Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Sampleids

Snpeff haplotype class

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
DPP8_chr15_65437467_65522689	65502162	TACAGGTG others(6): Show TACAGGTGTGAGCC	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0040 a0001c0009t0040	a0001c0009t0040g0034 a0001c0009t0040g0034	1	336	0.0030	-13	c.373 others(30): Show c.373-1396_373-1384delGGCTCACACCTGT	DPP8	ENSG00000074603.19	transcript	ENST00000300141.11	protein_coding	3/19			chr15	TogoVar
DPPA2_chr3_109288788_109321517	109320526	AGACAATA others(6): Show AGACAATAGTCCTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	422	0.0024	-13	c.-42 others(24): Show c.-4269_-4257delCAGGACTATTGTC	DPPA2	ENSG00000163530.4	transcript	ENST00000478945.1	protein_coding		4010		chr3	TogoVar
DPPA3_chr12_7706433_7722559	7708081	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG02040.hp1 HG02083.hp2 others(7): Show HG00408.hp1 HG02040.hp1 HG02083.hp2 NA18941.hp1 NA18949.hp1 NA18951.hp2 NA18975.hp2 NA18980.hp2 NA19010.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0030 others(1): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0030 a0001c0001t0001g0108	10	466	0.0215	-13	c.-34 others(24): Show c.-3489_-3477delTTTTTTTTTTTTT	DPPA3	ENSG00000187569.3	transcript	ENST00000345088.3	protein_coding		3351		chr12	TogoVar
DPPA4_chr3_109321144_109342546	109330300	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0116 a0002c0002t0008g0116	1	416	0.0024	-13	c.679 others(28): Show c.679+211_679+223delTTTTTTTTTTTTT	DPPA4	ENSG00000121570.13	transcript	ENST00000335658.7	protein_coding	5/6			chr3	TogoVar
DPY19L3_chr19_32400770_32490890	32447803	ATAGATAG others(6): Show ATAGATAGATAGAT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02572.hp2 HG02818.hp1 others(6): Show HG02451.hp2 HG02572.hp2 HG02818.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03453.hp2 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0017 a0001c0002t0003 a0001c0002t0009 others(1): Show a0001c0001t0017 a0001c0002t0003 a0001c0002t0009 a0001c0002t0022	a0001c0001t0017g0282 a0001c0002t0003g0262 a0001c0002t0009g0004 others(5): Show a0001c0001t0017g0282 a0001c0002t0003g0262 a0001c0002t0009g0004 a0001c0002t0009g0189 a0001c0002t0009g0190 a0001c0002t0009g0233 a0001c0002t0009g0235 a0001c0002t0022g0259	9	384	0.0234	-13	c.856 others(30): Show c.856-5328_856-5316delTAGATAGATAGAT	DPY19L3	ENSG00000178904.19	transcript	ENST00000392250.7	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
DPY19L4_chr8_94714900_94798836	94715718	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02280.hp2 HG02647.hp2 others(2): Show HG02257.hp1 HG02280.hp2 HG02647.hp2 HG02717.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 a0001c0001t0001 a0001c0001t0003 a0001c0001t0013	a0001c0001t0001g0181 a0001c0001t0003g0179 a0001c0001t0003g0180 others(2): Show a0001c0001t0001g0181 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0013g0178 a0001c0001t0013g0182	5	290	0.0172	-13	c.-42 others(24): Show c.-4280_-4268delTTTTTTTTTTTTT	DPY19L4	ENSG00000156162.16	transcript	ENST00000414645.6	protein_coding		4181		chr8	TogoVar
DPY19L4_chr8_94714900_94798836	94764713	ATATATTT others(6): Show ATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0175 a0001c0001t0019g0175	1	290	0.0035	-13	c.871 others(28): Show c.871-468_871-456delATATTTTTTTTTT	DPY19L4	ENSG00000156162.16	transcript	ENST00000414645.6	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPYD_chr1_97072743_97926034	97229207	AAAAAAAA others(6): Show AAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp2 HG03471.hp1 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0031 a0002c0002t0001g0019 a0001c0001t0001g0031 a0002c0002t0001g0019	2	52	0.0385	-13	c.244 others(32): Show c.2442+5632_2442+5644delCTTTTTTTTTTTT	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	19/22			chr1	TogoVar
DPYD_chr1_97072743_97926034	97264162	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02572.hp1 HG02886.hp1 others(5): Show HG01257.hp1 HG02572.hp1 HG02886.hp1 HG03195.hp2 HG03491.hp1 NA18522.hp1 NA18906.hp2 NA19030.hp2	a0002 a0003 a0004 others(4): Show a0002 a0003 a0004 a0005 a0006 a0007 a0010	a0002c0002 a0003c0003 a0004c0004 others(4): Show a0002c0002 a0003c0003 a0004c0004 a0005c0006 a0006c0005 a0007c0008 a0010c0011	a0002c0002t0003 a0003c0003t0004 a0004c0004t0002 others(5): Show a0002c0002t0003 a0003c0003t0004 a0004c0004t0002 a0005c0006t0002 a0006c0005t0002 a0007c0008t0001 a0007c0008t0002 a0010c0011t0004	a0002c0002t0003g0048 a0003c0003t0004g0015 a0004c0004t0002g0027 others(5): Show a0002c0002t0003g0048 a0003c0003t0004g0015 a0004c0004t0002g0027 a0005c0006t0002g0032 a0006c0005t0002g0022 a0007c0008t0001g0040 a0007c0008t0002g0038 a0010c0011t0004g0049	8	52	0.1539	-13	c.230 others(34): Show c.2300-29181_2300-29169delAAAAAAAAAAAAA	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	18/22			chr1	TogoVar
DPYD_chr1_97072743_97926034	97323491	ATACATAT others(6): Show ATACATATCATATG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	52	0.0192	-13	c.205 others(34): Show c.2059-17207_2059-17195delCATATGATATGTA	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	16/22			chr1	TogoVar
DPYD_chr1_97072743_97926034	97385280	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0002 a0008c0007t0002	a0008c0007t0002g0050 a0008c0007t0002g0050	1	52	0.0192	-13	c.190 others(32): Show c.1906-2832_1906-2820delTTTTTTTTTTTTT	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	14/22			chr1	TogoVar
DPYD_chr1_97072743_97926034	97469397	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03471.hp2 HG02976.hp1 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0031 a0002c0002t0001g0008 a0001c0001t0001g0031 a0002c0002t0001g0008	2	52	0.0385	-13	c.174 others(34): Show c.1741-19187_1741-19175delTTTTTTTTTTTTT	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	13/22			chr1	TogoVar
DPYD_chr1_97072743_97926034	97693306	AAAAAAAA others(6): Show AAAAAAAAAAAACC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01257.hp1 HG02132.hp2 others(4): Show HG00099.hp2 HG01257.hp1 HG02132.hp2 HG02165.hp2 HG03239.hp1 HG03491.hp2 HG03710.hp1	a0003 a0003	a0003c0003 a0003c0012 a0003c0003 a0003c0012	a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 others(2): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 a0003c0003t0005 a0003c0012t0002	a0003c0003t0001g0052 a0003c0003t0002g0007 a0003c0003t0002g0017 others(4): Show a0003c0003t0001g0052 a0003c0003t0002g0007 a0003c0003t0002g0017 a0003c0003t0004g0015 a0003c0003t0004g0016 a0003c0003t0005g0013 a0003c0012t0002g0014	7	52	0.1346	-13	c.681 others(30): Show c.681-1521_681-1509delGGTTTTTTTTTTT	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	6/22			chr1	TogoVar
DPYSL2_chr8_26509031_26663175	26524801	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0071 a0001c0001t0010g0071	1	316	0.0032	-13	c.354 others(32): Show c.354+10145_354+10157delAAAAAAAAAAAAA	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPYSL3_chr5_147385808_147515068	147477561	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	2	298	0.0067	-13	c.381 others(32): Show c.381+31904_381+31916delAAAAAAAAAAAAA	DPYSL3	ENSG00000113657.13	transcript	ENST00000343218.10	protein_coding	1/13			chr5	TogoVar
DPYSL5_chr2_26843132_26955351	26952929	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0081 a0001c0001t0005g0081	1	232	0.0043	-13	c.59 others(24): Show c.5935_*5947delTTTTTTTTTTTTT	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding		2579		chr2	TogoVar
DRAM1_chr12_101872580_101928612	101874015	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00423.hp1 others(128): Show HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00741.hp1 HG01099.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01257.hp2 HG01258.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01943.hp1 HG01975.hp1 HG01993.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02165.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02622.hp2 HG02683.hp1 HG02698.hp2 HG02723.hp1 HG02922.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03130.hp1 HG03239.hp1 HG03239.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03669.hp1 HG03704.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp2 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp2 NA18966.hp1 NA18968.hp1 NA18969.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18980.hp1 NA18980.hp2 NA18987.hp1 NA18990.hp1 NA18990.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19009.hp2 NA19030.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19078.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19085.hp2 NA19086.hp1 NA19088.hp1 NA19240.hp2 NA20129.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0029 a0001c0001t0035 a0001c0001t0037 a0001c0001t0038 a0001c0001t0045 a0001c0001t0046 a0001c0003t0002	a0001c0001t0001g0161 a0001c0001t0001g0173 a0001c0001t0001g0174 others(127): Show a0001c0001t0001g0161 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0186 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0212 a0001c0001t0001g0216 a0001c0001t0002g0001 a0001c0001t0002g0083 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0118 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0132 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0149 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0175 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0192 a0001c0001t0002g0198 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0001t0002g0224 a0001c0001t0003g0091 a0001c0001t0003g0168 a0001c0001t0003g0191 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0223 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0004g0319 a0001c0001t0004g0320 a0001c0001t0004g0327 a0001c0001t0004g0329 a0001c0001t0004g0330 a0001c0001t0004g0332 a0001c0001t0004g0334 a0001c0001t0004g0335 a0001c0001t0004g0336 a0001c0001t0004g0337 a0001c0001t0004g0338 a0001c0001t0004g0339 a0001c0001t0004g0340 a0001c0001t0004g0342 a0001c0001t0004g0344 a0001c0001t0004g0345 a0001c0001t0004g0348 a0001c0001t0004g0349 a0001c0001t0004g0350 a0001c0001t0004g0352 a0001c0001t0004g0354 a0001c0001t0004g0355 a0001c0001t0004g0356 a0001c0001t0004g0357 a0001c0001t0006g0185 a0001c0001t0006g0225 a0001c0001t0006g0226 a0001c0001t0007g0080 a0001c0001t0007g0197 a0001c0001t0010g0117 a0001c0001t0010g0133 a0001c0001t0010g0134 a0001c0001t0016g0347 a0001c0001t0019g0013 a0001c0001t0020g0009 a0001c0001t0020g0019 a0001c0001t0021g0243 a0001c0001t0021g0328 a0001c0001t0022g0116 a0001c0001t0029g0222 a0001c0001t0035g0171 a0001c0001t0037g0012 a0001c0001t0038g0014 a0001c0001t0045g0331 a0001c0001t0046g0323 a0001c0003t0002g0208	131	396	0.3308	-13	c.-37 others(24): Show c.-3774_-3762delTTTTTTTTTTTTT	DRAM1	ENSG00000136048.14	transcript	ENST00000258534.13	protein_coding		3564		chr12	TogoVar
DRAM1_chr12_101872580_101928612	101888786	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG00597.hp1 others(38): Show HG00423.hp2 HG00544.hp2 HG00597.hp1 HG00609.hp2 HG02056.hp1 HG02071.hp1 HG02129.hp1 HG02132.hp2 HG02165.hp1 HG02698.hp2 HG02738.hp2 HG03017.hp1 HG03239.hp2 HG04184.hp2 NA18747.hp2 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18951.hp1 NA18959.hp1 NA18961.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp1 NA18983.hp2 NA18984.hp2 NA18994.hp1 NA19001.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp2 NA19064.hp2 NA19065.hp1 NA19072.hp1 NA19080.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0016 a0001c0001t0021 others(2): Show a0001c0001t0004 a0001c0001t0016 a0001c0001t0021 a0001c0001t0045 a0001c0001t0046	a0001c0001t0004g0320 a0001c0001t0004g0322 a0001c0001t0004g0324 others(38): Show a0001c0001t0004g0320 a0001c0001t0004g0322 a0001c0001t0004g0324 a0001c0001t0004g0325 a0001c0001t0004g0327 a0001c0001t0004g0329 a0001c0001t0004g0330 a0001c0001t0004g0332 a0001c0001t0004g0333 a0001c0001t0004g0334 a0001c0001t0004g0335 a0001c0001t0004g0336 a0001c0001t0004g0337 a0001c0001t0004g0338 a0001c0001t0004g0339 a0001c0001t0004g0340 a0001c0001t0004g0341 a0001c0001t0004g0342 a0001c0001t0004g0343 a0001c0001t0004g0344 a0001c0001t0004g0345 a0001c0001t0004g0346 a0001c0001t0004g0348 a0001c0001t0004g0349 a0001c0001t0004g0350 a0001c0001t0004g0351 a0001c0001t0004g0352 a0001c0001t0004g0353 a0001c0001t0004g0354 a0001c0001t0004g0355 a0001c0001t0004g0356 a0001c0001t0004g0357 a0001c0001t0004g0358 a0001c0001t0004g0359 a0001c0001t0016g0321 a0001c0001t0016g0326 a0001c0001t0016g0347 a0001c0001t0021g0243 a0001c0001t0021g0328 a0001c0001t0045g0331 a0001c0001t0046g0323	41	396	0.1035	-13	c.132 others(30): Show c.132-9059_132-9047delTTTTTTTTTTTTT	DRAM1	ENSG00000136048.14	transcript	ENST00000258534.13	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
DRAM1_chr12_101872580_101928612	101889490	GAAGTAAG others(6): Show GAAGTAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03471.hp2 HG03579.hp1 others(1): Show HG03209.hp2 HG03471.hp2 HG03579.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0017 a0001c0001t0031 a0001c0001t0003 a0001c0001t0017 a0001c0001t0031	a0001c0001t0003g0004 a0001c0001t0017g0005 a0001c0001t0017g0006 others(1): Show a0001c0001t0003g0004 a0001c0001t0017g0005 a0001c0001t0017g0006 a0001c0001t0031g0007	4	396	0.0101	-13	c.132 others(30): Show c.132-8369_132-8357delTAAGGAAGGAAAG	DRAM1	ENSG00000136048.14	transcript	ENST00000258534.13	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
DRC1_chr2_26396920_26461711	26398037	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0074 a0001c0001t0003g0074	1	384	0.0026	-13	c.-39 others(24): Show c.-3952_-3940delTTTTTTTTTTTTT	DRC1	ENSG00000157856.12	transcript	ENST00000288710.7	protein_coding		3882		chr2	TogoVar
DRG2_chr17_18082948_18112969	18090389	TATATATA others(6): Show TATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0004 a0001c0011t0004	a0001c0011t0004g0330 a0001c0011t0004g0330	1	418	0.0024	-13	c.64+ others(28): Show c.64+2303_64+2315delATATATATATATA	DRG2	ENSG00000108591.10	transcript	ENST00000225729.8	protein_coding	1/12			chr17	TogoVar
DRG2_chr17_18082948_18112969	18090393	TATATATA others(6): Show TATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0238 a0001c0001t0002g0238	1	418	0.0024	-13	c.64+ others(28): Show c.64+2307_64+2319delATATATATATATA	DRG2	ENSG00000108591.10	transcript	ENST00000225729.8	protein_coding	1/12			chr17	TogoVar
DRGX_chr10_49359066_49401089	49387673	AAAAAGAC others(6): Show AAAAAGACAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	368	0.0027	-13	c.235 others(28): Show c.235-828_235-816delCTTTCTGTCTTTT	DRGX	ENSG00000165606.10	transcript	ENST00000374139.8	protein_coding	4/6			chr10	TogoVar
DRICH1_chr22_23603452_23637321	23622888	CACCAGTG others(6): Show CACCAGTGAATCTG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG02735.hp2 others(28): Show HG00280.hp2 HG00438.hp1 HG02735.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 NA18940.hp2 NA18945.hp2 NA18947.hp1 NA18961.hp2 NA18965.hp1 NA18969.hp1 NA18974.hp1 NA18978.hp2 NA18981.hp1 NA18990.hp1 NA18991.hp1 NA18992.hp2 NA19003.hp1 NA19007.hp1 NA19010.hp1 NA19056.hp2 NA19059.hp1 NA19060.hp2 NA19068.hp2 NA19080.hp2 NA19081.hp2 NA19083.hp1 NA19088.hp1 NA19089.hp1 NA19091.hp1	a0002 a0003 a0008 a0002 a0003 a0008	a0002c0002 a0003c0003 a0008c0012 a0002c0002 a0003c0003 a0008c0012	a0002c0002t0004 a0003c0003t0002 a0003c0003t0004 others(3): Show a0002c0002t0004 a0003c0003t0002 a0003c0003t0004 a0003c0003t0009 a0008c0012t0002 a0008c0012t0004	a0002c0002t0004g0098 a0002c0002t0004g0099 a0003c0003t0002g0005 others(21): Show a0002c0002t0004g0098 a0002c0002t0004g0099 a0003c0003t0002g0005 a0003c0003t0002g0109 a0003c0003t0002g0110 a0003c0003t0002g0113 a0003c0003t0002g0114 a0003c0003t0002g0115 a0003c0003t0002g0117 a0003c0003t0002g0118 a0003c0003t0002g0119 a0003c0003t0002g0120 a0003c0003t0002g0121 a0003c0003t0002g0124 a0003c0003t0002g0125 a0003c0003t0002g0128 a0003c0003t0004g0015 a0003c0003t0004g0112 a0003c0003t0004g0116 a0003c0003t0004g0126 a0003c0003t0004g0127 a0003c0003t0009g0111 a0008c0012t0002g0122 a0008c0012t0004g0123	31	446	0.0695	-13	c.299 others(28): Show c.299-725_299-713delCAGATTCACTGGT	DRICH1	ENSG00000189269.13	transcript	ENST00000317749.9	protein_coding	3/11			chr22	TogoVar
DROSHA_chr5_31395494_31537093	31436740	AAACACAC others(6): Show AAACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0170 a0001c0003t0003g0170	1	322	0.0031	-13	c.294 others(30): Show c.2942+486_2942+498delGTGTGTGTGTGTT	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	24/35			chr5	TogoVar
DROSHA_chr5_31395494_31537093	31484380	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00558.hp1 others(68): Show HG00099.hp2 HG00280.hp1 HG00558.hp1 HG00609.hp2 HG00621.hp1 HG00673.hp1 HG01070.hp1 HG01109.hp1 HG01168.hp2 HG01261.hp2 HG01358.hp2 HG01515.hp2 HG01928.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG02015.hp2 HG02074.hp2 HG02129.hp2 HG02132.hp1 HG02148.hp2 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG02818.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03139.hp2 HG03453.hp1 HG03486.hp2 HG03704.hp1 HG03710.hp1 HG03927.hp1 HG04199.hp1 NA18612.hp2 NA18939.hp1 NA18948.hp1 NA18951.hp2 NA18957.hp1 NA18960.hp2 NA18964.hp1 NA18967.hp2 NA18978.hp2 NA18981.hp1 NA18992.hp1 NA18995.hp2 NA18998.hp1 NA19001.hp2 NA19005.hp1 NA19009.hp2 NA19011.hp1 NA19043.hp1 NA19064.hp1 NA19078.hp2 NA19081.hp2 NA19085.hp1 NA19091.hp1 NA19240.hp2 NA20752.hp1 NA20805.hp2	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0014 a0001c0018 a0001c0023 a0001c0033 a0004c0009 a0007c0035	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 others(12): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0017 a0001c0002t0019 a0001c0003t0003 a0001c0014t0002 a0001c0018t0001 a0001c0023t0001 a0001c0033t0001 a0004c0009t0002 a0007c0035t0003	a0001c0001t0002g0122 a0001c0001t0002g0156 a0001c0001t0002g0187 others(68): Show a0001c0001t0002g0122 a0001c0001t0002g0156 a0001c0001t0002g0187 a0001c0001t0002g0200 a0001c0001t0002g0208 a0001c0001t0002g0216 a0001c0001t0003g0185 a0001c0002t0001g0084 a0001c0002t0001g0114 a0001c0002t0001g0140 a0001c0002t0001g0154 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0167 a0001c0002t0001g0169 a0001c0002t0001g0174 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0184 a0001c0002t0001g0186 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0209 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0215 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0300 a0001c0002t0002g0195 a0001c0002t0003g0123 a0001c0002t0006g0314 a0001c0002t0017g0085 a0001c0002t0019g0168 a0001c0003t0003g0088 a0001c0003t0003g0166 a0001c0003t0003g0171 a0001c0003t0003g0172 a0001c0003t0003g0173 a0001c0003t0003g0183 a0001c0003t0003g0191 a0001c0003t0003g0196 a0001c0003t0003g0214 a0001c0003t0003g0221 a0001c0003t0003g0239 a0001c0014t0002g0227 a0001c0018t0001g0097 a0001c0023t0001g0197 a0001c0033t0001g0226 a0004c0009t0002g0254 a0004c0009t0002g0255 a0004c0009t0002g0262 a0007c0035t0003g0126	71	322	0.2205	-13	c.199 others(30): Show c.1996+488_1996+500delTTTTTTTTTTTTT	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	15/35			chr5	TogoVar
DSCAML1_chr11_117422772_117802216	117484023	CGCCCCCC others(6): Show CGCCCCCCGCCCCT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG04184.hp2 HG01099.hp1 HG04184.hp2	a0001 a0002 a0001 a0002	a0001c0016 a0002c0032 a0001c0016 a0002c0032	a0001c0016t0001 a0002c0032t0001 a0001c0016t0001 a0002c0032t0001	a0001c0016t0001g0044 a0002c0032t0001g0033 a0001c0016t0001g0044 a0002c0032t0001g0033	2	194	0.0103	-13	c.236 others(32): Show c.2360-1874_2360-1862delAGGGGCGGGGGGC	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	11/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117514572	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02976.hp2 HG03130.hp2 others(2): Show HG02280.hp2 HG02976.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2	a0002 a0002	a0002c0001 a0002c0002 a0002c0006 others(1): Show a0002c0001 a0002c0002 a0002c0006 a0002c0066	a0002c0001t0001 a0002c0001t0002 a0002c0002t0003 others(2): Show a0002c0001t0001 a0002c0001t0002 a0002c0002t0003 a0002c0006t0002 a0002c0066t0002	a0002c0001t0001g0126 a0002c0001t0002g0175 a0002c0002t0003g0194 others(2): Show a0002c0001t0001g0126 a0002c0001t0002g0175 a0002c0002t0003g0194 a0002c0006t0002g0093 a0002c0066t0002g0070	5	194	0.0258	-13	c.178 others(32): Show c.1783+1882_1783+1894delAAAAAAAAAAAAA	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	8/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117577445	CTTCCTTC others(6): Show CTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01074.hp2 HG01175.hp1 others(1): Show HG00280.hp2 HG01074.hp2 HG01175.hp1 HG01243.hp2	a0002 a0002	a0002c0001 a0002c0006 a0002c0001 a0002c0006	a0002c0001t0002 a0002c0006t0001 a0002c0006t0004 a0002c0001t0002 a0002c0006t0001 a0002c0006t0004	a0002c0001t0002g0083 a0002c0006t0001g0187 a0002c0006t0004g0149 others(1): Show a0002c0001t0002g0083 a0002c0006t0001g0187 a0002c0006t0004g0149 a0002c0006t0004g0150	4	194	0.0206	-13	c.512 others(32): Show c.512-44936_512-44924delAGGAAGGAAGGAA	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117769539	TTATATAT others(6): Show TTATATATTTTATA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01109.hp1 HG01192.hp2 others(14): Show HG00280.hp2 HG01109.hp1 HG01192.hp2 HG01361.hp2 HG01433.hp2 HG02055.hp1 HG02056.hp2 HG02451.hp1 HG02559.hp2 HG03098.hp2 HG03225.hp2 HG03453.hp1 HG04184.hp2 NA18960.hp1 NA18960.hp2 NA18980.hp2 NA18994.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0001c0008 a0001c0011 others(11): Show a0001c0005 a0001c0008 a0001c0011 a0001c0013 a0001c0015 a0001c0016 a0001c0021 a0001c0028 a0001c0036 a0002c0001 a0002c0002 a0002c0003 a0002c0004 a0002c0019	a0001c0005t0001 a0001c0008t0001 a0001c0011t0004 others(12): Show a0001c0005t0001 a0001c0008t0001 a0001c0011t0004 a0001c0013t0001 a0001c0015t0001 a0001c0016t0001 a0001c0021t0003 a0001c0028t0001 a0001c0036t0003 a0002c0001t0002 a0002c0002t0001 a0002c0003t0004 a0002c0004t0001 a0002c0004t0004 a0002c0019t0001	a0001c0005t0001g0099 a0001c0008t0001g0118 a0001c0011t0004g0064 others(14): Show a0001c0005t0001g0099 a0001c0008t0001g0118 a0001c0011t0004g0064 a0001c0013t0001g0065 a0001c0015t0001g0031 a0001c0016t0001g0044 a0001c0021t0003g0141 a0001c0021t0003g0145 a0001c0028t0001g0067 a0001c0036t0003g0063 a0002c0001t0002g0083 a0002c0001t0002g0115 a0002c0002t0001g0162 a0002c0003t0004g0161 a0002c0004t0001g0113 a0002c0004t0004g0066 a0002c0019t0001g0120	17	194	0.0876	-13	c.511 others(30): Show c.511+7239_511+7251delTATAAAATATATA	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
DSEL_chr18_67501587_67521720	67506148	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01261.hp2 HG02886.hp2 others(5): Show HG01255.hp2 HG01261.hp2 HG02886.hp2 HG02965.hp1 HG03041.hp1 HG03225.hp2 HG03516.hp1 NA18522.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0006 a0001c0001 a0002c0002 a0004c0006	a0001c0001t0002 a0002c0002t0016 a0002c0002t0017 others(1): Show a0001c0001t0002 a0002c0002t0016 a0002c0002t0017 a0004c0006t0026	a0001c0001t0002g0002 a0002c0002t0016g0022 a0002c0002t0017g0023 others(1): Show a0001c0001t0002g0002 a0002c0002t0016g0022 a0002c0002t0017g0023 a0004c0006t0026g0031	8	421	0.0190	-13	c.48 others(24): Show c.4809_*4821delTTTTTTTTTTTTT	DSEL	ENSG00000171451.15	transcript	ENST00000310045.9	protein_coding		438		chr18	TogoVar
DSE_chr6_116365947_116449861	116410733	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp2 HG00735.hp1 others(30): Show HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01261.hp1 HG01361.hp1 HG01516.hp2 HG01517.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02698.hp1 HG02809.hp2 HG02896.hp1 HG02965.hp2 HG03098.hp1 HG03540.hp1 HG03579.hp1 HG03942.hp1 NA18522.hp1 NA18906.hp1 NA19006.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0011	a0001c0001 a0002c0002 a0006c0007 others(1): Show a0001c0001 a0002c0002 a0006c0007 a0011c0010	a0001c0001t0001 a0001c0001t0023 a0002c0002t0001 others(8): Show a0001c0001t0001 a0001c0001t0023 a0002c0002t0001 a0002c0002t0009 a0002c0002t0020 a0002c0002t0022 a0002c0002t0040 a0006c0007t0001 a0006c0007t0020 a0006c0007t0046 a0011c0010t0001	a0001c0001t0001g0129 a0001c0001t0023g0281 a0001c0001t0023g0282 others(28): Show a0001c0001t0001g0129 a0001c0001t0023g0281 a0001c0001t0023g0282 a0002c0002t0001g0005 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0078 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0261 a0002c0002t0001g0330 a0002c0002t0009g0020 a0002c0002t0009g0054 a0002c0002t0009g0123 a0002c0002t0009g0124 a0002c0002t0009g0125 a0002c0002t0009g0322 a0002c0002t0020g0033 a0002c0002t0022g0007 a0002c0002t0040g0077 a0006c0007t0001g0030 a0006c0007t0001g0232 a0006c0007t0020g0164 a0006c0007t0046g0042 a0011c0010t0001g0005	33	366	0.0902	-13	c.416 others(32): Show c.416+11088_416+11100delAAAAAAAAAAAAA	DSE	ENSG00000111817.19	transcript	ENST00000644252.3	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
DSN1_chr20_36746795_36778763	36767917	CACAATAG others(6): Show CACAATAGCAGTTA	C C	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	332	0.0030	-13	c.429 others(26): Show c.429+39_429+51delTAACTGCTATTGT	DSN1	ENSG00000149636.16	transcript	ENST00000373750.9	protein_coding	4/10			chr20	TogoVar
DSPP_chr4_87603529_87621873	87605101	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0073 a0002c0002t0001g0073	1	450	0.0022	-13	c.-35 others(24): Show c.-3547_-3535delTTTTTTTTTTTTT	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding		3427		chr4	TogoVar
DSP_chr6_7536671_7591714	7552875	GTGGTATA others(6): Show GTGGTATAACTAAT	G G	intron_variant intron_variant	MODIFIER	HG01261.hp2 NA18957.hp1 NA18991.hp2 others(1): Show HG01261.hp2 NA18957.hp1 NA18991.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 others(1): Show a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051	4	396	0.0101	-13	c.171 others(30): Show c.171-2842_171-2830delTGGTATAACTAAT	DSP	ENSG00000096696.16	transcript	ENST00000379802.8	protein_coding	1/23			chr6	TogoVar
DSTYK_chr1_205137505_205216702	205160522	GACGGGGT others(6): Show GACGGGGTTTTGCC	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG02809.hp1 others(1): Show HG01069.hp2 HG01071.hp2 HG02809.hp1 HG03098.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0009 a0001c0006t0003g0010 a0001c0006t0003g0011 others(1): Show a0001c0006t0003g0009 a0001c0006t0003g0010 a0001c0006t0003g0011 a0001c0006t0003g0012	4	348	0.0115	-13	c.194 others(30): Show c.1949-265_1949-253delGGCAAAACCCCGT	DSTYK	ENSG00000133059.18	transcript	ENST00000367162.8	protein_coding	7/12			chr1	TogoVar
DSTYK_chr1_205137505_205216702	205207755	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp2 HG01175.hp2 others(21): Show HG00544.hp2 HG00609.hp2 HG01175.hp2 HG01192.hp2 HG01358.hp2 HG01515.hp1 HG01891.hp1 HG01981.hp2 HG02027.hp1 HG02109.hp2 HG02486.hp2 HG02970.hp1 HG03540.hp2 HG03688.hp2 NA18967.hp2 NA18974.hp1 NA18978.hp2 NA18981.hp2 NA19000.hp2 NA19062.hp1 NA19064.hp2 NA19082.hp1 NA19088.hp1 NA20300.hp1	a0001 a0008 a0011 a0001 a0008 a0011	a0001c0001 a0001c0002 a0008c0014 others(1): Show a0001c0001 a0001c0002 a0008c0014 a0011c0010	a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 a0001c0002t0005 a0008c0014t0005 a0011c0010t0015	a0001c0001t0002g0004 a0001c0001t0002g0114 a0001c0001t0002g0115 others(20): Show a0001c0001t0002g0004 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0314 a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0052 a0001c0001t0004g0053 a0001c0001t0004g0055 a0001c0001t0004g0056 a0001c0001t0014g0054 a0001c0002t0005g0277 a0001c0002t0005g0278 a0001c0002t0005g0280 a0008c0014t0005g0279 a0011c0010t0015g0014	24	348	0.0690	-13	c.265 others(30): Show c.265+3503_265+3515delTTTTTTTTTTTTT	DSTYK	ENSG00000133059.18	transcript	ENST00000367162.8	protein_coding	1/12			chr1	TogoVar
DST_chr6_56452996_56959830	56483527	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0041 a0041	a0041c0031 a0041c0031	a0041c0031t0001 a0041c0031t0001	a0041c0031t0001g0001 a0041c0031t0001g0001	1	84	0.0119	-13	c.212 others(32): Show c.21208-663_21208-651delAAAAAAAAAAAAA	DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	88/103			chr6	TogoVar
DST_chr6_56452996_56959830	56917005	AAAAAAAA others(6): Show AAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01109.hp2 HG01433.hp1 others(11): Show HG01074.hp1 HG01109.hp2 HG01433.hp1 HG02055.hp2 HG02145.hp1 HG02559.hp1 HG02559.hp2 HG02683.hp2 HG02818.hp2 HG02895.hp2 HG03098.hp1 HG03471.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0008 others(7): Show a0001 a0004 a0008 a0009 a0010 a0011 a0017 a0026 a0034 a0035	a0001c0005 a0001c0058 a0004c0003 others(8): Show a0001c0005 a0001c0058 a0004c0003 a0008c0049 a0009c0056 a0010c0057 a0011c0015 a0017c0023 a0026c0014 a0034c0050 a0035c0055	a0001c0005t0001 a0001c0058t0001 a0004c0003t0004 others(8): Show a0001c0005t0001 a0001c0058t0001 a0004c0003t0004 a0008c0049t0001 a0009c0056t0001 a0010c0057t0001 a0011c0015t0001 a0017c0023t0001 a0026c0014t0001 a0034c0050t0001 a0035c0055t0002	a0001c0005t0001g0032 a0001c0005t0001g0079 a0001c0005t0001g0080 others(11): Show a0001c0005t0001g0032 a0001c0005t0001g0079 a0001c0005t0001g0080 a0001c0058t0001g0010 a0004c0003t0004g0078 a0004c0003t0004g0081 a0008c0049t0001g0020 a0009c0056t0001g0016 a0010c0057t0001g0015 a0011c0015t0001g0058 a0017c0023t0001g0082 a0026c0014t0001g0059 a0034c0050t0001g0019 a0035c0055t0002g0021	14	84	0.1667	-13	c.217 others(32): Show c.217-16397_217-16385delCTTTTTTTTTTTT	DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	2/103			chr6	TogoVar
DST_chr6_56452996_56959830	56954882	TGCGCAGC others(6): Show TGCGCAGCCCCCGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0061 a0003c0004t0001g0061	1	84	0.0119	-13	c.-30 others(22): Show c.-308_-296delCCGGGGGCTGCGC	DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding		53		chr6	TogoVar
DTD1_chr20_18583054_18771644	18708206	TTTTATAT others(6): Show TTTTATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG03195.hp1 HG02071.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0026 a0001c0001t0001 a0001c0001t0026	a0001c0001t0001g0286 a0001c0001t0026g0365 a0001c0001t0001g0286 a0001c0001t0026g0365	2	398	0.0050	-13	c.478 others(32): Show c.478-35892_478-35880delTTATATATATAAT	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
DTD1_chr20_18583054_18771644	18766760	AAAAAAAA others(6): Show AAAAAAAAAGAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 homoSapiens_chm13v2.hp1 HG01099.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0035 a0001c0001t0024 a0001c0001t0035	a0001c0001t0024g0367 a0001c0001t0035g0368 a0001c0001t0024g0367 a0001c0001t0035g0368	2	398	0.0050	-13	c.34 others(24): Show c.3421_*3433delAAAAAAAAGAAAG	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding		117		chr20	TogoVar
DTL_chr1_212030748_212110013	212051442	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	364	0.0028	-13	c.460 others(30): Show c.460+4057_460+4069delTTTTTTTTTTTTT	DTL	ENSG00000143476.18	transcript	ENST00000366991.5	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
DTL_chr1_212030748_212110013	212084189	ATTTCTTT others(6): Show ATTTCTTTTTTTCT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00621.hp1 HG00639.hp1 others(12): Show HG00408.hp2 HG00621.hp1 HG00639.hp1 HG01243.hp2 HG01516.hp1 HG01517.hp2 HG02083.hp2 HG02258.hp2 HG02738.hp2 HG03490.hp2 HG04115.hp1 HG04184.hp2 NA18747.hp1 NA18968.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0231 a0001c0001t0001g0232 others(11): Show a0001c0001t0001g0019 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244	15	364	0.0412	-13	c.126 others(32): Show c.1261+3451_1261+3463delCTTTTCTTTTTTT	DTL	ENSG00000143476.18	transcript	ENST00000366991.5	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
DTNA_chr18_34705298_34896844	34753377	TTTTTTAT others(6): Show TTTTTTATTTTTTA	T T	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0021 a0001c0001t0005g0021	1	112	0.0089	-13	c.-1- others(28): Show c.-1-2593_-1-2581delATTTTTTATTTTT	DTNA	ENSG00000134769.23	transcript	ENST00000444659.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr18	TogoVar
DTNA_chr18_34705298_34896844	34790567	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02451.hp1 HG02572.hp1 others(7): Show HG02055.hp2 HG02451.hp1 HG02572.hp1 HG02622.hp2 HG02717.hp2 HG02809.hp2 HG02896.hp1 HG02897.hp2 HG03471.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 a0001c0001t0017 a0001c0001t0020 a0001c0005t0010	a0001c0001t0001g0014 a0001c0001t0001g0071 a0001c0001t0001g0085 others(7): Show a0001c0001t0001g0014 a0001c0001t0001g0071 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0003g0091 a0001c0001t0015g0046 a0001c0001t0017g0088 a0001c0001t0020g0092 a0001c0005t0010g0089	10	112	0.0893	-13	c.149 others(30): Show c.149-3460_149-3448delTTTTTTTTTTTTT	DTNA	ENSG00000134769.23	transcript	ENST00000444659.6	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr18	TogoVar
DTNBP1_chr6_15517807_15668028	15595250	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02148.hp1 HG03453.hp1 HG00642.hp2 HG02148.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0002g0098 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0002g0098	3	314	0.0096	-13	c.489 others(30): Show c.489-2182_489-2170delAAAAAAAAAAAAA	DTNBP1	ENSG00000047579.20	transcript	ENST00000344537.10	protein_coding	6/9			chr6	TogoVar
DTNB_chr2_25372243_25678577	25382519	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	168	0.0060	-13	c.187 others(32): Show c.1879+1304_1879+1316delAAAAAAAAAAAAA	DTNB	ENSG00000138101.20	transcript	ENST00000406818.8	protein_coding	19/20			chr2	TogoVar
DTNB_chr2_25372243_25678577	25415392	GCATGCTA others(6): Show GCATGCTACCATGC	G G	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02897.hp1 HG01169.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0053 a0001c0002t0001g0054 a0001c0001t0001g0053 a0001c0002t0001g0054	2	168	0.0119	-13	c.157 others(32): Show c.1575+4110_1575+4122delGCATGGTAGCATG	DTNB	ENSG00000138101.20	transcript	ENST00000406818.8	protein_coding	16/20			chr2	TogoVar
DTNB_chr2_25372243_25678577	25503053	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	168	0.0060	-13	c.100 others(34): Show c.1002-20193_1002-20181delTTTTTTTTTTTTT	DTNB	ENSG00000138101.20	transcript	ENST00000406818.8	protein_coding	9/20			chr2	TogoVar

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