Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CYP4F11_chr19_15907377_15939529	15933003	A A	AGGAGAGG others(173): Show AGGAGAGGAGTGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCG AGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAA TGAGTGAGCGGGGAGAGGAATGAGTGAGCGG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0044 a0003c0003t0044	a0003c0003t0044g0099 a0003c0003t0044g0099	1	386	0.0026	180	c.198 others(197): Show c.198+1207_198+1208insCCGCTCACTCATTCCTCTCCCCGCTCAC TCATTCCTCTCCTCGCTCACTCATTCCTCTCCTCGCTCACTCATTCCTCT CCTCGCTCACTCATTCCTCTCCTCACTCACTCATTCTTCTCCTCACTCAC TCATTCCTCTCCTCACTCACTCATTCTTCTCCTCACTCACTCACTCCTCT CC		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933003	A A	AGGAGAGG others(173): Show AGGAGAGGAGTGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTG AGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAA TGAGTGAGCGGGGAGAGGAATGAGTGAGCGG	intron_variant intron_variant	MODIFIER	HG01256.hp1 NA19030.hp1 HG01256.hp1 NA19030.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0038 a0003c0003t0047 a0003c0003t0038 a0003c0003t0047	a0003c0003t0038g0102 a0003c0003t0047g0117 a0003c0003t0038g0102 a0003c0003t0047g0117	2	386	0.0052	180	c.198 others(197): Show c.198+1207_198+1208insCCGCTCACTCATTCCTCTCCCCGCTCAC TCATTCCTCTCCTCGCTCACTCATTCCTCTCCTCGCTCACTCATTCCTCT CCTCACTCACTCATTCCTCTCCTCACTCACTCATTCTTCTCCTCACTCAC TCATTCCTCTCCTCACTCACTCATTCTTCTCCTCACTCACTCACTCCTCT CC		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933003	A A	AGGAGAGG others(173): Show AGGAGAGGAGTGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTG AGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGAGGAA TGAGTGAGCGGGGAGAGGAATGAGTGAGCGG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01516.hp1 HG03453.hp2 others(2): Show HG00280.hp2 HG01516.hp1 HG03453.hp2 HG03486.hp1 NA20805.hp1	a0003 a0006 a0003 a0006	a0003c0003 a0006c0009 a0003c0003 a0006c0009	a0003c0003t0046 a0003c0003t0060 a0003c0003t0189 others(2): Show a0003c0003t0046 a0003c0003t0060 a0003c0003t0189 a0006c0009t0012 a0006c0009t0122	a0003c0003t0046g0092 a0003c0003t0060g0111 a0003c0003t0189g0109 others(2): Show a0003c0003t0046g0092 a0003c0003t0060g0111 a0003c0003t0189g0109 a0006c0009t0012g0112 a0006c0009t0122g0113	5	386	0.0130	180	c.198 others(197): Show c.198+1207_198+1208insCCGCTCACTCATTCCTCTCCCCGCTCAC TCATTCCTCTCCTCGCTCACTCATTCCTCTCCTCACTCACTCATTCCTCT CCTCACTCACTCATTCCTCTCCTCACTCACTCATTCTTCTCCTCACTCAC TCATTCCTCTCCTCACTCACTCATTCTTCTCCTCACTCACTCACTCCTCT CC		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933205	G G	GAGAGGAG others(173): Show GAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTG AGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGG GAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTG AGTGAGCGGGCAGAGGAGTGAGTGAGCGGGC	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0086 a0002c0001t0086	a0002c0001t0086g0172 a0002c0001t0086g0172	1	386	0.0026	180	c.198 others(197): Show c.198+1005_198+1006insGCCCGCTCACTCACTCCTCTGCCCGCTC ACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCT CTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTC ACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCT CT		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933465	G G	GAGAGGAG others(173): Show GAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGAGGAGAGGAGTG AGTGAGCGAGCAGAGGAGTGAGTGAGCGAGCAGAGGAGTGAGTGAGCGGG CAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATG AGTGAGCGGGCAGAGGAATGAGTGAGCGGGC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0012 a0012	a0012c0023 a0012c0023	a0012c0023t0120 a0012c0023t0120	a0012c0023t0120g0381 a0012c0023t0120g0381	1	386	0.0026	180	c.198 others(195): Show c.198+745_198+746insGCCCGCTCACTCATTCCTCTGCCCGCTCAC TCATTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCT GCCCGCTCACTCACTCCTCTGCTCGCTCACTCACTCCTCTGCTCGCTCAC TCACTCCTCTCCTCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCT		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933952	A A	ATGAGTGA others(173): Show ATGAGTGAGCGAGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGC GGGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGGGGAGAGGA ATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGC GAGGAGAAGAATGAGTGAGCGAGGAGAGGAG	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0140 a0001c0002t0140	a0001c0002t0140g0255 a0001c0002t0140g0255	1	386	0.0026	180	c.198 others(195): Show c.198+258_198+259insCTCCTCTCCTCGCTCACTCATTCTTCTCCT CGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCA TTCCTCTCCCCGCTCACTCATTCCTCTCCTCGCTCACTCATTCCTCTCCC CGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCTCGCTCACTCA		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933981	C C	CGGGGAGA others(173): Show CGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGAGGAGAGG AATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAG CGGGGAGAGGAATGAGTGAGCGAGGAGAAGAATGAGTGAGCGAGGAGAGG AGTGAGTGAGCGGGGAGAGGAATGAGTGAGT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0279 a0001c0002t0016g0279	1	386	0.0026	180	c.198 others(195): Show c.198+229_198+230insACTCACTCATTCCTCTCCCCGCTCACTCAC TCCTCTCCTCGCTCACTCATTCTTCTCCTCGCTCACTCATTCCTCTCCCC GCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCAT TCCTCTCCTCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCC		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933981	C C	CGGGGAGA others(173): Show CGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGG AATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAG CGGGGAGAGGAATGAGTGAGCGAGGAGAAGAATGAGTGAGCGAGGAGAGG AGTGAGTGAGCGGGGAGAGGAATGAGTGAGT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0118 a0001c0002t0118	a0001c0002t0118g0240 a0001c0002t0118g0240	1	386	0.0026	180	c.198 others(195): Show c.198+229_198+230insACTCACTCATTCCTCTCCCCGCTCACTCAC TCCTCTCCTCGCTCACTCATTCTTCTCCTCGCTCACTCATTCCTCTCCCC GCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCAT TCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCC		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
DAB2IP_chr9_121646634_121790530	121653156	C C	CAGTACTA others(173): Show CAGTACTAAGCCTTTAGTACTCCTTGGAGGGAGTACTAAGCCTTTAGTAC TCCTTGGAGGGAGTACTAAGCCTTTAGTACTCCTTGGAGGGAGTACTAAG CCTTTAGTACTCCTTGGAGGGAGTACTAAGCCTTTAGTACTCCTTGGAGG GAGTACTAAGCCTTTAGTACTCCTTGGAGGG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0176 a0001c0001t0009g0176	1	224	0.0045	180	c.124 others(197): Show c.124+1385_124+1386insGCCTTTAGTACTCCTTGGAGGGAGTACT AAGCCTTTAGTACTCCTTGGAGGGAGTACTAAGCCTTTAGTACTCCTTGG AGGGAGTACTAAGCCTTTAGTACTCCTTGGAGGGAGTACTAAGCCTTTAG TACTCCTTGGAGGGAGTACTAAGCCTTTAGTACTCCTTGGAGGGAGTACT AA		DAB2IP	ENSG00000136848.19	transcript	ENST00000408936.8	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr9	TogoVar
DBNL_chr7_44039702_44074456	44043563	A A	ATGTGTGT others(173): Show ATGTGTGTGTGTATATACATATATATACTATATGTGTGTATATATATACA TATATACTATATGTGTGTATATATATACATATATACTATATGTGTGTGTA TATATATACATATATATACTATATATGTGTGTGTGTGTATATATATATAT ATATATATATATATATATATTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0011 a0001c0002t0009g0011	1	380	0.0026	180	c.-11 others(191): Show c.-1175_-1174insTGTGTGTGTGTATATACATATATATACTATATGT GTGTATATATATACATATATACTATATGTGTGTATATATATACATATATA CTATATGTGTGTGTATATATATACATATATATACTATATATGTGTGTGTG TGTATATATATATATATATATATATATATATATATTTTTTTTTTTT		DBNL	ENSG00000136279.21	transcript	ENST00000448521.6	protein_coding					1138		chr7	TogoVar
DCLK1_chr13_35763652_36136382	35958124	T T	TATAACCA others(173): Show TATAACCATCACCACCATCACCACTATAACCACCACTACCACCACCACCA TTATAACCATCACCACCACCACTATAACCACCATCATCATCACCACCACT ACCACTACTGTAACCATCACCACCACCACTGCTATAACCATCACCACTAC CACTACTACCACTACTACAACCATTACCACC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0085 a0001c0002t0006g0085	1	230	0.0044	180	c.724 others(199): Show c.724-10668_724-10667insGGTGGTAATGGTTGTAGTAGTGGTAG TAGTGGTAGTGGTGATGGTTATAGCAGTGGTGGTGGTGATGGTTACAGTA GTGGTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGATGGT TATAATGGTGGTGGTGGTAGTGGTGGTTATAGTGGTGATGGTGGTGATGG TTAT		DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16						chr13	TogoVar
DEAF1_chr11_639233_700222	653428	G G	GTCTCTCT others(173): Show GTCTCTCTCGCGTGGCTCTGCAGGGGTGTGGAGGGCTCAATAATAGAGGA ACTGTGGACGCTCTCTCTCGCGTGGCTCTGCAGGGGTGTGGAGGGCTCAA TAATAGAGGAACTGTGGACAGTCTCTCTCGCGTGGCTCTGCAGGGGTGTG GAGGGCTCAATAATAGAGGAACTGTGGACGC	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0032 a0001c0003t0001g0032	1	345	0.0029	180	c.159 others(197): Show c.1593+533_1593+534insGCGTCCACAGTTCCTCTATTATTGAGCC CTCCACACCCCTGCAGAGCCACGCGAGAGAGACTGTCCACAGTTCCTCTA TTATTGAGCCCTCCACACCCCTGCAGAGCCACGCGAGAGAGAGCGTCCAC AGTTCCTCTATTATTGAGCCCTCCACACCCCTGCAGAGCCACGCGAGAGA GA		DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	11/11						chr11	TogoVar
DEF8_chr16_89943755_89973060	89949015	A A	AGGGACGG others(173): Show AGGGACGGGGCCGGCGGGGACGGGGCCGGCGGGGACGGGGCTGGGAGGGA CGGGGCCGGCGGGGACGGGGTCGGCGGGGTCGGGGCCGGCGGGGACGGGG CCGGCGGGGACGGGGCCGGCGGGGACGGGGCTGGGAGGGACGGGGCCGGC GGGGACGGGGTCGGCGGGGTCGGGGCCGGCG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02615.hp2 HG02647.hp1 others(1): Show HG02486.hp1 HG02615.hp2 HG02647.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0047 a0001c0001t0001g0204 a0001c0001t0001g0205	4	392	0.0102	180	c.-10 others(197): Show c.-108+225_-108+226insCCGGCGGGGACGGGGCTGGGAGGGACGG GGCCGGCGGGGACGGGGTCGGCGGGGTCGGGGCCGGCGGGGACGGGGCCG GCGGGGACGGGGCCGGCGGGGACGGGGCTGGGAGGGACGGGGCCGGCGGG GACGGGGTCGGCGGGGTCGGGGCCGGCGGGGACGGGGCCGGCGGGGACGG GG		DEF8	ENSG00000140995.17	transcript	ENST00000563594.6	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr16	TogoVar
DEPDC1B_chr5_60591912_60705166	60667534	T T	TATATACG others(173): Show TATATACGAAAAATGGATATTTTACATATATACGAAAAATGGATATTTTA CATATATACGAAAAATGGATATTTTACATATATACGAAAAATGGATATTT TACATATATACGAAAAATGGATATTTTACATATATACGAAAAATGGATAT TTTACATATATACGAAAAATGGATATTTTAC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	292	0.0034	180	c.314 others(199): Show c.314+19427_314+19428insGTAAAATATCCATTTTTCGTATATAT GTAAAATATCCATTTTTCGTATATATGTAAAATATCCATTTTTCGTATAT ATGTAAAATATCCATTTTTCGTATATATGTAAAATATCCATTTTTCGTAT ATATGTAAAATATCCATTTTTCGTATATATGTAAAATATCCATTTTTCGT ATAT		DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10						chr5	TogoVar
DEPDC1B_chr5_60591912_60705166	60668137	T T	TTATATAT others(173): Show TTATATATATATATAAAATGGATATTTTATATATATATATAAAATGGATA TTTTATATATATATATAAAATGGATATTTTATATATATATATATAAAATG GATATTTTATATATATATAAAATGGATATTTTATATATATATAAAATGGA TATTTTATATATATATAAAATGGATATTTTA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	292	0.0034	180	c.314 others(199): Show c.314+18824_314+18825insTAAAATATCCATTTTATATATATATA AAATATCCATTTTATATATATATAAAATATCCATTTTATATATATATAAA ATATCCATTTTATATATATATATATAAAATATCCATTTTATATATATATA TAAAATATCCATTTTATATATATATATAAAATATCCATTTTATATATATA TATA		DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10						chr5	TogoVar
DGKB_chr7_14140049_14907751	14170145	A A	AAAAAAGA others(173): Show AAAAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0116 a0001c0003t0002g0116	1	148	0.0068	180	c.230 others(199): Show c.2304+6693_2304+6694insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCT TTTT		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	25/25						chr7	TogoVar
DIP2B_chr12_50499985_50753657	50598754	T T	TCTCCCCC others(173): Show TCTCCCCCTCCCCCTCCCCTCTCCCCCTCTCCCCTCCCCTCCCCCTCCCG TCTTCCCCTCTCCCCTCCCCTCTTCCCCCTCTCCCCTCCCCTCTCCCCCC TCCCCTCTCCCCCTCTCCCCCTCCCCTCTCCCCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCCTCCCCTCCCCTC	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	284	0.0035	180	c.101 others(199): Show c.101-27221_101-27220insTCCCCCTCCCCCTCCCCTCTCCCCCT CTCCCCTCCCCTCCCCCTCCCGTCTTCCCCTCTCCCCTCCCCTCTTCCCC CTCTCCCCTCCCCTCTCCCCCCTCCCCTCTCCCCCTCTCCCCCTCCCCTC TCCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CTCC		DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37					INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	478371	G G	GGGGAGGG others(173): Show GGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGGGGAGAAGGGAGAAGAAGG GAAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAAGGGAGGGGAAGGGAGGGGAGAGGAGGAGAGAAGGAGAGGGGCGGGGC GGAGAGGGGCGGGGCGGGGCGGGGCGGGGCA	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	88	0.0114	180	c.158 others(197): Show c.158-5823_158-5822insTGCCCCGCCCCGCCCCGCCCCGCCCCTC TCCGCCCCGCCCCTCTCCTTCTCTCCTCCTCTCCCCTCCCTTCCCCTCCC TTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC TTCCCTTCTTCTCCCTTCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCCTC CC		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36						chr10	TogoVar
DIP2C_chr10_269201_694668	648048	G G	GGAAACTG others(173): Show GGAAACTGAGTCCACGTCGACATTGGATGGTGGGAGAGAACAGAGGGAAA CTGAATCCACGTCCACATTTGATGGCGGGAGAGAACAGAGGGAAACTGAG TCCACATCCACATTGGACGGTGGGCGAGAACAGAGGGAAACTGAGTCCAC GTCCACATTTGACGGTGGGAGAGAACAGAGC	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA18906.hp1 HG02922.hp2 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0005 a0001c0002t0003g0006 a0001c0002t0003g0005 a0001c0002t0003g0006	2	88	0.0227	180	c.85+ others(197): Show c.85+41445_85+41446insGCTCTGTTCTCTCCCACCGTCAAATGTG GACGTGGACTCAGTTTCCCTCTGTTCTCGCCCACCGTCCAATGTGGATGT GGACTCAGTTTCCCTCTGTTCTCTCCCGCCATCAAATGTGGACGTGGATT CAGTTTCCCTCTGTTCTCTCCCACCATCCAATGTCGACGTGGACTCAGTT TC		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36						chr10	TogoVar
DLGAP2_chr8_732628_1713476	747862	G G	GTCTGCGG others(173): Show GTCTGCGGTGGGATGGGGGGCTCTGCGGTGGGATGGGGGGCTCTGCGGTG GGATGGGGGGCTCTGCGGTGGGATGGGGGGCTCTGCGGTGGGATGGGCGG GCCTGCGGTGGGATGGGGGGCTCTGCGGTGGGATGGGCGGGTCTGCGGTG GGATGGGCGGGCCTGCGGTGGGATGGGGGGC	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0018 a0002c0004t0018	a0002c0004t0018g0010 a0002c0004t0018g0010	1	40	0.0250	180	c.18+ others(197): Show c.18+10053_18+10054insGGGCTCTGCGGTGGGATGGGGGGCTCTG CGGTGGGATGGGGGGCTCTGCGGTGGGATGGGGGGCTCTGCGGTGGGATG GGCGGGCCTGCGGTGGGATGGGGGGCTCTGCGGTGGGATGGGCGGGTCTG CGGTGGGATGGGCGGGCCTGCGGTGGGATGGGGGGCTCTGCGGTGGGATG GG		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	747897	G G	GGCGGGTC others(173): Show GGCGGGTCTGCGGTGGGATGGGCGGGTCTGCGGTGGGATGGGCGGGTCTG CGGTGGGATGGGGGGCTCTGCGGTGGGATGGGCGGGTCTGCGGTGGGATG GGGAGCTCTGCGGTGGGATGGGCGGGTCTGCGGTGGGATGGGCGGGTCTG CGGTGGGATGGGGGGCTCTGCGGTGGGATGA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0020 a0002c0001t0020	a0002c0001t0020g0024 a0002c0001t0020g0024	1	40	0.0250	180	c.18+ others(197): Show c.18+10093_18+10094insCGGGTCTGCGGTGGGATGGGCGGGTCTG CGGTGGGATGGGGGGCTCTGCGGTGGGATGGGCGGGTCTGCGGTGGGATG GGGAGCTCTGCGGTGGGATGGGCGGGTCTGCGGTGGGATGGGCGGGTCTG CGGTGGGATGGGGGGCTCTGCGGTGGGATGAGCGGGTCTGCGGTGGGATG GG		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	747922	C C	CTCTGCGG others(173): Show CTCTGCGGTGGGATGGGCGGGCCTGCGGTGGGATGGGGGGCTCTGTGGTG GGATGGGCGGGTCTGCGGTGGGATGGGCGGGTCTGCGGTGGGATGGGGGG CTCTGCGGTGGGATGGGGGGCTCTGCGGTGGGATGGGCGGGTCTGCGGTG GGATGGGGGGCTCTGTGGTGGGATGGGCGGG	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0025 a0001c0003t0001g0025	1	40	0.0250	180	c.18+ others(197): Show c.18+10157_18+10158insTCTGCGGTGGGATGGGCGGGTCTGCGGT GGGATGGGGGGCTCTGCGGTGGGATGGGGGGCTCTGCGGTGGGATGGGCG GGTCTGCGGTGGGATGGGGGGCTCTGTGGTGGGATGGGCGGGTCTGCGGT GGGATGGGCGGGCCTGCGGTGGGATGGGGGGCTCTGTGGTGGGATGGGCG GG		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1351666	T T	TGTGCGTG others(173): Show TGTGCGTGGAAAGGACGTGCGGGTCCTGAGTGTGTGTGGAAAGGCCGCGC GGGTCCTGAGTGTGCGTGGAAAGGCCGTGCGGGTCCTGACAGTGTGTGGA AAGGACGCGCGGGTCCTGAGTGTGTGTGGAAAGGCCGCGCGGGTCCTGAG TGTGGGTGGAAAGGCCGTGCGGGTCCTGACA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp2 HG03492.hp2 HG02074.hp1 HG02074.hp2 HG03492.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0002 a0001c0002t0009 a0002c0001t0020 a0001c0002t0002 a0001c0002t0009 a0002c0001t0020	a0001c0002t0002g0021 a0001c0002t0009g0039 a0002c0001t0020g0024 a0001c0002t0002g0021 a0001c0002t0009g0039 a0002c0001t0020g0024	3	40	0.0750	180	c.106 others(199): Show c.106+92786_106+92787insCGTGGAAAGGACGTGCGGGTCCTGAG TGTGTGTGGAAAGGCCGCGCGGGTCCTGAGTGTGCGTGGAAAGGCCGTGC GGGTCCTGACAGTGTGTGGAAAGGACGCGCGGGTCCTGAGTGTGTGTGGA AAGGCCGCGCGGGTCCTGAGTGTGGGTGGAAAGGCCGTGCGGGTCCTGAC AGTG		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAH10_chr12_123757301_123940714	123911674	G G	GGGAGTCT others(173): Show GGGAGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTTTGTCCTGGGGGGGG TCTGTCCTGGGGGCGTCTGTCCTGGGAGGGGTCTGTCCTGGGGGGGTCTG TCCTGGGGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTCTGTCC TGGGGGGTTTGTCCTGGGAGGGGTCTGTCCT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0037 a0037	a0037c0052 a0037c0052	a0037c0052t0001 a0037c0052t0001	a0037c0052t0001g0051 a0037c0052t0001g0051	1	170	0.0059	180	c.101 others(201): Show c.10134+1004_10134+1005insAGTCTGTCCTGGGGGGGTCTGTCC TGGGGGGTTTGTCCTGGGGGGGGTCTGTCCTGGGGGCGTCTGTCCTGGGA GGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGGGGTCTGTCCTGGGGG GGTCTGTCCTGGGGGGTCTGTCCTGGGGGGTTTGTCCTGGGAGGGGTCTG TCCTGG		DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78					INFO_REALIGN_3_PRIME	chr12	TogoVar
DOC2B_chr17_137789_186650	141497	A A	ATGGGGGG others(173): Show ATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACC TTGGTGAGGGGACCTGGTGAGGGGAACATGGGTGGGGAGCCTTGGTGAGG GGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAG GGGACATGGGGGGGACCTTGGTGAGGGGACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0031 a0001c0002t0031	a0001c0002t0031g0203 a0001c0002t0031g0203	1	339	0.0030	180	c.59 others(191): Show c.5943_*5944insGGTCCCCTCACCAAGGTCCCCCCCATGTCCCCTC ACCAGGTCCCCTCACCAAGGTCCCCCCCATGTCCCCTCACCAGGTCCCCT CACCAAGGCTCCCCACCCATGTTCCCCTCACCAGGTCCCCTCACCAAGGT CCCCCCCATGTCCCCTCACCAGGTCCCCTCACCAAGGTCCCCCCCA		DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding					1291		chr17	TogoVar
DOCK8_chr9_209865_470255	399997	T T	TCCACCAT others(173): Show TCCACCATCACCACCATCTTCACCACCACCACCACCTCCACCACCAGCAC TTCCACCATCACCACCTCCTTCACCATCACCATCACCACCACCTCCACCA TCACCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACC ACCTCCACCATCACCACCACCTCCACCACCA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01943.hp2 HG01496.hp1 HG01943.hp2	a0009 a0035 a0009 a0035	a0009c0017 a0035c0128 a0009c0017 a0035c0128	a0009c0017t0003 a0035c0128t0003 a0009c0017t0003 a0035c0128t0003	a0009c0017t0003g0212 a0035c0128t0003g0247 a0009c0017t0003g0212 a0035c0128t0003g0247	2	256	0.0078	180	c.323 others(197): Show c.3234+744_3234+745insTCACCACCATCTTCACCACCACCACCAC CTCCACCACCAGCACTTCCACCATCACCACCTCCTTCACCATCACCATCA CCACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCTCC ACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAC CA		DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47					INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400097	C C	CCACCACC others(173): Show CCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCACC TCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCATCACCAC CACCTCCACCATCACCACCACCTCCACCACCACCACCACCTCCACCACCA CCACCACCTCCACCACCACCACCTCCACCAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG06807.hp1 HG02896.hp1 HG06807.hp1	a0003 a0003	a0003c0134 a0003c0135 a0003c0134 a0003c0135	a0003c0134t0001 a0003c0135t0001 a0003c0134t0001 a0003c0135t0001	a0003c0134t0001g0217 a0003c0135t0001g0173 a0003c0134t0001g0217 a0003c0135t0001g0173	2	256	0.0078	180	c.323 others(197): Show c.3234+855_3234+856insTCACCACCACCACCTCCACCATCACCAC CACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCATCA CCACCACCTCCACCATCACCACCACCTCCACCACCACCACCACCTCCACC ACCACCACCACCTCCACCACCACCACCTCCACCATCACCACCACCTCCAC CA		DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47					INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400336	T T	TCCACCAC others(173): Show TCCACCACCAGCACTTCCACCATCACCACCTCCTTCACCATCACCATCAC CACCACCTCCACCATCACCACCACCTCCACCACCACCAGCATCTTCACCA TCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCTCC ACCACCACCACCACCTCCACCATCACCACCA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0017 a0017	a0017c0124 a0017c0124	a0017c0124t0001 a0017c0124t0001	a0017c0124t0001g0205 a0017c0124t0001g0205	1	256	0.0039	180	c.323 others(199): Show c.3234+1079_3234+1080insACCACCAGCACTTCCACCATCACCAC CTCCTTCACCATCACCATCACCACCACCTCCACCATCACCACCACCTCCA CCACCACCAGCATCTTCACCATCACCACCACCTCCACCATCACCACCACC TCCACCATCACCACCACCTCCACCACCACCACCACCTCCACCATCACCAC CACC		DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47					INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400647	C C	CCACCTCC others(173): Show CCACCTCCACCACCTCCACCACCACCTCCACCACCACCACCTCCACCACC TCCACCACCACCTCCACCACCACCACCACCACCACCACCACCTCCTTCAC CATCACCACCACCACCACCACCACCTCCACCTCCTTCACCATCACCACCA CCACCACCACCACCTCCACCATCACCACCGT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0023 a0023	a0023c0100 a0023c0100	a0023c0100t0004 a0023c0100t0004	a0023c0100t0004g0054 a0023c0100t0004g0054	1	256	0.0039	180	c.323 others(199): Show c.3234+1392_3234+1393insTCCACCACCTCCACCACCACCTCCAC CACCACCACCTCCACCACCTCCACCACCACCTCCACCACCACCACCACCA CCACCACCACCTCCTTCACCATCACCACCACCACCACCACCACCTCCACC TCCTTCACCATCACCACCACCACCACCACCACCTCCACCATCACCACCGT CACC		DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47					INFO_REALIGN_3_PRIME	chr9	TogoVar
DPH7_chr9_137549444_137583925	137567254	A A	ACTCTGTC others(173): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTCTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCAGGGTGAC TCTGTCTGTGAGGAAGCTCCCCGGGGTGACT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02809.hp2 HG02630.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0028 a0001c0001t0003g0029	2	340	0.0059	180	c.641 others(197): Show c.641-2101_641-2100insAGTCACCCCGGGGAGCTTCCTCACAGAC AGAGTCACCCTGGGGAGCTTCCTCACAGACAGTCACCCAGGGGAGCTTCC TCACAGACAGAGTCACCCAGGGGAGCTTCCTCACAGACAGAGTCACCCAG GGGAGCTTCCTCAGAGACAGAGTCACCCAGGGGAGCTTCCTCACAGACAG AG		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DPP10_chr2_114437641_115850780	115438870	T T	TGATGGTC others(173): Show TGATGGTCATGGAAGCACAGTGTGGAATAGTGGCTAAGATGGTCATGGAA GCACAGTGTGGAATAGTGGCTAAGATGGTCATGGAAGCACAGTGTGGAAT AGTGGCTAAGATGGTCATGGAAGCACAGTGTGGAATAGTGGCTAAGATGG TCATGGAAGCACAGTGTGGAATAGTGGCTAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03139.hp1 HG02145.hp2 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0004 a0001c0002t0001 a0001c0004t0004	a0001c0002t0001g0035 a0001c0004t0004g0043 a0001c0002t0001g0035 a0001c0004t0004g0043	2	56	0.0357	180	c.272 others(199): Show c.272-60610_272-60431dupTGGCTAAGATGGTCATGGAAGCACAG TGTGGAATAGTGGCTAAGATGGTCATGGAAGCACAGTGTGGAATAGTGGC TAAGATGGTCATGGAAGCACAGTGTGGAATAGTGGCTAAGATGGTCATGG AAGCACAGTGTGGAATAGTGGCTAAGATGGTCATGGAAGCACAGTGTGGA ATAG		DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	3/25					INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP10_chr2_114437641_115850780	115438972	T T	TGGCTAAG others(173): Show TGGCTAAGATGGTCATGGAAGCACAGTGTGGAATAGTGGCTAAGATGGTC ATGGAAGCACAGTGTGGAATAGCGGCTAAGATGGTCATGGAAGCACAGTG TGGAATAGTGGCTAAGATGGTCATGGAAGCACAGTGTGGAATAGCGGCTA AGATGGTCATGGAAGCACAGTGTGGAATAGC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0055 a0001c0004t0007g0055	1	56	0.0179	180	c.272 others(199): Show c.272-60467_272-60466insCGGCTAAGATGGTCATGGAAGCACAG TGTGGAATAGTGGCTAAGATGGTCATGGAAGCACAGTGTGGAATAGCGGC TAAGATGGTCATGGAAGCACAGTGTGGAATAGCGGCTAAGATGGTCATGG AAGCACAGTGTGGAATAGTGGCTAAGATGGTCATGGAAGCACAGTGTGGA ATAG		DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	3/25					INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP10_chr2_114437641_115850780	115439098	A A	AAGCACAG others(173): Show AAGCACAGTGTGGAATAGCGGCTAAGATGGTCATGGAAGCACAGTGTGGA ATAGCGGCTAAGATGGTCATGGAAGCACAGTGTGGAATAGTGGCTAAGAT GGTCATGGAAGCACAGTGTGGAATAGTGGCTAAGATGGTCATGGAAGCAC AGTGTGGAATAGTGGCTAAGATGGTCATGGG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01243.hp2 HG03139.hp2 HG01175.hp1 HG01243.hp2 HG03139.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0002 a0002c0001t0001 a0002c0001t0002 a0001c0002t0002 a0002c0001t0001 a0002c0001t0002	a0001c0002t0002g0005 a0002c0001t0001g0042 a0002c0001t0002g0006 a0001c0002t0002g0005 a0002c0001t0001g0042 a0002c0001t0002g0006	3	56	0.0536	180	c.272 others(199): Show c.272-60395_272-60394insCGGCTAAGATGGTCATGGAAGCACAG TGTGGAATAGCGGCTAAGATGGTCATGGAAGCACAGTGTGGAATAGTGGC TAAGATGGTCATGGAAGCACAGTGTGGAATAGTGGCTAAGATGGTCATGG AAGCACAGTGTGGAATAGTGGCTAAGATGGTCATGGGAGCACAGTGTGGA ATAG		DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	3/25					INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYSL2_chr8_26509031_26663175	26590404	A A	ACTCAGGT others(173): Show ACTCAGGTGTCACTGCGTGAATCTCGGCCTTGAACGGCTGGACTGGAAGA ATCCATCCACCCTCAGATGTCACTGCGTGAATCTCGGCCTTGAACGGCTG GACTGGAAGAATCCATCCACCCTCAGGTGTCACTGCGTGAATCTCGGCCT TGAACGGCTGGACTGGAAGAATCCATCCACC	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0303 a0001c0001t0001g0303	1	316	0.0032	180	c.628 others(197): Show c.628+6486_628+6487insATGTCACTGCGTGAATCTCGGCCTTGAA CGGCTGGACTGGAAGAATCCATCCACCCTCAGGTGTCACTGCGTGAATCT CGGCCTTGAACGGCTGGACTGGAAGAATCCATCCACCCTCAGGTGTCACT GCGTGAATCTCGGCCTTGAACGGCTGGACTGGAAGAATCCATCCACCCTC AG		DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr8	TogoVar
DUXA_chr19_57149021_57172485	57172116	A A	AGGGGGCG others(173): Show AGGGGGCGGGGGCGCGCGCGGGGGCGGGGGCGCGCGGGGGCGGGGGCGCG CGCGGGGGCGGGGGCGCGCGGGGGCGGGGGCGCGCGGGGGCGGGGGCGCG CGGGGGCGGGGGCGCGCGGGGGCGGGGGCGCGCGGGGGCGGGGGCGCGCG GGGGCGGGGGCGCGCGGGGGCGGGGGCGCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	446	0.0022	180	c.-46 others(191): Show c.-4674_-4673insGCGCGCCCCCGCCCCCGCGCGCCCCCGCCCCCGC GCGCCCCCGCCCCCGCGCGCCCCCGCCCCCGCGCGCCCCCGCCCCCGCGC GCCCCCGCCCCCGCGCGCCCCCGCCCCCGCGCGCCCCCGCCCCCGCGCGC GCCCCCGCCCCCGCGCGCCCCCGCCCCCGCGCGCGCCCCCGCCCCC		DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding					4632		chr19	TogoVar
DYM_chr18_49031387_49465645	49440859	T T	TTATATAA others(173): Show TTATATAAATACATTATATTTTATATATTTATATAAATATATTATATTTT ATATAATATATTATATATAATATATATAATATATATAATATATTTATATA AATATATTATATTTTATATAATATATTATATATAATATATATAATATATA TAATATATTTATATAAATATATTATATTTTA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0148 a0001c0001t0036g0148	1	290	0.0035	180	c.-53 others(199): Show c.-53-10413_-53-10412insTAAAATATAATATATTTATATAAATA TATTATATATATTATATATATTATATATAATATATTATATAAAATATAAT ATATTTATATAAATATATTATATATATTATATATATTATATATAATATAT TATATAAAATATAATATATTTATATAAATATATAAAATATAATGTATTTA TATA		DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17						chr18	TogoVar
DYSF_chr2_71448561_71691763	71479156	T T	TAAGAGCC others(173): Show TAAGAGCCAACCCAAATACGTGGTAGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTATCAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0052 a0001c0052	a0001c0052t0001 a0001c0052t0001	a0001c0052t0001g0009 a0001c0052t0001g0009	1	192	0.0052	180	c.89- others(195): Show c.89-1720_89-1719insAACCCAAATACGTGGTAGCGGGCGCCTGTA GTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCG ACAGAGCGAGACTCCGTATCAAAAAAAAAAAAAAAAAAAAAAAAAGAGCC		DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	1/54					INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71479156	T T	TAAGAGCC others(173): Show TAAGAGCCAACCCAAATACGTGGTAGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTATCAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0053 a0001c0053	a0001c0053t0001 a0001c0053t0001	a0001c0053t0001g0206 a0001c0053t0001g0206	1	208	0.0048	180	c.92- others(195): Show c.92-1720_92-1719insAACCCAAATACGTGGTAGCGGGCGCCTGTA GTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCG ACAGAGCGAGACTCCGTATCAAAAAAAAAAAAAAAAAAAAAAAAAGAGCC		DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	1/55					INFO_REALIGN_3_PRIME	chr2	TogoVar
EHD2_chr19_47708422_47748134	47718683	T T	TGGGGTCT others(173): Show TGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGTCTGGACTC CTGGATCTGAGGGAGGAGGGGCTGGGGTCTGGACTCCTGGATCTGAGGGA GGAGGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGACTGGGCC CGGACTCCTGGGTCTGAGGGAGGAGGGGCTG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0381 a0001c0001t0001g0381	1	398	0.0025	180	c.502 others(193): Show c.502+80_502+81insGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGC TGGGGTCTGGACTCCTGGATCTGAGGGAGGAGGGGCTGGGGTCTGGACTC CTGGATCTGAGGGAGGAGGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGA GGAGGGACTGGGCCCGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGG		EHD2	ENSG00000024422.12	transcript	ENST00000263277.8	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr19	TogoVar
EIF4G3_chr1_20801479_21181897	21180071	T T	TATACATA others(173): Show TATACATAATATATAATATATAATATATATATTATATATATATTATGTAT AATATATATATAATATATTATACATAATGTATAATATATATATAATATAT TATACATAATGTATAATATATGTATAATATATATATAATATATTATACAT AATATATAATATATATTACGTAATATATTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0224 a0001c0001t0004g0224	1	312	0.0032	180	c.-38 others(191): Show c.-3806_-3805insGTAATATATTACGTAATATATATTATATATTATG TATAATATATTATATATATATTATACATATATTATACATTATGTATAATA TATTATATATATATTATACATTATGTATAATATATTATATATATATTATA CATAATATATATATAATATATATATTATATATTATATATTATGTAT		EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding					3175		chr1	TogoVar
ELL2_chr5_95880098_95966851	95927389	A A	ATATATAG others(173): Show ATATATAGACATACACACACACACGTGTGTATATATAGACATACACACAC ACGTGTGTATATAGACATACACACACACGTGTGTATATAGACATACACAC ACACGTGTGTATATAGACATACACACACGTGTGTATATAGACATACACAC ACGTGTGTATATAGACATACACACACGTGTG	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0263 a0001c0001t0002g0263	1	314	0.0032	180	c.196 others(197): Show c.196-7845_196-7844insCACACGTGTGTGTATGTCTATATACACA CGTGTGTGTATGTCTATATACACACGTGTGTGTATGTCTATATACACACG TGTGTGTGTATGTCTATATACACACGTGTGTGTGTATGTCTATATACACA CGTGTGTGTGTATGTCTATATATACACACGTGTGTGTGTGTATGTCTATA TA		ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11						chr5	TogoVar
ENOSF1_chr18_665318_717630	667197	T T	TGATGGAG others(173): Show TGATGGAGATGGTGATGGTGATGGAGATGGTGATGGAGATGGTGATGGTG ATGGAGATGGTGATGGAGATGGTGATGGTGATGGTGATGGAGATGGAGAT GGTGATGGTGATGGTGATGGTGATGGTGATGGAGATGGAGATGGTGATGG TGATGGAGATGGTGATGGTGATGGAGATGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0218 a0001c0001t0008g0218	1	418	0.0024	180	c.71 others(191): Show c.7107_*7108insTCCATCTCCATCACCATCACCATCTCCATCACCA TCACCATCTCCATCTCCATCACCATCACCATCACCATCACCATCACCATC TCCATCTCCATCACCATCACCATCACCATCTCCATCACCATCTCCATCAC CATCACCATCTCCATCACCATCTCCATCACCATCACCATCTCCATC		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					3120		chr18	TogoVar
ENTPD2_chr9_137043107_137059061	137050042	G G	GCCGCCAC others(173): Show GCCGCCACCCGCCTGCCCCTACTCACGACAAAGTTCCCAGCCACCCGCCT GTCCCTACTCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGA CAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCC ACCCGCCTGCCCTTACCCACGACAAAGTTCC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0133 a0001c0002t0001g0133	1	400	0.0025	180	c.103 others(195): Show c.1030-54_1030-53insGGAACTTTGTCGTGGGTAAGGGCAGGCGGG TGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTT GTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGAGTAGGGA CAGGCGGGTGGCTGGGAACTTTGTCGTGAGTAGGGGCAGGCGGGTGGCGG		ENTPD2	ENSG00000054179.12	transcript	ENST00000355097.7	protein_coding	6/8						chr9	TogoVar
ERC1_chr12_986223_1500931	1122642	T T	TATCTCTA others(173): Show TATCTCTATCTCTATCTCTATCTGTGTCTATTGATATATCTGTATATATC TATCTAAATCTCTATCTCTATCTCTATCTGTGCCTATTGATATATCTGTA TATATCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTGTG CCTATTGATATATCTGTATATATCTATCTAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01106.hp2 HG02145.hp1 others(2): Show HG00140.hp1 HG01106.hp2 HG02145.hp1 HG02615.hp2 HG02976.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0049 a0001c0001t0062 a0001c0001t0138 others(2): Show a0001c0001t0049 a0001c0001t0062 a0001c0001t0138 a0002c0002t0035 a0002c0002t0105	a0001c0001t0049g0157 a0001c0001t0062g0147 a0001c0001t0138g0095 others(2): Show a0001c0001t0049g0157 a0001c0001t0062g0147 a0001c0001t0138g0095 a0002c0002t0035g0143 a0002c0002t0105g0148	5	162	0.0309	180	c.156 others(199): Show c.1569+6631_1569+6632insGTGTCTATTGATATATCTGTATATAT CTATCTAAATCTCTATCTCTATCTCTATCTGTGCCTATTGATATATCTGT ATATATCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTGT GCCTATTGATATATCTGTATATATCTATCTAAATCTCTATCTCTATCTCT ATCT		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122642	T T	TATCTCTA others(173): Show TATCTCTATCTCTATCTGTGTCTATTGATATATCTGTATATATCTATCTA AATCTCTATCTCTATCTCTATCTGTGCCTATTGATATATCTGTATATATC TATCTCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTGTG CCTATTGATATATCTGTATATATCTATCTAA	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA20805.hp1 HG02155.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0117 a0001c0001t0027 a0001c0001t0117	a0001c0001t0027g0119 a0001c0001t0117g0001 a0001c0001t0027g0119 a0001c0001t0117g0001	2	162	0.0124	180	c.156 others(199): Show c.1569+6625_1569+6626insGTGTCTATTGATATATCTGTATATAT CTATCTAAATCTCTATCTCTATCTCTATCTGTGCCTATTGATATATCTGT ATATATCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTCT ATCTGTGCCTATTGATATATCTGTATATATCTATCTAAATCTCTATCTCT ATCT		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
ERRFI1_chr1_8006727_8031309	8026946	A A	ATGAGGGA others(173): Show ATGAGGGACAGTGAGAGACTGTGTAGGACAGTGAGGGACAGTGTGGGACG GTGAGGGACAGTGTGGGACGGTGAGGGACAGTGTGGGACGGTGAGGGACA GTGAGGGACAGTGTGGGACGGTGAGGGACAGTGAGGGACAGTGAGGGACT GTGTAGGACGGTGAGGGACAGTGTGGGACGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	402	0.0025	180	c.-86 others(189): Show c.-863_-862insCCGTCCCACACTGTCCCTCACCGTCCTACACAGTCC CTCACTGTCCCTCACTGTCCCTCACCGTCCCACACTGTCCCTCACTGTCC CTCACCGTCCCACACTGTCCCTCACCGTCCCACACTGTCCCTCACCGTCC CACACTGTCCCTCACTGTCCTACACAGTCTCTCACTGTCCCTCA		ERRFI1	ENSG00000116285.13	transcript	ENST00000377482.10	protein_coding					638		chr1	TogoVar
ESYT3_chr3_138429616_138484925	138451869	G G	GCCAGGGC others(173): Show GCCAGGGCTGGACGCCGAGTGGGTGCGGAGAGCGCACCTGTGACCGACGT GGAGGCGGCGGGGAGGAAGGGTTGAGGTGCAGCGCGTGGGCGGAATGGGA AGCCCGCCAGGCTGGCTTGCTTGGTTCCCAGCGGGTGTGCGGCTTCTAGT CTAACTTCCCCTCGGGGCTTCTTTCCTAGAT	stop_gained others(1): Show stop_gained disruptive_inframe_insertion	HIGH	HG01884.hp1 HG02451.hp1 HG02486.hp2 others(9): Show HG01884.hp1 HG02451.hp1 HG02486.hp2 HG02630.hp2 HG02717.hp1 HG02970.hp1 HG03041.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp2 NA19043.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0004 a0001c0005 a0002c0002 others(1): Show a0001c0004 a0001c0005 a0002c0002 a0003c0003	a0001c0004t0003 a0001c0005t0001 a0002c0002t0001 others(1): Show a0001c0004t0003 a0001c0005t0001 a0002c0002t0001 a0003c0003t0001	a0001c0004t0003g0102 a0001c0005t0001g0125 a0002c0002t0001g0041 others(5): Show a0001c0004t0003g0102 a0001c0005t0001g0125 a0002c0002t0001g0041 a0003c0003t0001g0008 a0003c0003t0001g0100 a0003c0003t0001g0101 a0003c0003t0001g0103 a0003c0003t0001g0238	12	338	0.0355	180	c.328 others(191): Show c.328-175_332dupGGGCTGGACGCCGAGTGGGTGCGGAGAGCGCACC TGTGACCGACGTGGAGGCGGCGGGGAGGAAGGGTTGAGGTGCAGCGCGTG GGCGGAATGGGAAGCCCGCCAGGCTGGCTTGCTTGGTTCCCAGCGGGTGT GCGGCTTCTAGTCTAACTTCCCCTCGGGGCTTCTTTCCTAGATCCA	p.Ile others(193): Show p.Ile110_His111insGlnGlyTrpThrProSerGlyCysGlyGluAr gThrCysAspArgArgGlyGlyGlyGlyGluGluGlyLeuArgCysSerA laTrpAlaGluTrpGluAlaArgGlnAlaGlyLeuLeuGlySerGlnArg ValCysGlyPheTerSerAsnPheProSerGlyLeuLeuSerTerIle	ESYT3	ENSG00000158220.14	transcript	ENST00000389567.9	protein_coding	2/23	516/5915	333/2661	111/886		INFO_REALIGN_3_PRIME	chr3	TogoVar
EXD3_chr9_137301896_137428162	137322923	C C	CTCTGCCG others(173): Show CTCTGCCGACACCCCACCCCGGACCCACGAGGGATGCTCTGCCGACACCC CACCCCGGACCCACGAGGGGTGCTCTGCCGACACCCCACCCCGGACCCAC GAGGGGTGATCTGCCGACACCCCACCCCGGACCCACGAGGGGTGATCTGC CGACACCCCACCCCGGACCCACGAGGGGTGA	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0030 a0030	a0030c0026 a0030c0026	a0030c0026t0001 a0030c0026t0001	a0030c0026t0001g0033 a0030c0026t0001g0033	1	82	0.0122	180	c.218 others(197): Show c.2184+801_2184+802insTCACCCCTCGTGGGTCCGGGGTGGGGTG TCGGCAGATCACCCCTCGTGGGTCCGGGGTGGGGTGTCGGCAGATCACCC CTCGTGGGTCCGGGGTGGGGTGTCGGCAGAGCACCCCTCGTGGGTCCGGG GTGGGGTGTCGGCAGAGCATCCCTCGTGGGTCCGGGGTGGGGTGTCGGCA GA		EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	19/21						chr9	TogoVar
EXD3_chr9_137301896_137428162	137322959	C C	CTCTGCCG others(173): Show CTCTGCCGACACCCCACCCCGGACCCACGAGGGGTGCTCTGCCGACACCC CACCCCGGACCCACGAGGGGTGATCTGCCGACACCCCACCCCGGACCCAC GAGGGGTGATCTGCCGACACCCCACCCCGGACCCACGAGGGGTGATCTGC CGACACCCCACCCCGGACCCACGAGGGGTGA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02165.hp1 HG02647.hp2 others(2): Show HG01975.hp1 HG02165.hp1 HG02647.hp2 HG04204.hp1 NA19066.hp1	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0017	a0001c0001 a0003c0003 a0006c0005 others(1): Show a0001c0001 a0003c0003 a0006c0005 a0017c0015	a0001c0001t0001 a0003c0003t0001 a0006c0005t0001 others(1): Show a0001c0001t0001 a0003c0003t0001 a0006c0005t0001 a0017c0015t0001	a0001c0001t0001g0010 a0001c0001t0001g0063 a0003c0003t0001g0041 others(2): Show a0001c0001t0001g0010 a0001c0001t0001g0063 a0003c0003t0001g0041 a0006c0005t0001g0053 a0017c0015t0001g0072	5	82	0.0610	180	c.218 others(197): Show c.2184+765_2184+766insTCACCCCTCGTGGGTCCGGGGTGGGGTG TCGGCAGATCACCCCTCGTGGGTCCGGGGTGGGGTGTCGGCAGATCACCC CTCGTGGGTCCGGGGTGGGGTGTCGGCAGATCACCCCTCGTGGGTCCGGG GTGGGGTGTCGGCAGAGCACCCCTCGTGGGTCCGGGGTGGGGTGTCGGCA GA		EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	19/21						chr9	TogoVar
EXD3_chr9_137301896_137428162	137323139	A A	ATCTGCCG others(173): Show ATCTGCCGACACCCCACCCCGGACCCACGAGGGGTGATCTGCCGACACCC CACCCCGGACCCACGAGGGGTGATCTGCCGACACCCCACCCCGGACCCAC GAGGGGTGATCTGCCGACACCCCACCCCGGACCCACGAGGGGTGATCTGC CGACACCCCACCCCGGACCCACGAGGGGTGC	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0028 a0002c0002t0001g0028	1	82	0.0122	180	c.218 others(197): Show c.2184+585_2184+586insGCACCCCTCGTGGGTCCGGGGTGGGGTG TCGGCAGATCACCCCTCGTGGGTCCGGGGTGGGGTGTCGGCAGATCACCC CTCGTGGGTCCGGGGTGGGGTGTCGGCAGATCACCCCTCGTGGGTCCGGG GTGGGGTGTCGGCAGATCACCCCTCGTGGGTCCGGGGTGGGGTGTCGGCA GA		EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	19/21						chr9	TogoVar

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