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
ITIH4	3700	broad.mit.edu	37	3	52857696	52857696	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr3:52857696T>C	ENST00000266041.4	-	11	1511	c.1415A>G	c.(1414-1416)aAt>aGt	p.N472S	ITIH4_ENST00000467462.1_5'UTR|ITIH4_ENST00000434759.3_Missense_Mutation_p.N384S|RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000485816.1_Missense_Mutation_p.N472S|ITIH4_ENST00000406595.1_Missense_Mutation_p.N472S|ITIH4_ENST00000346281.5_Missense_Mutation_p.N472S	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	472					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CTCCACGGCATTGCTTGGGTA	0.582													11	73	---	---	---	---
PEX5L	51555	broad.mit.edu	37	3	179529651	179529651	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr3:179529651C>A	ENST00000467460.1	-	11	1422	c.1092G>T	c.(1090-1092)caG>caT	p.Q364H	PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000468741.1_Missense_Mutation_p.Q172H|PEX5L_ENST00000392649.3_Missense_Mutation_p.Q256H|PEX5L_ENST00000476138.1_Missense_Mutation_p.Q321H|PEX5L_ENST00000485199.1_Missense_Mutation_p.Q329H|PEX5L_ENST00000263962.8_Missense_Mutation_p.Q362H|PEX5L_ENST00000472994.1_Missense_Mutation_p.Q305H|PEX5L_ENST00000464614.1_Missense_Mutation_p.Q256H|PEX5L_ENST00000465751.1_Missense_Mutation_p.Q340H	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	364					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TCCCGAGGAACTGCCATGCCT	0.468													9	65	---	---	---	---
CRIPAK	285464	broad.mit.edu	37	4	1389214	1389214	+	Silent	SNP	C	C	T	rs71299249		TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr4:1389214C>T	ENST00000324803.4	+	1	3875	c.915C>T	c.(913-915)tgC>tgT	p.C305C		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	305					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CTCACACGTGCCGACGTGGAG	0.662													5	228	---	---	---	---
MTTP	4547	broad.mit.edu	37	4	100543849	100543849	+	Silent	SNP	G	G	A			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr4:100543849G>A	ENST00000457717.1	+	19	2785	c.2529G>A	c.(2527-2529)aaG>aaA	p.K843K	RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000265517.5_Silent_p.K843K|MTTP_ENST00000511045.1_Silent_p.K870K	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	843					lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	TTGAGAAAAAGTACGAAAGGC	0.418													13	46	---	---	---	---
PCDHA12	56137	broad.mit.edu	37	5	140257255	140257255	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr5:140257255C>T	ENST00000398631.2	+	1	2198	c.2198C>T	c.(2197-2199)gCg>gTg	p.A733V	PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCGGTGCGCGCCGGGCAAG	0.677													8	24	---	---	---	---
PCDHB12	56124	broad.mit.edu	37	5	140590067	140590067	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr5:140590067C>T	ENST00000239450.2	+	1	1777	c.1588C>T	c.(1588-1590)Cgc>Tgc	p.R530C	PCDHB12_ENST00000541609.1_Missense_Mutation_p.R193C	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		530	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTCCAGTTCCGCGTGGGCGC	0.677													22	59	---	---	---	---
CACNA2D1	781	broad.mit.edu	37	7	81667507	81667507	+	Silent	SNP	G	G	A			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr7:81667507G>A	ENST00000356860.3	-	11	1262	c.924C>T	c.(922-924)gtC>gtT	p.V308V	CACNA2D1_ENST00000356253.5_Silent_p.V308V	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	308	VWFA.					voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CATTTGCTTGGACAAGGTGCT	0.313													4	86	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100680623	100680623	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr7:100680623C>T	ENST00000306151.4	+	3	5990	c.5926C>T	c.(5926-5928)Cca>Tca	p.P1976S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1976	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACCAGCATGCCAACCCCAGC	0.498													6	362	---	---	---	---
PPP1R3A	5506	broad.mit.edu	37	7	113519011	113519011	+	Silent	SNP	T	T	C			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr7:113519011T>C	ENST00000284601.3	-	4	2204	c.2136A>G	c.(2134-2136)gaA>gaG	p.E712E		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	712					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GAGAAGACAGTTCACAGCACA	0.403													24	156	---	---	---	---
ADCK2	90956	broad.mit.edu	37	7	140373323	140373323	+	Silent	SNP	C	C	T			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr7:140373323C>T	ENST00000072869.4	+	1	371	c.193C>T	c.(193-195)Ctg>Ttg	p.L65L	ADCK2_ENST00000476491.1_Silent_p.L65L	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	65						integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					CCCTGACGTTCTGAGTCGGCG	0.726													4	16	---	---	---	---
CNTNAP2	26047	broad.mit.edu	37	7	146829413	146829413	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr7:146829413C>T	ENST00000361727.3	+	8	1676	c.1160C>T	c.(1159-1161)cCc>cTc	p.P387L		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	387					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTGGAGGTGCCCGGACGGCTT	0.478										HNSCC(39;0.1)			27	82	---	---	---	---
OR51L1	119682	broad.mit.edu	37	11	5020428	5020428	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr11:5020428C>A	ENST00000321543.1	+	1	216	c.216C>A	c.(214-216)gaC>gaA	p.D72E		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGTGAATGACCTGGGGATGT	0.453													4	148	---	---	---	---
MPHOSPH9	10198	broad.mit.edu	37	12	123661278	123661278	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr12:123661278G>A	ENST00000606320.1	-	16	2619	c.2413C>T	c.(2413-2415)Ctt>Ttt	p.L805F	MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.L653F|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.L653F|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.L775F			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	653					M phase of mitotic cell cycle	centriole|Golgi membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		TTATGACGAAGGCTTAACATA	0.323													8	66	---	---	---	---
FBN3	84467	broad.mit.edu	37	19	8137034	8137034	+	Silent	SNP	C	C	T	rs144060152	byFrequency	TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr19:8137034C>T	ENST00000600128.1	-	63	8400	c.7986G>A	c.(7984-7986)ccG>ccA	p.P2662P	FBN3_ENST00000270509.2_Silent_p.P2662P|FBN3_ENST00000601739.1_Silent_p.P2662P			Q75N90	FBN3_HUMAN	fibrillin 3	2662						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCTCTTTGTCCGGGGTGTCCT	0.667													10	116	---	---	---	---
TMPRSS2	7113	broad.mit.edu	37	21	42866285	42866285	+	Nonsense_Mutation	SNP	G	G	C			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr21:42866285G>C	ENST00000398585.3	-	3	407	c.347C>G	c.(346-348)tCa>tGa	p.S116*	TMPRSS2_ENST00000497881.1_Intron|TMPRSS2_ENST00000458356.1_Nonsense_Mutation_p.S79*|TMPRSS2_ENST00000332149.5_Nonsense_Mutation_p.S79*	NM_001135099.1	NP_001128571.1	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	79	LDL-receptor class A.				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				AATCCTACTTGAGGTGCACAC	0.617			T	"""ERG, ETV1, ETV4, ETV5"""	prostate								3	18	---	---	---	---
AKAP17A	8227	broad.mit.edu	37	X	1712837	1712837	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chrX:1712837T>A	ENST00000313871.3	+	2	678	c.482T>A	c.(481-483)cTg>cAg	p.L161Q	AKAP17A_ENST00000381261.3_Missense_Mutation_p.L161Q	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	161	RRM.				B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						TGGTTCGCCCTGAAGGAGTCG	0.642													23	117	---	---	---	---
