Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CHFR_chr12_132827356_132892605	132868681	A A	AAACAAAC others(172): Show AAACAAACAAACAAACAAAAAACAAAAAAAAATTAGCCGGGCGTGGTTGC AGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGT GAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTC CAGCCTGAGCGACAGAGCGAGACTCCGTCT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03486.hp1 HG03195.hp1 HG03486.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0054 a0005c0009t0055 a0005c0009t0054 a0005c0009t0055	a0005c0009t0054g0118 a0005c0009t0055g0106 a0005c0009t0054g0118 a0005c0009t0055g0106	2	378	0.0053	179	c.583 others(194): Show c.583+937_583+938insAGACGGAGTCTCGCTCTGTCGCTCAGGCTG GAGTGCAGTGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTC ACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCT GCAACCACGCCCGGCTAATTTTTTTTTGTTTTTTGTTTGTTTGTTTGTT	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	6/17			chr12	TogoVar
CLEC10A_chr17_7069537_7085251	7077290	A A	ATTCCCAT others(172): Show ATTCCCATCAATCACTCCATCAGTGTCCCCATCACCGTTCCCGTCAATCA CTCCATCAGTGCCCCCGTCACCATTTCCATCAATCACTCCATCAGTGCCC CCATCACCGTTCCCATCAATCACTCCATCAGTGCCCCCCCACCATTCCCA TCAATCACTCCATCAGTGCTCCCACCACCG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02895.hp1 HG02896.hp2 others(1): Show HG02486.hp2 HG02895.hp1 HG02896.hp2 HG03041.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0010 a0003c0007t0002 a0003c0007t0010	a0003c0007t0002g0130 a0003c0007t0010g0022 a0003c0007t0002g0130 a0003c0007t0010g0022	4	458	0.0087	179	c.185 others(194): Show c.185-304_185-303insCGGTGGTGGGAGCACTGATGGAGTGATTGA TGGGAATGGTGGGGGGGCACTGATGGAGTGATTGATGGGAACGGTGATGG GGGCACTGATGGAGTGATTGATGGAAATGGTGACGGGGGCACTGATGGAG TGATTGACGGGAACGGTGATGGGGACACTGATGGAGTGATTGATGGGAA	CLEC10A	ENSG00000132514.14	transcript	ENST00000416562.7	protein_coding	3/8			chr17	TogoVar
CLPTM1L_chr5_1312752_1350099	1333123	C C	CGGATGAG others(172): Show CGGATGAGGATAAGGGGGACTACTGTATACACATTGGATGAGGATAAGGG GGGACTACTGTATACACACCAGATGAGGATAAGGGGGGACTACTGTAGAC ACACCGGATGAGGATAAGGGGGACTACTGTATACACACCGGATGAGGATA AGGGGTGACTACTGTATACACACCAGATGA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02896.hp1 HG02572.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0126 a0001c0001t0001g0127	2	370	0.0054	179	c.891 others(196): Show c.891+1165_891+1166insTCATCTGGTGTGTATACAGTAGTCACCC CTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCTTATCCTCATCCGGT GTGTCTACAGTAGTCCCCCCTTATCCTCATCTGGTGTGTATACAGTAGTC CCCCCTTATCCTCATCCAATGTGTATACAGTAGTCCCCCTTATCCTCATC C	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
CNOT3_chr19_54132762_54160681	54133829	C C	CCCTCCCT others(172): Show CCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCTCTCTGTCCCT CCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCT CTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCA CCTTCCCTGTCTCCACCTCCCCTCTCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	223	0.0045	179	c.-42 others(190): Show c.-4215_-4214insCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCC CCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCT CTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCT CCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCTCTCTG	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3932		chr19	TogoVar
CNR2_chr1_23865515_23918362	23899941	G G	GAAAGAAA others(172): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAGGAAAGAAGGAAAGAA GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAAAAAAGAAAGAA AAGAAAGAAAGAGGGAAGGAAGGAAAGAGA	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0206 a0001c0001t0016g0206	1	268	0.0037	179	c.-46 others(198): Show c.-46+13304_-46+13305insTCTCTTTCCTTCCTTCCCTCTTTCTT TCTTTTCTTTCTTTTTTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCCTTCTTTCCTTCTTTCCTTCTTTCTTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTT	CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	1/1			chr1	TogoVar
CNR2_chr1_23865515_23918362	23899941	G G	GAAAGAAA others(172): Show GAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAAGAAGGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAAAAAAGAAAGAA AAGAAAGAAAGAGGGAAGGAAGGAAAGAGA	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0134 a0001c0001t0017g0134	1	268	0.0037	179	c.-46 others(198): Show c.-46+13304_-46+13305insTCTCTTTCCTTCCTTCCCTCTTTCTT TCTTTTCTTTCTTTTTTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTC TTT	CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	1/1			chr1	TogoVar
COMMD10_chr5_116080025_116298287	116158161	C C	CCTCCTCC others(172): Show CCTCCTCCTCCCTCCCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCT CTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTC TCCGTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCT CTCCTCTCTCTCCCTCTCCTCTCTCTCCGT	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0054 a0002c0003t0001g0054	1	350	0.0029	179	c.510 others(198): Show c.510+23989_510+23990insCTCCCTCCCTCCTCTCTCTCCGTCTC CTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTC TCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCCTCTCCTCTCTCTCC CTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCGTCTC CTC	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158161	C C	CCTCCTCC others(172): Show CCTCCTCCTCCCTCCCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCT CTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTC TCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCT CTCCTCTCTCTCCCTCTCCTCTCTCTCCGT	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0040 a0002c0003t0001g0040	1	350	0.0029	179	c.510 others(198): Show c.510+23989_510+23990insCTCCCTCCCTCCTCTCTCTCCGTCTC CTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTC TCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCC CTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCGTCTC CTC	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158161	C C	CCTCCTCC others(172): Show CCTCCTCCTCCCTCCCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCT CTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTC TCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCCTCTCCTCTCTCTCCGT CTCCTCTCTCTCCGTCTCCTCTCTCTCCGT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0026 a0002c0003t0001g0026	1	350	0.0029	179	c.510 others(198): Show c.510+23989_510+23990insCTCCCTCCCTCCTCTCTCTCCGTCTC CTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTC TCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCC CTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTC CTC	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158161	C C	CCTCCTCC others(172): Show CCTCCTCCTCCCTCCCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCT CTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTC TCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCCT CTCCTCTCTCTCCCTCTCCTCTCTCTCCCT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0041 a0002c0003t0001g0041	1	350	0.0029	179	c.510 others(198): Show c.510+23989_510+23990insCTCCCTCCCTCCTCTCTCTCCGTCTC CTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTC TCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCC GTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTC CTC	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
CPNE7_chr16_89570758_89602246	89587330	G G	GCCCCGCC others(172): Show GCCCCGCCCCACCCCGCCCCCTCAGTCAGTGGCCCCGCCCCCCTCCACAC CGGGACCTGCCCCCCGCCCACCCGGAGGAGGAACCAGGCCAGATACCTGG AGTCCCCCCGGCCGCCCCTGCCCCCGCCCCCGCCCCCGCCCCCGCCCCCC CCCCCCCGCCGCCCCCGCCCCCGCCCCCGC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0319 a0002c0004t0002g0319	1	348	0.0029	179	c.927 others(194): Show c.927+237_927+238insACCCCGCCCCCTCAGTCAGTGGCCCCGCCC CCCTCCACACCGGGACCTGCCCCCCGCCCACCCGGAGGAGGAACCAGGCC AGATACCTGGAGTCCCCCCGGCCGCCCCTGCCCCCGCCCCCGCCCCCGCC CCCGCCCCCCCCCCCCCGCCGCCCCCGCCCCCGCCCCCGCCCCCGCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CRELD2_chr22_49913634_49932537	49926713	C C	CCCCACCC others(172): Show CCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCC CTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCC CCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCC CTCTTGCCCCTCCCTCCCCCCACCCCAGGT	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0001 a0001c0021t0001	a0001c0021t0001g0062 a0001c0021t0001g0062	1	324	0.0031	179	c.101 others(196): Show c.1010-539_1010-538insACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCC CCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCAGGTCC C	CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRELD2_chr22_49913634_49932537	49926713	C C	CCCCACCC others(172): Show CCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCC CTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCC CCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCC CTCTTGCCCCTCCCTCCCCCCACCCCGGGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(103): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00639.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp2 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01516.hp1 HG01516.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02074.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02165.hp1 HG02257.hp2 HG02293.hp1 HG02293.hp2 HG02559.hp1 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02735.hp2 HG02970.hp1 HG03195.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03579.hp2 HG03688.hp1 HG03831.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 NA18612.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18952.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18983.hp1 NA18985.hp1 NA18985.hp2 NA18989.hp2 NA18990.hp2 NA18994.hp2 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19056.hp2 NA19057.hp2 NA19065.hp1 NA19067.hp1 NA19070.hp1 NA19070.hp2 NA19084.hp2 NA19088.hp1 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0011 a0001c0027 others(4): Show a0001c0001 a0001c0011 a0001c0027 a0002c0002 a0002c0009 a0006c0010 a0006c0025	a0001c0001t0001 a0001c0011t0001 a0001c0027t0001 others(4): Show a0001c0001t0001 a0001c0011t0001 a0001c0027t0001 a0002c0002t0001 a0002c0009t0001 a0006c0010t0001 a0006c0025t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(36): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0038 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0011t0001g0110 a0001c0011t0001g0123 a0001c0027t0001g0001 a0002c0002t0001g0132 a0002c0009t0001g0001 a0006c0010t0001g0001 a0006c0025t0001g0001	106	324	0.3272	179	c.101 others(196): Show c.1010-539_1010-538insACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCC CCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCC C	CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
CROCC2_chr2_240901336_240998311	240980240	G G	GCTCAGGC others(172): Show GCTCAGGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCA GTCTTTGGGTAGGAGCCTCAGGAGCCCAGACTCATCCCTGCTCAGTCTCT GGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGT AGGAGCCTCAGGATCCCAGGCTCACCCCTC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0016 a0016	a0016c0073 a0016c0073	a0016c0073t0007 a0016c0073t0007	a0016c0073t0007g0166 a0016c0073t0007g0166	1	350	0.0029	179	c.440 others(198): Show c.4402-2635_4402-2634insGCTCTGGGGTAGGAGCCTCAGGATCC CAGGCTCATCCCTGCTCAGTCTTTGGGTAGGAGCCTCAGGAGCCCAGACT CATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCC CTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCACCCCTCCT CAG	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSF2RA_chrX_1263814_1314935	1270913	G G	GCGCCTGT others(172): Show GCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCATGA ACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCATTGCACTCCA GCCTGGGCGACAGAGAGAGACTCCGTCTCAAAATAAATAAATAAATAAAT GGAACATTTAAGGCTGGGCGTGGTGGCACA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0133 a0001c0001t0003g0133	1	159	0.0063	179	c.-91 others(196): Show c.-91+2048_-91+2049insGCTACTTGGGAGGCTGAGGCAGGAGAAT CGCATGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCATTG CACTCCAGCCTGGGCGACAGAGAGAGACTCCGTCTCAAAATAAATAAATA AATAAATGGAACATTTAAGGCTGGGCGTGGTGGCACACGCCTGTAATCCC A	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1270913	G G	GCGCCTGT others(172): Show GCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCATGA ACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCATTGCACTCCA GCCTGGGTGACAGAGAGAGACTCCGTCTCAAAATAAATAAATAAATAAAT GGAACATTTAAGGCTGGGCGTGGTGGCACA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01070.hp1 HG01070.hp2 others(27): Show HG00639.hp2 HG01070.hp1 HG01070.hp2 HG01106.hp1 HG01175.hp1 HG01192.hp2 HG01346.hp2 HG01934.hp1 HG01993.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp2 HG03239.hp2 HG03453.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04184.hp1 NA18954.hp1 NA18969.hp1 NA18980.hp1 NA18980.hp2 NA19005.hp1 NA19010.hp1 NA19062.hp1 NA19064.hp1 NA19080.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0010c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0014 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0002c0003t0001 a0002c0003t0002 a0010c0011t0010	a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0053 others(27): Show a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0051 a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0041 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0004g0049 a0001c0001t0004g0055 a0001c0001t0004g0057 a0001c0001t0014g0043 a0001c0002t0001g0052 a0001c0002t0003g0035 a0001c0002t0003g0059 a0001c0002t0004g0037 a0001c0002t0004g0038 a0001c0002t0004g0042 a0001c0002t0004g0050 a0001c0002t0004g0058 a0001c0002t0005g0040 a0001c0002t0006g0039 a0002c0003t0001g0003 a0002c0003t0002g0030 a0010c0011t0010g0054	30	159	0.1887	179	c.-91 others(196): Show c.-91+2048_-91+2049insGCTACTTGGGAGGCTGAGGCAGGAGAAT CGCATGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCATTG CACTCCAGCCTGGGTGACAGAGAGAGACTCCGTCTCAAAATAAATAAATA AATAAATGGAACATTTAAGGCTGGGCGTGGTGGCACACGCCTGTAATCCC A	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1270913	G G	GTGCCTGT others(172): Show GTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCATGA ACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCATTGCACTCCA GCCTGGGTGACAGAGAGAGACTCCGTCTCAAAATAAATAAATAAATAAAT GGAACATTTAAGGCTGGGCGTGGTGGCACA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA21309.hp2 NA19030.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0134 a0001c0002t0005g0135 a0001c0002t0005g0134 a0001c0002t0005g0135	2	159	0.0126	179	c.-91 others(196): Show c.-91+2034_-91+2035insTGCCTGTAATCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATCGCATGAACCCGGGAGGCGGAGGTTGCAGTGAGCCG AGATCGCACCATTGCACTCCAGCCTGGGTGACAGAGAGAGACTCCGTCTC AAAATAAATAAATAAATAAATGGAACATTTAAGGCTGGGCGTGGTGGCAC A	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	1/12			chrX	TogoVar
CTSD_chr11_1747755_1768927	1754499	T T	TGGGGATG others(172): Show TGGGGATGGAGGGATGGAGGGATGGAGGGGATGTGGGGATGGAGGGATGG AGGGATGGAGGGGATGGAGGGATGGAGGGGATGGAGGGATGGAGGAGATG GAGGGGATGGAGGGATGGAGGGATGGAGGGGATGGAGGGATGGAGGAGAT GGAGGGTCATGAAGAGTCACAGAGGGATGA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	386	0.0026	179	c.828 others(194): Show c.828-362_828-361insTCATCCCTCTGTGACTCTTCATGACCCTCC ATCTCCTCCATCCCTCCATCCCCTCCATCCCTCCATCCCTCCATCCCCTC CATCTCCTCCATCCCTCCATCCCCTCCATCCCTCCATCCCCTCCATCCCT CCATCCCTCCATCCCCACATCCCCTCCATCCCTCCATCCCTCCATCCCC	CTSD	ENSG00000117984.15	transcript	ENST00000236671.7	protein_coding	6/8			chr11	TogoVar
CYSLTR1_chrX_78266468_78332611	78269082	T T	TATTAATA others(172): Show TATTAATATAATATATAATAATATATTATATATAATATATAATATATTAT TATATATATTATAAATTATATAATATATATAATATATATATTATATATAA TATATTATATATTATATATATATAATAATAGTATATAATATATAATATAT TATATATAATATATTATATATTATATAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	240	0.0042	179	c.36 others(190): Show c.3650_*3651insTATTATATAATATATAATATATTATATATAATAT ATTATATATTATATACTATTATTATATATATATAATATATAATATATTAT ATATAATATATATATTATATATATTATATAATTTATAATATATATAATAA TATATTATATATTATATATAATATATTATTATATATTATATTAAT	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding		2385		chrX	TogoVar
DBNL_chr7_44039702_44074456	44043563	A A	ATGTGTGT others(172): Show ATGTGTGTGTGTATATACATATATATACTATATGTGTGTATATATATACA TATATACTATATGTGTGTATATATATACATATATACTATATGTGTGTGTA TATATATACATATATATACTATATATGTGTGTGTGTGTATATATATATAT ATATATATATATATATATATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG06807.hp1 HG02965.hp2 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0013 a0001c0002t0009 a0001c0002t0013	a0001c0002t0009g0011 a0001c0002t0013g0020 a0001c0002t0009g0011 a0001c0002t0013g0020	2	380	0.0053	179	c.-11 others(190): Show c.-1175_-1174insTGTGTGTGTGTATATACATATATATACTATATGT GTGTATATATATACATATATACTATATGTGTGTATATATATACATATATA CTATATGTGTGTGTATATATATACATATATATACTATATATGTGTGTGTG TGTATATATATATATATATATATATATATATATATTTTTTTTTTT	DBNL	ENSG00000136279.21	transcript	ENST00000448521.6	protein_coding		1138		chr7	TogoVar
DBNL_chr7_44039702_44074456	44043563	A A	ATGTGTGT others(172): Show ATGTGTGTGTGTATATACATATATATACTATATGTGTGTATATATATACA TATATACTATATGTGTGTATATATATACATATATACTATATGTGTGTGTA TATATATACATATATATACTATATATGTGTGTGTGTGTATATATATATAT ATATATATATATATATATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG03130.hp1 HG03139.hp2 others(1): Show HG02622.hp2 HG03130.hp1 HG03139.hp2 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0013 a0001c0002t0009 a0001c0002t0013	a0001c0002t0009g0011 a0001c0002t0013g0020 a0001c0002t0009g0011 a0001c0002t0013g0020	4	380	0.0105	179	c.-11 others(190): Show c.-1175_-1174insTGTGTGTGTGTATATACATATATATACTATATGT GTGTATATATATACATATATACTATATGTGTGTATATATATACATATATA CTATATGTGTGTGTATATATATACATATATATACTATATATGTGTGTGTG TGTATATATATATATATATATATATATATATATTTTTTTTTTTTT	DBNL	ENSG00000136279.21	transcript	ENST00000448521.6	protein_coding		1138		chr7	TogoVar
DCDC1_chr11_30858603_31374739	31213100	C C	CCTCTCTC others(172): Show CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTC CCTCCCTCCCTCCCTCCCTCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCCCTCCCTCCCTCCCT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0133 a0003c0004t0002g0133	1	152	0.0066	179	c.122 others(200): Show c.1221+28349_1221+28350insAGGGAGGGAGGGAGGGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGAGGGAGGGAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAG	DCDC1	ENSG00000170959.15	transcript	ENST00000684477.1	protein_coding	9/38			chr11	TogoVar
DHRSX_chrX_2214506_2505976	2276887	A A	AGGGGAAA others(172): Show AGGGGAAAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAG GGCAAACGAGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAGAGA GAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAG AGAGGGAGAGAGAAGGAAGAGGAGGAAATG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	50	0.0200	179	c.389 others(196): Show c.389-9941_389-9940insCATTTCCTCCTCTTCCTTCTCTCTCCCT CTCTCGTTTGCCCTCCCTCTCTCTCCCTGTTCCCTCTCCATCTCTCTTTC TCTCTCTTCCCCCATTTCCTCCTCTTCCTTCTCTCTCCCTCTCTCGTTTG CCCTCCCTCTCTCTCCCTGTTCCCTCTCCATCTCTCTTTCTCTCTTTCCC C	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6			chrX	TogoVar
DIP2B_chr12_50499985_50753657	50598735	C C	CCCCCCTC others(172): Show CCCCCCTCCCCTCTCCCCCTCTCCCCCTCCCCCTCCCCTCTCCCCCCTCT CCCCTCCCCTCCCCCTCCCCTCTTCCCCTCTCCCCTCCCCTCTTCCCCCT CTCCCCTCCCCTCTCCCCCCTCCCCTCTCCCCCTCTCCCCCTCCCCTCTC CCCCTCTCCCCCTCCCCTCCCCTCTCCCCT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0082 a0001c0001t0021g0082	1	284	0.0035	179	c.101 others(198): Show c.101-27231_101-27230insTCTCCCCCTCTCCCCCTCCCCCTCCC CTCTCCCCCCTCTCCCCTCCCCTCCCCCTCCCCTCTTCCCCTCTCCCCTC CCCTCTTCCCCCTCTCCCCTCCCCTCTCCCCCCTCCCCTCTCCCCCTCTC CCCCTCCCCTCTCCCCCTCTCCCCCTCCCCTCCCCTCTCCCCTCCCCCTC CCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50598754	T T	TCTCCCCT others(172): Show TCTCCCCTCCCCCTCCCCTCTCCCCCTCTCCCCTCCCCTCCCCCTCCCGT CTTCCCCTCTCCCCTCCCCTCTTCCCCCTCTCCCCTCCCCTCTCCCCCCT CCCCTCTCCCCCTCTCCCCCTCCCCTCTCCCCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCTC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	284	0.0035	179	c.101 others(198): Show c.101-27221_101-27220insTCCCCTCCCCCTCCCCTCTCCCCCTC TCCCCTCCCCTCCCCCTCCCGTCTTCCCCTCTCCCCTCCCCTCTTCCCCC TCTCCCCTCCCCTCTCCCCCCTCCCCTCTCCCCCTCTCCCCCTCCCCTCT CCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC TCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	478206	A A	AGGGAGGG others(172): Show AGGGAGGGGAGGGGAGAAGGGAGGGGAGGGGAGAAGGGAGGGGAGGGGAG GAGAAGGGAGGGGAGGGGAGGAGAAGGGAGGGGAGGGGAGGAGAAGGGAG GGGAGGGGAGGAGAAGGGAGGGGAGGGGAGGAGAAGGGAGGAGAAGGGAG GGGAGGGGAGGAGAGGGGAGAAGAGGGGAG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0062 a0001c0003t0002g0062	1	88	0.0114	179	c.158 others(196): Show c.158-5658_158-5657insCTCCCCTCTTCTCCCCTCTCCTCCCCTC CCCTCCCTTCTCCTCCCTTCTCCTCCCCTCCCCTCCCTTCTCCTCCCCTC CCCTCCCTTCTCCTCCCCTCCCCTCCCTTCTCCTCCCCTCCCCTCCCTTC TCCTCCCCTCCCCTCCCTTCTCCCCTCCCCTCCCTTCTCCCCTCCCCTCC C	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DOCK10_chr2_224760090_225047468	225018608	T T	TATATATG others(172): Show TATATATGTAATATTATATATATAATATATATGTAATATTACATATATAT ATAATATATATGTAATATTATATATATAATATATATGTAATATTATATAT ATATAATATATATGTAATATTATATATATAATATATATGTAATATTATAT ATATAATATATATGTAATATTATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03225.hp2 HG03471.hp1 others(1): Show HG02723.hp2 HG03225.hp2 HG03471.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0001 a0002c0002t0001 a0002c0003t0002 a0001c0001t0001 a0002c0002t0001 a0002c0003t0002	a0001c0001t0001g0074 a0002c0002t0001g0064 a0002c0002t0001g0065 others(1): Show a0001c0001t0001g0074 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0003t0002g0055	4	172	0.0233	179	c.123 others(198): Show c.123+23643_123+23644insTATATATATAATATTACATATATATT ATATATATAATATTACATATATATTATATATATAATATTACATATATATT ATATATATATAATATTACATATATATTATATATATAATATTACATATATA TTATATATATATGTAATATTACATATATATTATATATATAATATTACATA TAT	DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	1/55			chr2	TogoVar
DOCK11_chrX_118490815_118691147	118648004	T T	TTATATAT others(172): Show TTATATATAATATATAATAATATATAATATATTATAATAATATAATATAT AATAATATATAATATATTATAATAATATAATATATAATAATATATAATAT ATTATAATAATATAATATATAATAATATATAATATATTATAATAATATAA TATATAATAATATATAATATATTATAATAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01257.hp2 HG02698.hp1 others(5): Show HG01123.hp1 HG01257.hp2 HG02698.hp1 HG02896.hp2 HG02897.hp2 HG06807.hp2 NA18522.hp1 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0001c0001t0001 a0003c0005t0001	a0001c0001t0001g0021 a0001c0001t0001g0136 a0001c0001t0001g0165 others(5): Show a0001c0001t0001g0021 a0001c0001t0001g0136 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0188 a0003c0005t0001g0105 a0003c0005t0001g0157	8	211	0.0379	179	c.439 others(196): Show c.4399-937_4399-936insTATAATATATAATAATATATAATATATT ATAATAATATAATATATAATAATATATAATATATTATAATAATATAATAT ATAATAATATATAATATATTATAATAATATAATATATAATAATATATAAT ATATTATAATAATATAATATATAATAATATATAATATATTATAATAATAT A	DOCK11	ENSG00000147251.16	transcript	ENST00000276202.9	protein_coding	40/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
DPEP1_chr16_89608642_89643433	89618947	T T	TGCTCCCC others(172): Show TGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCCGCTCCCCTCCCTGCAGCT CCCTGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTC CCTGCAGCTCCCTGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCG CTCCCCTCCCTGCAGCTCCCTGCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0179 a0002c0002t0001g0179	1	250	0.0040	179	c.-10 others(198): Show c.-107+5245_-107+5246insTCCCTGCCCCCCCCGCTCCCCTCCCT GCAGCTCCCTGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCT CCCCTCCCTGCAGCTCCCTGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGC CCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCCGCTCCCCTCCCTGC AGC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89618964	C C	CTCCCTGC others(172): Show CTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCC CTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCC CCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAG CTCCCTGCCCCCCTGCTCCCCTCCCTGCAG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	250	0.0040	179	c.-10 others(198): Show c.-107+5245_-107+5246insTCCCTGCCCCCCTGCTCCCCTCCCTG CAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCT CCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTG CCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTG CAG	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10			chr16	TogoVar
DPEP1_chr16_89608642_89643433	89634658	C C	CCCTTCCT others(172): Show CCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTC CCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCC CTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCC TTCCTTCTCCTTTCCCCTTCCTTCTCCTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	250	0.0040	179	c.105 others(196): Show c.105-1248_105-1247insTTCCTTCTCCTTTCCCTTCCTTCTCCTT TCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTT TCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTC CCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTC C	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DRD1_chr5_175435036_175449182	175445687	A A	AAAACGGT others(172): Show AAAACGGTGAGGACATAACAGGATTGTCATAACTATTAACTGAGACGGTG TTTCCAGAGGGCTTGGCACCAAAACCTAGGACCCCGTCAGGCATGGATCC CCCAAGTCCCACTGCCTGACTGTCTGCACATGTGGCTGCAATGTGCACTC TCTCCTCTCTGAGCTCGGGTCTCCTCTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0027 a0003c0006t0001g0027	1	490	0.0020	179	c.-24 others(190): Show c.-2473_-2472insCACAGAGGAGACCCGAGCTCAGAGAGGAGAGAGT GCACATTGCAGCCACATGTGCAGACAGTCAGGCAGTGGGACTTGGGGGAT CCATGCCTGACGGGGTCCTAGGTTTTGGTGCCAAGCCCTCTGGAAACACC GTCTCAGTTAATAGTTATGACAATCCTGTTATGTCCTCACCGTTT	DRD1	ENSG00000184845.4	transcript	ENST00000393752.3	protein_coding		1506		chr5	TogoVar
DTD1_chr20_18583054_18771644	18695427	C C	CCCCCTCC others(172): Show CCCCCTCCCCTCCCCTCCCTGTCCCTTCCTCCCTCCCGCCCTCCCTTCCT TCCTTCCTTTTCTTTCCCTCCCTCCTTCCTTTACTTCTTCCCTTCCCTTG CTTTCCTTCCCCTTCCCTTTCCTTCCCTTTCCCTTCCCCTTCTTCCCCTT CCCCTTCTTCCCCTTCCTGTTCCTCTTCTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0366 a0001c0001t0033g0366	1	398	0.0025	179	c.478 others(198): Show c.478-48668_478-48667insCCCCTCCCCTCCCTGTCCCTTCCTCC CTCCCGCCCTCCCTTCCTTCCTTCCTTTTCTTTCCCTCCCTCCTTCCTTT ACTTCTTCCCTTCCCTTGCTTTCCTTCCCCTTCCCTTTCCTTCCCTTTCC CTTCCCCTTCTTCCCCTTCCCCTTCTTCCCCTTCCTGTTCCTCTTCTTCC CCT	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
ECPAS_chr9_111355685_111489383	111387633	A A	AGACAGTG others(172): Show AGACAGTGTCTCACTCATCATCAGTGCAGTTACTGAGGGACAGAGTCTCA CTCATCGTCAGTGCAGTTACTGAGAGACAGTGTCTCACTCGTCAGTGCAG TTATTGAGGGACAGTGTCTCACTCATCGTCAGTGCAGTTATTGAGGGACA GAGTCTCACTCGTCAGTGCAGTTATTGAGG	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	354	0.0028	179	c.344 others(198): Show c.3448-1178_3448-1177insCCTCAATAACTGCACTGACGAGTGAG ACTCTGTCCCTCAATAACTGCACTGACGATGAGTGAGACACTGTCCCTCA ATAACTGCACTGACGAGTGAGACACTGTCTCTCAGTAACTGCACTGACGA TGAGTGAGACTCTGTCCCTCAGTAACTGCACTGATGATGAGTGAGACACT GTC	ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding	31/49			chr9	TogoVar
EIPR1_chr2_3183970_3382818	3316062	C C	CTACCACC others(172): Show CTACCACCATCCTCACCACCATCCCCATACACACCCCCACCACCATCACC ACCATCCCCATCCACAGCCCCTACCACCATCACCACCATCCCCATACACA CCCCCTACCACCACCATCACCACCATCCCCATCCACAGCCCCTACCACCA CCATCACCACCATCCCCATACACACCCCCT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	250	0.0040	179	c.259 others(198): Show c.259+21954_259+21955insAGGGGGTGTGTATGGGGATGGTGGTG ATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGTGATGGTGGTGGTAG GGGGTGTGTATGGGGATGGTGGTGATGGTGGTAGGGGCTGTGGATGGGGA TGGTGGTGATGGTGGTGGGGGTGTGTATGGGGATGGTGGTGAGGATGGTG GTA	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EPS8L1_chr19_55070869_55092923	55076103	G G	GCCTGGAT others(172): Show GCCTGGATTCCTGGGTCTGAGGGAGGGACTGGGGGCCTGGTCTCCTGAGT CTAAGGGAAGAAGGATTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGG GCTGGGGTCCTGGACTCCTGGGTCTGAGGGAGGAGGAGATGGGGCCTGGA CTCCTGGGTCTGAGGGAGGAGGGCTGGGGT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02723.hp2 HG02886.hp2 others(2): Show HG02486.hp2 HG02723.hp2 HG02886.hp2 HG02897.hp2 HG03195.hp2	a0005 a0009 a0005 a0009	a0005c0005 a0009c0013 a0005c0005 a0009c0013	a0005c0005t0001 a0009c0013t0001 a0005c0005t0001 a0009c0013t0001	a0005c0005t0001g0040 a0005c0005t0001g0084 a0005c0005t0001g0086 others(1): Show a0005c0005t0001g0040 a0005c0005t0001g0084 a0005c0005t0001g0086 a0009c0013t0001g0085	5	340	0.0147	179	c.-38 others(194): Show c.-38+190_-38+191insTTCCTGGGTCTGAGGGAGGGACTGGGGGCC TGGTCTCCTGAGTCTAAGGGAAGAAGGATTGGGGGCCTGGACTCCTGGGT CTGAGGGAGGAGGGCTGGGGTCCTGGACTCCTGGGTCTGAGGGAGGAGGA GATGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGCTGGGGTCCTGGA	EPS8L1	ENSG00000131037.15	transcript	ENST00000201647.11	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
ERICH1_chr8_659200_736224	700239	G G	GCACACGC others(172): Show GCACACGCGCACAGGCCCGCACAGGCGCACAGACCCGCACAGGCCCGCAC ACGCGCACAGACCCGCACACGCGCACAGGCCCGCACACGCGCACAGGCCC GCACAGGCGCACAGGCCCGCACACGCGCACAGGCCCGCACAGGCGCACAG GCCCGCACACGCGCACAGGCCCTCACAGGC	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0317 a0001c0001t0002g0317	1	378	0.0027	179	c.170 others(196): Show c.170-7628_170-7627insGCCTGTGAGGGCCTGTGCGCGTGTGCGG GCCTGTGCGCCTGTGCGGGCCTGTGCGCGTGTGCGGGCCTGTGCGCCTGT GCGGGCCTGTGCGCGTGTGCGGGCCTGTGCGCGTGTGCGGGTCTGTGCGC GTGTGCGGGCCTGTGCGGGTCTGTGCGCCTGTGCGGGCCTGTGCGCGTGT G	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH1_chr8_659200_736224	700346	T T	TCCGCACA others(172): Show TCCGCACACGCGCACAGGCCCGCACAGGCGCACAGGCCCGCACAGGCGCA CAGGCCCGCACACGCGCACAGGCCCTCACAGGCCACAGACCCGCACAGGC GCACAGACCCGCACAGGCGCACAGACCCGCACACGCGCACAGGCCCACAC AGGCGCACAGACCCGCACACGCGCACAGGC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0078 a0003c0004t0001g0078	1	378	0.0027	179	c.170 others(196): Show c.170-7735_170-7734insGCCTGTGCGCGTGTGCGGGTCTGTGCGC CTGTGTGGGCCTGTGCGCGTGTGCGGGTCTGTGCGCCTGTGCGGGTCTGT GCGCCTGTGCGGGTCTGTGGCCTGTGAGGGCCTGTGCGCGTGTGCGGGCC TGTGCGCCTGTGCGGGCCTGTGCGCCTGTGCGGGCCTGTGCGCGTGTGCG G	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
FAF2_chr5_176443385_176515074	176451811	C C	CACATATA others(172): Show CACATATATATATACATATATATTATACACATATATATATACATATATAT ATACACATATATATATACATATATACTACACATATATATATACATTATAT ATACACATATATATATACATATATATATACACATATATATATACATATAT ATATACACATATATATATACATATATATAT	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0355 a0001c0001t0001g0355	1	372	0.0027	179	c.63+ others(194): Show c.63+3344_63+3345insTATATATATACATATATATTATACACATAT ATATATACATATATATATACACATATATATATACATATATACTACACATA TATATATACATTATATATACACATATATATATACATATATATATACACAT ATATATATACATATATATATACACATATATATATACATATATATATACA	FAF2	ENSG00000113194.13	transcript	ENST00000261942.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
FAM83F_chr22_39989954_40048534	40047439	T T	TAAAAATA others(172): Show TAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCC AGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGA GCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGA GCGAGACTCCGTCTCAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 NA19043.hp1 HG02886.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0047 a0001c0001t0039 a0001c0001t0047	a0001c0001t0039g0194 a0001c0001t0047g0090 a0001c0001t0039g0194 a0001c0001t0047g0090	2	234	0.0086	179	c.17 others(192): Show c.17874_*17875insAAAAATACAAAAAAATTAGCCGGGCGTGGTGG CGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCG TGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACT CCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA	FAM83F	ENSG00000133477.17	transcript	ENST00000333407.11	protein_coding		3906		chr22	TogoVar
FGD6_chr12_95071749_95222467	95149112	C C	CATATATA others(172): Show CATATATATTATATATTATATAATATATATAGCATATATATTATATAATA TTATATATATTATATAATATATAGCATATATATTATATAATATTATATAT ATTATATAATATATAGCATATATATTATATAATATTATATATATTATATA ATATATAGCATATATATTATATAATATTAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0064 a0001c0012t0064	a0001c0012t0064g0212 a0001c0012t0064g0212	1	384	0.0026	179	c.268 others(198): Show c.2685+3698_2685+3699insATAATATTATATAATATATATGCTAT ATATTATATAATATATATAATATTATATAATATATATGCTATATATTATA TAATATATATAATATTATATAATATATATGCTATATATTATATAATATAT ATAATATTATATAATATATATGCTATATATATTATATAATATATAATATA TAT	FGD6	ENSG00000180263.14	transcript	ENST00000343958.9	protein_coding	5/20			chr12	TogoVar
FGD6_chr12_95071749_95222467	95195689	T T	TCACGCCT others(172): Show TCACGCCTGTAAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACC TGAGGTCGGGAGTTCGAGACCAGACCTGGCCATGTTGGCCATGTTGGCCA GGTCTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCGCCTCAGCCTCC CAAAGTGCTGGGATTACAGGCATGAGCCAC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0221 a0002c0002t0003g0221	1	384	0.0026	179	c.244 others(200): Show c.2441+13153_2441+13154insGTGGCTCATGCCTGTAATCCCAGC ACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCGGGAGTTCGAGAC CAGACCTGGCCAACATGGCCAACATGGCCAGGTCTGGTCTCGAACTCCCG ACCTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTTACAG GCGTG	FGD6	ENSG00000180263.14	transcript	ENST00000343958.9	protein_coding	2/20			chr12	TogoVar
FGD6_chr12_95071749_95222467	95195689	T T	TCACGCCT others(172): Show TCACGCCTGTAAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACC TGAGGTCGGGAGTTCGAGACCAGACCTGGCCATGTTGGCCATGTTGGCCA GGTCTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCGCCTCAGCCTCC CAAAGTGCTGGGATTACAGGCGTGAGCCAC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03225.hp1 HG03209.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0005 a0001c0007t0036 a0001c0001t0005 a0001c0007t0036	a0001c0001t0005g0194 a0001c0007t0036g0320 a0001c0001t0005g0194 a0001c0007t0036g0320	2	384	0.0052	179	c.244 others(200): Show c.2441+13153_2441+13154insGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCGGGAGTTCGAGAC CAGACCTGGCCAACATGGCCAACATGGCCAGGTCTGGTCTCGAACTCCCG ACCTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTTACAG GCGTG	FGD6	ENSG00000180263.14	transcript	ENST00000343958.9	protein_coding	2/20			chr12	TogoVar
FGF21_chr19_48750524_48763330	48756591	A A	ATCTGGGC others(172): Show ATCTGGGCCCCTGGGTCTGAGGGAGGAGGGGCTGGGTCTGGACCCCTGGG TCTGAGGGAGGAGGGGCTGGGGATCTGGGCCCCTGGGTCTGAGGGAGGAG GGGCTGGGTCTGGACCCCTGGGTCTGAGGGAGGAGGGGCTGGGGATCTGG GCCCCTGGGTCTGAGGGAGGAGGGGCTGGG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0056 a0001c0004t0001g0056	1	456	0.0022	179	c.235 others(194): Show c.235+125_235+126insGCCCCTGGGTCTGAGGGAGGAGGGGCTGGG TCTGGACCCCTGGGTCTGAGGGAGGAGGGGCTGGGGATCTGGGCCCCTGG GTCTGAGGGAGGAGGGGCTGGGTCTGGACCCCTGGGTCTGAGGGAGGAGG GGCTGGGGATCTGGGCCCCTGGGTCTGAGGGAGGAGGGGCTGGGTCTGG	FGF21	ENSG00000105550.10	transcript	ENST00000593756.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
FOXJ3_chr1_42171548_42340235	42324115	G G	GTATATAT others(172): Show GTATATATACTGTGTATATATACTGTATATACACAGTGTATATATACAGT ATATATACTGTATATACACAGTGTATATATACTGTATATACACAGTATAT ATACACTGTGTATATACAGTATATATACACTGTGTATATACAGTATATAT ACTGTATATATACACTGTGTATATACAGTA	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	332	0.0030	179	c.-18 others(198): Show c.-18+10943_-18+10944insTACTGTATATACACAGTGTATATATA CAGTATATATACTGTATATACACAGTGTATATATACTGTATATACACAGT GTATATATACTGTGTATATACAGTATATATACACTGTGTATATACAGTAT ATATACTGTATATATACACTGTGTATATACAGTATATATACACAGTATAT ATA	FOXJ3	ENSG00000198815.9	transcript	ENST00000361346.6	protein_coding	1/12			chr1	TogoVar
FOXJ3_chr1_42171548_42340235	42324125	A A	AGTGTATA others(172): Show AGTGTATATATACAGTATATATACTGTATATACACAGTGTATATATACTG TATATACACAGTGTATATACACTGTGTATATACAGTATATATACACTGTG TATATACAGTATATATACACTGTGTATATACAGTATATATACTGTATATA TACACTGTGTATATACAGTATATATACACT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0053 a0002c0002t0001g0053	1	332	0.0030	179	c.-18 others(198): Show c.-18+10933_-18+10934insAGTGTATATATACTGTATATACACAG TGTATATATACAGTATATATACTGTATATACACAGTGTATATATACTGTA TATACACAGTGTATATATACTGTATATACACAGTGTATATACACTGTGTA TATACAGTATATATACACTGTGTATATACAGTATATATACTGTATATATA CAC	FOXJ3	ENSG00000198815.9	transcript	ENST00000361346.6	protein_coding	1/12			chr1	TogoVar
FOXJ3_chr1_42171548_42340235	42324125	A A	AGTGTATA others(172): Show AGTGTATATATACAGTATATATACTGTATATACACAGTGTATATATACTG TATATACACAGTGTATATACACTGTGTATATACAGTATATATACACTGTG TATATACAGTATATATACTGTATATATACACTGTGTATATACAGTATATA TACACTGTGTATATACAGTATATATACACT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0225 a0001c0001t0001g0226	2	332	0.0060	179	c.-18 others(198): Show c.-18+10933_-18+10934insAGTGTATATATACTGTATATACACAG TGTATATATACTGTATATACACAGTGTATATATACAGTATATATACTGTA TATACACAGTGTATATATACTGTATATACACAGTGTATATACACTGTGTA TATACAGTATATATACACTGTGTATATACAGTATATATACTGTATATATA CAC	FOXJ3	ENSG00000198815.9	transcript	ENST00000361346.6	protein_coding	1/12			chr1	TogoVar
FOXJ3_chr1_42171548_42340235	42324125	A A	AGTGTATA others(172): Show AGTGTATATATACAGTATATATACTGTATATACACAGTGTATATATACTG TATATACACAGTGTATATATACTGTATATACACAGTATATATACACTGTG TATATACAGTATATATACACTGTGTATATACAGTATATATACTGTATATA TACACTGTGTATATACAGTATATATACACT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02280.hp2 HG02818.hp1 HG01943.hp2 HG02280.hp2 HG02818.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0029 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0029 a0002c0002t0001g0039 a0002c0002t0001g0040	3	332	0.0090	179	c.-18 others(198): Show c.-18+10933_-18+10934insAGTGTATATATACTGTATATACACAG TGTATATATACAGTATATATACTGTATATACACAGTGTATATATACTGTA TATACACAGTGTATATATACTGTGTATATACAGTATATATACACTGTGTA TATACAGTATATATACACTGTGTATATACAGTATATATACTGTATATATA CAC	FOXJ3	ENSG00000198815.9	transcript	ENST00000361346.6	protein_coding	1/12			chr1	TogoVar
FUT1_chr19_48743011_48757641	48756591	A A	ATCTGGGC others(172): Show ATCTGGGCCCCTGGGTCTGAGGGAGGAGGGGCTGGGTCTGGACCCCTGGG TCTGAGGGAGGAGGGGCTGGGGATCTGGGCCCCTGGGTCTGAGGGAGGAG GGGCTGGGTCTGGACCCCTGGGTCTGAGGGAGGAGGGGCTGGGGATCTGG GCCCCTGGGTCTGAGGGAGGAGGGGCTGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	438	0.0023	179	c.-41 others(190): Show c.-4105_-4104insCCCAGCCCCTCCTCCCTCAGACCCAGGGGCCCAG ATCCCCAGCCCCTCCTCCCTCAGACCCAGGGGTCCAGACCCAGCCCCTCC TCCCTCAGACCCAGGGGCCCAGATCCCCAGCCCCTCCTCCCTCAGACCCA GGGGTCCAGACCCAGCCCCTCCTCCCTCAGACCCAGGGGCCCAGA	FUT1	ENSG00000174951.12	transcript	ENST00000645652.2	protein_coding		3951		chr19	TogoVar
GABRG3_chr15_26966181_27546984	27455533	T T	TATGCTAC others(172): Show TATGCTACGTGTGGTTTGTGAGTTTGTGTGTGGTGTGTGTGTGGTGTGTA TGTGTGCTATGTGTGTGTGCATTTGTATATATGTGCATGGTATATGTATG CCGTGGGTGGTTTGTGTGTGTGATGTGTGTGTGTATGTGTGCTGTGTGTG TGCATTTGTGTATATGTGCATGGTGTGTGC	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA18522.hp1 HG02922.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0002 a0001c0001t0001 a0001c0005t0002	a0001c0001t0001g0005 a0001c0005t0002g0055 a0001c0001t0001g0005 a0001c0005t0002g0055	2	92	0.0217	179	c.575 others(198): Show c.575-25111_575-25110insCGTGTGGTTTGTGAGTTTGTGTGTGG TGTGTGTGTGGTGTGTATGTGTGCTATGTGTGTGTGCATTTGTATATATG TGCATGGTATATGTATGCCGTGGGTGGTTTGTGTGTGTGATGTGTGTGTG TATGTGTGCTGTGTGTGTGCATTTGTGTATATGTGCATGGTGTGTGCATG CTA	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr15	TogoVar

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