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
DEFB134_chr8_11988174_12005752	12001858	TTCTTTTT others(37): Show TTCTTTTTCTTTCTTTCTTTCTCTCTCTCTTTCTTTTTCTTTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	448	0.0022	-44	c.-12 others(55): Show c.-1242_-1199delGAGAAAGAAAAAGAAAGAGAGAGAGAAAGAAAGA AAGAAAAAGA	DEFB134	ENSG00000205882.9	transcript	ENST00000382205.6	protein_coding		1107		chr8	TogoVar
DENND2D_chr1_111180969_111205646	111190159	GTCTCAAA others(37): Show GTCTCAAAAAAAAAAAAAAAAAAAACTACCTCACAGCTTTGGGCC	G G	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA18522.hp2 HG03098.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0063 a0001c0001t0006g0278 a0001c0001t0006g0063 a0001c0001t0006g0278	2	472	0.0042	-44	c.973 others(59): Show c.973-950_973-907delGGCCCAAAGCTGTGAGGTAGTTTTTTTTTT TTTTTTTTTTGAGA	DENND2D	ENSG00000162777.17	transcript	ENST00000357640.9	protein_coding	8/11			chr1	TogoVar
DEPDC1B_chr5_60591912_60705166	60668139	ATATATAT others(37): Show ATATATATATAAAATGGATATTATATATATATAAAATGGATATTT	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02818.hp1 NA18954.hp2 others(2): Show HG00673.hp2 HG02818.hp1 NA18954.hp2 NA18981.hp1 NA19058.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0005 a0001c0001 a0006c0005	a0001c0001t0001 a0006c0005t0001 a0001c0001t0001 a0006c0005t0001	a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 others(2): Show a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0164 a0006c0005t0001g0146	5	292	0.0171	-44	c.314 others(63): Show c.314+18779_314+18822delAAATATCCATTTTATATATATATAAT ATCCATTTTATATATATA	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DEUP1_chr11_93325742_93443470	93442414	GTTTGTTG others(37): Show GTTTGTTGTGATATCTGTTCTTTTGCATTTGTTGAATATTTTACT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0110 a0002c0002t0005g0110	1	368	0.0027	-44	c.46 others(55): Show c.4696_*4739delTTTGTTGTGATATCTGTTCTTTTGCATTTGTTGA ATATTTTACT	DEUP1	ENSG00000165325.15	transcript	ENST00000298050.9	protein_coding		3945		chr11	TogoVar
DGKB_chr7_14140049_14907751	14211360	TATTTACT others(37): Show TATTTACTCTCGTGTTTTGTGATTTTACTCTCATGTTTTGTGATA	T T	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0104 a0001c0002t0013g0104	1	148	0.0068	-44	c.212 others(65): Show c.2123-33253_2123-33210delTATCACAAAACATGAGAGTAAAAT CACAAAACACGAGAGTAAAT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14211403	TATTTACT others(37): Show TATTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGATA	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0009 a0001c0009t0009	a0001c0009t0009g0125 a0001c0009t0009g0125	1	148	0.0068	-44	c.212 others(65): Show c.2123-33296_2123-33253delTATCACAAAACACGAGAGTAAAAT CACAAAACATGAGAGTAAAT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14212386	TATTTACT others(37): Show TATTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGATA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 NA19030.hp2 HG00639.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0003 a0001c0004t0003 a0001c0002t0003 a0001c0004t0003	a0001c0002t0003g0010 a0001c0004t0003g0067 a0001c0002t0003g0010 a0001c0004t0003g0067	2	148	0.0135	-44	c.212 others(65): Show c.2123-34279_2123-34236delTATCACAAAACACGAGAGTAAAAT CACAAAACATGAGAGTAAAT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKH_chr13_42043648_42247896	42207123	CTCCTTCC others(37): Show CTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00423.hp2 others(68): Show HG00099.hp1 HG00408.hp2 HG00423.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp2 HG00642.hp2 HG01074.hp2 HG01123.hp2 HG01257.hp2 HG01358.hp1 HG01517.hp2 HG01934.hp1 HG01975.hp1 HG01975.hp2 HG02055.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp2 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02723.hp2 HG02809.hp1 HG02896.hp2 HG02897.hp1 HG02976.hp2 HG03195.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03492.hp2 HG03834.hp2 HG04228.hp2 NA18747.hp1 NA18942.hp1 NA18948.hp1 NA18954.hp1 NA18957.hp1 NA18959.hp1 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18980.hp1 NA18982.hp1 NA18985.hp2 NA18991.hp2 NA18993.hp1 NA18994.hp1 NA18998.hp2 NA19007.hp2 NA19010.hp2 NA19011.hp2 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19064.hp2 NA19065.hp2 NA19074.hp1 NA19084.hp2 NA20905.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0008 a0011 a0013	a0001c0002 a0001c0004 a0001c0008 others(5): Show a0001c0002 a0001c0004 a0001c0008 a0002c0005 a0003c0007 a0008c0019 a0011c0028 a0013c0030	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(26): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0012 a0001c0002t0019 a0001c0002t0021 a0001c0002t0024 a0001c0002t0030 a0001c0002t0094 a0001c0002t0095 a0001c0002t0096 a0001c0002t0101 a0001c0004t0001 a0001c0004t0020 a0001c0004t0041 a0001c0004t0047 a0001c0004t0093 a0001c0004t0117 a0001c0008t0008 a0002c0005t0001 a0002c0005t0003 a0002c0005t0007 a0002c0005t0008 a0002c0005t0037 a0003c0007t0009 a0008c0019t0047 a0011c0028t0001 a0013c0030t0019	a0001c0002t0001g0027 a0001c0002t0001g0047 a0001c0002t0001g0072 others(67): Show a0001c0002t0001g0027 a0001c0002t0001g0047 a0001c0002t0001g0072 a0001c0002t0001g0079 a0001c0002t0001g0089 a0001c0002t0001g0108 a0001c0002t0001g0127 a0001c0002t0001g0129 a0001c0002t0001g0140 a0001c0002t0001g0144 a0001c0002t0001g0155 a0001c0002t0001g0158 a0001c0002t0001g0160 a0001c0002t0001g0180 a0001c0002t0001g0184 a0001c0002t0001g0251 a0001c0002t0001g0283 a0001c0002t0002g0019 a0001c0002t0004g0169 a0001c0002t0005g0228 a0001c0002t0012g0049 a0001c0002t0012g0073 a0001c0002t0012g0203 a0001c0002t0019g0126 a0001c0002t0019g0171 a0001c0002t0021g0125 a0001c0002t0024g0003 a0001c0002t0024g0004 a0001c0002t0024g0007 a0001c0002t0030g0006 a0001c0002t0030g0050 a0001c0002t0094g0103 a0001c0002t0095g0060 a0001c0002t0096g0306 a0001c0002t0101g0183 a0001c0004t0001g0008 a0001c0004t0020g0313 a0001c0004t0041g0165 a0001c0004t0047g0097 a0001c0004t0093g0212 a0001c0004t0117g0013 a0001c0008t0008g0022 a0002c0005t0001g0105 a0002c0005t0001g0106 a0002c0005t0001g0114 a0002c0005t0001g0117 a0002c0005t0001g0137 a0002c0005t0001g0192 a0002c0005t0001g0270 a0002c0005t0001g0271 a0002c0005t0001g0274 a0002c0005t0001g0291 a0002c0005t0003g0116 a0002c0005t0003g0118 a0002c0005t0007g0045 a0002c0005t0007g0099 a0002c0005t0007g0123 a0002c0005t0007g0128 a0002c0005t0007g0134 a0002c0005t0007g0136 a0002c0005t0008g0290 a0002c0005t0037g0292 a0003c0007t0009g0001 a0003c0007t0009g0244 a0003c0007t0009g0245 a0003c0007t0009g0246 a0003c0007t0009g0248 a0008c0019t0047g0100 a0011c0028t0001g0054 a0013c0030t0019g0088	71	316	0.2247	-44	c.260 others(63): Show c.2601+1008_2601+1051delCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTC	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	21/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKK_chrX_50360409_50475825	50447339	TATATTAT others(37): Show TATATTATATATATATATAATATATATATATTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG00738.hp1 others(41): Show HG00099.hp2 HG00639.hp1 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01256.hp1 HG01257.hp2 HG01433.hp1 HG01928.hp1 HG01943.hp1 HG01978.hp1 HG01981.hp2 HG02004.hp2 HG02083.hp1 HG02165.hp1 HG02683.hp1 HG02717.hp1 HG02738.hp1 HG02922.hp2 HG03516.hp1 HG04199.hp1 NA18612.hp1 NA18941.hp1 NA18963.hp2 NA18972.hp1 NA18974.hp1 NA18982.hp1 NA18984.hp1 NA18986.hp1 NA18987.hp2 NA18995.hp1 NA19000.hp1 NA19003.hp1 NA19009.hp1 NA19010.hp1 NA19066.hp1 NA19079.hp1 NA19090.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0001c0009 others(5): Show a0001c0002 a0001c0003 a0001c0009 a0001c0014 a0001c0015 a0001c0022 a0002c0004 a0003c0006	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(7): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0003t0001 a0001c0009t0001 a0001c0014t0001 a0001c0015t0001 a0001c0022t0002 a0002c0004t0001 a0003c0006t0003	a0001c0002t0001g0015 a0001c0002t0001g0034 a0001c0002t0001g0091 others(36): Show a0001c0002t0001g0015 a0001c0002t0001g0034 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0124 a0001c0002t0001g0131 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0195 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0211 a0001c0002t0002g0193 a0001c0002t0004g0222 a0001c0003t0001g0006 a0001c0009t0001g0170 a0001c0014t0001g0194 a0001c0015t0001g0026 a0001c0022t0002g0235 a0002c0004t0001g0007 a0002c0004t0001g0008 a0002c0004t0001g0009 a0002c0004t0001g0128 a0002c0004t0001g0129 a0002c0004t0001g0130 a0002c0004t0001g0172 a0002c0004t0001g0175 a0002c0004t0001g0176 a0002c0004t0001g0184 a0002c0004t0001g0185 a0002c0004t0001g0186 a0002c0004t0001g0188 a0002c0004t0001g0190 a0002c0004t0001g0217 a0002c0004t0001g0219 a0002c0004t0001g0220 a0003c0006t0003g0010	44	248	0.1774	-44	c.645 others(63): Show c.645+22651_645+22694delTATATATATATATAATATATATATAT TATATATATATATAATAT	DGKK	ENSG00000274588.2	transcript	ENST00000611977.2	protein_coding	1/27			chrX	TogoVar
DGKK_chrX_50360409_50475825	50447365	TATATTAT others(37): Show TATATTATATATATATATAATATATATATATTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0145 a0001c0017t0001g0145	1	248	0.0040	-44	c.645 others(63): Show c.645+22625_645+22668delTATATATATATATAATATATATATAT TATATATATATATAATAT	DGKK	ENSG00000274588.2	transcript	ENST00000611977.2	protein_coding	1/27			chrX	TogoVar
DHRS9_chr2_169064563_169101167	169079971	GAGAGAGA others(37): Show GAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0163 a0001c0002t0002g0163	1	398	0.0025	-44	c.-59 others(61): Show c.-59-1548_-59-1505delGAGAGAGAGAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGA	DHRS9	ENSG00000073737.17	transcript	ENST00000674881.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
DHRSX_chrX_2214506_2505976	2223996	GTTCCTGC others(37): Show GTTCCTGCTGCGCAGAAATGAGCATTTACACCTCACGCTGGTGCC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0008 a0002c0002t0003g0008	1	50	0.0200	-44	c.805 others(61): Show c.805-2811_805-2768delGGCACCAGCGTGAGGTGTAAATGCTCAT TTCTGCGCAGCAGGAA	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	6/6			chrX	TogoVar
DHX35_chr20_38957344_39044721	39043001	AGGGAGGC others(37): Show AGGGAGGCTGGGAGGTTCACAAGGGAGGGGTGGTGCAGGCACAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	290	0.0035	-44	c.44 others(55): Show c.4459_*4502delGGGAGGCTGGGAGGTTCACAAGGGAGGGGTGGTG CAGGCACAGG	DHX35	ENSG00000101452.15	transcript	ENST00000252011.8	protein_coding		3281		chr20	TogoVar
DHX36_chr3_154267546_154329487	154310790	AAAAAAAA others(37): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0239 a0001c0001t0002g0239	1	366	0.0027	-44	c.642 others(59): Show c.642+802_642+845delATATATATATATATATATATATATATATTT TTTTTTTTTTTTTT	DHX36	ENSG00000174953.14	transcript	ENST00000496811.6	protein_coding	4/24			chr3	TogoVar
DIDO1_chr20_62872743_62931505	62922209	TACATATA others(37): Show TACATATATATACACACACACACATATATATATATACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0167 a0002c0002t0001g0167	1	320	0.0031	-44	c.-20 others(63): Show c.-200+4186_-200+4229delGTGTGTGTGTATATATATATATGTGT GTGTGTGTATATATATGT	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding	1/15			chr20	TogoVar
DIP2B_chr12_50499985_50753657	50579642	AAAATATA others(37): Show AAAATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA18957.hp2 NA19086.hp1 HG02809.hp2 NA18957.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0036 a0001c0001t0001 a0001c0001t0036	a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0036g0001 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0036g0001	3	284	0.0106	-44	c.101 others(63): Show c.101-46332_101-46289delAATATATATATATATATATATATATA TATATATATATATATATA	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50579644	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01928.hp2 HG01934.hp1 others(9): Show HG00738.hp1 HG01928.hp2 HG01934.hp1 HG01978.hp1 HG01993.hp2 HG02027.hp2 HG02148.hp1 HG02293.hp1 HG02523.hp2 NA18947.hp1 NA19060.hp2 NA19064.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0019 a0001c0003t0002g0024 a0001c0003t0002g0028 others(9): Show a0001c0003t0002g0019 a0001c0003t0002g0024 a0001c0003t0002g0028 a0001c0003t0002g0053 a0001c0003t0002g0056 a0001c0003t0002g0063 a0001c0003t0002g0067 a0001c0003t0002g0068 a0001c0003t0002g0070 a0001c0003t0002g0071 a0001c0003t0002g0073 a0001c0003t0002g0074	12	284	0.0423	-44	c.101 others(63): Show c.101-46300_101-46257delTATATATATATATATATATATATATA TATATATATATATATATA	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	376242	GACCTCGG others(37): Show GACCTCGGCCCCCGACAGAGCCGGCAGGGAGAAGGACCCAGGCCC	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	88	0.0114	-44	c.199 others(63): Show c.1991+6361_1991+6404delGGGCCTGGGTCCTTCTCCCTGCCGGC TCTGTCGGGGGCCGAGGT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	17/36			chr10	TogoVar
DIP2C_chr10_269201_694668	376258	AGAGCCGG others(37): Show AGAGCCGGCAGGGAGAAGGACCCAGGCCCACCTCGGCCCCCGACG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01099.hp2 HG01975.hp1 others(5): Show HG01081.hp2 HG01099.hp2 HG01975.hp1 HG01981.hp1 HG02004.hp1 NA19007.hp2 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0004 a0001c0006 a0001c0007 a0001c0004 a0001c0006 a0001c0007	a0001c0004t0001 a0001c0006t0001 a0001c0006t0002 others(1): Show a0001c0004t0001 a0001c0006t0001 a0001c0006t0002 a0001c0007t0002	a0001c0004t0001g0068 a0001c0004t0001g0086 a0001c0006t0001g0045 others(5): Show a0001c0004t0001g0068 a0001c0004t0001g0086 a0001c0006t0001g0045 a0001c0006t0002g0038 a0001c0006t0002g0046 a0001c0006t0002g0058 a0001c0007t0002g0076 a0001c0007t0002g0077	8	88	0.0909	-44	c.199 others(63): Show c.1991+6345_1991+6388delCGTCGGGGGCCGAGGTGGGCCTGGGT CCTTCTCCCTGCCGGCTC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	17/36			chr10	TogoVar
DIP2C_chr10_269201_694668	429382	CCCCCCCG others(37): Show CCCCCCCGGACCCTGGCTGCCTCCCCCCCCGGACCCTGGCTGCCT	C C	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0080 a0001c0002t0001g0080	1	88	0.0114	-44	c.395 others(61): Show c.395-6393_395-6350delAGGCAGCCAGGGTCCGGGGGGGGAGGCA GCCAGGGTCCGGGGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	4/36			chr10	TogoVar
DIP2C_chr10_269201_694668	473189	TCAAAACA others(37): Show TCAAAACATTGATGTGAATCCACCTGTCACATATTGATTACATTC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0059 a0001c0002t0003g0059	1	88	0.0114	-44	c.158 others(59): Show c.158-684_158-641delGAATGTAATCAATATGTGACAGGTGGATTC ACATCAATGTTTTG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DIP2C_chr10_269201_694668	678634	TGTCCATG others(37): Show TGTCCATGCTCCCCGCACCTGTCCTCCCTGTGCCCAGCTCCCCAC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp1 HG00609.hp2 others(58): Show HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01258.hp2 HG01515.hp1 HG01515.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp2 HG02165.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02602.hp1 HG02602.hp2 HG02647.hp2 HG02922.hp1 HG03225.hp2 HG03579.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 NA18747.hp1 NA18906.hp2 NA18962.hp2 NA18970.hp1 NA18970.hp2 NA19007.hp1 NA19007.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19081.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0009 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0015 a0001c0017 a0001c0020 a0001c0021 a0001c0022 a0001c0023	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(20): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0002 a0001c0004t0001 a0001c0004t0003 a0001c0006t0001 a0001c0006t0002 a0001c0007t0002 a0001c0007t0007 a0001c0009t0003 a0001c0011t0003 a0001c0012t0002 a0001c0013t0002 a0001c0014t0001 a0001c0015t0002 a0001c0017t0002 a0001c0020t0008 a0001c0021t0002 a0001c0022t0003 a0001c0023t0003	a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 others(58): Show a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0003g0070 a0001c0001t0003g0075 a0001c0001t0003g0085 a0001c0002t0001g0031 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0061 a0001c0002t0001g0066 a0001c0002t0001g0080 a0001c0002t0002g0055 a0001c0002t0002g0067 a0001c0002t0003g0029 a0001c0002t0003g0030 a0001c0002t0003g0036 a0001c0002t0003g0042 a0001c0002t0003g0043 a0001c0002t0003g0047 a0001c0002t0003g0059 a0001c0002t0003g0063 a0001c0003t0002g0032 a0001c0003t0002g0037 a0001c0003t0002g0040 a0001c0003t0002g0053 a0001c0003t0002g0054 a0001c0003t0002g0062 a0001c0003t0002g0065 a0001c0003t0002g0069 a0001c0004t0001g0041 a0001c0004t0001g0068 a0001c0004t0001g0084 a0001c0004t0003g0039 a0001c0004t0003g0078 a0001c0006t0001g0045 a0001c0006t0002g0038 a0001c0006t0002g0046 a0001c0006t0002g0058 a0001c0007t0002g0076 a0001c0007t0002g0077 a0001c0007t0007g0060 a0001c0009t0003g0003 a0001c0011t0003g0088 a0001c0012t0002g0052 a0001c0013t0002g0035 a0001c0014t0001g0044 a0001c0015t0002g0083 a0001c0017t0002g0064 a0001c0020t0008g0074 a0001c0021t0002g0081 a0001c0022t0003g0002 a0001c0023t0003g0071	61	88	0.6932	-44	c.85+ others(61): Show c.85+10816_85+10859delGTGGGGAGCTGGGCACAGGGAGGACAGG TGCGGGGAGCATGGAC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIPK2A_chr3_143966823_143997368	143978638	ATCTATAT others(37): Show ATCTATATATATATATATATATCTATATATAGATATATATATATC	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0228 a0001c0001t0009g0228	1	408	0.0025	-44	c.657 others(61): Show c.657+5651_657+5694delCTATATATATATATATATATCTATATAT AGATATATATATATCT	DIPK2A	ENSG00000181744.9	transcript	ENST00000315691.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
DIRAS1_chr19_2709567_2726372	2713166	CCCTCACT others(37): Show CCCTCACTTCCTACACCCATCGCCTCCTCCACCCTTCACCCCATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	412	0.0024	-44	c.40 others(55): Show c.4000_*4043delTATGGGGTGAAGGGTGGAGGAGGCGATGGGTGTA GGAAGTGAGG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		1400		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713187	GCCTCCTC others(37): Show GCCTCCTCCACCCTTCACCCCATACCTCACTTCCTACACCCATCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02723.hp2 HG03540.hp2 HG02647.hp1 HG02723.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	3	412	0.0073	-44	c.39 others(55): Show c.3979_*4022delTGATGGGTGTAGGAAGTGAGGTATGGGGTGAAGG GTGGAGGAGG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		1379		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713359	CATCACCT others(37): Show CATCACCTCCTCCACCCTTCATCCCATCCGTCACTGTCTACACCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02258.hp1 HG02622.hp1 others(8): Show HG02257.hp2 HG02258.hp1 HG02622.hp1 HG02818.hp1 HG02886.hp1 HG03130.hp1 HG03209.hp1 HG03225.hp1 HG03486.hp1 HG03516.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0019 others(2): Show a0001c0001t0004 a0001c0001t0010 a0001c0001t0019 a0001c0001t0023 a0001c0001t0033	a0001c0001t0004g0005 a0001c0001t0010g0010 a0001c0001t0019g0025 others(2): Show a0001c0001t0004g0005 a0001c0001t0010g0010 a0001c0001t0019g0025 a0001c0001t0023g0031 a0001c0001t0033g0047	11	412	0.0267	-44	c.38 others(55): Show c.3807_*3850delCGGTGTAGACAGTGACGGATGGGATGAAGGGTGG AGGAGGTGAT	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		1207		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713537	TCACCTCC others(37): Show TCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTCCACGCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02630.hp1 HG02723.hp2 others(2): Show HG02055.hp2 HG02630.hp1 HG02723.hp2 HG03139.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0027 a0001c0001t0003 a0001c0001t0008 a0001c0001t0027	a0001c0001t0003g0003 a0001c0001t0008g0019 a0001c0001t0027g0045 a0001c0001t0003g0003 a0001c0001t0008g0019 a0001c0001t0027g0045	5	412	0.0121	-44	c.36 others(55): Show c.3629_*3672delGTGCGTGGAGGAAGTGAGGGATGGGATGAAGGGT GGAGGAGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		1029		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713606	CCCTCACT others(37): Show CCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG02145.hp2 HG02559.hp1 others(10): Show HG01167.hp1 HG02145.hp2 HG02559.hp1 HG02559.hp2 HG02723.hp1 HG02886.hp2 HG03139.hp1 HG03209.hp2 HG03579.hp1 HG04199.hp2 NA18995.hp1 NA19010.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0009 a0001c0001t0032 others(2): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0032 a0001c0001t0041 a0001c0002t0001	a0001c0001t0003g0003 a0001c0001t0003g0012 a0001c0001t0009g0018 others(4): Show a0001c0001t0003g0003 a0001c0001t0003g0012 a0001c0001t0009g0018 a0001c0001t0009g0020 a0001c0001t0032g0077 a0001c0001t0041g0097 a0001c0002t0001g0002	13	412	0.0316	-44	c.35 others(55): Show c.3560_*3603delAATGGGATGAAGGGTGGAGGAGGTGACGGGTGTA GGAAGTGAGG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		960		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713757	CCACCTCC others(37): Show CCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	412	0.0024	-44	c.34 others(55): Show c.3409_*3452delACGGGTGTAGGAAGTGAGGGATGGGATGAAGGGT GGAGGAGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		809		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713889	TCACCTCC others(37): Show TCACCTCCTCCACCCTTCATCCCATTCCTCACTTCCTACACCCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG04115.hp2 HG02723.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0003 a0001c0001t0006g0065 a0001c0001t0003g0003 a0001c0001t0006g0065	2	412	0.0049	-44	c.32 others(55): Show c.3277_*3320delGTGGGTGTAGGAAGTGAGGAATGGGATGAAGGGT GGAGGAGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		677		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2714113	CTCCTCCA others(37): Show CTCCTCCACCCTTCACACCATCCCTCACTTCCTACACCCACCACT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG02015.hp2 NA18951.hp2 HG00423.hp2 HG02015.hp2 NA18951.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	3	412	0.0073	-44	c.30 others(55): Show c.3053_*3096delAGTGGTGGGTGTAGGAAGTGAGGGATGGTGTGAA GGGTGGAGGA	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		453		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2714197	CCACCTCC others(37): Show CCACCTCCTCCACCCTTCACCCCATCCCTCACTTCCTACACCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0022 a0001c0001t0005g0022	1	412	0.0024	-44	c.29 others(55): Show c.2969_*3012delACGGGTGTAGGAAGTGAGGGATGGGGTGAAGGGT GGAGGAGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		369		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2714260	TCCCATCC others(37): Show TCCCATCCCTCACTTCCTACACCCACCACCTTCTCAACCCTTCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG02015.hp2 HG04199.hp2 others(3): Show HG00423.hp2 HG02015.hp2 HG04199.hp2 NA18951.hp2 NA18987.hp1 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	6	412	0.0146	-44	c.29 others(55): Show c.2906_*2949delGTGAAGGGTTGAGAAGGTGGTGGGTGTAGGAAGT GAGGGATGGG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		306		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2714329	CCACCTCC others(37): Show CCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp1 HG02109.hp1 HG02615.hp1 others(2): Show HG02004.hp1 HG02109.hp1 HG02615.hp1 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0005g0071 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0005g0071	5	412	0.0121	-44	c.28 others(55): Show c.2837_*2880delATGGGTGTAGGAAGTGAGGGATGGGATGAAGGGT GGAGGAGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		237		chr19	TogoVar
DISC1_chr1_231621790_232046272	231762181	CTTCTTTT others(37): Show CTTCTTTTCTTTCTTTTCTTTTCTTTTCTTTTCTCTTCTTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02273.hp1 HG02922.hp2 others(3): Show HG02155.hp1 HG02273.hp1 HG02922.hp2 HG04115.hp2 NA18983.hp1 NA19000.hp1	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0006	a0002c0004 a0003c0007 a0004c0013 others(1): Show a0002c0004 a0003c0007 a0004c0013 a0006c0010	a0002c0004t0003 a0002c0004t0004 a0003c0007t0001 others(2): Show a0002c0004t0003 a0002c0004t0004 a0003c0007t0001 a0004c0013t0002 a0006c0010t0003	a0002c0004t0003g0026 a0002c0004t0003g0028 a0002c0004t0004g0004 others(3): Show a0002c0004t0003g0026 a0002c0004t0003g0028 a0002c0004t0004g0004 a0003c0007t0001g0031 a0004c0013t0002g0030 a0006c0010t0003g0027	6	40	0.1500	-44	c.126 others(63): Show c.1269-4947_1269-4904delCTTTTCTTTTCTTTTCTTTTCTCTTC TTTTCTTTTCTTTTCTTT	DISC1	ENSG00000162946.24	transcript	ENST00000439617.8	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
DLGAP1_chr18_3491032_4460307	3772342	CTCTCTCT others(37): Show CTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02622.hp1 HG02622.hp2 others(5): Show HG00099.hp1 HG02622.hp1 HG02622.hp2 HG02970.hp1 HG02970.hp2 HG03209.hp2 HG03669.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0002c0007	a0001c0001t0003 a0001c0002t0008 a0001c0003t0010 others(5): Show a0001c0001t0003 a0001c0002t0008 a0001c0003t0010 a0001c0003t0015 a0001c0004t0001 a0001c0004t0032 a0001c0005t0009 a0002c0007t0016	a0001c0001t0003g0059 a0001c0002t0008g0037 a0001c0003t0010g0040 others(5): Show a0001c0001t0003g0059 a0001c0002t0008g0037 a0001c0003t0010g0040 a0001c0003t0015g0078 a0001c0004t0001g0011 a0001c0004t0032g0065 a0001c0005t0009g0051 a0002c0007t0016g0066	8	80	0.1000	-44	c.117 others(65): Show c.1173-29874_1173-29831delAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAGAGA	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	5/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	3833130	ATTCCTTC others(37): Show ATTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp2 HG02486.hp2 others(10): Show HG00140.hp1 HG00639.hp2 HG02486.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03130.hp2 HG03453.hp1 HG03453.hp2 HG03704.hp1 NA19030.hp1 NA19043.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006	a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 others(9): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0013 a0001c0001t0038 a0001c0001t0041 a0001c0002t0008 a0001c0002t0040 a0001c0003t0005 a0001c0004t0001 a0001c0004t0002 a0001c0006t0013	a0001c0001t0002g0017 a0001c0001t0002g0047 a0001c0001t0004g0001 others(10): Show a0001c0001t0002g0017 a0001c0001t0002g0047 a0001c0001t0004g0001 a0001c0001t0010g0029 a0001c0001t0013g0060 a0001c0001t0038g0075 a0001c0001t0041g0079 a0001c0002t0008g0037 a0001c0002t0040g0055 a0001c0003t0005g0048 a0001c0004t0001g0011 a0001c0004t0002g0035 a0001c0006t0013g0073	13	80	0.1625	-44	c.958 others(63): Show c.958-18901_958-18858delGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAA	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	4/12			chr18	TogoVar
DLGAP2_chr8_732628_1713476	1100161	GACAGCGT others(37): Show GACAGCGTGTGTAGGGAAAACCTTTGTCCAGCATGTCCACAGTGT	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03486.hp1 HG02818.hp2 HG03486.hp1	a0002 a0002	a0002c0001 a0002c0006 a0002c0001 a0002c0006	a0002c0001t0005 a0002c0006t0021 a0002c0001t0005 a0002c0006t0021	a0002c0001t0005g0035 a0002c0006t0021g0014 a0002c0001t0005g0035 a0002c0006t0021g0014	2	40	0.0500	-44	c.74- others(63): Show c.74-158646_74-158603delTACAGCGTGTGTAGGGAAAACCTTTG TCCAGCATGTCCACAGTG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1100249	GACAGCGT others(37): Show GACAGCGTGTGTAGGGAAAACCTTTGTCCAGCATGTCCACAGTGT	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0009 a0002c0004t0003g0009	1	40	0.0250	-44	c.74- others(63): Show c.74-158512_74-158469delCAGCGTGTGTAGGGAAAACCTTTGTC CAGCATGTCCACAGTGTA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1297482	CGAGACAG others(37): Show CGAGACAGGGAGGAGAAACGTGGCAGGCATGAACAGACACCACGT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp2 HG03492.hp2 others(2): Show HG02922.hp1 HG02922.hp2 HG03492.hp2 NA18906.hp1 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0002 a0002c0001 a0003c0005 others(1): Show a0001c0002 a0002c0001 a0003c0005 a0004c0008	a0001c0002t0002 a0001c0002t0006 a0002c0001t0019 others(2): Show a0001c0002t0002 a0001c0002t0006 a0002c0001t0019 a0003c0005t0002 a0004c0008t0016	a0001c0002t0002g0021 a0001c0002t0006g0011 a0002c0001t0019g0030 others(2): Show a0001c0002t0002g0021 a0001c0002t0006g0011 a0002c0001t0019g0030 a0003c0005t0002g0031 a0004c0008t0016g0029	5	40	0.1250	-44	c.106 others(63): Show c.106+38715_106+38758delATGAACAGACACCACGTGAGACAGGG AGGAGAAACGTGGCAGGC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1297816	GTGAACAG others(37): Show GTGAACAGACACCACGTGAGACAGGGAGGAGAAACGTGGCAGGCA	G G	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02818.hp2 HG02074.hp1 HG02818.hp2	a0002 a0002	a0002c0001 a0002c0006 a0002c0001 a0002c0006	a0002c0001t0020 a0002c0006t0021 a0002c0001t0020 a0002c0006t0021	a0002c0001t0020g0024 a0002c0006t0021g0014 a0002c0001t0020g0024 a0002c0006t0021g0014	2	40	0.0500	-44	c.106 others(63): Show c.106+39021_106+39064delATGAACAGACACCACGTGAGACAGGG AGGAGAAACGTGGCAGGC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMD_chrX_31114222_33216549	32042094	TATACATA others(37): Show TATACATATATACATACATATACACACATATGTATACATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03225.hp1 HG02976.hp2 HG03225.hp1	a0003 a0005 a0003 a0005	a0003c0014 a0005c0057 a0003c0014 a0005c0057	a0003c0014t0010 a0005c0057t0001 a0003c0014t0010 a0005c0057t0001	a0003c0014t0010g0015 a0005c0057t0001g0109 a0003c0014t0010g0015 a0005c0057t0001g0109	2	126	0.0159	-44	c.643 others(65): Show c.6439-73624_6439-73581delGTATATATGTATACATATGTGTGT ATATGTATGTATATATGTAT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	44/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32452445	GGAAAGGA others(37): Show GGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0014 a0014	a0014c0051 a0014c0051	a0014c0051t0011 a0014c0051t0011	a0014c0051t0011g0121 a0014c0051t0011g0121	1	126	0.0079	-44	c.360 others(63): Show c.3603+2173_3603+2216delTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	26/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32783258	ATACACAT others(37): Show ATACACATATATGGTATATATACACCATATATACACACATATATG	A A	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	126	0.0079	-44	c.649 others(63): Show c.649+26191_649+26234delCATATATGTGTGTATATATGGTGTAT ATATACCATATATGTGTA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	7/78			chrX	TogoVar
DNAAF6_chrX_107201611_107249247	107204749	TTTAAATA others(37): Show TTTAAATAAATTTTAAATAAATTATTTAAATAAATTTTAAATAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00438.hp1 others(62): Show HG00140.hp1 HG00408.hp1 HG00438.hp1 HG00642.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01175.hp2 HG01258.hp1 HG01261.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02135.hp1 HG02148.hp2 HG02165.hp1 HG02280.hp1 HG02451.hp2 HG02602.hp1 HG03490.hp1 HG03669.hp2 HG04184.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18940.hp1 NA18941.hp1 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18959.hp1 NA18962.hp1 NA18964.hp1 NA18970.hp1 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18983.hp1 NA18985.hp1 NA18987.hp1 NA18991.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA19000.hp1 NA19001.hp1 NA19002.hp2 NA19005.hp1 NA19011.hp1 NA19030.hp2 NA19054.hp1 NA19059.hp2 NA19062.hp1 NA19072.hp1 NA19074.hp1 NA19080.hp2 NA19083.hp1 NA19085.hp1 NA19091.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0138 others(49): Show a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0138 a0001c0001t0001g0207 a0001c0001t0001g0219 a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0174 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0180 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0201 a0001c0001t0002g0222 a0001c0001t0002g0223	65	296	0.2196	-44	c.-19 others(55): Show c.-1944_-1901delTTAAATAAATTTTAAATAAATTATTTAAATAAAT TTTAAATAAA	DNAAF6	ENSG00000080572.14	transcript	ENST00000372453.8	protein_coding		1861		chrX	TogoVar
DNAH14_chr1_224924675_225404286	225335850	TATGTACA others(37): Show TATGTACATATATGTACATACACATATACATATATGTACATATAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp2 HG00733.hp1 others(23): Show HG00639.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01070.hp2 HG01106.hp2 HG01257.hp2 HG01358.hp1 HG02004.hp2 HG02015.hp1 HG02273.hp2 HG02683.hp1 HG02896.hp1 HG03017.hp1 HG03130.hp2 HG03834.hp2 HG03942.hp1 NA18955.hp2 NA18966.hp1 NA18984.hp1 NA19070.hp1 NA19079.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0004 a0022 a0024 others(11): Show a0004 a0022 a0024 a0033 a0039 a0041 a0042 a0061 a0068 a0076 a0081 a0098 a0110 a0112	a0004c0005 a0004c0031 a0004c0041 others(14): Show a0004c0005 a0004c0031 a0004c0041 a0022c0022 a0024c0100 a0024c0101 a0033c0033 a0039c0067 a0041c0068 a0042c0103 a0061c0117 a0068c0102 a0076c0061 a0081c0047 a0098c0116 a0110c0104 a0112c0084	a0004c0005t0001 a0004c0031t0001 a0004c0041t0001 others(14): Show a0004c0005t0001 a0004c0031t0001 a0004c0041t0001 a0022c0022t0001 a0024c0100t0001 a0024c0101t0001 a0033c0033t0001 a0039c0067t0001 a0041c0068t0001 a0042c0103t0001 a0061c0117t0001 a0068c0102t0003 a0076c0061t0001 a0081c0047t0001 a0098c0116t0001 a0110c0104t0001 a0112c0084t0001	a0004c0005t0001g0116 a0004c0005t0001g0133 a0004c0005t0001g0134 others(23): Show a0004c0005t0001g0116 a0004c0005t0001g0133 a0004c0005t0001g0134 a0004c0005t0001g0150 a0004c0005t0001g0204 a0004c0005t0001g0205 a0004c0005t0001g0238 a0004c0031t0001g0145 a0004c0031t0001g0146 a0004c0041t0001g0125 a0022c0022t0001g0038 a0022c0022t0001g0064 a0024c0100t0001g0185 a0024c0101t0001g0203 a0033c0033t0001g0161 a0033c0033t0001g0162 a0039c0067t0001g0046 a0041c0068t0001g0047 a0042c0103t0001g0206 a0061c0117t0001g0191 a0068c0102t0003g0177 a0076c0061t0001g0024 a0081c0047t0001g0233 a0098c0116t0001g0190 a0110c0104t0001g0131 a0112c0084t0001g0207	26	240	0.1083	-44	c.100 others(65): Show c.10081-1413_10081-1370delGTACATATATGTACATACACATAT ACATATATGTACATATACAT	DNAH14	ENSG00000185842.16	transcript	ENST00000682510.1	protein_coding	66/85		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNAH17_chr17_78418697_78582396	78540879	ATGGGTGG others(37): Show ATGGGTGGATGGATGGGTGGGTGGGTGGGTGGGTGGGTGGATGGG	A A	intron_variant intron_variant	MODIFIER	HG02071.hp2 NA18971.hp2 HG02071.hp2 NA18971.hp2	a0006 a0006	a0006c0004 a0006c0004	a0006c0004t0001 a0006c0004t0001	a0006c0004t0001g0203 a0006c0004t0001g0204 a0006c0004t0001g0203 a0006c0004t0001g0204	2	252	0.0079	-44	c.253 others(63): Show c.2533-1043_2533-1000delCCCATCCACCCACCCACCCACCCACC CACCCATCCATCCACCCA	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	17/80			chr17	TogoVar
DNAH17_chr17_78418697_78582396	78558447	CTGACATC others(37): Show CTGACATCACCCTCATGGGTGGATGACATCACCCTCATGGGTGGA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02486.hp1 HG02630.hp1 others(4): Show HG02145.hp1 HG02486.hp1 HG02630.hp1 HG02723.hp2 HG02970.hp1 HG03209.hp2 HG03225.hp1	a0010 a0066 a0073 others(3): Show a0010 a0066 a0073 a0078 a0082 a0099	a0010c0007 a0066c0205 a0073c0097 others(3): Show a0010c0007 a0066c0205 a0073c0097 a0078c0209 a0082c0098 a0099c0072	a0010c0007t0002 a0066c0205t0001 a0073c0097t0001 others(3): Show a0010c0007t0002 a0066c0205t0001 a0073c0097t0001 a0078c0209t0001 a0082c0098t0001 a0099c0072t0001	a0010c0007t0002g0045 a0010c0007t0002g0130 a0066c0205t0001g0145 others(4): Show a0010c0007t0002g0045 a0010c0007t0002g0130 a0066c0205t0001g0145 a0073c0097t0001g0105 a0078c0209t0001g0125 a0082c0098t0001g0104 a0099c0072t0001g0132	7	252	0.0278	-44	c.203 others(61): Show c.2032-237_2032-194delTCCACCCATGAGGGTGATGTCATCCACC CATGAGGGTGATGTCA	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	13/80			chr17	TogoVar
DNAI2_chr17_74269234_74319884	74301866	GGAAGGAA others(37): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA19010.hp1 NA19062.hp1 HG02523.hp2 NA19010.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0100 a0001c0001t0001g0107 a0001c0001t0001g0058 a0001c0001t0001g0100 a0001c0001t0001g0107	3	398	0.0075	-44	c.987 others(59): Show c.987+742_987+785delAGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAA	DNAI2	ENSG00000171595.14	transcript	ENST00000311014.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAI2_chr17_74269234_74319884	74302014	AGAAGGAA others(37): Show AGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	398	0.0025	-44	c.987 others(59): Show c.987+902_987+945delAGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAA	DNAI2	ENSG00000171595.14	transcript	ENST00000311014.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr17	TogoVar

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