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
DGKI_chr7_137376037_137851974	137618151	A A	ATATATAT others(12): Show ATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02976.hp1 HG01099.hp2 HG02976.hp1	a0001 a0001	a0001c0003 a0001c0018 a0001c0003 a0001c0018	a0001c0003t0006 a0001c0018t0005 a0001c0003t0006 a0001c0018t0005	a0001c0003t0006g0057 a0001c0018t0005g0065 a0001c0003t0006g0057 a0001c0018t0005g0065	2	17	0.1176	19	c.993 others(36): Show c.993+1672_993+1673insAAATATATATATATATATA	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	8/32			chr7	TogoVar
DGKI_chr7_137376037_137851974	137618151	A A	ATATATAT others(12): Show ATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03654.hp2 HG02451.hp1 HG03654.hp2	a0001 a0001	a0001c0008 a0001c0021 a0001c0008 a0001c0021	a0001c0008t0019 a0001c0021t0002 a0001c0008t0019 a0001c0021t0002	a0001c0008t0019g0059 a0001c0021t0002g0030 a0001c0008t0019g0059 a0001c0021t0002g0030	2	17	0.1176	19	c.993 others(36): Show c.993+1672_993+1673insAAAAATATATATATATATA	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	8/32			chr7	TogoVar
DGKI_chr7_137376037_137851974	137618151	A A	ATATATAT others(12): Show ATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0089 a0001c0004t0003g0089	1	16	0.0625	19	c.993 others(36): Show c.993+1672_993+1673insAAAAAAAAATATATATATA	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	8/32			chr7	TogoVar
DGLUCY_chr14_91109073_91230632	91202058	A A	ATAATAAT others(12): Show ATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0044 a0001c0001t0006g0044	1	57	0.0175	19	c.144 others(38): Show c.1444+2153_1444+2154insTAATAATAATAATAATAAT	DGLUCY	ENSG00000133943.21	transcript	ENST00000256324.15	protein_coding	11/13			chr14	TogoVar
DGUOK_chr2_73921880_73963946	73923641	C C	CAAGAAAA others(12): Show CAAGAAAAGAAAAGAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	79	0.0127	19	c.-32 others(30): Show c.-3270_-3269insAAGAAAAGAAAAGAAAAAA	DGUOK	ENSG00000114956.20	transcript	ENST00000264093.9	protein_coding		3238		chr2	TogoVar
DHCR24_chr1_54844627_54892195	54878514	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	13	0.0769	19	c.388 others(36): Show c.388-2486_388-2468dupTTTTTTTTTTTTTTTTTTT	DHCR24	ENSG00000116133.13	transcript	ENST00000371269.9	protein_coding	2/8			chr1	TogoVar
DHCR7_chr11_71429411_71453393	71444623	T T	TTTCTAGT others(12): Show TTTCTAGTTGTTGTTTTGTC	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0007 a0007	a0007c0029 a0007c0029	a0007c0029t0001 a0007c0029t0001	a0007c0029t0001g0054 a0007c0029t0001g0054	1	408	0.0025	19	c.98+ others(32): Show c.98+231_98+232insGACAAAACAACAACTAGAA	DHCR7	ENSG00000172893.18	transcript	ENST00000355527.8	protein_coding	3/8			chr11	TogoVar
DHFR_chr5_80621226_80659983	80654344	C C	CTGGCGCG others(12): Show CTGGCGCGTCCCGCCCAGGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(168): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG01943.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02083.hp1 HG02109.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp2 HG02922.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03579.hp2 HG03654.hp1 HG03710.hp1 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18940.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18953.hp1 NA18955.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18967.hp2 NA18972.hp1 NA18972.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18986.hp2 NA18989.hp2 NA18991.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA19000.hp1 NA19001.hp1 NA19002.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19056.hp1 NA19058.hp2 NA19062.hp1 NA19064.hp2 NA19065.hp2 NA19067.hp2 NA19075.hp2 NA19079.hp2 NA19081.hp1 NA19085.hp2 NA19088.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(25): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0015 a0001c0001t0017 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0026 a0001c0001t0027 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0002t0002	a0001c0001t0002g0001 a0001c0001t0002g0013 a0001c0001t0002g0056 others(124): Show a0001c0001t0002g0001 a0001c0001t0002g0013 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0224 a0001c0001t0002g0226 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0004g0004 a0001c0001t0004g0012 a0001c0001t0004g0025 a0001c0001t0004g0172 a0001c0001t0004g0174 a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0004g0177 a0001c0001t0004g0178 a0001c0001t0004g0179 a0001c0001t0004g0180 a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0004g0190 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0193 a0001c0001t0004g0194 a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0001t0005g0006 a0001c0001t0005g0050 a0001c0001t0005g0051 a0001c0001t0005g0052 a0001c0001t0005g0053 a0001c0001t0005g0054 a0001c0001t0005g0201 a0001c0001t0005g0202 a0001c0001t0005g0203 a0001c0001t0005g0204 a0001c0001t0005g0205 a0001c0001t0005g0206 a0001c0001t0005g0207 a0001c0001t0005g0208 a0001c0001t0005g0209 a0001c0001t0005g0210 a0001c0001t0006g0005 a0001c0001t0006g0046 a0001c0001t0006g0047 a0001c0001t0006g0162 a0001c0001t0006g0163 a0001c0001t0006g0165 a0001c0001t0006g0166 a0001c0001t0006g0167 a0001c0001t0006g0168 a0001c0001t0006g0169 a0001c0001t0006g0170 a0001c0001t0006g0171 a0001c0001t0007g0048 a0001c0001t0007g0049 a0001c0001t0007g0173 a0001c0001t0007g0197 a0001c0001t0007g0198 a0001c0001t0007g0199 a0001c0001t0008g0249 a0001c0001t0008g0250 a0001c0001t0008g0251 a0001c0001t0008g0252 a0001c0001t0008g0253 a0001c0001t0008g0254 a0001c0001t0012g0059 a0001c0001t0012g0060 a0001c0001t0012g0061 a0001c0001t0012g0062 a0001c0001t0015g0055 a0001c0001t0015g0225 a0001c0001t0015g0230 a0001c0001t0017g0026 a0001c0001t0020g0211 a0001c0001t0020g0212 a0001c0001t0021g0216 a0001c0001t0021g0217 a0001c0001t0022g0257 a0001c0001t0022g0258 a0001c0001t0023g0260 a0001c0001t0023g0261 a0001c0001t0026g0070 a0001c0001t0027g0069 a0001c0001t0033g0183 a0001c0001t0034g0164 a0001c0001t0035g0200 a0001c0001t0036g0213 a0001c0001t0037g0214 a0001c0001t0038g0215 a0001c0001t0039g0218 a0001c0001t0040g0219 a0001c0001t0041g0223 a0001c0001t0042g0256 a0001c0001t0043g0259 a0001c0001t0044g0262 a0001c0002t0002g0227	171	376	0.4548	19	c.86+ others(30): Show c.86+59_86+60insACCTGGGCGGGACGCGCCA	DHFR	ENSG00000228716.7	transcript	ENST00000439211.7	protein_coding	1/5			chr5	TogoVar
DHRS4L2_chr14_23983929_24011403	24001957	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01981.hp2 HG01099.hp1 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0028 a0001c0001t0001g0016 a0001c0001t0001g0028	2	5	0.4000	19	c.665 others(34): Show c.665+456_665+457insTTTTTTTTTTTTTTTTTTT	DHRS4L2	ENSG00000187630.18	transcript	ENST00000335125.11	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
DHRS9_chr2_169064563_169101167	169079920	G G	GAGAGAGA others(12): Show GAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	207	0.0048	19	c.-59 others(36): Show c.-59-1603_-59-1602insAGAGAGAGAGAGAGAGAGA	DHRS9	ENSG00000073737.17	transcript	ENST00000674881.1	protein_coding	1/4			chr2	TogoVar
DHRS9_chr2_169064563_169101167	169079983	G G	GAGAGAGA others(12): Show GAGAGAGAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	210	0.0048	19	c.-59 others(36): Show c.-59-1537_-59-1536insGAGAAGAAAGAAAGAAAGA	DHRS9	ENSG00000073737.17	transcript	ENST00000674881.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
DHRSX_chrX_2214506_2505976	2371223	G G	GTAGTCCC others(12): Show GTAGTCCCTCCCCATTACCA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02717.hp1 HG02572.hp1 HG02717.hp1	a0003 a0003	a0003c0003 a0003c0012 a0003c0003 a0003c0012	a0003c0003t0005 a0003c0012t0005 a0003c0003t0005 a0003c0012t0005	a0003c0003t0005g0006 a0003c0012t0005g0004 a0003c0003t0005g0006 a0003c0012t0005g0004	2	48	0.0417	19	c.286 others(38): Show c.286+37503_286+37521dupTGGTAATGGGGAGGGACTA	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHTKD1_chr10_12063954_12128221	12100287	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01074.hp1 HG01358.hp2 others(30): Show HG00280.hp1 HG01074.hp1 HG01358.hp2 HG02027.hp1 HG02040.hp2 HG02074.hp2 HG02148.hp1 HG02155.hp1 HG02735.hp2 HG03017.hp1 HG03098.hp1 HG03239.hp2 HG03669.hp1 HG03710.hp1 HG03831.hp2 HG03927.hp1 HG04184.hp1 HG04199.hp1 NA18952.hp2 NA18972.hp2 NA18975.hp1 NA18985.hp1 NA18985.hp2 NA18991.hp2 NA18992.hp2 NA18998.hp1 NA19000.hp1 NA19011.hp2 NA19012.hp1 NA19062.hp2 NA19064.hp2 NA19068.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0010 a0001c0001 a0001c0006 a0001c0010	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0006t0001 a0001c0010t0001	a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 others(30): Show a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0141 a0001c0001t0001g0147 a0001c0001t0001g0165 a0001c0001t0001g0204 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0259 a0001c0001t0001g0291 a0001c0001t0001g0300 a0001c0001t0001g0318 a0001c0001t0001g0327 a0001c0001t0001g0332 a0001c0001t0001g0339 a0001c0001t0001g0341 a0001c0001t0001g0344 a0001c0001t0001g0346 a0001c0001t0001g0357 a0001c0001t0001g0366 a0001c0001t0004g0321 a0001c0001t0005g0340 a0001c0006t0001g0252 a0001c0006t0001g0323 a0001c0006t0001g0351 a0001c0010t0001g0295	33	147	0.2245	19	c.175 others(34): Show c.1756+39_1756+40insTTTTTTTTTTTTTTTTTTT	DHTKD1	ENSG00000181192.12	transcript	ENST00000263035.9	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
DHX15_chr4_24522475_24589554	24550094	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	22	0.0455	19	c.108 others(38): Show c.1081-1091_1081-1073dupTTTTTTTTTTTTTTTTTTT	DHX15	ENSG00000109606.13	transcript	ENST00000336812.5	protein_coding	5/13			chr4	TogoVar
DHX15_chr4_24522475_24589554	24574205	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG03471.hp1 NA18939.hp2 others(4): Show HG01496.hp2 HG03471.hp1 NA18939.hp2 NA18951.hp1 NA18952.hp2 NA19002.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0312 others(4): Show a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316	7	49	0.1429	19	c.507 others(36): Show c.507+2019_507+2037dupTTTTTTTTTTTTTTTTTTT	DHX15	ENSG00000109606.13	transcript	ENST00000336812.5	protein_coding	2/13			chr4	TogoVar
DHX29_chr5_55251055_55312694	55268715	C C	CTGGAATG others(12): Show CTGGAATGGCACAGTAAGCG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02717.hp2 HG01168.hp2 HG02717.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0042 a0002c0004t0004g0043 a0002c0004t0004g0042 a0002c0004t0004g0043	2	338	0.0059	19	c.329 others(36): Show c.3294+697_3294+698insCGCTTACTGTGCCATTCCA	DHX29	ENSG00000067248.11	transcript	ENST00000251636.10	protein_coding	21/26			chr5	TogoVar
DHX34_chr19_47344315_47387704	47386414	G G	GAGATCGA others(12): Show GAGATCGAGACCATCCTGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	380	0.0026	19	c.43 others(30): Show c.4301_*4302insAGATCGAGACCATCCTGGC	DHX34	ENSG00000134815.19	transcript	ENST00000328771.9	protein_coding		3711		chr19	TogoVar
DHX57_chr2_38792729_38880934	38837611	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00558.hp1 others(86): Show HG00323.hp2 HG00423.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp2 HG01192.hp2 HG01243.hp2 HG01257.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG02080.hp2 HG02135.hp1 HG02135.hp2 HG02258.hp1 HG02523.hp1 HG02559.hp2 HG02602.hp2 HG02630.hp2 HG02698.hp2 HG02895.hp2 HG02965.hp2 HG03017.hp1 HG03139.hp2 HG03239.hp2 HG03486.hp1 HG03540.hp1 HG03654.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03942.hp2 HG06807.hp2 NA18747.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18988.hp1 NA18994.hp2 NA18999.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19030.hp1 NA19060.hp1 NA19062.hp1 NA19066.hp1 NA19066.hp2 NA19079.hp1 NA19086.hp1 NA19087.hp2 NA19088.hp1 NA20129.hp1 NA20300.hp1 NA20905.hp2	a0002 a0006 a0011 others(1): Show a0002 a0006 a0011 a0012	a0002c0002 a0002c0008 a0002c0009 others(5): Show a0002c0002 a0002c0008 a0002c0009 a0002c0010 a0002c0022 a0006c0014 a0011c0018 a0012c0023	a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 others(9): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0002c0002t0008 a0002c0008t0002 a0002c0009t0003 a0002c0010t0001 a0002c0022t0001 a0006c0014t0004 a0011c0018t0001 a0012c0023t0001	a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 others(86): Show a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0030 a0002c0002t0001g0032 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0051 a0002c0002t0001g0054 a0002c0002t0001g0059 a0002c0002t0001g0061 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0069 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0082 a0002c0002t0001g0088 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0095 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0111 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0123 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0168 a0002c0002t0001g0258 a0002c0002t0003g0017 a0002c0002t0003g0034 a0002c0002t0004g0274 a0002c0002t0004g0275 a0002c0002t0004g0276 a0002c0002t0006g0087 a0002c0002t0008g0269 a0002c0008t0002g0097 a0002c0008t0002g0139 a0002c0008t0002g0140 a0002c0009t0003g0050 a0002c0009t0003g0055 a0002c0010t0001g0029 a0002c0010t0001g0118 a0002c0010t0001g0119 a0002c0022t0001g0081 a0006c0014t0004g0277 a0011c0018t0001g0012 a0012c0023t0001g0112	89	110	0.8091	19	c.254 others(36): Show c.2542+219_2542+220insTTTTTTTTTTTTTTTTTTT	DHX57	ENSG00000163214.21	transcript	ENST00000457308.6	protein_coding	13/23			chr2	TogoVar
DHX8_chr17_43478975_43530670	43511456	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01261.hp1 HG02027.hp2 others(10): Show HG00408.hp2 HG01261.hp1 HG02027.hp2 HG02071.hp1 HG02165.hp1 NA18943.hp2 NA18945.hp1 NA18978.hp2 NA18989.hp2 NA18991.hp2 NA18994.hp2 NA19011.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0027 a0001c0001t0003g0194 a0001c0001t0003g0206 others(9): Show a0001c0001t0003g0027 a0001c0001t0003g0194 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0214 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0242 a0001c0001t0005g0239	13	16	0.8125	19	c.250 others(38): Show c.2503-1905_2503-1887dupTTTTTTTTTTTTTTTTTTT	DHX8	ENSG00000067596.12	transcript	ENST00000262415.8	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
DIAPH2_chrX_96679842_97609997	96717828	A A	ATATATAT others(12): Show ATATATATATATGTATATAG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0139 a0001c0001t0004g0139	1	147	0.0068	19	c.133 others(38): Show c.133-17919_133-17918insGTATATAGTATATATATAT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	1/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	96807944	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	35	0.0286	19	c.447 others(38): Show c.447+49707_447+49725dupAAAAAAAAAAAAAAAAAAA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	4/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	96939668	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0038 a0001c0001t0005g0038	1	104	0.0096	19	c.132 others(36): Show c.1325+300_1325+301insTTTTTTTTTTTTTTTTTTT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	12/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97300931	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA19082.hp1 NA18982.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0128 a0001c0001t0001g0099 a0001c0001t0001g0128	2	31	0.0645	19	c.284 others(40): Show c.2845-47169_2845-47151dupAAAAAAAAAAAAAAAAAAA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	23/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97348277	T T	TTTGGACA others(12): Show TTTGGACACTAGATCGCGTG	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18967.hp1 NA18967.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0135 a0002c0006t0001g0135	1	147	0.0068	19	c.300 others(32): Show c.3009+1_3009+2insACACTAGATCGCGTGTTGG	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	24/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH3_chr13_59660583_60168928	59771511	C C	CAGAGGCT others(12): Show CAGAGGCTGGAGAACCTCTG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01928.hp1 others(14): Show HG01070.hp1 HG01071.hp1 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02132.hp2 HG02148.hp2 HG02602.hp1 HG02615.hp2 HG02738.hp2 HG03041.hp1 HG03942.hp1 NA18990.hp2 NA19064.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0004 a0002c0009 others(1): Show a0001c0001 a0002c0004 a0002c0009 a0003c0008	a0001c0001t0001 a0002c0004t0001 a0002c0004t0002 others(2): Show a0001c0001t0001 a0002c0004t0001 a0002c0004t0002 a0002c0009t0001 a0003c0008t0001	a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 others(14): Show a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0120 a0001c0001t0001g0127 a0001c0001t0001g0205 a0002c0004t0001g0037 a0002c0004t0001g0038 a0002c0004t0001g0045 a0002c0004t0001g0046 a0002c0004t0001g0047 a0002c0004t0001g0050 a0002c0004t0002g0048 a0002c0009t0001g0049 a0003c0008t0001g0101 a0003c0008t0001g0111	17	206	0.0825	19	c.331 others(38): Show c.3319+2659_3319+2677dupCAGAGGTTCTCCAGCCTCT	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	27/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	59802667	A A	ATTATTTT others(12): Show ATTATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0044 a0002c0003t0002g0044	1	26	0.0385	19	c.316 others(38): Show c.3163+8120_3163+8121insAAAAAAAAAAAAAAAATAA	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	25/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	59802667	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	26	0.0385	19	c.316 others(38): Show c.3163+8102_3163+8120dupAAAAAAAAAAAAAAAAAAA	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	25/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	60052959	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA18747.hp1 HG02818.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0102 a0001c0001t0001g0081 a0001c0001t0001g0102	2	48	0.0417	19	c.496 others(38): Show c.496-10158_496-10140dupTTTTTTTTTTTTTTTTTTT	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	4/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	60125394	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02165.hp2 NA18985.hp1 HG00609.hp2 HG02165.hp2 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0151 a0001c0001t0001g0190 a0001c0001t0001g0139 a0001c0001t0001g0151 a0001c0001t0001g0190	3	43	0.0698	19	c.213 others(36): Show c.213+7544_213+7562dupAAAAAAAAAAAAAAAAAAA	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	2/27			chr13	TogoVar
DIMT1_chr5_62382254_62408905	62396139	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02135.hp2 HG02523.hp1 others(4): Show HG02055.hp1 HG02135.hp2 HG02523.hp1 HG02630.hp1 NA18953.hp2 NA18961.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0002 a0001c0001t0004 a0001c0001t0009	a0001c0001t0002g0122 a0001c0001t0002g0138 a0001c0001t0004g0030 others(2): Show a0001c0001t0002g0122 a0001c0001t0002g0138 a0001c0001t0004g0030 a0001c0001t0004g0031 a0001c0001t0009g0123	7	130	0.0538	19	c.447 others(36): Show c.447-1533_447-1532insAAAAAAAAAAAAAAAAAAA	DIMT1	ENSG00000086189.11	transcript	ENST00000199320.9	protein_coding	6/11			chr5	TogoVar
DIO1_chr1_53889187_53916086	53902997	T T	TTCCCACA others(12): Show TTCCCACAGCCTCCCTGCCC	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	31	0.0323	19	c.338 others(36): Show c.338-1666_338-1665insCACAGCCTCCCTGCCCTCC	DIO1	ENSG00000211452.12	transcript	ENST00000361921.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
DIP2A_chr21_46453891_46575015	46461271	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0006 a0006	a0006c0032 a0006c0032	a0006c0032t0002 a0006c0032t0002	a0006c0032t0002g0017 a0006c0032t0002g0017	1	82	0.0122	19	c.91+ others(34): Show c.91+2053_91+2071dupAAAAAAAAAAAAAAAAAAA	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr21	TogoVar
DIP2A_chr21_46453891_46575015	46463719	T T	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0368 a0001c0001t0011g0368	1	368	0.0027	19	c.91+ others(34): Show c.91+4497_91+4498insGTGTGTGTGTGTGTGTGTG	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	1/37			chr21	TogoVar
DIP2A_chr21_46453891_46575015	46464817	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	99	0.0101	19	c.91+ others(34): Show c.91+5604_91+5622dupTTTTTTTTTTTTTTTTTTT	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr21	TogoVar
DIP2A_chr21_46453891_46575015	46477574	T T	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0043 a0001c0002t0001g0043	1	369	0.0027	19	c.92- others(34): Show c.92-7183_92-7182insGTGTGTGTGTGTGTGTGTG	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	1/37			chr21	TogoVar
DIP2A_chr21_46453891_46575015	46495230	T T	TCTCTCTC others(12): Show TCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0297 a0001c0003t0003g0297	1	366	0.0027	19	c.284 others(36): Show c.284-1758_284-1757insCTCTCTCTCTCTCTCTCTC	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	3/37			chr21	TogoVar
DIP2A_chr21_46453891_46575015	46506724	T T	TTTCTTTC others(12): Show TTTCTTTCTTTCTTCCTTTC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0066 a0001c0004t0001g0068 a0001c0004t0001g0066 a0001c0004t0001g0068	2	202	0.0099	19	c.784 others(36): Show c.784+2237_784+2238insCTTTCTTTCTTCCTTTCTT	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	6/37		INFO_REALIGN_3_PRIME	chr21	TogoVar
DIP2A_chr21_46453891_46575015	46528527	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0369 a0001c0001t0011g0369	1	45	0.0222	19	c.110 others(36): Show c.1103-542_1103-524dupTTTTTTTTTTTTTTTTTTT	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	8/37		INFO_REALIGN_3_PRIME	chr21	TogoVar
DIP2A_chr21_46453891_46575015	46573645	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG03654.hp1 HG01891.hp2 HG03654.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0009 a0001c0005 a0002c0009	a0001c0005t0003 a0002c0009t0006 a0001c0005t0003 a0002c0009t0006	a0001c0005t0003g0295 a0002c0009t0006g0181 a0001c0005t0003g0295 a0002c0009t0006g0181	2	50	0.0400	19	c.60 others(30): Show c.6023_*6024insAAAAAAAAAAAAAAAAAAA	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding		3631		chr21	TogoVar
DIP2B_chr12_50499985_50753657	50537114	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	33	0.0303	19	c.100 others(38): Show c.100+31883_100+31901dupTTTTTTTTTTTTTTTTTTT	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50593799	C C	CCTCCCCC others(12): Show CCTCCCCCCTCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	203	0.0049	19	c.101 others(38): Show c.101-32171_101-32170insCCTCCCCTCCCCTCTCCCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50716958	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00673.hp2 HG01928.hp1 others(10): Show HG00609.hp2 HG00673.hp2 HG01928.hp1 HG01943.hp2 HG02027.hp1 HG03669.hp2 HG04204.hp2 NA18950.hp2 NA18993.hp2 NA18995.hp2 NA18998.hp2 NA19011.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0034 a0001c0001t0001g0120 a0001c0001t0001g0124 others(10): Show a0001c0001t0001g0034 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0149 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0176 a0001c0001t0014g0052	13	26	0.5000	19	c.285 others(38): Show c.2852-1746_2852-1728dupTTTTTTTTTTTTTTTTTTT	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	23/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	368038	C C	CCGGGAAG others(12): Show CCGGGAAGCCCGCGGTTGCT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0058 a0001c0002t0003g0058	1	88	0.0114	19	c.213 others(38): Show c.2131+1437_2131+1455dupAGCAACCGCGGGCTTCCCG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	18/36			chr10	TogoVar
DIP2C_chr10_269201_694668	429405	C C	CCCCCGGG others(12): Show CCCCCGGGCCCTGGCTGCCT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00621.hp2 HG01975.hp2 others(7): Show HG00597.hp1 HG00621.hp2 HG01975.hp2 HG02165.hp1 HG02300.hp1 HG02717.hp1 HG03834.hp2 NA18962.hp2 NA19066.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0009 others(1): Show a0001c0002 a0001c0004 a0001c0009 a0001c0017	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(3): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0004t0001 a0001c0009t0001 a0001c0017t0002	a0001c0002t0001g0067 a0001c0002t0002g0051 a0001c0002t0003g0031 others(7): Show a0001c0002t0001g0067 a0001c0002t0002g0051 a0001c0002t0003g0031 a0001c0002t0003g0037 a0001c0002t0003g0055 a0001c0002t0003g0063 a0001c0002t0003g0069 a0001c0004t0001g0061 a0001c0009t0001g0013 a0001c0017t0002g0065	10	68	0.1471	19	c.395 others(36): Show c.395-6373_395-6372insAGGCAGCCAGGGCCCGGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	4/36			chr10	TogoVar
DIP2C_chr10_269201_694668	477595	A A	AGGGAGGA others(12): Show AGGGAGGAAGGTGGATGAGT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0002 a0001c0021t0002	a0001c0021t0002g0081 a0001c0021t0002g0081	1	32	0.0313	19	c.158 others(36): Show c.158-5047_158-5046insACTCATCCACCTTCCTCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DIP2C_chr10_269201_694668	477595	A A	AGGGAGGA others(12): Show AGGGAGGAAGGTGGATGGGT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0084 a0001c0002t0003g0084	1	32	0.0313	19	c.158 others(36): Show c.158-5065_158-5047dupACCCATCCACCTTCCTCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DIP2C_chr10_269201_694668	478008	A A	AGAGAGGA others(12): Show AGAGAGGAGGGAGGGGAGAG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0086 a0001c0004t0001g0086	1	13	0.0769	19	c.158 others(36): Show c.158-5460_158-5459insCTCTCCCCTCCCTCCTCTC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DIP2C_chr10_269201_694668	478396	G G	GGCAGACG others(12): Show GGCAGACGGGGAGGGGAGGA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG00609.hp1 others(46): Show HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG01258.hp1 HG01515.hp1 HG01934.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02280.hp2 HG02300.hp1 HG02647.hp1 HG02717.hp1 HG02809.hp2 HG03453.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 NA18747.hp1 NA18747.hp2 NA18962.hp1 NA18962.hp2 NA18970.hp1 NA19007.hp1 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19081.hp1 NA19081.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0001c0019 a0001c0023	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(18): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0002 a0001c0004t0001 a0001c0004t0003 a0001c0005t0002 a0001c0006t0001 a0001c0006t0002 a0001c0007t0007 a0001c0008t0001 a0001c0009t0001 a0001c0009t0003 a0001c0011t0003 a0001c0019t0006 a0001c0023t0003	a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0022 others(46): Show a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0079 a0001c0001t0003g0008 a0001c0001t0003g0075 a0001c0001t0004g0019 a0001c0001t0005g0023 a0001c0001t0010g0020 a0001c0002t0001g0030 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0067 a0001c0002t0002g0051 a0001c0002t0002g0068 a0001c0002t0003g0029 a0001c0002t0003g0031 a0001c0002t0003g0037 a0001c0002t0003g0055 a0001c0002t0003g0058 a0001c0002t0003g0063 a0001c0002t0003g0066 a0001c0002t0003g0069 a0001c0003t0002g0021 a0001c0003t0002g0049 a0001c0003t0002g0060 a0001c0003t0002g0062 a0001c0003t0002g0064 a0001c0003t0002g0070 a0001c0003t0002g0071 a0001c0004t0001g0061 a0001c0004t0003g0048 a0001c0005t0002g0015 a0001c0005t0002g0016 a0001c0005t0002g0087 a0001c0006t0001g0034 a0001c0006t0002g0033 a0001c0006t0002g0054 a0001c0007t0007g0056 a0001c0008t0001g0017 a0001c0009t0001g0013 a0001c0009t0003g0003 a0001c0011t0003g0088 a0001c0019t0006g0009 a0001c0023t0003g0057	49	85	0.5765	19	c.158 others(36): Show c.158-5848_158-5847insTCCTCCCCTCCCCGTCTGC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DIP2C_chr10_269201_694668	478403	G G	GGGGAGGG others(12): Show GGGGAGGGGAGGGGCAGACA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01258.hp2 HG00738.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0036 a0001c0001t0001g0039	2	88	0.0227	19	c.158 others(36): Show c.158-5855_158-5854insTGTCTGCCCCTCCCCTCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DIP2C_chr10_269201_694668	516807	G G	GGGGGGGG others(12): Show GGGGGGGGACGGGGTAGGGT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	88	0.0114	19	c.86- others(36): Show c.86-30278_86-30277insACCCTACCCCGTCCCCCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar

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