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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DPP9_chr19_4670227_4728842	4672238	TATATGAA others(19): Show TATATGAATATATATTCATATATATGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp1 NA19083.hp1 NA18984.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0167 a0001c0001t0003g0084 a0001c0001t0001g0167 a0001c0001t0003g0084	2	308	0.0065	-26	c.43 others(37): Show c.4300_*4325delTCATATATATGAATATATATTCATAT	DPP9	ENSG00000142002.19	transcript	ENST00000262960.14	protein_coding		2988		chr19	TogoVar
DPYD_chr1_97072743_97926034	97134012	AAAATATA others(19): Show AAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	1	41	0.0244	-26	c.262 others(47): Show c.2623-35406_2623-35381delATATATATATATATATATATATAT TT	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	20/22			chr1	TogoVar
DPYD_chr1_97072743_97926034	97586465	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0005 a0002c0002t0002g0005	1	3	0.3333	-26	c.112 others(45): Show c.1128+6727_1128+6752delATATATATATATATATATATATATAT	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	10/22			chr1	TogoVar
DPYSL2_chr8_26509031_26663175	26622450	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTGTGTGTATA	G G	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0114 a0001c0002t0001g0114	1	314	0.0032	-26	c.629 others(43): Show c.629-1671_629-1646delGTATATGTGTGTGTGTGTGTGTGTGT	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPYSL4_chr10_132181948_132210759	132205956	CAGCCAAC others(19): Show CAGCCAACATCCAGGGCGGGACAGAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01106.hp2 HG01109.hp2 others(6): Show HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG02451.hp1 HG03516.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0003c0025	a0001c0001t0003 a0001c0002t0003 a0001c0006t0015 others(1): Show a0001c0001t0003 a0001c0002t0003 a0001c0006t0015 a0003c0025t0003	a0001c0001t0003g0054 a0001c0002t0003g0019 a0001c0002t0003g0028 others(2): Show a0001c0001t0003g0054 a0001c0002t0003g0019 a0001c0002t0003g0028 a0001c0006t0015g0159 a0003c0025t0003g0184	9	408	0.0221	-26	c.10 others(37): Show c.1027_*1052delAGCCAACATCCAGGGCGGGACAGAGG	DPYSL4	ENSG00000151640.13	transcript	ENST00000338492.9	protein_coding		198		chr10	TogoVar
DPYSL5_chr2_26843132_26955351	26931199	GTGTGTAT others(19): Show GTGTGTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG06807.hp2 HG02976.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0002t0002 a0001c0001t0013 a0001c0002t0002	a0001c0001t0013g0047 a0001c0002t0002g0035 a0001c0001t0013g0047 a0001c0002t0002g0035	2	180	0.0111	-26	c.670 others(41): Show c.670-439_670-414delGTGTATATATATATATATATATATAT	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYSL5_chr2_26843132_26955351	26932121	AAGAGAAA others(19): Show AAGAGAAAGAAAGAAAGAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0039 a0001c0002t0039	a0001c0002t0039g0019 a0001c0002t0039g0019	1	219	0.0046	-26	c.714 others(41): Show c.714+439_714+464delGAGAAAGAAAGAAAGAGAAAGAAAGA	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DRC7_chr16_57689806_57736805	57691083	GAGGAGGA others(19): Show GAGGAGGAGGAGGAAGAAGGAGGGAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02818.hp2 HG02965.hp2 HG02615.hp1 HG02818.hp2 HG02965.hp2	a0001 a0011 a0017 a0001 a0011 a0017	a0001c0001 a0011c0013 a0017c0044 a0001c0001 a0011c0013 a0017c0044	a0001c0001t0009 a0011c0013t0001 a0017c0044t0003 a0001c0001t0009 a0011c0013t0001 a0017c0044t0003	a0001c0001t0009g0273 a0011c0013t0001g0223 a0017c0044t0003g0304 a0001c0001t0009g0273 a0011c0013t0001g0223 a0017c0044t0003g0304	3	385	0.0078	-26	c.-39 others(37): Show c.-3937_-3912delAGGAGGAGGAGGAAGAAGGAGGGAGA	DRC7	ENSG00000159625.15	transcript	ENST00000360716.8	protein_coding		3722		chr16	TogoVar
DRD3_chr3_114122580_114184052	114156717	CTTTCTTT others(19): Show CTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00558.hp2 others(25): Show HG00323.hp1 HG00323.hp2 HG00558.hp2 HG01081.hp2 HG01109.hp1 HG01243.hp1 HG01943.hp2 HG01952.hp1 HG02056.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02602.hp1 HG02717.hp2 HG02738.hp2 HG03453.hp2 HG03540.hp1 HG03927.hp2 HG04204.hp2 NA18949.hp1 NA18972.hp2 NA18994.hp1 NA18994.hp2 NA19055.hp1 NA19058.hp2 NA19066.hp2 NA19080.hp2 NA19240.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0002c0001 others(1): Show a0001c0002 a0001c0003 a0002c0001 a0003c0005	a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 others(7): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0003t0005 a0001c0003t0006 a0002c0001t0001 a0002c0001t0002 a0002c0001t0011 a0003c0005t0001 a0003c0005t0003	a0001c0002t0001g0194 a0001c0002t0001g0197 a0001c0002t0001g0198 others(24): Show a0001c0002t0001g0194 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0238 a0001c0002t0001g0251 a0001c0002t0003g0052 a0001c0002t0003g0268 a0001c0002t0004g0060 a0001c0002t0004g0303 a0001c0003t0005g0033 a0001c0003t0006g0037 a0002c0001t0001g0001 a0002c0001t0001g0010 a0002c0001t0001g0016 a0002c0001t0001g0083 a0002c0001t0001g0084 a0002c0001t0001g0085 a0002c0001t0001g0103 a0002c0001t0001g0162 a0002c0001t0001g0185 a0002c0001t0002g0006 a0002c0001t0002g0062 a0002c0001t0002g0164 a0002c0001t0011g0044 a0003c0005t0001g0213 a0003c0005t0003g0211 a0003c0005t0003g0214	28	357	0.0784	-26	c.383 others(43): Show c.383+3012_383+3037delAAGAAAGAAAGAAAGAAAGAAAGAAA	DRD3	ENSG00000151577.14	transcript	ENST00000383673.5	protein_coding	3/6			chr3	TogoVar
DRG1_chr22_31394604_31439452	31398436	TGGGTTAA others(19): Show TGGGTTAAGCCTGGCCTGTCGACTGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0029 a0001c0001t0005g0029	1	348	0.0029	-26	c.-12 others(37): Show c.-1247_-1222delGGGTTAAGCCTGGCCTGTCGACTGTG	DRG1	ENSG00000185721.13	transcript	ENST00000331457.9	protein_coding		1167		chr22	TogoVar
DRG2_chr17_18082948_18112969	18090382	ATATATAT others(19): Show ATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02965.hp1 HG02451.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0144 a0001c0001t0001g0037 a0001c0001t0001g0144	2	415	0.0048	-26	c.64+ others(41): Show c.64+2297_64+2322delATATATATATATATATATATATATTT	DRG2	ENSG00000108591.10	transcript	ENST00000225729.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
DROSHA_chr5_31395494_31537093	31436741	AACACACA others(19): Show AACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0088 a0001c0003t0015g0088	1	17	0.0588	-26	c.294 others(43): Show c.2942+472_2942+497delGTGTGTGTGTGTGTGTGTGTGTGTGT	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	24/35			chr5	TogoVar
DSCAML1_chr11_117422772_117802216	117757573	TACACACA others(19): Show TACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0002 a0001c0017t0002	a0001c0017t0002g0009 a0001c0017t0002g0009	1	19	0.0526	-26	c.511 others(45): Show c.511+19192_511+19217delGTGTGTGTGTGTGTGTGTGTGTGTGT	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
DTD1_chr20_18583054_18771644	18708297	AATATATA others(19): Show AATATATATATTTTATATATATATTAT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	304	0.0033	-26	c.478 others(45): Show c.478-35772_478-35747delATATATTTTATATATATATTATATAT	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
DTNBP1_chr6_15517807_15668028	15548438	GACACACA others(19): Show GACACACACACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	108	0.0093	-26	c.512 others(45): Show c.512-15069_512-15044delGTGTGTGTGTGTGTGTGTGTGTGTGT	DTNBP1	ENSG00000047579.20	transcript	ENST00000344537.10	protein_coding	7/9			chr6	TogoVar
DTNBP1_chr6_15517807_15668028	15585064	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01175.hp1 HG03831.hp2 HG00639.hp2 HG01175.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0216 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0216	3	8	0.3750	-26	c.511 others(43): Show c.511+7969_511+7994delATATATATATATATATATATATATAT	DTNBP1	ENSG00000047579.20	transcript	ENST00000344537.10	protein_coding	7/9			chr6	TogoVar
DUOX1_chr15_45124994_45170574	45153522	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02717.hp2 HG03540.hp1 others(3): Show HG02630.hp2 HG02717.hp2 HG03540.hp1 HG03579.hp1 NA18977.hp1 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0018 a0002c0002 a0002c0018	a0002c0002t0003 a0002c0002t0005 a0002c0018t0005 a0002c0002t0003 a0002c0002t0005 a0002c0018t0005	a0002c0002t0003g0058 a0002c0002t0005g0012 a0002c0002t0005g0112 others(3): Show a0002c0002t0003g0058 a0002c0002t0005g0012 a0002c0002t0005g0112 a0002c0002t0005g0118 a0002c0002t0005g0169 a0002c0018t0005g0173	6	384	0.0156	-26	c.352 others(41): Show c.3524+45_3524+70delGTGTGTGTGTGTGTGTGTGTGTGTAT	DUOX1	ENSG00000137857.18	transcript	ENST00000389037.7	protein_coding	26/33		INFO_REALIGN_3_PRIME	chr15	TogoVar
DUS2_chr16_68018284_68084320	68035884	TTATATAT others(19): Show TTATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00639.hp2 others(42): Show HG00280.hp2 HG00408.hp2 HG00639.hp2 HG01109.hp1 HG01192.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01515.hp2 HG01993.hp1 HG02074.hp2 HG02293.hp1 HG02293.hp2 HG02572.hp1 HG02717.hp1 HG02735.hp1 HG02886.hp1 HG02976.hp1 HG03017.hp2 HG03654.hp1 HG03704.hp1 HG03927.hp2 HG03942.hp2 HG04199.hp2 HG04204.hp2 NA18747.hp2 NA18940.hp2 NA18952.hp2 NA18954.hp1 NA18961.hp1 NA18970.hp1 NA18970.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18994.hp1 NA18995.hp2 NA19055.hp1 NA19057.hp2 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA20805.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0008	a0001c0001 a0001c0006 a0001c0011 others(3): Show a0001c0001 a0001c0006 a0001c0011 a0003c0004 a0004c0007 a0008c0012	a0001c0001t0001 a0001c0006t0001 a0001c0011t0001 others(3): Show a0001c0001t0001 a0001c0006t0001 a0001c0011t0001 a0003c0004t0001 a0004c0007t0001 a0008c0012t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(37): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0055 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0093 a0001c0001t0001g0105 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0170 a0001c0006t0001g0067 a0001c0006t0001g0068 a0001c0006t0001g0113 a0001c0011t0001g0090 a0003c0004t0001g0215 a0003c0004t0001g0216 a0003c0004t0001g0217 a0003c0004t0001g0218 a0004c0007t0001g0101 a0004c0007t0001g0140 a0008c0012t0001g0106	45	72	0.6250	-26	c.-18 others(43): Show c.-18-2101_-18-2076delTATATATATATATATATATATATATA	DUS2	ENSG00000167264.18	transcript	ENST00000565263.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
DUS2_chr16_68018284_68084320	68035905	TATATATA others(19): Show TATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	232	0.0043	-26	c.-18 others(43): Show c.-18-2099_-18-2074delTATATATATATATATATATATATACA	DUS2	ENSG00000167264.18	transcript	ENST00000565263.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
DUSP16_chr12_12468282_12567863	12486481	AGTGTGTG others(19): Show AGTGTGTGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01123.hp1 HG01517.hp1 HG00735.hp2 HG01123.hp1 HG01517.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0010 a0001c0001 a0004c0010	a0001c0001t0001 a0001c0001t0063 a0004c0010t0001 a0001c0001t0001 a0001c0001t0063 a0004c0010t0001	a0001c0001t0001g0145 a0001c0001t0063g0341 a0004c0010t0001g0200 a0001c0001t0001g0145 a0001c0001t0063g0341 a0004c0010t0001g0200	3	98	0.0306	-26	c.691 others(41): Show c.691+521_691+546delACACACACACACACACACACACACAC	DUSP16	ENSG00000111266.9	transcript	ENST00000298573.9	protein_coding	5/6			chr12	TogoVar
DUSP16_chr12_12468282_12567863	12560520	TCAGTAAA others(19): Show TCAGTAAATTCCACAATTTTAAAAAAC	T T	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0320 a0002c0002t0004g0320	1	350	0.0029	-26	c.-36 others(45): Show c.-366+1571_-366+1596delGTTTTTTAAAATTGTGGAATTTACTG	DUSP16	ENSG00000111266.9	transcript	ENST00000298573.9	protein_coding	1/6			chr12	TogoVar
DYM_chr18_49031387_49465645	49289727	GTATATAT others(19): Show GTATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0006 a0001c0003t0009g0006	1	189	0.0053	-26	c.764 others(43): Show c.764-3137_764-3112delTATATATATATATATATATATATATA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	8/17			chr18	TogoVar
DYNC1I1_chr7_95767554_96103424	95785775	GTATATAT others(19): Show GTATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01243.hp1 HG01884.hp1 others(22): Show HG00741.hp1 HG01243.hp1 HG01884.hp1 HG02055.hp2 HG02109.hp1 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02572.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02809.hp2 HG02896.hp2 HG02897.hp1 HG02976.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03516.hp1 NA18522.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0008 a0001c0009 a0002c0005 a0002c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0007t0001 a0001c0008t0001 a0001c0009t0001 a0002c0005t0001 a0002c0010t0001	a0001c0001t0001g0031 a0001c0001t0001g0040 a0001c0001t0001g0041 others(22): Show a0001c0001t0001g0031 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0051 a0001c0001t0001g0155 a0001c0001t0001g0164 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0002g0156 a0001c0001t0003g0055 a0001c0002t0001g0003 a0001c0002t0001g0005 a0001c0002t0001g0032 a0001c0003t0001g0033 a0001c0003t0001g0034 a0001c0003t0001g0037 a0001c0003t0001g0038 a0001c0004t0001g0039 a0001c0007t0001g0030 a0001c0008t0001g0029 a0001c0009t0001g0227 a0002c0005t0001g0035 a0002c0005t0001g0036 a0002c0010t0001g0042	25	41	0.6098	-26	c.-10 others(45): Show c.-10+13020_-10+13045delATATATATATATATATATATATATAT	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC1LI1_chr3_32520974_32575858	32561012	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAACAAAC	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03209.hp2 HG03471.hp2 others(2): Show HG02717.hp1 HG03209.hp2 HG03471.hp2 HG03516.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0009 a0001c0001t0008 a0001c0001t0009	a0001c0001t0008g0051 a0001c0001t0009g0047 a0001c0001t0009g0048 others(2): Show a0001c0001t0008g0051 a0001c0001t0009g0047 a0001c0001t0009g0048 a0001c0001t0009g0049 a0001c0001t0009g0050	5	334	0.0150	-26	c.220 others(43): Show c.220+9308_220+9333delGTTTGTTTTTTTTTTTTTTTTTTTTT	DYNC1LI1	ENSG00000144635.9	transcript	ENST00000273130.9	protein_coding	2/12			chr3	TogoVar
DYNC1LI2_chr16_66715893_66756609	66736354	GTGACAAA others(19): Show GTGACAAACTTCTTAGTCACATCCAAC	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	338	0.0030	-26	c.530 others(41): Show c.530-136_530-111delGTTGGATGTGACTAAGAAGTTTGTCA	DYNC1LI2	ENSG00000135720.13	transcript	ENST00000258198.7	protein_coding	4/12			chr16	TogoVar
DYNLT4_chr1_44800893_44812351	44811894	TCCCTGCC others(19): Show TCCCTGCCTCCCCTGGCCTGGGTCAGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	390	0.0026	-26	c.-46 others(37): Show c.-4662_-4637delCCTGACCCAGGCCAGGGGAGGCAGGG	DYNLT4	ENSG00000188396.4	transcript	ENST00000339355.3	protein_coding		4544		chr1	TogoVar
DYRK4_chr12_4557208_4618875	4602518	TGGGATAT others(19): Show TGGGATATAAGCCAACTTATAAGTGGA	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01515.hp1 HG02109.hp2 others(10): Show HG01192.hp1 HG01515.hp1 HG02109.hp2 HG02257.hp2 HG02572.hp1 HG02647.hp2 HG02809.hp2 HG02895.hp1 HG02897.hp1 HG02970.hp1 HG03209.hp1 HG06807.hp2 NA21309.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0009 a0001c0032 others(1): Show a0001c0001 a0001c0009 a0001c0032 a0007c0024	a0001c0001t0001 a0001c0009t0001 a0001c0032t0001 others(1): Show a0001c0001t0001 a0001c0009t0001 a0001c0032t0001 a0007c0024t0001	a0001c0001t0001g0257 a0001c0009t0001g0020 a0001c0009t0001g0021 others(10): Show a0001c0001t0001g0257 a0001c0009t0001g0020 a0001c0009t0001g0021 a0001c0009t0001g0022 a0001c0009t0001g0158 a0001c0009t0001g0245 a0001c0009t0001g0251 a0001c0009t0001g0334 a0001c0009t0001g0361 a0001c0009t0001g0362 a0001c0009t0001g0363 a0001c0032t0001g0110 a0007c0024t0001g0288	13	412	0.0316	-26	c.112 others(45): Show c.1127-2380_1127-2355delTTATAAGTGGAGGGATATAAGCCAAC	DYRK4	ENSG00000010219.14	transcript	ENST00000543431.6	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
DYSF_chr2_71448561_71691763	71617671	TGTGTGTG others(19): Show TGTGTGTGGTAGAGGTGGGGTGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG04199.hp1 HG03017.hp1 HG04199.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0002 a0001c0005t0001 a0001c0005t0002	a0001c0005t0001g0140 a0001c0005t0002g0145 a0001c0005t0001g0140 a0001c0005t0002g0145	2	190	0.0105	-26	c.441 others(45): Show c.4410+4287_4410+4312delCGTGTGTGGTAGAGGTGGGGTGTGTG	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	40/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71617671	TGTGTGTG others(19): Show TGTGTGTGGTAGAGGTGGGGTGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG04199.hp2 HG03017.hp2 HG04199.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0070 a0001c0005t0001g0143 a0001c0005t0001g0070 a0001c0005t0001g0143	2	206	0.0097	-26	c.446 others(45): Show c.4465-2850_4465-2825delCGTGTGTGGTAGAGGTGGGGTGTGTG	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	40/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
DZANK1_chr20_18378367_18472030	18463478	CAAGCCTA others(19): Show CAAGCCTAAAATAAAAGTTGTAAAAGA	C C	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0340 a0001c0001t0002g0340	1	372	0.0027	-26	c.109 others(43): Show c.109+1746_109+1771delTCTTTTACAACTTTTATTTTAGGCTT	DZANK1	ENSG00000089091.17	transcript	ENST00000699568.1	protein_coding	2/20			chr20	TogoVar
DZIP3_chr3_108584722_108699840	108588321	ATGGGCAC others(19): Show ATGGGCACTTGAAGTAGGGAAAAGAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01891.hp1 HG01891.hp2 others(4): Show HG01106.hp1 HG01891.hp1 HG01891.hp2 HG02109.hp1 HG02723.hp1 HG02809.hp2 HG03486.hp2	a0001 a0007 a0001 a0007	a0001c0004 a0007c0014 a0001c0004 a0007c0014	a0001c0004t0004 a0001c0004t0010 a0001c0004t0015 others(1): Show a0001c0004t0004 a0001c0004t0010 a0001c0004t0015 a0007c0014t0004	a0001c0004t0004g0013 a0001c0004t0004g0014 a0001c0004t0004g0015 others(4): Show a0001c0004t0004g0013 a0001c0004t0004g0014 a0001c0004t0004g0015 a0001c0004t0004g0016 a0001c0004t0010g0011 a0001c0004t0015g0017 a0007c0014t0004g0012	7	316	0.0222	-26	c.-15 others(37): Show c.-1590_-1565delTGGGCACTTGAAGTAGGGAAAAGAGG	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding		1400		chr3	TogoVar
EAF2_chr3_121830209_121891526	121841518	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp2 HG00642.hp1 others(90): Show HG00597.hp2 HG00609.hp2 HG00642.hp1 HG00673.hp1 HG01069.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02074.hp1 HG02132.hp1 HG02145.hp2 HG02165.hp2 HG02257.hp2 HG02572.hp2 HG02602.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02965.hp2 HG03139.hp2 HG03195.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG06807.hp1 NA18906.hp2 NA18941.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18963.hp2 NA18965.hp1 NA18967.hp2 NA18968.hp1 NA18973.hp1 NA18974.hp2 NA18979.hp2 NA18994.hp2 NA18997.hp1 NA18999.hp2 NA19001.hp1 NA19054.hp2 NA19062.hp2 NA19072.hp1 NA20805.hp2 NA20905.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0004 a0001c0007 others(2): Show a0001c0001 a0001c0004 a0001c0007 a0002c0003 a0004c0006	a0001c0001t0001 a0001c0004t0001 a0001c0007t0001 others(2): Show a0001c0001t0001 a0001c0004t0001 a0001c0007t0001 a0002c0003t0001 a0004c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(65): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0096 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0004t0001g0038 a0001c0007t0001g0193 a0002c0003t0001g0183 a0002c0003t0001g0190 a0002c0003t0001g0199 a0004c0006t0001g0035	93	316	0.2943	-26	c.107 others(43): Show c.107-2931_107-2906delAAAAAAAAAAAAAAAAAAAAAAGAAA	EAF2	ENSG00000145088.9	transcript	ENST00000273668.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
EARS2_chr16_23515754_23562350	23521739	ATATACCA others(19): Show ATATACCAGAATCGACTTAGTATTTTG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0027 a0002c0002t0027	a0002c0002t0027g0171 a0002c0002t0027g0171	1	284	0.0035	-26	c.26 others(37): Show c.2606_*2631delCAAAATACTAAGTCGATTCTGGTATA	EARS2	ENSG00000103356.18	transcript	ENST00000449606.7	protein_coding	9/9	2606		chr16	TogoVar
EBF1_chr5_158690920_159104916	158866833	GTATATAT others(19): Show GTATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp2 HG00738.hp1 others(16): Show HG00639.hp1 HG00735.hp2 HG00738.hp1 HG01074.hp2 HG01109.hp1 HG01257.hp2 HG01346.hp2 HG02055.hp1 HG02622.hp1 HG02965.hp1 HG02976.hp1 HG03098.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03516.hp1 NA18522.hp1 NA18906.hp1 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0077 a0001c0002t0001 a0001c0002t0002 others(11): Show a0001c0001t0077 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0007 a0001c0002t0018 a0001c0002t0026 a0001c0002t0041 a0001c0002t0059 a0001c0002t0062 a0001c0002t0076 a0001c0002t0084 a0001c0004t0004	a0001c0001t0077g0088 a0001c0002t0001g0109 a0001c0002t0001g0137 others(16): Show a0001c0001t0077g0088 a0001c0002t0001g0109 a0001c0002t0001g0137 a0001c0002t0001g0158 a0001c0002t0001g0161 a0001c0002t0002g0173 a0001c0002t0003g0090 a0001c0002t0003g0151 a0001c0002t0006g0020 a0001c0002t0007g0083 a0001c0002t0007g0084 a0001c0002t0018g0086 a0001c0002t0026g0103 a0001c0002t0041g0028 a0001c0002t0059g0052 a0001c0002t0062g0054 a0001c0002t0076g0087 a0001c0002t0084g0111 a0001c0004t0004g0171	19	31	0.6129	-26	c.555 others(45): Show c.555-26749_555-26724delTATATATATATATATATATATATATA	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15			chr5	TogoVar
ECE1_chr1_21212250_21295463	21273338	CGTGTGTG others(19): Show CGTGTGTGCGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	263	0.0038	-26	c.281 others(41): Show c.281-453_281-428delACACACACACACACACACGCACACAC	ECE1	ENSG00000117298.16	transcript	ENST00000374893.11	protein_coding	3/18			chr1	TogoVar
ECHDC1_chr6_127283712_127348609	127309480	AACACACA others(19): Show AACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG01358.hp2 others(9): Show HG00099.hp1 HG00140.hp1 HG01358.hp2 HG01975.hp2 HG02074.hp2 HG02818.hp2 HG02976.hp2 HG03239.hp1 HG03540.hp1 HG03654.hp1 NA18960.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0246 a0001c0001t0002g0258 a0001c0001t0002g0259 others(9): Show a0001c0001t0002g0246 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0003g0010 a0001c0001t0003g0104 a0001c0001t0003g0106 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0112 a0001c0001t0003g0119	12	15	0.8000	-26	c.497 others(43): Show c.497+5310_497+5335delGTGTGTGTGTGTGTGTGTGTGTGTGT	ECHDC1	ENSG00000093144.19	transcript	ENST00000454859.8	protein_coding	5/5			chr6	TogoVar
ECRG4_chr2_106060688_106083155	106064641	CACTCCAG others(19): Show CACTCCAGCCTGGGCAACAAGAGTGAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	432	0.0023	-26	c.-11 others(37): Show c.-1123_-1098delACTCCAGCCTGGGCAACAAGAGTGAA	ECRG4	ENSG00000119147.10	transcript	ENST00000238044.8	protein_coding		1046		chr2	TogoVar
EDARADD_chr1_236389286_236489930	236480096	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02886.hp2 HG03139.hp1 HG02818.hp1 HG02886.hp2 HG03139.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0115 a0002c0002t0001g0237 a0002c0002t0001g0275 a0001c0001t0001g0115 a0002c0002t0001g0237 a0002c0002t0001g0275	3	33	0.0909	-26	c.266 others(43): Show c.266-2156_266-2131delATATATATATATATATATATATATAT	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDA_chrX_69611113_70044472	69849082	TACACACA others(19): Show TACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00733.hp1 HG00735.hp2 others(11): Show HG00099.hp1 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01192.hp1 HG01358.hp1 HG02055.hp1 HG02257.hp2 HG02486.hp1 HG02683.hp2 HG03927.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0018 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0018 a0001c0002t0001	a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 others(11): Show a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0003g0039 a0001c0001t0018g0040 a0001c0002t0001g0030 a0001c0002t0001g0031	14	114	0.1228	-26	c.397 others(47): Show c.397-107919_397-107894delCACACACACACACACACACACACA CA	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDIL3_chr5_83935554_84389880	84160804	CCTTTCCT others(19): Show CCTTTCCTTTCCTTTCCCTTTCCTTTT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0119 a0001c0001t0003g0119	1	156	0.0064	-26	c.355 others(45): Show c.355+19563_355+19588delAAAAGGAAAGGGAAAGGAAAGGAAAG	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	4/10			chr5	TogoVar
EEA1_chr12_92765637_92934295	92834558	AAAAAAAA others(19): Show AAAAAAAAAAAAGAGTACTTATAAGAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0174 a0002c0003t0002g0174	1	242	0.0041	-26	c.916 others(43): Show c.916-1734_916-1709delCTCTTATAAGTACTCTTTTTTTTTTT	EEA1	ENSG00000102189.17	transcript	ENST00000322349.13	protein_coding	10/28			chr12	TogoVar
EEF1E1_chr6_8074395_8107548	8101239	AAAAAATA others(19): Show AAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	440	0.0023	-26	c.87+ others(41): Show c.87+1170_87+1195delATATATATATATATATATATATTTTT	EEF1E1	ENSG00000124802.12	transcript	ENST00000379715.10	protein_coding	1/3			chr6	TogoVar
EEF1G_chr11_62554596_62578891	62561660	CAAAAAAA others(19): Show CAAAAAAAAAACAAAAAAAAAACAAAA	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	258	0.0039	-26	c.858 others(43): Show c.858-1232_858-1207delTTTTGTTTTTTTTTTGTTTTTTTTTT	EEF1G	ENSG00000254772.10	transcript	ENST00000329251.5	protein_coding	7/9			chr11	TogoVar
EEF2K_chr16_22201278_22293738	22241684	AATTAGTC others(19): Show AATTAGTCTACGGCATTGCTCCAGTGG	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0191 a0001c0001t0027g0191	1	288	0.0035	-26	c.247 others(43): Show c.247-2943_247-2918delTAGTCTACGGCATTGCTCCAGTGGAT	EEF2K	ENSG00000103319.12	transcript	ENST00000263026.10	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
EFCAB7_chr1_63518525_63577693	63562445	TTATTTAT others(19): Show TTATTTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00733.hp1 HG00741.hp2 others(62): Show HG00558.hp1 HG00733.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01256.hp1 HG01358.hp1 HG01884.hp1 HG01978.hp1 HG01981.hp2 HG02015.hp1 HG02071.hp2 HG02145.hp1 HG02257.hp1 HG02293.hp1 HG02300.hp1 HG02523.hp1 HG02738.hp1 HG02809.hp2 HG03098.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03669.hp1 HG03704.hp1 HG03834.hp2 HG04199.hp1 HG06807.hp2 NA18747.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp1 NA18951.hp2 NA18952.hp2 NA18957.hp1 NA18959.hp1 NA18963.hp1 NA18964.hp1 NA18966.hp2 NA18969.hp1 NA18973.hp1 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18990.hp2 NA18991.hp1 NA18995.hp2 NA19002.hp2 NA19007.hp2 NA19057.hp1 NA19063.hp1 NA19065.hp2 NA19076.hp1 NA19077.hp1 NA19080.hp1 NA19086.hp2 NA19090.hp2 NA19091.hp1 NA20805.hp1	a0002 a0013 a0014 a0002 a0013 a0014	a0002c0003 a0013c0013 a0014c0019 a0002c0003 a0013c0013 a0014c0019	a0002c0003t0001 a0013c0013t0001 a0014c0019t0001 a0002c0003t0001 a0013c0013t0001 a0014c0019t0001	a0002c0003t0001g0002 a0002c0003t0001g0018 a0002c0003t0001g0035 others(44): Show a0002c0003t0001g0002 a0002c0003t0001g0018 a0002c0003t0001g0035 a0002c0003t0001g0036 a0002c0003t0001g0037 a0002c0003t0001g0038 a0002c0003t0001g0039 a0002c0003t0001g0040 a0002c0003t0001g0234 a0002c0003t0001g0235 a0002c0003t0001g0236 a0002c0003t0001g0237 a0002c0003t0001g0240 a0002c0003t0001g0241 a0002c0003t0001g0242 a0002c0003t0001g0243 a0002c0003t0001g0244 a0002c0003t0001g0245 a0002c0003t0001g0246 a0002c0003t0001g0247 a0002c0003t0001g0248 a0002c0003t0001g0250 a0002c0003t0001g0251 a0002c0003t0001g0252 a0002c0003t0001g0253 a0002c0003t0001g0254 a0002c0003t0001g0255 a0002c0003t0001g0257 a0002c0003t0001g0258 a0002c0003t0001g0259 a0002c0003t0001g0260 a0002c0003t0001g0261 a0002c0003t0001g0262 a0002c0003t0001g0263 a0002c0003t0001g0264 a0002c0003t0001g0265 a0002c0003t0001g0266 a0002c0003t0001g0267 a0002c0003t0001g0268 a0002c0003t0001g0269 a0002c0003t0001g0270 a0002c0003t0001g0271 a0002c0003t0001g0272 a0002c0003t0001g0276 a0002c0003t0001g0277 a0013c0013t0001g0256 a0014c0019t0001g0066	65	176	0.3693	-26	c.149 others(43): Show c.1497+592_1497+617delTTATATATATATATATATATATATAT	EFCAB7	ENSG00000203965.13	transcript	ENST00000371088.5	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
EFCAB8_chr20_32853923_32966845	32939115	CTCTTTCT others(19): Show CTCTTTCTTTCTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01257.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	282	0.0071	-26	c.279 others(45): Show c.2791-4509_2791-4484delCTTTCTTTCTTTCTTTCTTTCTTTCT	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	22/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
EFHC2_chrX_44142872_44348672	44209019	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp2 HG02523.hp2 others(14): Show HG02258.hp1 HG02451.hp2 HG02523.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02723.hp1 HG02818.hp1 HG02886.hp1 HG02970.hp1 HG02976.hp2 HG03195.hp1 HG03195.hp2 HG03471.hp1 HG03486.hp1 NA18522.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0006t0001 a0001c0006t0006	a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(14): Show a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0082 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0200 a0001c0001t0002g0078 a0001c0001t0003g0175 a0001c0001t0004g0102 a0001c0001t0005g0080 a0001c0001t0008g0034 a0001c0006t0001g0016 a0001c0006t0001g0022 a0001c0006t0006g0103	17	23	0.7391	-26	c.175 others(47): Show c.1751+20604_1751+20629delCACACACACACACACACACACACA CA	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	11/14			chrX	TogoVar
EFHC2_chrX_44142872_44348672	44251597	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	15	0.0667	-26	c.607 others(43): Show c.607-1178_607-1153delTTTTTTTTTTTTTTTTTTTTTTTTTT	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	4/14			chrX	TogoVar
EFNA1_chr1_155122876_155139899	155130484	GGGGGAGA others(19): Show GGGGGAGAGGAGGAGAGAGGGGAGAGA	G G	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	346	0.0029	-26	c.93- others(39): Show c.93-845_93-820delAGGAGAGAGGGGAGAGAGGGGAGAGG	EFNA1	ENSG00000169242.12	transcript	ENST00000368407.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
EFNA5_chr5_107371894_107675937	107463802	ATCAAATG others(19): Show ATCAAATGCAGTATGCACTTTGGTTCC	A A	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0118 a0001c0001t0009g0118	1	190	0.0053	-26	c.126 others(45): Show c.126-36319_126-36294delGGAACCAAAGTGCATACTGCATTTGA	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar

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