)tGg>tAg	p.W74*	ACCS_ENST00000432284.2_Nonsense_Mutation_p.W74*|ACCS_ENST00000533208.1_Intron	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	74							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						AAATGGTTCTGGGATTCAGCT	0.537000													4	11					0	0	1	0	0
MYCT1	80177	broad.mit.edu	37	6	153043097	153043097	+	Silent	SNP	G	G	C			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:153043097G>C	ENST00000367245.5	+	2	425	c.417G>C	c.(415-417)ctG>ctC	p.L139L	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	139						nucleus				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		ACCTCAGCCTGGCCAGTCTCA	0.493000													18	16					0	0	1	0	0
OTUD4	54726	broad.mit.edu	37	4	146063358	146063358	+	Silent	SNP	A	A	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr4:146063358A>G	ENST00000454497.2	-	18	1754	c.1617T>C	c.(1615-1617)ttT>ttC	p.F539F	OTUD4_ENST00000447906.2_Silent_p.F604F|OTUD4_ENST00000455611.2_5'UTR	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	603							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CTGTTGGTCCAAAAGTTGTAG	0.468000													38	80					0	0	1	0	0
ULBP1	80329	broad.mit.edu	37	6	150289814	150289814	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:150289814C>G	ENST00000229708.3	+	2	200	c.157C>G	c.(157-159)Caa>Gaa	p.Q53E		NM_025218.2	NP_079494.1	Q9BZM6	N2DL1_HUMAN	UL16 binding protein 1		MHC class I alpha-1 like.				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|endoplasmic reticulum|MHC class I protein complex	MHC class I receptor activity			large_intestine(3)|lung(5)|pancreas(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)		GTGTGAAGTTCAAGGCCTGGT	0.463000													38	31					0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156823546	156823546	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:156823546C>G	ENST00000368195.3	-	2	1031	c.635G>C	c.(634-636)aGa>aCa	p.R212T	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	212					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GTGCCCACCTCTCTGGCAGTG	0.607000													13	24					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6686860	6686860	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:6686860C>T	ENST00000245907.6	-	28	3635	c.3543G>A	c.(3541-3543)atG>atA	p.M1181I		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1181					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TCTGTAGGTTCATGTAGTTGG	0.517000													24	40					0	0	1	0	0
CD248	57124	broad.mit.edu	37	11	66083610	66083610	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:66083610G>A	ENST00000311330.3	-	1	905	c.889C>T	c.(889-891)Cgc>Tgc	p.R297C	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	297						integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	AAACCCAGGCGACAGTGGCAG	0.647000													14	10					0	0	1	0	0
WDR41	55255	broad.mit.edu	37	5	76736658	76736658	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr5:76736658G>C	ENST00000296679.4	-	9	1237	c.862C>G	c.(862-864)Cat>Gat	p.H288D	WDR41_ENST00000507029.1_Missense_Mutation_p.H233D|WDR41_ENST00000414719.2_Missense_Mutation_p.H34D	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	288										NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		CATGTGAAATGATGAATAGAA	0.343000													8	21					0	0	1	0	0
MYLK2	85366	broad.mit.edu	37	20	30408244	30408244	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr20:30408244C>T	ENST00000375994.2	+	2	641	c.368C>T	c.(367-369)cCt>cTt	p.P123L	MYLK2_ENST00000375985.4_Missense_Mutation_p.P123L			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	123					cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGCCAGGATCCTGGAAAGCCC	0.657000													6	35					0	0	1	0	0
DHDDS	79947	broad.mit.edu	37	1	26772806	26772806	+	Splice_Site	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:26772806G>A	ENST00000360009.2	+	5	400		c.e5-1		DHDDS_ENST00000236342.7_Splice_Site|DHDDS_ENST00000525682.2_Splice_Site|DHDDS_ENST00000526219.1_Intron|DHDDS_ENST00000427245.2_Splice_Site|DHDDS_ENST00000374185.3_Splice_Site	NM_024887.3|NM_205861.2	NP_079163.2|NP_995583.1	Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase								protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups			breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	15		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		TCCCTGATCAGGGAGAAACTG	0.542000													9	38					0	0	1	0	0
SOSTDC1	25928	broad.mit.edu	37	7	16502559	16502559	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:16502559G>A	ENST00000396652.1	-	5	1019	c.307C>T	c.(307-309)Cgt>Tgt	p.R103C	SOSTDC1_ENST00000307068.4_Missense_Mutation_p.R79C			Q6X4U4	SOSD1_HUMAN	sclerostin domain containing 1	79	CTCK.				Wnt receptor signaling pathway					central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(2)	6	Lung NSC(10;0.185)			UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		TTGGTGGAACGCAGTTCCCGG	0.502000													10	15					0	0	1	0	0
FGF3	2248	broad.mit.edu	37	11	69631101	69631101	+	Missense_Mutation	SNP	C	C	T	rs150581924	by1000genomes	TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:69631101C>T	ENST00000334134.2	-	2	401	c.311G>A	c.(310-312)cGa>cAa	p.R104Q		NM_005247.2	NP_005238.1	P11487	FGF3_HUMAN	fibroblast growth factor 3	104					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation	extracellular region	growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			AGCATAGAGTCGTCCCCTCTT	0.597000													26	457					0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33632979	33632979	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:33632979G>C	ENST00000374316.5	+	14	2458	c.1398G>C	c.(1396-1398)caG>caC	p.Q466H	ITPR3_ENST00000605930.1_Missense_Mutation_p.Q466H			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	466					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						TCATCAGCCAGAATGACCGCA	0.567000													5	36					0	0	1	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35915495	35915495	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:35915495C>G	ENST00000325722.3	-	15	2560	c.2326G>C	c.(2326-2328)Gac>Cac	p.D776H	KIAA0319L_ENST00000485551.1_5'UTR|KIAA0319L_ENST00000373266.4_Missense_Mutation_p.D213H	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	776	PKD 5.					cytoplasmic vesicle part|integral to membrane	protein binding	p.D776N(2)		breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTGGTCCGGTCTGTGTCACTC	0.483000													18	44					0	0	1	0	0
EEA1	8411	broad.mit.edu	37	12	93258690	93258690	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:93258690T>C	ENST00000322349.8	-	3	455	c.191A>G	c.(190-192)cAt>cGt	p.H64R	EEA1_ENST00000547833.1_5'UTR	NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	64					early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						ACCAGCATCATGAACAGCTTC	0.378000													11	44					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22941120	22941120	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:22941120G>A	ENST00000397104.3	-	5	1317	c.1318C>T	c.(1318-1320)Cat>Tat	p.H440Y	ZNF99_ENST00000596209.1_Missense_Mutation_p.H531Y					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTTCCAGTATGAATTATCTTA	0.343000													21	40					0	0	1	0	0
MYO5A	4644	broad.mit.edu	37	15	52672022	52672022	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr15:52672022G>C	ENST00000399231.3	-	17	2339	c.2096C>G	c.(2095-2097)tCa>tGa	p.S699*	MYO5A_ENST00000356338.6_Nonsense_Mutation_p.S699*|MYO5A_ENST00000358212.6_Nonsense_Mutation_p.S699*|MYO5A_ENST00000553916.1_Nonsense_Mutation_p.S699*|MYO5A_ENST00000399233.2_Nonsense_Mutation_p.S699*	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	699	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GGCTCACCGTGAGGGGAAACC	0.448000													20	45					0	0	1	0	0
CNN1	1264	broad.mit.edu	37	19	11651903	11651903	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:11651903T>C	ENST00000252456.2	+	2	287	c.76T>C	c.(76-78)Tat>Cat	p.Y26H	CNN1_ENST00000588468.1_3'UTR|CNN1_ENST00000535659.2_5'UTR|CNN1_ENST00000544952.1_Missense_Mutation_p.Y6H|CNN1_ENST00000592923.1_5'UTR	NM_001299.4	NP_001290.2	P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	26					actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						GGCCCAGAAGTATGACCACCA	0.627000													4	6					0	0	1	0	0
ZNF75A	7627	broad.mit.edu	37	16	3367835	3367835	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr16:3367835C>T	ENST00000574298.1	+	6	1330	c.857C>T	c.(856-858)tCa>tTa	p.S286L	ZNF75A_ENST00000498240.2_3'UTR	NM_153028.2	NP_694573.1	Q96N20	ZN75A_HUMAN	zinc finger protein 75a	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(7)|prostate(1)	12						AGCAGGCGGTCAAGCCTTCTT	0.453000													20	28					0	0	1	0	0
SUV420H1	51111	broad.mit.edu	37	11	67934619	67934619	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:67934619C>G	ENST00000304363.4	-	10	1357	c.1004G>C	c.(1003-1005)aGa>aCa	p.R335T	SUV420H1_ENST00000402789.1_Missense_Mutation_p.R335T|SUV420H1_ENST00000402185.2_Missense_Mutation_p.R312T|SUV420H1_ENST00000405515.1_Missense_Mutation_p.R335T|SUV420H1_ENST00000401547.2_Missense_Mutation_p.R335T	NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CAGTCCCACTCTGGATTTAAA	0.408000													4	40					0	0	1	0	0
CH25H	9023	broad.mit.edu	37	10	90966884	90966884	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:90966884C>T	ENST00000371852.2	-	1	187	c.166G>A	c.(166-168)Gtg>Atg	p.V56M		NM_003956.3	NP_003947.1	O95992	CH25H_HUMAN	cholesterol 25-hydroxylase	56					bile acid biosynthetic process|fatty acid biosynthetic process|sterol biosynthetic process	cytosol|endoplasmic reticulum membrane|integral to membrane	cholesterol 25-hydroxylase activity|iron ion binding			kidney(1)|large_intestine(2)|lung(3)|stomach(1)	7		Colorectal(252;0.0161)		GBM - Glioblastoma multiforme(2;0.000133)		TCCAGGACCACGAAGGGCAGG	0.632000													3	9					0	0	1	0	0
CRTC2	200186	broad.mit.edu	37	1	153920995	153920995	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:153920995G>A	ENST00000368633.1	-	13	1927	c.1800C>T	c.(1798-1800)ttC>ttT	p.F600F	CRTC2_ENST00000368630.3_Silent_p.F280F	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	600					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TCTGGTGGTTGAAGGTGTGGG	0.592000													15	33					0	0	1	0	0
ZCCHC4	29063	broad.mit.edu	37	4	25351119	25351119	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr4:25351119C>T	ENST00000302874.4	+	7	789	c.765C>T	c.(763-765)gcC>gcT	p.A255A	ZCCHC4_ENST00000505451.1_3'UTR	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	255							methyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				TCCAGACTGCCCTTGAAGTAT	0.408000													34	48					0	0	1	0	0
FAP	2191	broad.mit.edu	37	2	163066483	163066483	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:163066483G>T	ENST00000188790.4	-	12	1233	c.1026C>A	c.(1024-1026)agC>agA	p.S342R	FAP_ENST00000443424.1_Missense_Mutation_p.S317R	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	342					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						ATCCAGTTCTGCTTTCTTCTA	0.343000													5	75					0.000157383	0.000161275	1	1	0
FTX	100302692	broad.mit.edu	37	X	73507019	73507019	+	RNA	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chrX:73507019G>A	ENST00000429124.1	-	0	174				MIR545_ENST00000385085.1_RNA																							aacatttactgaggcctacta	0.448000													9	1					0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072001	17072001	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr22:17072001C>T	ENST00000359963.3	-	1	1699	c.1440G>A	c.(1438-1440)gtG>gtA	p.V480V		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	480					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CTTCAGTTCCCACACCCATTA	0.512000													12	53					0	0	1	0	0
FADS6	283985	broad.mit.edu	37	17	72888659	72888659	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:72888659G>A	ENST00000310226.6	-	2	362	c.348C>T	c.(346-348)ttC>ttT	p.F116F		NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN	fatty acid desaturase 6	122					fatty acid biosynthetic process	integral to membrane	oxidoreductase activity	p.F121F(1)|p.F116F(1)		endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					CCTCCACAAAGAAAAGCAGCC	0.597000													3	13					0	0	1	0	0
PSG1	5669	broad.mit.edu	37	19	43376148	43376148	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:43376148C>T	ENST00000244296.2	-	3	617	c.480G>A	c.(478-480)gaG>gaA	p.E160E	PSG1_ENST00000403380.3_Intron|PSG1_ENST00000436291.2_Silent_p.E160E|PSG1_ENST00000595124.1_Intron|PSG1_ENST00000595356.1_Silent_p.E160E|PSG1_ENST00000312439.6_Silent_p.E160E	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				CCTCCATGGTCTCCCTGGGAT	0.537000													22	110					0	0	1	0	0
GABRB1	2560	broad.mit.edu	37	4	47427997	47427997	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr4:47427997C>T	ENST00000295454.3	+	9	1679	c.1387C>T	c.(1387-1389)Ctt>Ttt	p.L463F	GABRB1_ENST00000538619.1_Missense_Mutation_p.L393F	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	463					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CACCTTTTCTCTTTTTAATGT	0.428000													15	88					0	0	1	0	0
ADSS	159	broad.mit.edu	37	1	244582145	244582145	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:244582145G>C	ENST00000366535.3	-	9	1178	c.862C>G	c.(862-864)Caa>Gaa	p.Q288E		NM_001126.3	NP_001117.2	P30520	PURA2_HUMAN	adenylosuccinate synthase	288					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		L-Aspartic Acid(DB00128)	CCAACATTTTGAGGTGGCATA	0.378000													10	29					0	0	1	0	0
NDRG4	65009	broad.mit.edu	37	16	58538305	58538305	+	Silent	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr16:58538305C>G	ENST00000394282.4	+	6	854	c.447C>G	c.(445-447)ccC>ccG	p.P149P	NDRG4_ENST00000568640.1_Silent_p.P115P|NDRG4_ENST00000570248.1_Silent_p.P97P|NDRG4_ENST00000566192.1_Silent_p.P97P|NDRG4_ENST00000563799.1_Silent_p.P115P|NDRG4_ENST00000356752.4_Silent_p.P127P|NDRG4_ENST00000569923.1_Silent_p.P42P|NDRG4_ENST00000562999.1_Silent_p.P97P|NDRG4_ENST00000258187.5_Silent_p.P129P|NDRG4_ENST00000394279.2_Silent_p.P129P	NM_001130487.1	NP_001123959.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	97					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						CCATGCTCCCCAGCGTGGTGC	0.677000													29	55					0	0	1	0	0
WISP3	8838	broad.mit.edu	37	6	112375518	112375518	+	Silent	SNP	G	G	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:112375518G>T	ENST00000361714.1	+	1	57	c.12G>T	c.(10-12)cgG>cgT	p.R4R	WISP3_ENST00000368666.2_5'UTR|WISP3_ENST00000483439.1_3'UTR|WISP3_ENST00000604763.1_Intron|WISP3_ENST00000230529.5_Intron			O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3	0					cell-cell signaling|regulation of cell growth|signal transduction	extracellular region|soluble fraction	growth factor activity|insulin-like growth factor binding			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		TGAACAAGCGGCGACTTCTCT	0.597000													16	26					8.28177e-16	9.03246e-16	1	1	0
DOCK2	1794	broad.mit.edu	37	5	169507184	169507184	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr5:169507184G>A	ENST00000256935.8	+	50	5264	c.5184G>A	c.(5182-5184)gaG>gaA	p.E1728E	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Silent_p.E789E|DOCK2_ENST00000520908.1_Silent_p.E1220E	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1728					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGAAGCATGAGTTCATGAGTG	0.532000													7	32					0	0	1	0	0
NOL12	79159	broad.mit.edu	37	22	38087186	38087186	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr22:38087186C>G	ENST00000359114.4	+	6	555	c.485C>G	c.(484-486)tCc>tGc	p.S162C	NOL12_ENST00000493862.1_3'UTR	NM_024313.2	NP_077289.1	Q9UGY1	NOL12_HUMAN	nucleolar protein 12	162						nucleolus	rRNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	8	Melanoma(58;0.0574)					CCTAGGATCTCCTCCCTCACA	0.577000													3	32					0	0	1	0	0
TTBK2	146057	broad.mit.edu	37	15	43044889	43044889	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr15:43044889G>A	ENST00000267890.6	-	14	2663	c.2555C>T	c.(2554-2556)tCa>tTa	p.S852L		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	852					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		AGAAATTTCTGAAGTTCCAAC	0.373000													25	30					0	0	1	0	0
ETNPPL	64850	broad.mit.edu	37	4	109677623	109677623	+	Missense_Mutation	SNP	G	G	A	rs112469981		TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr4:109677623G>A	ENST00000296486.3	-	4	515	c.361C>T	c.(361-363)Cgc>Tgc	p.R121C	ETNPPL_ENST00000510706.1_Missense_Mutation_p.R81C|ETNPPL_ENST00000411864.2_Missense_Mutation_p.R115C|ETNPPL_ENST00000512646.1_Missense_Mutation_p.R63C	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2			ethanolamine-phosphate phospho-lyase																		CGAGCCAGGCGTAAGGCTAAG	0.448000													3	25					0	0	1	0	0
MTIF2	4528	broad.mit.edu	37	2	55476578	55476578	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:55476578C>T	ENST00000394600.3	-	10	1670	c.934G>A	c.(934-936)Gaa>Aaa	p.E312K	MTIF2_ENST00000403721.1_Missense_Mutation_p.E312K|MTIF2_ENST00000263629.4_Missense_Mutation_p.E312K	NM_001005369.1	NP_001005369.1	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	312	G-domain.				regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						CCATAATCTTCACATACCACA	0.433000													14	33					0	0	1	0	0
CRP	1401	broad.mit.edu	37	1	159683510	159683510	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:159683510G>A	ENST00000255030.5	-	2	583	c.480C>T	c.(478-480)ttC>ttT	p.F160F	CRP_ENST00000473196.1_5'UTR|CRP_ENST00000368112.1_Intron|CRP_ENST00000368110.1_Intron|CRP_ENST00000368111.1_Intron|CRP_ENST00000343919.2_Intron|CRP_ENST00000437342.1_5'UTR	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	160	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	AGTTCCCACCGAAGGAATCCT	0.517000													32	119					0	0	1	0	0
SP100	6672	broad.mit.edu	37	2	231405661	231405661	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:231405661C>A	ENST00000340126.4	+	26	2312	c.2281C>A	c.(2281-2283)Cat>Aat	p.H761N	AC010149.4_ENST00000455357.1_RNA|AC010149.4_ENST00000414539.1_RNA	NM_001080391.1	NP_001073860.1	P23497	SP100_HUMAN	SP100 nuclear antigen	505	Poly-Lys.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CCAATCAGGTCATCAGGAATC	0.488000													24	39					5.35356e-11	5.77132e-11	1	1	0
MXD4	10608	broad.mit.edu	37	4	2252408	2252408	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr4:2252408C>G	ENST00000337190.2	-	6	806	c.493G>C	c.(493-495)Gag>Cag	p.E165Q		NM_006454.2	NP_006445.1	Q14582	MAD4_HUMAN	MAX dimerization protein 4	165					negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						GGGCCAAACTCCATGCCCTCT	0.607000													7	13					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20994088	20994088	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr16:20994088T>C	ENST00000261383.3	-	49	7813	c.7814A>G	c.(7813-7815)aAc>aGc	p.N2605S	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2605	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TAGAAATTTGTTAGCCACCAA	0.468000													5	18					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81241228	81241228	+	RNA	SNP	A	A	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr16:81241228A>T	ENST00000337114.4	-	0	772				PKD1L2_ENST00000525539.1_RNA	NM_001076780.1	NP_001070248.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ACTGGACACCATCAGCTGCAG	0.443000													32	36					0	0	1	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62688006	62688006	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:62688006G>A	ENST00000281156.4	-	4	726	c.448C>T	c.(448-450)Cat>Tat	p.H150Y		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	p.H150Y(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TCCAATGCATGACTCATACGT	0.373000													8	30					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121652861	121652861	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:121652861C>G	ENST00000393386.2	+	12	4172	c.3761C>G	c.(3760-3762)tCt>tGt	p.S1254C	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1254					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CATATGCACTCTGCTTCACTT	0.388000													33	69					0	0	1	0	0
CCDC71	64925	broad.mit.edu	37	3	49201104	49201104	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:49201104C>G	ENST00000321895.6	-	2	644	c.538G>C	c.(538-540)Gag>Cag	p.E180Q		NM_022903.3	NP_075054.3	Q8IV32	CCD71_HUMAN	coiled-coil domain containing 71	180										endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ACCAGGGCCTCAAGGACAACA	0.587000													12	10					0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56244288	56244288	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:56244288C>G	ENST00000332836.2	-	2	936	c.909G>C	c.(907-909)aaG>aaC	p.K303N		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	303	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		AATACGACTTCTTTTCAGATT	0.388000													80	32					0	0	1	0	0
ETV6	2120	broad.mit.edu	37	12	12022873	12022873	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:12022873G>C	ENST00000396373.4	+	5	1253	c.979G>C	c.(979-981)Gag>Cag	p.E327Q		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	327						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CCCGCCTGAAGAGCACGCCAT	0.582000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""								30	23					0	0	1	0	0
TXNRD2	10587	broad.mit.edu	37	22	19870908	19870908	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr22:19870908C>T	ENST00000400519.1	-	12	1022	c.1023G>A	c.(1021-1023)ctG>ctA	p.L341L	TXNRD2_ENST00000400518.1_Silent_p.L312L|TXNRD2_ENST00000542719.1_Silent_p.L312L|TXNRD2_ENST00000400521.1_Silent_p.L342L|TXNRD2_ENST00000535882.1_Silent_p.L341L			Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	342					cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					GGGAGTCCACCAGGATCTTCT	0.617000													37	49					0	0	1	0	0
NAT9	26151	broad.mit.edu	37	17	72767986	72767986	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:72767986G>A	ENST00000357814.3	-	7	574	c.501C>T	c.(499-501)agC>agT	p.S167S	NAT9_ENST00000583757.1_Intron|NAT9_ENST00000581136.1_Silent_p.S162S|NAT9_ENST00000582870.1_Silent_p.S171S|NAT9_ENST00000578822.1_Silent_p.S172S|NAT9_ENST00000583476.1_3'UTR|NAT9_ENST00000582524.1_Intron|NAT9_ENST00000580301.1_Silent_p.S166S|NAT9_ENST00000580632.1_Silent_p.S167S	NM_015654.3	NP_056469.2	Q9BTE0	NAT9_HUMAN	N-acetyltransferase 9 (GCN5-related, putative)	167	N-acetyltransferase.					protein complex	N-acetyltransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)	8						GAAAAACACTGCTCGTAGCCA	0.557000													12	23					0	0	1	0	0
C12orf55	144535	broad.mit.edu	37	12	97051735	97051735	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:97051735C>G	ENST00000524981.4	+	37	5199	c.5176C>G	c.(5176-5178)Ctt>Gtt	p.L1726V						chromosome 12 open reading frame 55																		TGGTTCTAGTCTTACCTTTGA	0.353000													24	41					0	0	1	0	0
BZW2	28969	broad.mit.edu	37	7	16745684	16745684	+	Splice_Site	SNP	G	G	C			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:16745684G>C	ENST00000433922.2	+	12	1409		c.e12-1		BZW2_ENST00000258761.3_Splice_Site|AC073333.8_ENST00000418907.1_RNA|BZW2_ENST00000405202.1_Splice_Site|BZW2_ENST00000407633.1_Splice_Site	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2						cell differentiation|nervous system development|RNA metabolic process		protein binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		TTCTCTCCTAGAATCCGAATC	0.428000													14	40					0	0	1	0	0
AGL	178	broad.mit.edu	37	1	100349714	100349714	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:100349714G>C	ENST00000294724.4	+	18	2825	c.2347G>C	c.(2347-2349)Gag>Cag	p.E783Q	AGL_ENST00000370161.2_Missense_Mutation_p.E767Q|AGL_ENST00000370163.3_Missense_Mutation_p.E783Q|AGL_ENST00000361522.4_Missense_Mutation_p.E766Q|AGL_ENST00000361302.3_Missense_Mutation_p.E767Q|AGL_ENST00000370165.3_Missense_Mutation_p.E783Q|AGL_ENST00000361915.3_Missense_Mutation_p.E783Q	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	783					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TAGAACTATTGAGAGAAACAC	0.328000													25	45					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133219161	133219161	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:133219161C>G	ENST00000320574.5	-	37	4926	c.4883G>C	c.(4882-4884)gGa>gCa	p.G1628A	POLE_ENST00000535270.1_Missense_Mutation_p.G1601A	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1628					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GCGCCGGGCTCCATGGCGCTG	0.582000								DNA polymerases (catalytic subunits)					14	15					0	0	1	0	0
SFSWAP	6433	broad.mit.edu	37	12	132203998	132203998	+	Splice_Site	SNP	G	G	C			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:132203998G>C	ENST00000261674.4	+	4	661		c.e4-1		SFSWAP_ENST00000541286.1_Splice_Site	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot homolog (Drosophila)						mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						TTTTTATGCAGAAAAAAATGA	0.468000													16	20					0	0	1	0	0
OVGP1	5016	broad.mit.edu	37	1	111966266	111966266	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:111966266G>A	ENST00000369732.3	-	5	437	c.382C>T	c.(382-384)Ctg>Ttg	p.L128L	OVGP1_ENST00000540696.1_Silent_p.L68L	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	128					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		TGTGTCCTCAGAAGGGATATA	0.433000													30	40					0	0	1	0	0
CCDC110	256309	broad.mit.edu	37	4	186380089	186380089	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr4:186380089T>C	ENST00000307588.3	-	6	1727	c.1652A>G	c.(1651-1653)cAc>cGc	p.H551R	CCDC110_ENST00000393540.3_Missense_Mutation_p.H514R|CCDC110_ENST00000510617.1_Missense_Mutation_p.H551R	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	551						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TTGAGTTTTGTGTTCCTTACT	0.303000													10	29					0	0	1	0	0
COQ6	51004	broad.mit.edu	37	14	74428598	74428598	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr14:74428598C>G	ENST00000334571.2	+	11	1409	c.1369C>G	c.(1369-1371)Cca>Gca	p.P457A	COQ6_ENST00000394026.4_Missense_Mutation_p.P432A|ENTPD5_ENST00000557325.1_Intron|COQ6_ENST00000554920.1_Intron|COQ6_ENST00000238709.4_Missense_Mutation_p.P382A	NM_182476.2	NP_872282.1	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 monooxygenase	457					ubiquinone biosynthetic process	mitochondrion	flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(234;0.00337)		TGCAGTGTCTCCACTCAAAGT	0.463000													21	38					0	0	1	0	0
MXD4	10608	broad.mit.edu	37	4	2252892	2252892	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr4:2252892C>G	ENST00000337190.2	-	5	704	c.391G>C	c.(391-393)Gag>Cag	p.E131Q		NM_006454.2	NP_006445.1	Q14582	MAD4_HUMAN	MAX dimerization protein 4	131					negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						GACAGCTGCTCCAGGCGCCGC	0.677000													4	5					0	0	1	0	0
ACY1	95	broad.mit.edu	37	3	52019433	52019433	+	Silent	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:52019433C>G	ENST00000458031.2	+	6	717	c.486C>G	c.(484-486)ctC>ctG	p.L162L	ACY1_ENST00000476351.1_Silent_p.L37L|ACY1_ENST00000468068.1_3'UTR|ACY1_ENST00000494103.1_Silent_p.L72L|ACY1_ENST00000476854.1_Silent_p.L72L|ACY1_ENST00000404366.2_Silent_p.L72L|ABHD14A-ACY1_ENST00000463937.1_Silent_p.L173L			Q03154	ACY1_HUMAN	aminoacylase 1	72					cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	L-Aspartic Acid(DB00128)	ACCCTACACTCTCCTCCATCT	0.597000													7	15					0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19677543	19677543	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr20:19677543G>C	ENST00000328041.6	+	14	1791	c.1594G>C	c.(1594-1596)Gtg>Ctg	p.V532L	RP4-718D20.3_ENST00000609846.1_RNA	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	532						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CAGCCTCATTGTGGCCAGACA	0.607000													13	16					0	0	1	0	0
LRIT1	26103	broad.mit.edu	37	10	85992365	85992365	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:85992365G>C	ENST00000372105.3	-	4	1211	c.1190C>G	c.(1189-1191)tCt>tGt	p.S397C		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	397						integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GCTGGGCACAGAGGGTCCAGT	0.617000													11	15					0	0	1	0	0
EEFSEC	60678	broad.mit.edu	37	3	128126998	128126998	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:128126998G>A	ENST00000254730.6	+	7	1741	c.1687G>A	c.(1687-1689)Gag>Aag	p.E563K	EEFSEC_ENST00000483457.1_3'UTR	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	563						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						CACCAGGCAGGAGGAGAGCGC	0.642000													11	20					0	0	1	0	0
AC096579.13	0	broad.mit.edu	37	2	89156874	89156874	+	RNA	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:89156874C>G	ENST00000452230.1	-	0	39				IGKC_ENST00000390237.2_RNA|AC096579.7_ENST00000430694.1_RNA																							ACTTCTCCCTCTAACACTCTC	0.577000													22	22					0	0	1	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51918516	51918516	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:51918516C>G	ENST00000353836.5	-	7	1470	c.1249G>C	c.(1249-1251)Gtg>Ctg	p.V417L	SIGLEC10_ENST00000442846.3_Missense_Mutation_p.V269L|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.V334L|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.V327L|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.V417L|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.V359L|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.V369L|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.V417L|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.V359L	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	417	Ig-like C2-type 3.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		TCGTGCTCCACTTGAACCCGA	0.672000													17	70					0	0	1	0	0
STK33	65975	broad.mit.edu	37	11	8496434	8496434	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:8496434C>G	ENST00000447869.1	-	1	937	c.19G>C	c.(19-21)Gat>Cat	p.D7H	STK33_ENST00000396672.1_Missense_Mutation_p.D7H|STK33_ENST00000315204.1_Missense_Mutation_p.D7H|STK33_ENST00000358872.3_Intron|STK33_ENST00000396673.1_Missense_Mutation_p.D7H|STK33_ENST00000534493.1_Intron			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	7						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		GATTTTTTATCTAAGCCACTA	0.393000													23	41					0	0	1	0	0
MCCC1	56922	broad.mit.edu	37	3	182759419	182759419	+	Silent	SNP	T	T	C			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:182759419T>C	ENST00000492597.1	-	10	1578	c.876A>G	c.(874-876)ccA>ccG	p.P292P	MCCC1_ENST00000539926.1_Silent_p.P266P|MCCC1_ENST00000265594.4_Silent_p.P401P			Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	401	ATP-grasp.|Biotin carboxylation.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	GGTGCACTAATGGGCCTGCCA	0.458000													18	51					0	0	1	0	0
TAAR8	83551	broad.mit.edu	37	6	132874467	132874467	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:132874467G>C	ENST00000275200.1	+	1	636	c.636G>C	c.(634-636)atG>atC	p.M212I		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	212						plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		CCCTTGTTATGATAATTCTTT	0.328000													6	9					0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169214939	169214939	+	Splice_Site	SNP	T	T	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr4:169214939T>A	ENST00000393743.3	-	7	1172	c.881A>T	c.(880-882)cAg>cTg	p.Q294L		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	294							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AAACCACACCTGTTGGATCTC	0.358000													6	62					0	0	1	0	0
CPEB2	132864	broad.mit.edu	37	4	15018869	15018869	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr4:15018869G>T	ENST00000538197.1	+	4	2092	c.2092G>T	c.(2092-2094)Gat>Tat	p.D698Y	CPEB2_ENST00000345451.3_Missense_Mutation_p.D231Y|CPEB2_ENST00000541112.1_Missense_Mutation_p.D698Y|RP11-665G4.1_ENST00000502344.1_RNA|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000442003.2_Missense_Mutation_p.D671Y|CPEB2_ENST00000259997.5_Missense_Mutation_p.D261Y|CPEB2_ENST00000507071.1_Missense_Mutation_p.D261Y|CPEB2_ENST00000382395.3_Missense_Mutation_p.D231Y|CPEB2_ENST00000382401.3_Missense_Mutation_p.D234Y	NM_001177382.1	NP_001170853.1	Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2	261					regulation of translation	cytoplasm	nucleotide binding|RNA binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						TTCCCTTATCGATATTATGAG	0.308000													5	32					1.23904e-05	1.28023e-05	1	1	0
UBQLN2	29978	broad.mit.edu	37	X	56590882	56590882	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chrX:56590882G>C	ENST00000338222.5	+	1	857	c.576G>C	c.(574-576)caG>caC	p.Q192H		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	192						cytoplasm|nucleus|plasma membrane	binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						CCTTTGTTCAGAGCATGCTTT	0.478000													19	10					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207171818	207171818	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:207171818G>C	ENST00000374423.3	+	5	2952	c.2566G>C	c.(2566-2568)Gag>Cag	p.E856Q		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	856							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TCAGAAAGAAGAGTACATTCA	0.378000													3	33					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53578136	53578136	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chrX:53578136C>G	ENST00000342160.3	-	64	9568	c.9111G>C	c.(9109-9111)caG>caC	p.Q3037H	HUWE1_ENST00000262854.6_Missense_Mutation_p.Q3037H			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3037					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GCTCAGCTCTCTGCTGTGCCA	0.577000													11	7					0	0	1	0	0
TMTC2	160335	broad.mit.edu	37	12	83290111	83290111	+	Missense_Mutation	SNP	C	C	T	rs147409383		TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:83290111C>T	ENST00000549919.1	+	4	2956	c.1151C>T	c.(1150-1152)aCg>aTg	p.T384M	TMTC2_ENST00000321196.3_Missense_Mutation_p.T390M|TMTC2_ENST00000548305.1_Missense_Mutation_p.T390M			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	390						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						CTTCCTTCTACGGAGAACATT	0.413000													20	139					0	0	1	0	0
FERMT2	10979	broad.mit.edu	37	14	53342019	53342019	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr14:53342019G>C	ENST00000395631.2	-	8	1236	c.1020C>G	c.(1018-1020)gaC>gaG	p.D340E	FERMT2_ENST00000553373.1_Missense_Mutation_p.D340E|FERMT2_ENST00000341590.3_Missense_Mutation_p.D340E|FERMT2_ENST00000343279.4_Missense_Mutation_p.D340E|FERMT2_ENST00000399304.3_Missense_Mutation_p.D340E			Q96AC1	FERM2_HUMAN	fermitin family member 2	340	FERM.				actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					CAACTTCTTTGTCACTGTTGT	0.333000													32	47					0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19715873	19715873	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr21:19715873C>T	ENST00000284885.3	-	12	1411	c.1378G>A	c.(1378-1380)Gac>Aac	p.D460N		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	460	MAM.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TTCCAATTGTCTCCATAATTT	0.294000													28	52					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169511937	169511937	+	Silent	SNP	G	G	C	rs139113111		TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:169511937G>C	ENST00000367796.3	-	13	2607	c.2406C>G	c.(2404-2406)gcC>gcG	p.A802A	F5_ENST00000367797.3_Silent_p.A797A			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	797	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GGTGAGAAGGGGCTTTCTGAG	0.433000													26	53					0	0	1	0	0
SFPQ	6421	broad.mit.edu	37	1	35656103	35656103	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:35656103G>A	ENST00000357214.5	-	4	1509	c.1411C>T	c.(1411-1413)Caa>Taa	p.Q471*		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	471					alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|nucleotide binding|protein binding|RNA binding		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				TCTTACTTTTGATACATTGGA	0.308000			T	TFE3	papillary renal cell								9	16					0	0	1	0	0
MAPK8IP1	9479	broad.mit.edu	37	11	45924153	45924153	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:45924153G>A	ENST00000395629.2	+	5	1135	c.805G>A	c.(805-807)Gag>Aag	p.E269K	MAPK8IP1_ENST00000241014.2_Missense_Mutation_p.E279K			Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	279	JNK-binding domain (JBD).				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		AGAGGCCACTGAGGAGATCTA	0.682000													4	5					0	0	1	0	0
CCDC181	57821	broad.mit.edu	37	1	169394120	169394120	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:169394120C>T	ENST00000545005.1	-	3	553	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K	CCDC181_ENST00000367805.3_Missense_Mutation_p.E16K|CCDC181_ENST00000367806.3_Missense_Mutation_p.E16K|CCDC181_ENST00000491570.1_5'UTR					coiled-coil domain containing 181																		AAGTCATCTTCGTATTCTTCA	0.289000													9	30					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4051844	4051844	+	Silent	SNP	G	G	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:4051844G>T	ENST00000404826.2	+	16	2536	c.2397G>T	c.(2395-2397)ggG>ggT	p.G799G	SDK1_ENST00000389531.3_Silent_p.G799G	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	799	Fibronectin type-III 2.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGCACAACGGGGTGTTGCGTG	0.537000													34	67					1.04352e-10	1.1217e-10	1	1	0
PAH	5053	broad.mit.edu	37	12	103288533	103288533	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:103288533C>T	ENST00000553106.1	-	3	804	c.332G>A	c.(331-333)cGa>cAa	p.R111Q	PAH_ENST00000307000.2_Missense_Mutation_p.R106Q|PAH_ENST00000551988.1_5'UTR	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	111					catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	CTTCTTATCTCGTGAAAGCTC	0.383000													14	35					0	0	1	0	0
ZNF624	57547	broad.mit.edu	37	17	16527709	16527709	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16527709C>T	ENST00000311331.7	-	6	582	c.491G>A	c.(490-492)aGa>aAa	p.R164K		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CCCTTCCATTCTGGAATCCCA	0.393000													21	45					0	0	1	0	0
ZSWIM8	23053	broad.mit.edu	37	10	75548903	75548903	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:75548903G>A	ENST00000604729.1	+	3	709	c.412G>A	c.(412-414)Gat>Aat	p.D138N	ZSWIM8_ENST00000605216.1_Missense_Mutation_p.D138N|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.D138N|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.D138N|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.D138N					zinc finger, SWIM-type containing 8																		TCAGCGAGGGGATCAGCTCTT	0.567000													7	24					0	0	1	0	0
SLC22A12	116085	broad.mit.edu	37	11	64360266	64360266	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:64360266G>C	ENST00000377574.1	+	2	1165	c.418G>C	c.(418-420)Gac>Cac	p.D140H	SLC22A12_ENST00000336464.7_Missense_Mutation_p.D140H|SLC22A12_ENST00000473690.1_5'UTR|SLC22A12_ENST00000377567.2_Missense_Mutation_p.D140H|SLC22A12_ENST00000377572.1_Missense_Mutation_p.D140H	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	140					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						CCTCGTGTGTGACTCTCATGC	0.642000													10	47					0	0	1	0	0
NUTM2G	441457	broad.mit.edu	37	9	99697725	99697725	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr9:99697725G>A	ENST00000354649.3	+	3	1544	c.829G>A	c.(829-831)Gag>Aag	p.E277K	HIATL2_ENST00000506067.1_Intron|NUTM2G_ENST00000372322.3_Missense_Mutation_p.E277K	NM_001045477.2	NP_001038942.1			NUT family member 2G																		GATTTTCTACGAGATGGCGGC	0.652000													8	32					0	0	1	0	0
FAM65A	79567	broad.mit.edu	37	16	67574554	67574554	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr16:67574554G>C	ENST00000540839.3	+	11	1028	c.808G>C	c.(808-810)Gac>Cac	p.D270H	FAM65A_ENST00000428437.2_Missense_Mutation_p.D264H|FAM65A_ENST00000379312.3_Missense_Mutation_p.D254H|FAM65A_ENST00000042381.4_Missense_Mutation_p.D250H|FAM65A_ENST00000566522.1_3'UTR|FAM65A_ENST00000422602.2_Missense_Mutation_p.D270H			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	254						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GCAGGTGTGGGACAGTGAAGA	0.547000													30	43					0	0	1	0	0
RAB3GAP2	25782	broad.mit.edu	37	1	220364531	220364531	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:220364531G>A	ENST00000358951.2	-	14	1482	c.1366C>T	c.(1366-1368)Cag>Tag	p.Q456*		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	456					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CTTGGACCCTGAGAATTTCCA	0.478000													21	35					0	0	1	0	0
PGLYRP1	8993	broad.mit.edu	37	19	46522875	46522875	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:46522875G>A	ENST00000008938.4	-	2	361	c.318C>T	c.(316-318)taC>taT	p.Y106Y	CCDC61_ENST00000601763.1_Intron	NM_005091.2	NP_005082.1	O75594	PGRP1_HUMAN	peptidoglycan recognition protein 1	106					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region	bacterial cell surface binding|N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	10		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		CACGGCCCTCGTATACGAGCC	0.587000													4	15					0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233489599	233489599	+	Missense_Mutation	SNP	C	C	T	rs145103476		TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:233489599C>T	ENST00000366624.3	+	3	1294	c.1033C>T	c.(1033-1035)Cgg>Tgg	p.R345W	MLK4_ENST00000366623.3_Missense_Mutation_p.R345W	NM_032435.2	NP_115811.2																					AGTCCCCTATCGGGGCATTGA	0.507000													21	42					0	0	1	0	0
HMGA1	3159	broad.mit.edu	37	6	34208621	34208621	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:34208621G>C	ENST00000447654.1	+	2	553	c.64G>C	c.(64-66)Gag>Cag	p.E22Q	HMGA1_ENST00000347617.6_Missense_Mutation_p.E22Q|HMGA1_ENST00000374116.3_Missense_Mutation_p.E22Q|HMGA1_ENST00000401473.3_Missense_Mutation_p.E22Q|HMGA1_ENST00000395004.3_Missense_Mutation_p.E22Q|HMGA1_ENST00000311487.5_Missense_Mutation_p.E22Q|HMGA1_ENST00000478214.1_3'UTR	NM_145901.2|NM_145902.2	NP_665908.1|NP_665909.1	P17096	HMGA1_HUMAN	high mobility group AT-hook 1	22					DNA unwinding involved in replication|initiation of viral infection|interspecies interaction between organisms|loss of chromatin silencing|nucleosome disassembly|protein complex assembly|provirus integration	chromatin|cytosol|transcription factor complex	AT DNA binding|enzyme binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|protein binding|retinoid X receptor binding|sequence-specific DNA binding transcription factor activity			lung(1)	1						GGACGGCACTGAGAAGCGGGG	0.622000			T	?	"""microfollicular thyroid adenoma,  various benign mesenchymal tumors,"""								3	16					0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92734156	92734156	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:92734156T>C	ENST00000379958.2	-	3	1524	c.1255A>G	c.(1255-1257)Aaa>Gaa	p.K419E		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	419						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GGGTGGCATTTATTTGTTACA	0.328000													20	25					0	0	1	0	0
SGSM3	27352	broad.mit.edu	37	22	40805755	40805755	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr22:40805755G>T	ENST00000248929.9	+	22	2431	c.2242G>T	c.(2242-2244)Gac>Tac	p.D748Y		NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	748					cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						CTGGGATGTGGACGGGTGACC	0.677000													16	41					2.23348e-06	2.32707e-06	1	1	0
FLG	2312	broad.mit.edu	37	1	152277865	152277865	+	Missense_Mutation	SNP	C	C	T	rs145566935		TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:152277865C>T	ENST00000368799.1	-	3	9532	c.9497G>A	c.(9496-9498)cGt>cAt	p.R3166H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3166	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCTCATTACGTGTTGTTCT	0.552000									Ichthyosis				56	165					0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33575921	33575921	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr20:33575921C>G	ENST00000262873.7	+	17	1661	c.1569C>G	c.(1567-1569)atC>atG	p.I523M		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	481	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity	p.I523M(1)|p.I523I(1)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AGCTGTGCATCAACTTCACCA	0.562000													36	30					0	0	1	0	0
SUGP1	57794	broad.mit.edu	37	19	19420983	19420983	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:19420983C>A	ENST00000247001.5	-	3	580	c.233G>T	c.(232-234)tGc>tTc	p.C78F	SUGP1_ENST00000585763.1_5'UTR|SUGP1_ENST00000334782.5_Missense_Mutation_p.C78F	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	78					nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						GTTGGAAATGCAGGAAGAGTT	0.517000													12	41					9.31168e-06	9.64793e-06	1	1	0
FREM2	341640	broad.mit.edu	37	13	39425946	39425946	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr13:39425946G>C	ENST00000280481.7	+	11	7082	c.6866G>C	c.(6865-6867)aGa>aCa	p.R2289T		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2289	Calx-beta 5.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TCCATTGTGAGAGTCCACACC	0.512000													19	36					0	0	1	0	0
ADRA1A	148	broad.mit.edu	37	8	26722121	26722121	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:26722121G>C	ENST00000380573.3	-	2	1389	c.366C>G	c.(364-366)atC>atG	p.I122M	ADRA1A_ENST00000380587.1_Missense_Mutation_p.I122M|ADRA1A_ENST00000380572.3_Missense_Mutation_p.I122M|ADRA1A_ENST00000358857.5_Missense_Mutation_p.I122M|ADRA1A_ENST00000380582.3_Missense_Mutation_p.I122M|ADRA1A_ENST00000519229.1_Missense_Mutation_p.I122M|ADRA1A_ENST00000354550.4_Missense_Mutation_p.I122M|ADRA1A_ENST00000380581.2_Missense_Mutation_p.I122M|ADRA1A_ENST00000380586.1_Missense_Mutation_p.I122M|ADRA1A_ENST00000276393.4_Missense_Mutation_p.I122M			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	122					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	TGTAGCGGTCGATGGAGATGA	0.627000													7	24					0	0	1	0	0
FANCE	2178	broad.mit.edu	37	6	35423591	35423591	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:35423591C>T	ENST00000229769.2	+	2	501	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	106					DNA repair	nucleoplasm	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						GATGGCCGTTCGGCCATCGCT	0.607000			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				10	31					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133218793	133218793	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:133218793C>T	ENST00000320574.5	-	38	5186	c.5143G>A	c.(5143-5145)Gag>Aag	p.E1715K	POLE_ENST00000535270.1_Missense_Mutation_p.E1688K	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1715					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CTGTTGATCTCAACAGTGGCT	0.557000								DNA polymerases (catalytic subunits)					28	36					0	0	1	0	0
LIPJ	142910	broad.mit.edu	37	10	90356170	90356170	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:90356170C>T	ENST00000371939.3	+	7	887	c.573C>T	c.(571-573)gtC>gtT	p.V191V		NM_001010939.2	NP_001010939.2	Q5W064	LIPJ_HUMAN	lipase, family member J	191					lipid catabolic process		hydrolase activity			large_intestine(4)|lung(4)|ovary(1)	9		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)		AGTCAATAGTCATGGTATGTT	0.294000													13	81					0	0	1	0	0
PNLIPRP3	119548	broad.mit.edu	37	10	118236306	118236306	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:118236306A>C	ENST00000369230.3	+	11	1461	c.1315A>C	c.(1315-1317)Aat>Cat	p.N439H		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	439	PLAT.				lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		AATGGTGATAAATACATCTGG	0.308000													15	32					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22940978	22940978	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:22940978G>A	ENST00000397104.3	-	5	1459	c.1460C>T	c.(1459-1461)tCa>tTa	p.S487L	ZNF99_ENST00000596209.1_Missense_Mutation_p.S578L					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AGTAAGATGTGAAGATTGCTT	0.358000													12	60					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82546033	82546033	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:82546033T>C	ENST00000333891.9	-	7	11606	c.11269A>G	c.(11269-11271)Atg>Gtg	p.M3757V	PCLO_ENST00000423517.2_Missense_Mutation_p.M3757V|PCLO_ENST00000437081.1_Missense_Mutation_p.M477V	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCTCGTGCCATTGTGTTGGTT	0.473000													10	27					0	0	1	0	0
MT1H	4496	broad.mit.edu	37	16	56703818	56703818	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr16:56703818G>A	ENST00000569155.1	+	1	67	c.22G>A	c.(22-24)Gag>Aag	p.E8K	MT1H_ENST00000332374.4_Missense_Mutation_p.E8K			P80294	MT1H_HUMAN	metallothionein 1H	8	Beta.						metal ion binding|protein binding			lung(5)	5						CTGCTCCTGCGAGGCTGGTAA	0.567000													21	53					0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42368155	42368155	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr14:42368155G>A	ENST00000298119.4	+	5	3323	c.2134G>A	c.(2134-2136)Gaa>Aaa	p.E712K	LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_3'UTR	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	712						integral to membrane		p.E712*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GATTGTCCAGGAAACACAGGT	0.279000										HNSCC(30;0.082)			22	27					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11039331	11039331	+	RNA	SNP	C	C	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr21:11039331C>A	ENST00000470054.1	-	0	872									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATTTTATCTTCAATTTGATCT	0.378000													9	158					6.40141e-05	6.59593e-05	1	1	0
STEAP4	79689	broad.mit.edu	37	7	87913437	87913437	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:87913437G>A	ENST00000380079.4	-	2	249	c.148C>T	c.(148-150)Cga>Tga	p.R50*	AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000447758.1_RNA|STEAP4_ENST00000301959.5_Nonsense_Mutation_p.R50*|STEAP4_ENST00000414498.1_Nonsense_Mutation_p.R50*	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	50					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					TGGGGGTTTCGACTTCCAAAA	0.438000													24	41					0	0	1	0	0
JAK3	3718	broad.mit.edu	37	19	17953857	17953857	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:17953857C>T	ENST00000458235.1	-	5	644	c.545G>A	c.(544-546)gGa>gAa	p.G182E	JAK3_ENST00000527670.1_Missense_Mutation_p.G182E|JAK3_ENST00000534444.1_Missense_Mutation_p.G182E|JAK3_ENST00000526008.1_5'UTR	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	182	FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						CAGCAGCTCTCCCGGCCGCTG	0.687000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								8	12					0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45633580	45633580	+	Splice_Site	SNP	G	G	C			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr20:45633580G>C	ENST00000327619.5	+	4	529		c.e4-1		EYA2_ENST00000317304.6_Splice_Site|EYA2_ENST00000357410.3_Splice_Site	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)						DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				TTTCCACACAGATCTTGCCCA	0.552000													41	23					0	0	1	0	0
DAGLA	747	broad.mit.edu	37	11	61487650	61487650	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:61487650G>A	ENST00000257215.5	+	2	139	c.23G>A	c.(22-24)cGg>cAg	p.R8Q		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	8					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GTGGTGTTCCGGCGGCGCTGG	0.632000													7	16					0	0	1	0	0
PANK4	55229	broad.mit.edu	37	1	2442162	2442162	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:2442162C>A	ENST00000378466.3	-	16	1905	c.1893G>T	c.(1891-1893)ttG>ttT	p.L631F	PANK4_ENST00000435556.3_Missense_Mutation_p.L592F	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	631					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GGAAGACTCCCAAAATGATGT	0.532000													3	54					0.115264	0.115574	1	1	0
DNAH8	1769	broad.mit.edu	37	6	38790801	38790801	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:38790801G>A	ENST00000359357.3	+	25	3314	c.3060G>A	c.(3058-3060)gtG>gtA	p.V1020V	DNAH8_ENST00000441566.1_Silent_p.V1020V|DNAH8_ENST00000449981.2_Silent_p.V1237V					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACCGCGATGTGAAAGTGAAGG	0.453000													12	19					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152276031	152276031	+	Silent	SNP	C	C	T	rs147295587	by1000genomes	TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:152276031C>T	ENST00000368799.1	-	3	11366	c.11331G>A	c.(11329-11331)tcG>tcA	p.S3777S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3777	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCTATCTACCGATTGCTCGT	0.587000									Ichthyosis				81	222					0	0	1	0	0
ACTB	60	broad.mit.edu	37	7	5568242	5568242	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:5568242C>T	ENST00000331789.5	-	4	663	c.472G>A	c.(472-474)Ggg>Agg	p.G158R		NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	158					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		TGGGTGACCCCGTCACCGGAG	0.607000													28	50					0	0	1	0	0
RPGR	6103	broad.mit.edu	37	X	38147249	38147249	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chrX:38147249C>G	ENST00000378505.2	-	14	1794	c.1618G>C	c.(1618-1620)Gaa>Caa	p.E540Q	RPGR_ENST00000338898.3_3'UTR|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000342811.3_Missense_Mutation_p.E540Q|RPGR_ENST00000318842.7_Missense_Mutation_p.E540Q|RPGR_ENST00000309513.3_Missense_Mutation_p.E478Q|RPGR_ENST00000339363.3_Missense_Mutation_p.E540Q	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	540	Glu-rich.				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						TCATCGTTTTCAGTAAGAGCT	0.358000													31	13					0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46043250	46043250	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr4:46043250C>A	ENST00000295452.4	-	9	1320	c.1153G>T	c.(1153-1155)Gga>Tga	p.G385*		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	385					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		AGAGTGGATCCAGGATGGAGA	0.388000													3	31					0.00024832	0.000253763	1	1	0
ADAM30	11085	broad.mit.edu	37	1	120437228	120437228	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:120437228G>C	ENST00000369400.1	-	1	1890	c.1732C>G	c.(1732-1734)Cat>Gat	p.H578D		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	578	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		GCCTGTAAATGAGTAGAAATT	0.408000													34	51					0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211473145	211473145	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:211473145G>C	ENST00000233072.5	+	19	2449	c.2253G>C	c.(2251-2253)aaG>aaC	p.K751N	CPS1_ENST00000430249.2_Missense_Mutation_p.K757N|CPS1_ENST00000451903.2_Missense_Mutation_p.K300N	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	751					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CAGAAATTAAGAACGTCGTAT	0.423000													28	39					0	0	1	0	0
TXNIP	10628	broad.mit.edu	37	1	145440778	145440779	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:145440778_145440779insA	ENST00000369317.4	+	6	1312_1313	c.978_979insA	c.(979-981)accfs	p.T327fs	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	327					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACATCCCTGATACCCCAGAAGG	0.480													12	56	---	---	---	---					
PCDH10	57575	broad.mit.edu	37	4	134072435	134072435	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr4:134072435delC	ENST00000264360.5	+	1	1966	c.1140delC	c.(1138-1140)ttcfs	p.F380fs		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10		Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TGGCCCTTTTCAGCGTGACTG	0.577													7	44	---	---	---	---					
NEIL3	55247	broad.mit.edu	37	4	178272654	178272665	+	In_Frame_Del	DEL	TAAGCCCTCTTC	TAAGCCCTCTTC	-			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr4:178272654_178272665delTAAGCCCTCTTC	ENST00000264596.3	+	7	1108_1119	c.990_1001delTAAGCCCTCTTC	c.(988-1002)aataagccctcttct>aat	p.KPSS331del	RP11-376O6.2_ENST00000506895.1_RNA	NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	331					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		CTTTAATCAATAAGCCCTCTTCTAAGGCATGT	0.420								Base excision repair (BER), DNA glycosylases					10	120	---	---	---	---					
SGK223	157285	broad.mit.edu	37	8	8234868	8234869	+	In_Frame_Ins	INS	-	-	GCCGCT	rs59372311	by1000genomes	TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:8234868_8234869insGCCGCT	ENST00000520004.1	-	3	1314_1315	c.1050_1051insAGCGGC	c.(1048-1053)ggcgcc>ggcAGCGGCgcc	p.349_350insGS	SGK223_ENST00000330777.4_In_Frame_Ins_p.349_350insGS			Q86YV5	SG223_HUMAN		349							ATP binding|non-membrane spanning protein tyrosine kinase activity	p.G350_A351insSG(1)|p.G350_S351insSG(1)									GGGCTACTGGCGCCGCTGCCGC	0.653													3	2	---	---	---	---					
PPP1R3C	5507	broad.mit.edu	37	10	93390301	93390311	+	Frame_Shift_Del	DEL	GCAGATCCCAC	GCAGATCCCAC	-			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:93390301_93390311delGCAGATCCCAC	ENST00000238994.5	-	2	411_421	c.327_337delGTGGGATCTGC	c.(325-339)gcgtgggatctgcagfs	p.WDLQ110fs		NM_005398.5	NP_005389.1	Q9UQK1	PPR3C_HUMAN	protein phosphatase 1, regulatory subunit 3C	110							protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				AGATCAAACTGCAGATCCCACGCTGGTTCTT	0.483													19	37	---	---	---	---					
NLRP6	171389	broad.mit.edu	37	11	280163	280163	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:280163delC	ENST00000534750.1	+	4	634	c.429delC	c.(427-429)atcfs	p.I143fs	NLRP6_ENST00000312165.5_Frame_Shift_Del_p.I143fs	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	143						cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CCGTGAAGATCACCAAGCGCT	0.697													2	4	---	---	---	---					
LRRIQ1	84125	broad.mit.edu	37	12	85438589	85438590	+	Splice_Site	DEL	TA	TA	-			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:85438589_85438590delTA	ENST00000393217.2	+	4	397		c.e4+2			NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TTAATTAAGGTATATATTCAAT	0.272													23	24	---	---	---	---					
FAM174B	400451	broad.mit.edu	37	15	93198679	93198684	+	In_Frame_Del	DEL	TGGAGC	TGGAGC	-	rs66488707		TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr15:93198679_93198684delTGGAGC	ENST00000327355.5	-	1	504_509	c.206_211delGCTCCA	c.(205-213)agctccaac>aac	p.SS69del		NM_207446.2	NP_997329.2	Q3ZCQ3	F174B_HUMAN	family with sequence similarity 174, member B	69						integral to membrane				endometrium(2)|lung(1)	3						CCACTGCTGTTGGAGCTGGAGCTGCC	0.714													5	1	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7579315	7579316	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:7579315_7579316insC	ENST00000420246.2	-	4	503_504	c.371_372insG	c.(370-372)tgcfs	p.C124fs	TP53_ENST00000445888.2_Frame_Shift_Ins_p.C124fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.C124fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.C124fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.C124fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.C124fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	124	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> G (in a sporadic cancer; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in a sporadic cancer; somatic mutation).|C -> Y (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.C124*(3)|p.G59fs*23(3)|p.C124fs*1(1)|p.V73fs*9(1)|p.T123fs*24(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.T125fs*24(1)|p.C124S(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.C124Y(1)|p.C124fs*25(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AACTGACCGTGCAAGTCACAGA	0.545		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			31	14	---	---	---	---					
ZNF624	57547	broad.mit.edu	37	17	16527443	16527444	+	Frame_Shift_Ins	INS	-	-	T	rs146366930		TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16527443_16527444insT	ENST00000311331.7	-	6	847_848	c.756_757insA	c.(754-759)aaaggcfs	p.G253fs		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GCTTTGCTGCCTTTCATCTCCT	0.376													76	76	---	---	---	---					
GOLGA2P9	440518	broad.mit.edu	37	19	22785482	22785482	+	RNA	DEL	G	G	-			TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:22785482delG	ENST00000600260.1	+	0	1571					NR_033899.1																						GCTGCATCCAGCTCTCTGGAG	0.607													29	48	---	---	---	---					
KDM6A	7403	broad.mit.edu	37	X	44950105	44950111	+	Splice_Site	DEL	ATTAAGT	ATTAAGT	-	rs148188315		TCGA-DK-A1A6-06A-11D-A42E-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ca9ccad-2c41-4778-b8c5-fb3a12b39bb7	fcdb086f-6e88-49ce-a202-b611584a080c	g.chrX:44950105_44950111delATTAAGT	ENST00000377967.4	+	26	3915_3919	c.3874_3878delATTAAGT	c.(3874-3879)attaag>g	p.IK1292fs	KDM6A_ENST00000543216.1_Splice_Site_p.IK1213fs|KDM6A_ENST00000382899.4_Splice_Site_p.IK1299fs|KDM6A_ENST00000536777.1_Splice_Site_p.IK1247fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1292					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TTTTGAAATGATTAAGTAAGTCTTTTC	0.353			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								24	22	---	---	---	---