Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CSMD1_chr8_2930361_4999914	4920882	AAAAGAAA others(57): Show AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAGA GAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA19074.hp1 HG02258.hp2 NA19074.hp1	a0001 a0002 a0001 a0002	a0001c0115 a0002c0076 a0001c0115 a0002c0076	a0001c0115t0042 a0002c0076t0035 a0001c0115t0042 a0002c0076t0035	a0001c0115t0042g0055 a0002c0076t0035g0014 a0001c0115t0042g0055 a0002c0076t0035g0014	2	126	0.0159	-64	c.85+ others(81): Show c.85+73386_85+73449delCTTTCTTTCTTTCTCTCTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSNK1D_chr17_82237667_82278700	82253911	GAGAAGCC others(57): Show GAGAAGCCAGTGAGCTGAGCCGCCGGAGCCTCGAGAAGCCAGTGAGCTGA GCCGCCGGAGCCTCC	G G	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0205 a0001c0002t0003g0205	1	320	0.0031	-64	c.337 others(79): Show c.337-731_337-668delGGAGGCTCCGGCGGCTCAGCTCACTGGCTT CTCGAGGCTCCGGCGGCTCAGCTCACTGGCTTCT	CSNK1D	ENSG00000141551.15	transcript	ENST00000314028.11	protein_coding	3/8			chr17	TogoVar
CSNK1D_chr17_82237667_82278700	82254008	AGAAGCCA others(57): Show AGAAGCCAGTCAGCTGAGCCGCCGGAGCCTCGAGAAGCCAGTCAGCTGAG CCGCCGGAGCCTCGT	A A	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	320	0.0031	-64	c.337 others(79): Show c.337-828_337-765delACGAGGCTCCGGCGGCTCAGCTGACTGGCT TCTCGAGGCTCCGGCGGCTCAGCTGACTGGCTTC	CSNK1D	ENSG00000141551.15	transcript	ENST00000314028.11	protein_coding	3/8			chr17	TogoVar
CSNK1D_chr17_82237667_82278700	82254018	CAGCTGAG others(57): Show CAGCTGAGCCGCCGGAGCCTCGAGAAGCCAGTCAGCTGAGCCGCCGGAGC CTCGTGAAGCCAGTG	C C	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	320	0.0031	-64	c.337 others(79): Show c.337-838_337-775delCACTGGCTTCACGAGGCTCCGGCGGCTCAG CTGACTGGCTTCTCGAGGCTCCGGCGGCTCAGCT	CSNK1D	ENSG00000141551.15	transcript	ENST00000314028.11	protein_coding	3/8			chr17	TogoVar
CTDP1_chr18_79674803_79759503	79750026	CAGCAGGC others(57): Show CAGCAGGCGGTGCCCAGCCCAACACAGGCACGGGCACAAGATCTGCAGAT GAGGCATGGAGGGGA	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0205 a0001c0008t0001g0205	1	378	0.0027	-64	c.274 others(83): Show c.2748-3622_2748-3559delAGGCGGTGCCCAGCCCAACACAGGCA CGGGCACAAGATCTGCAGATGAGGCATGGAGGGGAAGC	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTNNA2_chr2_79508051_80653780	80075666	ATGTATAA others(57): Show ATGTATAAATATTATAAAAATAATATTTATACTTGTATAAATATTATAAA AATAATATTTATACT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02622.hp2 HG02809.hp1 others(5): Show HG02145.hp1 HG02622.hp2 HG02809.hp1 HG02886.hp1 HG03688.hp1 HG03927.hp1 HG04228.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0012	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0002 a0001c0004t0001 a0001c0004t0002 a0001c0012t0002	a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0002g0029 others(5): Show a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0002g0029 a0001c0002t0001g0037 a0001c0003t0002g0008 a0001c0004t0001g0032 a0001c0004t0002g0048 a0001c0012t0002g0019	8	68	0.1177	-64	c.105 others(87): Show c.1056+165920_1056+165983delATAATATTTATACTTGTATAAA TATTATAAAAATAATATTTATACTTGTATAAATATTATAAAA	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
CTTNBP2_chr7_117705651_117878441	117717371	TGTTTTGT others(57): Show TGTTTTGTTATAATTAACTCTAATTTTCTAAAATGCAGGAAACCTTAGGA ACAACCAAGATGACA	T T	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	164	0.0061	-64	c.474 others(81): Show c.4746+583_4746+646delTGTCATCTTGGTTGTTCCTAAGGTTTCC TGCATTTTAGAAAATTAGAGTTAATTATAACAAAAC	CTTNBP2	ENSG00000077063.11	transcript	ENST00000160373.8	protein_coding	22/22			chr7	TogoVar
CXCL13_chr4_77600820_77616834	77614352	TGTCCCAG others(57): Show TGTCCCAGGTTCCTAGTACAGAGCTCCTAAAACCCTTGGAATTCCCTGAG TGATGCGAGTGTCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	366	0.0027	-64	c.33 others(75): Show c.3314_*3377delGTCCCAGGTTCCTAGTACAGAGCTCCTAAAACCC TTGGAATTCCCTGAGTGATGCGAGTGTCTC	CXCL13	ENSG00000156234.8	transcript	ENST00000682537.1	protein_coding		2519		chr4	TogoVar
CYLD_chr16_50737086_50806935	50754988	CATATATA others(57): Show CATATATATGTATATATACATATATATGTATATATACATATATATGTATA TATACATATATATGT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00738.hp2 HG01175.hp2 others(31): Show HG00735.hp1 HG00738.hp2 HG01175.hp2 HG01256.hp1 HG01258.hp2 HG01346.hp2 HG01433.hp2 HG02055.hp1 HG02056.hp1 HG02135.hp1 HG02300.hp1 HG02738.hp1 HG02922.hp2 HG03017.hp1 HG03688.hp2 HG03927.hp1 HG04228.hp2 NA18942.hp2 NA18947.hp1 NA18951.hp1 NA18952.hp2 NA18956.hp2 NA18986.hp1 NA19009.hp1 NA19010.hp2 NA19054.hp1 NA19057.hp2 NA19060.hp2 NA19067.hp1 NA19082.hp2 NA19083.hp2 NA19091.hp1 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0010 others(2): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0010 a0001c0002t0012 a0001c0002t0023	a0001c0001t0001g0031 a0001c0002t0002g0009 a0001c0002t0002g0010 others(27): Show a0001c0001t0001g0031 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0017 a0001c0002t0002g0027 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0034 a0001c0002t0002g0036 a0001c0002t0002g0141 a0001c0002t0002g0142 a0001c0002t0002g0143 a0001c0002t0002g0144 a0001c0002t0002g0145 a0001c0002t0002g0148 a0001c0002t0002g0183 a0001c0002t0002g0229 a0001c0002t0002g0230 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0010g0028 a0001c0002t0010g0147 a0001c0002t0012g0035 a0001c0002t0012g0146 a0001c0002t0023g0009	34	302	0.1126	-64	c.913 others(79): Show c.913+572_913+635delTGTATATATACATATATATGTATATATACA TATATATGTATATATACATATATATGTATATATA	CYLD	ENSG00000083799.18	transcript	ENST00000427738.8	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr16	TogoVar
CYTH1_chr17_78669048_78787273	78760453	ATACATAC others(57): Show ATACATACATATATATATGTATATATATGTATGTATATATATATACATAT ATATGTATATATATG	A A	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0016 a0001c0003t0017g0016	1	378	0.0027	-64	c.22+ others(81): Show c.22+21685_22+21748delCATATATATACATATATATGTATATATA TATACATACATATATATACATATATATATGTATGTA	CYTH1	ENSG00000108669.18	transcript	ENST00000446868.8	protein_coding	1/13			chr17	TogoVar
DCAKD_chr17_45018344_45056632	45051724	TGGGCGGG others(57): Show TGGGCGGGCGGGGCCGGGAGAGGTTGGGCGGGCGGGCGGGCGGGGCCGGG AGAGGTTGGGCGGGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01261.hp1 HG01358.hp2 others(9): Show HG01109.hp2 HG01261.hp1 HG01358.hp2 HG01928.hp1 HG02004.hp1 HG02165.hp2 HG02300.hp1 NA18971.hp2 NA18982.hp1 NA18989.hp2 NA19002.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 others(3): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0025 a0001c0001t0034	a0001c0001t0005g0067 a0001c0001t0005g0100 a0001c0001t0007g0044 others(9): Show a0001c0001t0005g0067 a0001c0001t0005g0100 a0001c0001t0007g0044 a0001c0001t0007g0077 a0001c0001t0007g0097 a0001c0001t0008g0052 a0001c0001t0008g0063 a0001c0001t0011g0050 a0001c0001t0011g0054 a0001c0001t0011g0071 a0001c0001t0025g0062 a0001c0001t0034g0058	12	408	0.0294	-64	c.-54 others(73): Show c.-542_-479delGCCCGCCCAACCTCTCCCGGCCCCGCCCGCCCGCCC GCCCAACCTCTCCCGGCCCCGCCCGCCC	DCAKD	ENSG00000172992.13	transcript	ENST00000651974.1	protein_coding		93		chr17	TogoVar
DCC_chr18_52335197_53540899	53047248	ATATATAT others(57): Show ATATATATATATATATATATATATATATATATATATATATAATTTTATAT ATATATATATAATTT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0022 a0001c0015t0022	a0001c0015t0022g0101 a0001c0015t0022g0101	1	114	0.0088	-64	c.986 others(83): Show c.986-16044_986-15981delTATATATATATATATATATATATATA TAATTTTATATATATATATATAATTTTATATATATATA	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	5/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DDA1_chr19_17304563_17328298	17315257	GTATATAC others(57): Show GTATATACACACACGTGTATATACACACACTATATATATACACACGTGTA TATATATACACGCTA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 NA20805.hp2 HG00280.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0004g0170 a0001c0001t0004g0171	2	388	0.0052	-64	c.137 others(79): Show c.137-670_137-607delCACACACGTGTATATACACACACTATATAT ATACACACGTGTATATATATACACGCTATATATA	DDA1	ENSG00000130311.11	transcript	ENST00000359866.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
DDA1_chr19_17304563_17328298	17315273	GTATATAC others(57): Show GTATATACACACACTATATATATACACACGTGTATATATATACACGCTAT ATATATACACACGTA	G G	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01346.hp1 HG02055.hp2 others(7): Show HG01175.hp2 HG01346.hp1 HG02055.hp2 HG02615.hp2 HG02809.hp2 HG02895.hp2 HG03017.hp2 HG03195.hp2 HG03453.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0022 a0001c0001t0004g0198 a0001c0001t0004g0200 others(5): Show a0001c0001t0004g0022 a0001c0001t0004g0198 a0001c0001t0004g0200 a0001c0001t0004g0201 a0001c0001t0004g0202 a0001c0001t0004g0203 a0001c0001t0004g0206 a0001c0001t0004g0207	10	388	0.0258	-64	c.137 others(79): Show c.137-654_137-591delCACACACTATATATATACACACGTGTATAT ATATACACGCTATATATATACACACGTATATATA	DDA1	ENSG00000130311.11	transcript	ENST00000359866.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
DEFB108B_chr11_71828200_71842710	71840320	CTGCCTGG others(57): Show CTGCCTGGGCACTATTCCAGGGCCAGAACACATGCCCATCCCACCCATTG CTGTCACTACCACTA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	440	0.0023	-64	c.27 others(75): Show c.2759_*2822delTGCCTGGGCACTATTCCAGGGCCAGAACACATGC CCATCCCACCCATTGCTGTCACTACCACTA	DEFB108B	ENSG00000184276.3	transcript	ENST00000328698.2	protein_coding		2611		chr11	TogoVar
DENND1C_chr19_6462207_6486787	6479272	GGTTTCTG others(57): Show GGTTTCTGGATCTCTGGGTCCTTGAATCCCTAAGTCCCTGGGTTCCTCAG TCCCTGAGTCCCTGA	G G	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0297 a0002c0003t0001g0297	1	420	0.0024	-64	c.177 others(79): Show c.177-280_177-217delTCAGGGACTCAGGGACTGAGGAACCCAGGG ACTTAGGGATTCAAGGACCCAGAGATCCAGAAAC	DENND1C	ENSG00000205744.10	transcript	ENST00000381480.7	protein_coding	4/22			chr19	TogoVar
DGKB_chr7_14140049_14907751	14211361	ATTTACTC others(57): Show ATTTACTCTCGTGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACT CTCATGTTTTGTGAT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0072 a0001c0002t0003g0072	1	148	0.0068	-64	c.212 others(85): Show c.2123-33274_2123-33211delATCACAAAACATGAGAGTAAATAT CACAAAACATGAGAGTAAAATCACAAAACACGAGAGTAAA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14212026	ATTTACTC others(57): Show ATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACT CTCATGTTTTGTGAT	A A	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0117 a0001c0001t0002g0117	1	148	0.0068	-64	c.212 others(85): Show c.2123-33939_2123-33876delATCACAAAACATGAGAGTAAAATC ACAAAACATGAGAGTAAATATCACAAAACATGAGAGTAAA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14212354	ATGTTTTG others(57): Show ATGTTTTGTGATTTTACTCTCGTGTTTTGTGATATTTACTCTCATGTTTT GTGATTTTACTCTCG	A A	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG04115.hp2 NA20300.hp2 HG01255.hp1 HG04115.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0016 a0001c0002 a0001c0016	a0001c0002t0001 a0001c0002t0002 a0001c0016t0001 a0001c0002t0001 a0001c0002t0002 a0001c0016t0001	a0001c0002t0001g0070 a0001c0002t0002g0137 a0001c0016t0001g0039 a0001c0002t0001g0070 a0001c0002t0002g0137 a0001c0016t0001g0039	3	148	0.0203	-64	c.212 others(85): Show c.2123-34267_2123-34204delCGAGAGTAAAATCACAAAACATGA GAGTAAATATCACAAAACACGAGAGTAAAATCACAAAACA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKG_chr3_186142201_186367234	186302474	ATATATAT others(57): Show ATATATATATATATATATATATATATATATATACATATGTGTATATATAT ATATATATACATATG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03130.hp2 HG01109.hp1 HG03130.hp2	a0001 a0005 a0001 a0005	a0001c0003 a0005c0014 a0001c0003 a0005c0014	a0001c0003t0003 a0005c0014t0035 a0001c0003t0003 a0005c0014t0035	a0001c0003t0003g0176 a0005c0014t0035g0093 a0001c0003t0003g0176 a0005c0014t0035g0093	2	234	0.0086	-64	c.145 others(81): Show c.145-4309_145-4246delCATATGTATATATATATATATATACACA TATGTATATATATATATATATATATATATATATATA	DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	3/24			chr3	TogoVar
DGKG_chr3_186142201_186367234	186302495	TATATATA others(57): Show TATATATATATACATATGTGTATATATATATATATATACATATGTATATA TATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01256.hp1 HG01258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0211 a0001c0002t0003g0212 a0001c0002t0003g0211 a0001c0002t0003g0212	2	234	0.0086	-64	c.145 others(81): Show c.145-4330_145-4267delGTATATATATATATATATATACATATGT ATATATATATATATATACACATATGTATATATATAT	DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	3/24			chr3	TogoVar
DGKG_chr3_186142201_186367234	186302502	ATATACAT others(57): Show ATATACATATGTGTATATATATATATATATACATATGTATATATATATAT ATATATACACATATG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0003 a0007c0016t0003	a0007c0016t0003g0181 a0007c0016t0003g0181	1	234	0.0043	-64	c.144 others(81): Show c.144+4335_145-4274delCATATGTGTATATATATATATATATATA CATATGTATATATATATATATATACACATATGTATA	DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	3/24			chr3	TogoVar
DHRS12_chr13_51762993_51809163	51774560	TGTATTCT others(57): Show TGTATTCTCCTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCC TACATGTATTCTACA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01081.hp2 HG01106.hp1 others(30): Show HG00735.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01243.hp1 HG01255.hp1 HG01261.hp2 HG01496.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02273.hp2 HG02293.hp1 HG02698.hp1 HG02738.hp2 HG03130.hp1 HG03195.hp1 HG03453.hp2 HG03486.hp1 HG03516.hp2 HG03579.hp1 HG03688.hp2 HG04184.hp2 NA18906.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0010 a0001c0001 a0002c0002 a0002c0010	a0001c0001t0003 a0002c0002t0001 a0002c0002t0003 others(1): Show a0001c0001t0003 a0002c0002t0001 a0002c0002t0003 a0002c0010t0003	a0001c0001t0003g0259 a0002c0002t0001g0193 a0002c0002t0003g0002 others(23): Show a0001c0001t0003g0259 a0002c0002t0001g0193 a0002c0002t0003g0002 a0002c0002t0003g0042 a0002c0002t0003g0044 a0002c0002t0003g0049 a0002c0002t0003g0050 a0002c0002t0003g0072 a0002c0002t0003g0074 a0002c0002t0003g0080 a0002c0002t0003g0141 a0002c0002t0003g0157 a0002c0002t0003g0159 a0002c0002t0003g0174 a0002c0002t0003g0217 a0002c0002t0003g0218 a0002c0002t0003g0228 a0002c0002t0003g0231 a0002c0002t0003g0244 a0002c0002t0003g0246 a0002c0002t0003g0251 a0002c0002t0003g0252 a0002c0002t0003g0255 a0002c0002t0003g0320 a0002c0002t0003g0324 a0002c0010t0003g0253	33	420	0.0786	-64	c.364 others(79): Show c.364-590_364-527delTGTAGAATACATGTAGGAGAATACTGTAGG AGAATACTGTAGGAGAATACATGTAGGAGAATAC	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRS12_chr13_51762993_51809163	51774835	TGTATTCT others(57): Show TGTATTCTCCTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCC TACATGTATTCTACA	T T	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01978.hp2 HG02145.hp2 others(3): Show HG01934.hp1 HG01978.hp2 HG02145.hp2 HG03195.hp1 HG03688.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0072 a0002c0002t0003g0074 a0002c0002t0003g0244 others(3): Show a0002c0002t0003g0072 a0002c0002t0003g0074 a0002c0002t0003g0244 a0002c0002t0003g0246 a0002c0002t0003g0251 a0002c0002t0003g0324	6	420	0.0143	-64	c.364 others(79): Show c.364-865_364-802delTGTAGAATACATGTAGGAGAATACTGTAGG AGAATACTGTAGGAGAATACATGTAGGAGAATAC	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRS12_chr13_51762993_51809163	51775110	TGTATTCT others(57): Show TGTATTCTCCTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCC TACATGTATTCTACA	T T	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0209 a0002c0002t0003g0209	1	420	0.0024	-64	c.364 others(81): Show c.364-1140_364-1077delTGTAGAATACATGTAGGAGAATACTGTA GGAGAATACTGTAGGAGAATACATGTAGGAGAATAC	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRS12_chr13_51762993_51809163	51775385	TGTATTCT others(57): Show TGTATTCTCCTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCC TACATGTATTCTACA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03516.hp2 HG02055.hp1 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0017 a0002c0002t0003g0217 a0002c0002t0003g0017 a0002c0002t0003g0217	2	420	0.0048	-64	c.364 others(81): Show c.364-1415_364-1352delTGTAGAATACATGTAGGAGAATACTGTA GGAGAATACTGTAGGAGAATACATGTAGGAGAATAC	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRS12_chr13_51762993_51809163	51775660	TGTATTCT others(57): Show TGTATTCTCCTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCC TACATGTATTCTACA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01106.hp1 HG01109.hp2 others(21): Show HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01261.hp2 HG01496.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02148.hp1 HG02273.hp2 HG02698.hp1 HG02738.hp2 HG03195.hp1 HG03453.hp2 HG03486.hp1 HG03688.hp2 HG04184.hp2 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0010 a0002c0002 a0002c0010	a0002c0002t0001 a0002c0002t0003 a0002c0010t0003 a0002c0002t0001 a0002c0002t0003 a0002c0010t0003	a0002c0002t0001g0193 a0002c0002t0003g0002 a0002c0002t0003g0042 others(17): Show a0002c0002t0001g0193 a0002c0002t0003g0002 a0002c0002t0003g0042 a0002c0002t0003g0044 a0002c0002t0003g0049 a0002c0002t0003g0050 a0002c0002t0003g0074 a0002c0002t0003g0141 a0002c0002t0003g0158 a0002c0002t0003g0159 a0002c0002t0003g0174 a0002c0002t0003g0228 a0002c0002t0003g0231 a0002c0002t0003g0246 a0002c0002t0003g0251 a0002c0002t0003g0252 a0002c0002t0003g0255 a0002c0002t0003g0320 a0002c0002t0003g0324 a0002c0010t0003g0253	24	420	0.0571	-64	c.363 others(81): Show c.363+1336_363+1399delTGTAGAATACATGTAGGAGAATACTGTA GGAGAATACTGTAGGAGAATACATGTAGGAGAATAC	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRSX_chrX_2214506_2505976	2228038	GGGGAAGG others(57): Show GGGGAAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGAGGGGAAGGGAGGGA GGGAAGGAGGGAGGA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0027 a0001c0001t0012g0027	1	50	0.0200	-64	c.805 others(81): Show c.805-6873_805-6810delTCCTCCCTCCTTCCCTCCCTCCCTTCCC CTCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	6/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2362761	GCCATTTT others(57): Show GCCATTTTATCACCGTTCTATGGTATCATGCCGCCATTTTATCACCGTTC TATGGTATCATGCCT	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0013 a0007c0009t0013	a0007c0009t0013g0005 a0007c0009t0013g0005	1	50	0.0200	-64	c.286 others(83): Show c.286+45920_286+45983delAGGCATGATACCATAGAACGGTGATA AAATGGCGGCATGATACCATAGAACGGTGATAAAATGG	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHX35_chr20_38957344_39044721	38960138	AGTGGCAT others(57): Show AGTGGCATTTATTTCATTTTGCCTTATATTCATGTATAAACCTTGGTTTC CGTATTTGGGCTGTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	290	0.0035	-64	c.-22 others(75): Show c.-2229_-2166delGTGGCATTTATTTCATTTTGCCTTATATTCATGT ATAAACCTTGGTTTCCGTATTTGGGCTGTT	DHX35	ENSG00000101452.15	transcript	ENST00000252011.8	protein_coding		2205		chr20	TogoVar
DIP2B_chr12_50499985_50753657	50579628	AAAAAAAA others(57): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATA TATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01517.hp2 HG02083.hp1 others(7): Show HG01255.hp1 HG01517.hp2 HG02083.hp1 HG02717.hp2 HG03669.hp1 HG04204.hp1 NA18747.hp2 NA18957.hp1 NA18993.hp1 NA18999.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0242 a0001c0002t0003g0247 a0001c0002t0003g0248 others(7): Show a0001c0002t0003g0242 a0001c0002t0003g0247 a0001c0002t0003g0248 a0001c0002t0003g0249 a0001c0002t0003g0254 a0001c0002t0003g0256 a0001c0002t0003g0257 a0001c0002t0003g0264 a0001c0002t0003g0266 a0001c0002t0003g0268	10	284	0.0352	-64	c.101 others(83): Show c.101-46346_101-46283delAAAAAAAAAAAAAAAATATATATATA TATATATATATATATATATATATATATATATATATATA	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50579630	AAAAAAAA others(57): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATATA TATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01106.hp2 HG01123.hp1 others(14): Show HG00597.hp2 HG01106.hp2 HG01123.hp1 HG01168.hp2 HG01192.hp2 HG01256.hp2 HG01358.hp1 HG01515.hp1 HG02155.hp2 HG02300.hp2 HG02615.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03710.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0018 a0001c0002t0003 a0001c0002t0018	a0001c0002t0003g0201 a0001c0002t0003g0203 a0001c0002t0003g0205 others(14): Show a0001c0002t0003g0201 a0001c0002t0003g0203 a0001c0002t0003g0205 a0001c0002t0003g0218 a0001c0002t0003g0220 a0001c0002t0003g0223 a0001c0002t0003g0224 a0001c0002t0003g0228 a0001c0002t0003g0231 a0001c0002t0003g0245 a0001c0002t0003g0246 a0001c0002t0003g0255 a0001c0002t0003g0263 a0001c0002t0003g0267 a0001c0002t0003g0273 a0001c0002t0018g0227 a0001c0002t0018g0262	17	284	0.0599	-64	c.101 others(83): Show c.101-46344_101-46281delAAAAAAAAAAAAAATATATATATATA TATATATATATATATATATATATATATATATATATATA	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50579632	AAAAAAAA others(57): Show AAAAAAAAAAAAAATATATATATATATATATATATATATATATATATATA TATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01071.hp2 HG01081.hp2 others(4): Show HG00099.hp1 HG01071.hp2 HG01081.hp2 HG01433.hp1 HG01496.hp1 HG02683.hp2 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0202 a0001c0002t0003g0206 a0001c0002t0003g0207 others(4): Show a0001c0002t0003g0202 a0001c0002t0003g0206 a0001c0002t0003g0207 a0001c0002t0003g0219 a0001c0002t0003g0221 a0001c0002t0003g0233 a0001c0002t0003g0240	7	284	0.0247	-64	c.101 others(83): Show c.101-46342_101-46279delAAAAAAAAAAAATATATATATATATA TATATATATATATATATATATATATATATATATATATA	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50579634	AAAAAAAA others(57): Show AAAAAAAAAAAATATATATATATATATATATATATATATATATATATATA TATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0013 a0004c0009t0013	a0004c0009t0013g0241 a0004c0009t0013g0241	1	284	0.0035	-64	c.101 others(83): Show c.101-46340_101-46277delAAAAAAAAAATATATATATATATATA TATATATATATATATATATATATATATATATATATATA	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	336914	GTGTGTGT others(57): Show GTGTGTGTTGTGGAGGCCTAGACTGGTGTGTGCGCGTGTGTGTGTGTTGT GGAGGCCTAGGCAGC	G G	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02040.hp1 HG02132.hp2 others(5): Show HG01515.hp2 HG02040.hp1 HG02132.hp2 HG02155.hp1 HG02647.hp1 HG03453.hp1 NA18962.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0012 a0001c0001 a0001c0005 a0001c0012	a0001c0001t0001 a0001c0001t0004 a0001c0005t0002 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0005t0002 a0001c0012t0002	a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0023 others(5): Show a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0004g0015 a0001c0005t0002g0017 a0001c0012t0002g0052	8	88	0.0909	-64	c.358 others(83): Show c.3584+4221_3584+4284delGCTGCCTAGGCCTCCACAACACACAC ACACGCGCACACACCAGTCTAGGCCTCCACAACACACA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	29/36			chr10	TogoVar
DIPK2A_chr3_143966823_143997368	143978605	TATATATA others(57): Show TATATATATATCTATATCTATATATATATATATATCTATATATATATATA TATATCTATATATAG	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02486.hp1 HG02486.hp2 others(13): Show HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp2 HG02723.hp1 HG02738.hp2 HG02976.hp1 HG03209.hp2 NA18522.hp2 NA18906.hp1 NA18946.hp1 NA18950.hp2 NA18954.hp2 NA18978.hp2 NA18991.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0004t0006 a0001c0004t0011	a0001c0001t0002g0166 a0001c0001t0003g0013 a0001c0001t0003g0085 others(7): Show a0001c0001t0002g0166 a0001c0001t0003g0013 a0001c0001t0003g0085 a0001c0001t0006g0021 a0001c0001t0006g0050 a0001c0001t0006g0235 a0001c0001t0006g0251 a0001c0004t0006g0225 a0001c0004t0006g0253 a0001c0004t0011g0237	16	408	0.0392	-64	c.657 others(81): Show c.657+5627_657+5690delCTATATCTATATATATATATATATCTAT ATATATATATATATATCTATATATAGATATATATAT	DIPK2A	ENSG00000181744.9	transcript	ENST00000315691.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
DIPK2A_chr3_143966823_143997368	143978618	ATATCTAT others(57): Show ATATCTATATATATATATATATCTATATATATATATATATATCTATATAT AGATATATATATATC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(72): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00438.hp2 HG00733.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01192.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01952.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02145.hp2 HG02258.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02615.hp1 HG02647.hp1 HG02698.hp1 HG02809.hp1 HG02886.hp2 HG02976.hp2 HG03017.hp2 HG03669.hp2 HG03704.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 NA18942.hp2 NA18943.hp2 NA18950.hp1 NA18952.hp1 NA18953.hp2 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18965.hp1 NA18966.hp2 NA18968.hp2 NA18970.hp2 NA18973.hp1 NA18977.hp1 NA18980.hp2 NA18981.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp2 NA19005.hp2 NA19007.hp2 NA19011.hp2 NA19012.hp2 NA19043.hp1 NA19055.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19068.hp1 NA19072.hp2 NA19074.hp2 NA19076.hp2 NA19077.hp1 NA19079.hp1 NA19081.hp2 NA19086.hp2 NA19088.hp1 NA19089.hp1 NA19091.hp2 NA20300.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0013 a0001c0001t0023 a0001c0002t0002 a0001c0003t0008 a0001c0006t0002 a0001c0007t0002	a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0011 others(45): Show a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0011 a0001c0001t0002g0014 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0044 a0001c0001t0002g0151 a0001c0001t0002g0155 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0182 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0218 a0001c0001t0003g0016 a0001c0001t0003g0083 a0001c0001t0004g0002 a0001c0001t0004g0006 a0001c0001t0004g0011 a0001c0001t0004g0014 a0001c0001t0004g0039 a0001c0001t0004g0163 a0001c0001t0004g0195 a0001c0001t0005g0197 a0001c0001t0010g0002 a0001c0001t0010g0006 a0001c0001t0013g0154 a0001c0001t0023g0248 a0001c0002t0002g0204 a0001c0002t0002g0210 a0001c0003t0008g0022 a0001c0006t0002g0247 a0001c0007t0002g0150	75	408	0.1838	-64	c.657 others(81): Show c.657+5633_657+5696delCTATATATATATATATATCTATATATAT ATATATATATCTATATATAGATATATATATATCTAT	DIPK2A	ENSG00000181744.9	transcript	ENST00000315691.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
DLGAP2_chr8_732628_1713476	1013791	CGCCTCCA others(57): Show CGCCTCCACTGCGTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTGAG ACCAGGACAGACGAT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0025 a0001c0010t0025	a0001c0010t0025g0012 a0001c0010t0025g0012	1	40	0.0250	-64	c.73+ others(83): Show c.73+105836_73+105899delCGTGTGTGACCAGGACAGACGGTGCC TCCACTGTGTGAGACCAGGACAGACGATGCCTCCACTG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1016742	ACGCCTCC others(57): Show ACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGT GACCAGGACAGACGG	A A	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0008 a0001c0002t0010g0008	1	40	0.0250	-64	c.73+ others(83): Show c.73+108794_73+108857delACCAGGACAGACGATGCCTCCACTGT GTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1351064	CTGAGTGT others(57): Show CTGAGTGTGTGTGGAAACACCGTGCGGGTCCTGACTGTGTGTGGAAAGGC CGTGCAGATCCTGAG	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01361.hp1 HG01496.hp2 others(7): Show HG00639.hp2 HG01361.hp1 HG01496.hp2 HG02258.hp2 HG02895.hp1 HG02895.hp2 HG02976.hp2 HG03492.hp1 HG03516.hp2 NA18906.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0001c0010 others(3): Show a0001c0002 a0001c0003 a0001c0010 a0002c0001 a0002c0007 a0003c0005	a0001c0002t0001 a0001c0002t0022 a0001c0003t0001 others(6): Show a0001c0002t0001 a0001c0002t0022 a0001c0003t0001 a0001c0003t0006 a0001c0010t0025 a0002c0001t0001 a0002c0001t0007 a0002c0007t0008 a0003c0005t0004	a0001c0002t0001g0015 a0001c0002t0022g0034 a0001c0003t0001g0026 others(7): Show a0001c0002t0001g0015 a0001c0002t0022g0034 a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0003t0006g0033 a0001c0010t0025g0012 a0002c0001t0001g0018 a0002c0001t0007g0038 a0002c0007t0008g0040 a0003c0005t0004g0037	10	40	0.2500	-64	c.106 others(83): Show c.106+92184_106+92247delAGTGTGTGTGGAAACACCGTGCGGGT CCTGACTGTGTGTGGAAAGGCCGTGCAGATCCTGAGTG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1376654	TCTGACCC others(57): Show TCTGACCCCGGTGGGATGTGTGGTCATCGGCGGATGGCGGGGACAGGGCT ACCGAGACCCTCAAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp2 HG02071.hp1 others(4): Show HG01891.hp1 HG01891.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02818.hp1 HG03492.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0012 others(2): Show a0001c0002 a0001c0003 a0001c0012 a0002c0001 a0002c0004	a0001c0002t0009 a0001c0002t0027 a0001c0003t0014 others(4): Show a0001c0002t0009 a0001c0002t0027 a0001c0003t0014 a0001c0003t0024 a0001c0012t0004 a0002c0001t0007 a0002c0004t0026	a0001c0002t0009g0039 a0001c0002t0027g0023 a0001c0003t0014g0020 others(4): Show a0001c0002t0009g0039 a0001c0002t0027g0023 a0001c0003t0014g0020 a0001c0003t0024g0003 a0001c0012t0004g0036 a0002c0001t0007g0038 a0002c0004t0026g0016	7	40	0.1750	-64	c.106 others(85): Show c.106+117776_106+117839delCCCCGGTGGGATGTGTGGTCATCG GCGGATGGCGGGGACAGGGCTACCGAGACCCTCAACCTGA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1376659	CCCCGGTG others(57): Show CCCCGGTGGGATGTGTGGTCATCGGCGGATGGCGGGGACAGGGCTACCGA GACCCTCAACCTGAG	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01071.hp1 HG01361.hp2 others(8): Show HG00639.hp2 HG01071.hp1 HG01361.hp2 HG01496.hp2 HG02074.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG03516.hp2 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0001c0010 others(4): Show a0001c0002 a0001c0003 a0001c0010 a0002c0001 a0002c0006 a0002c0007 a0003c0005	a0001c0002t0006 a0001c0002t0023 a0001c0003t0001 others(6): Show a0001c0002t0006 a0001c0002t0023 a0001c0003t0001 a0001c0010t0025 a0002c0001t0020 a0002c0006t0021 a0002c0007t0008 a0003c0005t0002 a0003c0005t0004	a0001c0002t0006g0011 a0001c0002t0023g0005 a0001c0003t0001g0025 others(8): Show a0001c0002t0006g0011 a0001c0002t0023g0005 a0001c0003t0001g0025 a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0010t0025g0012 a0002c0001t0020g0024 a0002c0006t0021g0014 a0002c0007t0008g0040 a0003c0005t0002g0031 a0003c0005t0004g0037	11	40	0.2750	-64	c.106 others(85): Show c.106+117860_106+117923delATCGGCGGATGGCGGGGACAGGGC TACCGAGACCCTCAACCTGAGCCCGGTGGGATGTGTGGTC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1483600	CAAGGGAA others(57): Show CAAGGGAAGGCTGAACTGCTGTGCAGGAGGCTCAGGGAGCAGGACCTGAG GGCGTCTACACAGAG	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0004 a0001c0003t0017g0004	1	40	0.0250	-64	c.107 others(83): Show c.107-17765_107-17702delAAGGGAAGGCTGAACTGCTGTGCAGG AGGCTCAGGGAGCAGGACCTGAGGGCGTCTACACAGAG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14			chr8	TogoVar
DMD_chrX_31114222_33216549	33009500	ATATGTGT others(57): Show ATATGTGTATATACACATATGTGTGTATGTGTGTATGTGTATATACACAT ATGTGTGTATGTGTG	A A	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	126	0.0079	-64	c.93+ others(81): Show c.93+10575_93+10638delCACACATACACACATATGTGTATATACA CATACACACATACACACATATGTGTATATACACATA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DNAH14_chr1_224924675_225404286	225078795	TCTCTCTC others(57): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCCTCTCTCTCTCTCTCTCCC TCTCTCTCTCTCTCC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0103 a0103	a0103c0040 a0103c0040	a0103c0040t0001 a0103c0040t0001	a0103c0040t0001g0099 a0103c0040t0001g0099	1	240	0.0042	-64	c.242 others(81): Show c.2425-382_2425-319delCCTCTCTCTCTCTCTCTCCCTCTCTCTC TCTCTCCCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	DNAH14	ENSG00000185842.16	transcript	ENST00000682510.1	protein_coding	17/85		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNAH14_chr1_224924675_225404286	225335611	GTGTATAT others(57): Show GTGTATATACGCATATATACATATGTGCATATATGTATATACGCATATAT ACATATGTGCATATA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00733.hp1 HG00735.hp2 others(15): Show HG00639.hp1 HG00733.hp1 HG00735.hp2 HG01106.hp2 HG01257.hp2 HG01358.hp1 HG02273.hp2 HG02683.hp1 HG02896.hp1 HG03017.hp1 HG03130.hp2 HG03669.hp1 HG03834.hp2 NA18955.hp2 NA19070.hp1 NA19079.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0000 a0005 a0023 others(10): Show a0000 a0005 a0023 a0034 a0036 a0054 a0055 a0065 a0067 a0074 a0075 a0098 a0107	a0000c0102 a0005c0005 a0023c0022 others(10): Show a0000c0102 a0005c0005 a0023c0022 a0034c0100 a0036c0120 a0054c0067 a0055c0068 a0065c0047 a0067c0061 a0074c0117 a0075c0116 a0098c0104 a0107c0084	a0000c0102t0003 a0005c0005t0001 a0023c0022t0001 others(10): Show a0000c0102t0003 a0005c0005t0001 a0023c0022t0001 a0034c0100t0001 a0036c0120t0001 a0054c0067t0001 a0055c0068t0001 a0065c0047t0001 a0067c0061t0001 a0074c0117t0001 a0075c0116t0001 a0098c0104t0001 a0107c0084t0001	a0000c0102t0003g0177 a0005c0005t0001g0116 a0005c0005t0001g0133 others(15): Show a0000c0102t0003g0177 a0005c0005t0001g0116 a0005c0005t0001g0133 a0005c0005t0001g0134 a0005c0005t0001g0150 a0005c0005t0001g0238 a0023c0022t0001g0038 a0023c0022t0001g0064 a0034c0100t0001g0185 a0036c0120t0001g0088 a0054c0067t0001g0046 a0055c0068t0001g0047 a0065c0047t0001g0233 a0067c0061t0001g0024 a0074c0117t0001g0191 a0075c0116t0001g0190 a0098c0104t0001g0131 a0107c0084t0001g0207	18	240	0.0750	-64	c.100 others(85): Show c.10081-1568_10081-1505delTGTGCATATATGTATATACGCATA TATACATATGTGCATATATGTATATACGCATATATACATA	DNAH14	ENSG00000185842.16	transcript	ENST00000682510.1	protein_coding	66/85		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNM2_chr19_10713079_10836903	10758359	TTCCTTCC others(57): Show TTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCT CCTTCCTTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA19030.hp2 HG02257.hp1 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0140 a0001c0002t0002g0004 a0001c0002t0002g0140	2	278	0.0072	-64	c.162 others(81): Show c.162-1363_162-1300delTTCCCTCCCTCCTTCCTTCCCTCCTTCC TTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCC	DNM2	ENSG00000079805.19	transcript	ENST00000389253.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
DOC2B_chr17_137789_186650	170765	AGGCCAGG others(57): Show AGGCCAGGCTGCAGAGGGGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGG CAGCACCAGGGGCCG	A A	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0049 a0001c0002t0049	a0001c0002t0049g0250 a0001c0002t0049g0250	1	339	0.0030	-64	c.453 others(81): Show c.453+1708_453+1771delCGGCCCCTGGTGCTGCCCTCTGCAGCCT GGCCCGGCCCCTGGTGCTCCCCTCTGCAGCCTGGCC	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8			chr17	TogoVar
DOC2B_chr17_137789_186650	170815	CAGCACCA others(57): Show CAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGCAGCACCAGGGGCCGGGC CAGGCTGCAGAGGGG	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02559.hp1 HG03098.hp2 others(1): Show HG02258.hp1 HG02559.hp1 HG03098.hp2 HG03540.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0106 a0001c0005t0007g0112 a0001c0005t0007g0113 others(1): Show a0001c0005t0007g0106 a0001c0005t0007g0112 a0001c0005t0007g0113 a0001c0005t0007g0115	4	339	0.0118	-64	c.453 others(81): Show c.453+1658_453+1721delCCCCTCTGCAGCCTGGCCCGGCCCCTGG TGCTGCCCTCTGCAGCCTGGCCCGGCCCCTGGTGCT	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8			chr17	TogoVar
DOC2B_chr17_137789_186650	171599	GAGCACCA others(57): Show GAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGCACCAGGGGCCGGGC CAGGCTGCAGAGGGC	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0062 a0001c0002t0003g0062	1	339	0.0030	-64	c.453 others(79): Show c.453+874_453+937delGCCCTCTGCAGCCTGGCCCGGCCCCTGGTG CTCCCCTCTGCAGCCTGGCCCGGCCCCTGGTGCT	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8			chr17	TogoVar

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