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
RTL4_chrX_112078016_112462514	112082809	GAGAGAGA others(19): Show GAGAGAGAGAGAGAGAGAGAGAGAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02451.hp1 HG02486.hp1 others(3): Show HG02055.hp1 HG02451.hp1 HG02486.hp1 HG02630.hp2 HG02895.hp1 HG02976.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0002 a0001c0002t0004 a0001c0003t0003 others(1): Show a0001c0002t0002 a0001c0002t0004 a0001c0003t0003 a0002c0001t0001	a0001c0002t0002g0027 a0001c0002t0002g0032 a0001c0002t0004g0031 others(3): Show a0001c0002t0002g0027 a0001c0002t0002g0032 a0001c0002t0004g0031 a0001c0003t0003g0028 a0002c0001t0001g0026 a0002c0001t0001g0033	6	134	0.0448	-26	c.-87 others(35): Show c.-871_-846delAGAGAGAGAGAGAGAGAGAGAGAGAA	RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding		206		chrX	TogoVar
RTN1_chr14_59590983_59875776	59749252	ATATCTAT others(19): Show ATATCTATATATATCTATATATATATC	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 NA18522.hp1 HG02895.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0136 a0001c0001t0001g0078 a0001c0001t0001g0136	2	172	0.0116	-26	c.242 others(43): Show c.242-2797_242-2772delGATATATATATAGATATATATAGATA	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RTN1_chr14_59590983_59875776	59749294	ATATCTAT others(19): Show ATATCTATATATATCTATATATATATC	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp2 HG02257.hp1 others(1): Show HG02055.hp1 HG02145.hp2 HG02257.hp1 HG02280.hp2	a0001 a0003 a0001 a0003	a0001c0007 a0003c0004 a0001c0007 a0003c0004	a0001c0007t0005 a0003c0004t0001 a0001c0007t0005 a0003c0004t0001	a0001c0007t0005g0071 a0003c0004t0001g0040 a0003c0004t0001g0080 others(1): Show a0001c0007t0005g0071 a0003c0004t0001g0040 a0003c0004t0001g0080 a0003c0004t0001g0081	4	172	0.0233	-26	c.242 others(43): Show c.242-2839_242-2814delGATATATATATAGATATATATAGATA	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RTN2_chr19_45480294_45502047	45497698	GTATATAT others(19): Show GTATATATATATATATATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02615.hp1 HG02630.hp1 others(7): Show HG02027.hp2 HG02615.hp1 HG02630.hp1 HG02970.hp1 HG03453.hp1 HG03516.hp2 NA18942.hp1 NA18983.hp1 NA18992.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0041 a0001c0001t0001g0109 a0001c0001t0001g0139	10	432	0.0232	-26	c.-89 others(35): Show c.-899_-874delTATATATATATATATATATATATATA	RTN2	ENSG00000125744.12	transcript	ENST00000245923.9	protein_coding		652		chr19	TogoVar
RTN4RL1_chr17_1929677_2030334	2005782	CTTTTATT others(19): Show CTTTTATTTTTCTTTCTTCCTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01074.hp2 HG01123.hp2 others(13): Show HG00642.hp1 HG01074.hp2 HG01123.hp2 HG01175.hp2 HG01192.hp1 HG01256.hp2 HG01433.hp1 HG01928.hp2 HG01952.hp2 HG01978.hp1 HG01981.hp2 HG03225.hp2 HG03669.hp1 HG03704.hp1 NA19030.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0022 a0001c0001t0023 others(9): Show a0001c0001t0005 a0001c0001t0022 a0001c0001t0023 a0001c0001t0045 a0001c0001t0052 a0001c0001t0053 a0001c0001t0087 a0001c0001t0126 a0001c0001t0127 a0001c0002t0007 a0001c0002t0036 a0001c0002t0071	a0001c0001t0005g0063 a0001c0001t0022g0242 a0001c0001t0023g0087 others(13): Show a0001c0001t0005g0063 a0001c0001t0022g0242 a0001c0001t0023g0087 a0001c0001t0023g0267 a0001c0001t0045g0222 a0001c0001t0052g0205 a0001c0001t0053g0066 a0001c0001t0053g0176 a0001c0001t0087g0031 a0001c0001t0126g0179 a0001c0001t0127g0177 a0001c0002t0007g0008 a0001c0002t0007g0116 a0001c0002t0007g0178 a0001c0002t0036g0264 a0001c0002t0071g0117	16	384	0.0417	-26	c.13+ others(43): Show c.13+19045_13+19070delAAAAAAAGGAAGAAAGAAAAATAAAA	RTN4RL1	ENSG00000185924.7	transcript	ENST00000331238.7	protein_coding	1/1			chr17	TogoVar
RUBCNL_chr13_46329681_46392252	46362923	CATATATA others(19): Show CATATATATATATATAGATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA18954.hp1 NA19083.hp2 HG03130.hp1 NA18954.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0068 a0001c0001t0069 a0001c0001t0004 a0001c0001t0068 a0001c0001t0069	a0001c0001t0004g0201 a0001c0001t0068g0200 a0001c0001t0069g0215 a0001c0001t0004g0201 a0001c0001t0068g0200 a0001c0001t0069g0215	3	356	0.0084	-26	c.925 others(41): Show c.925+166_925+191delATATATATATCTATATATATATATAT	RUBCNL	ENSG00000102445.20	transcript	ENST00000429979.6	protein_coding	6/14			chr13	TogoVar
RUNDC3B_chr7_87623398_87837296	87824159	GCAATTAG others(19): Show GCAATTAGTCATAAGACAGAAACATTT	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18952.hp1 NA18963.hp1 others(9): Show HG00423.hp1 NA18952.hp1 NA18963.hp1 NA18970.hp2 NA18988.hp2 NA18990.hp2 NA18992.hp2 NA18998.hp1 NA19060.hp2 NA19062.hp1 NA19082.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0014 a0001c0001t0023 others(3): Show a0001c0001t0012 a0001c0001t0014 a0001c0001t0023 a0001c0001t0027 a0001c0001t0039 a0001c0001t0051	a0001c0001t0012g0150 a0001c0001t0012g0151 a0001c0001t0012g0152 others(9): Show a0001c0001t0012g0150 a0001c0001t0012g0151 a0001c0001t0012g0152 a0001c0001t0014g0153 a0001c0001t0014g0155 a0001c0001t0014g0157 a0001c0001t0023g0039 a0001c0001t0023g0159 a0001c0001t0027g0037 a0001c0001t0027g0154 a0001c0001t0039g0158 a0001c0001t0051g0156	12	202	0.0594	-26	c.122 others(45): Show c.1226-5722_1226-5697delTTAGTCATAAGACAGAAACATTTCAA	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
RUNX1_chr21_34782801_35054302	34993767	GCACACAC others(19): Show GCACACACACAGACACACACACACAGA	G G	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0134 a0001c0006t0006g0134	1	170	0.0059	-26	c.58+ others(43): Show c.58+55049_58+55074delTCTGTGTGTGTGTGTCTGTGTGTGTG	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RXRA_chr9_134321455_134445585	134441412	ATGCACAC others(19): Show ATGCACACCCATGCAGAACTGCTCCCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0087 a0001c0001t0008g0087	1	232	0.0043	-26	c.47 others(37): Show c.4799_*4824delTGCACACCCATGCAGAACTGCTCCCG	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding		828		chr9	TogoVar
RYR2_chr1_237037184_237838988	237208936	GTATATAT others(19): Show GTATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0060 a0001c0003t0004g0060	1	100	0.0100	-26	c.49- others(43): Show c.49-61537_49-61512delATATATATATATATATATATATATAT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237350590	AAAAAAAA others(19): Show AAAAAAAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02922.hp2 HG03516.hp1 HG02055.hp1 HG02922.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0019 a0001c0001 a0001c0007 a0001c0019	a0001c0001t0001 a0001c0007t0016 a0001c0019t0022 a0001c0001t0001 a0001c0007t0016 a0001c0019t0022	a0001c0001t0001g0099 a0001c0007t0016g0042 a0001c0019t0022g0035 a0001c0001t0001g0099 a0001c0007t0016g0042 a0001c0019t0022g0035	3	100	0.0300	-26	c.274 others(43): Show c.274-5373_274-5348delAAAAAAAAAAAATATATATATATATA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	3/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237380359	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01361.hp1 others(1): Show HG01168.hp1 HG01169.hp1 HG01361.hp1 HG02257.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0005 a0001c0023 others(1): Show a0001c0003 a0001c0005 a0001c0023 a0002c0012	a0001c0003t0005 a0001c0005t0034 a0001c0023t0003 others(1): Show a0001c0003t0005 a0001c0005t0034 a0001c0023t0003 a0002c0012t0002	a0001c0003t0005g0018 a0001c0005t0034g0028 a0001c0023t0003g0071 others(1): Show a0001c0003t0005g0018 a0001c0005t0034g0028 a0001c0023t0003g0071 a0002c0012t0002g0072	4	100	0.0400	-26	c.576 others(43): Show c.576+2962_576+2987delTATATATATATATATATATATATATA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	8/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237565133	TTCTTTCT others(19): Show TTCTTTCTTTTTCTTTCTTTCTTTCTC	T T	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0017 a0001c0002t0013g0017	1	100	0.0100	-26	c.321 others(45): Show c.3215-1432_3215-1407delCTTTCTTTTTCTTTCTTTCTTTCTCT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	27/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237795849	TGTATATG others(19): Show TGTATATGTATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG03516.hp1 HG01981.hp1 HG03516.hp1	a0001 a0001	a0001c0019 a0001c0029 a0001c0019 a0001c0029	a0001c0019t0022 a0001c0029t0008 a0001c0019t0022 a0001c0029t0008	a0001c0019t0022g0035 a0001c0029t0008g0090 a0001c0019t0022g0035 a0001c0029t0008g0090	2	100	0.0200	-26	c.139 others(45): Show c.13956+519_13956+544delGTATATGTATATATATATATATATAC	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	96/104			chr1	TogoVar
RYR3_chr15_33305967_33871102	33794043	CATATATA others(19): Show CATATATATAAATATATACATAAATAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02055.hp1 HG02486.hp1 others(11): Show HG01109.hp2 HG02055.hp1 HG02486.hp1 HG02896.hp2 HG02897.hp2 HG02976.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03579.hp1 HG03579.hp2 HG06807.hp1 NA18906.hp1 NA20129.hp2	a0001 a0002 a0005 others(6): Show a0001 a0002 a0005 a0011 a0021 a0029 a0039 a0044 a0045	a0001c0010 a0001c0047 a0001c0058 others(10): Show a0001c0010 a0001c0047 a0001c0058 a0002c0081 a0002c0087 a0002c0092 a0005c0008 a0011c0123 a0021c0117 a0029c0050 a0039c0023 a0044c0074 a0045c0045	a0001c0010t0001 a0001c0047t0001 a0001c0058t0002 others(10): Show a0001c0010t0001 a0001c0047t0001 a0001c0058t0002 a0002c0081t0002 a0002c0087t0001 a0002c0092t0002 a0005c0008t0001 a0011c0123t0002 a0021c0117t0004 a0029c0050t0003 a0039c0023t0004 a0044c0074t0002 a0045c0045t0002	a0001c0010t0001g0051 a0001c0010t0001g0142 a0001c0047t0001g0135 others(11): Show a0001c0010t0001g0051 a0001c0010t0001g0142 a0001c0047t0001g0135 a0001c0058t0002g0073 a0002c0081t0002g0023 a0002c0087t0001g0039 a0002c0092t0002g0144 a0005c0008t0001g0124 a0011c0123t0002g0055 a0021c0117t0004g0122 a0029c0050t0003g0131 a0039c0023t0004g0068 a0044c0074t0002g0148 a0045c0045t0002g0133	14	154	0.0909	-26	c.983 others(45): Show c.9830+5608_9830+5633delATAAATATATATAAATATATACATAA	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	67/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
S100A7A_chr1_153411520_153428222	153425059	TTTTTTAA others(19): Show TTTTTTAAATACTGTAAATGGAAGCAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	-26	c.57 others(37): Show c.5751_*5776delTTTTTAAATACTGTAAATGGAAGCAG	S100A7A	ENSG00000184330.12	transcript	ENST00000368729.9	protein_coding		1838		chr1	TogoVar
S100Z_chr5_76845014_76926650	76906999	TATATATA others(19): Show TATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG03834.hp1 NA18941.hp1 NA18944.hp2 others(5): Show HG03834.hp1 NA18941.hp1 NA18944.hp2 NA18957.hp2 NA18977.hp2 NA19054.hp1 NA19062.hp2 NA19063.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0001 a0002c0002t0003 a0002c0002t0020 others(1): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0020 a0002c0004t0003	a0002c0002t0001g0102 a0002c0002t0001g0292 a0002c0002t0001g0330 others(5): Show a0002c0002t0001g0102 a0002c0002t0001g0292 a0002c0002t0001g0330 a0002c0002t0003g0267 a0002c0002t0003g0298 a0002c0002t0003g0300 a0002c0002t0020g0339 a0002c0004t0003g0299	8	348	0.0230	-26	c.3- others(43): Show c.3-13706_*3-13681delTATATATATATATACATATATATATA	S100Z	ENSG00000171643.14	transcript	ENST00000317593.9	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
SAMD11_chr1_918923_949574	934541	GGGGAGGC others(19): Show GGGGAGGCTGCTCCGTTACAGGTGGGC	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0027 a0001c0004t0027	a0001c0004t0027g0362 a0001c0004t0027g0362	1	434	0.0023	-26	c.843 others(43): Show c.843-1227_843-1202delAGGCTGCTCCGTTACAGGTGGGCGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD12_chr8_118372984_118626963	118605765	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0034 a0001c0002t0001g0034	1	188	0.0053	-26	c.13+ others(43): Show c.13+16013_13+16038delATATATATATATATATATATATATAT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	1/3			chr8	TogoVar
SAMD4A_chr14_54562128_54798312	54576001	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02809.hp2 HG02886.hp2 others(1): Show HG01433.hp1 HG02809.hp2 HG02886.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0014 a0001c0001t0001 a0001c0001t0004 a0001c0001t0014	a0001c0001t0001g0057 a0001c0001t0004g0079 a0001c0001t0004g0080 others(1): Show a0001c0001t0001g0057 a0001c0001t0004g0079 a0001c0001t0004g0080 a0001c0001t0014g0102	4	262	0.0153	-26	c.196 others(43): Show c.196+7901_196+7926delTTTTTTTTTTTTTTTTTTTTTTTTTT	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54678433	TTGTGTGT others(19): Show TTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA18988.hp2 HG02965.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0012 a0001c0001t0007 a0001c0001t0012	a0001c0001t0007g0014 a0001c0001t0012g0227 a0001c0001t0007g0014 a0001c0001t0012g0227	2	262	0.0076	-26	c.197 others(45): Show c.197-23571_197-23546delGTGTGTGTGTGTGTGTGTGTGTGTGT	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54727166	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0067 a0001c0001t0004g0067	1	262	0.0038	-26	c.716 others(43): Show c.716-9842_716-9817delTTTTTTTTTTTTTTTTTTTTTTTTTT	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SARDH_chr9_133658560_133743352	133669308	ATCCTCCC others(19): Show ATCCTCCCTCACCCTCCCTCTCCCTCG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0070 a0001c0070	a0001c0070t0008 a0001c0070t0008	a0001c0070t0008g0055 a0001c0070t0008g0055	1	262	0.0038	-26	c.249 others(45): Show c.2495+1250_2495+1275delCGAGGGAGAGGGAGGGTGAGGGAGGA	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133671790	ACCAGGAT others(19): Show ACCAGGATTATCAGCTGGCCCTGGGTC	A A	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0003 a0001c0016t0003	a0001c0016t0003g0187 a0001c0016t0003g0187	1	262	0.0038	-26	c.216 others(42): Show c.2164-119_2164-94delGACCCAGGGCCAGCTGATAATCCTGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	17/20			chr9	TogoVar
SARS1_chr1_109208918_109243182	109222000	ATATATAT others(19): Show ATATATATATATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02559.hp1 HG02970.hp2 HG02109.hp1 HG02559.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0375 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0375	3	402	0.0075	-26	c.137 others(43): Show c.137-1976_137-1951delATATATATATTTTTTTTTTTTTTTTT	SARS1	ENSG00000031698.13	transcript	ENST00000234677.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SART1_chr11_65956734_65985137	65970911	TGAGGAGG others(19): Show TGAGGAGGGGGATGGTGGGATTCATGA	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01891.hp1 HG02074.hp2 others(28): Show HG00673.hp1 HG01891.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp2 HG02155.hp2 HG02273.hp2 HG03130.hp2 NA18906.hp2 NA18944.hp1 NA18949.hp1 NA18950.hp2 NA18969.hp2 NA18973.hp2 NA18975.hp1 NA18980.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18989.hp2 NA18999.hp2 NA19001.hp1 NA19005.hp1 NA19009.hp2 NA19030.hp1 NA19060.hp1 NA19075.hp2 NA19084.hp1 NA19089.hp2	a0001 a0003 a0011 others(3): Show a0001 a0003 a0011 a0013 a0014 a0016	a0001c0004 a0001c0007 a0003c0008 others(4): Show a0001c0004 a0001c0007 a0003c0008 a0011c0026 a0013c0019 a0014c0018 a0016c0022	a0001c0004t0002 a0001c0004t0014 a0001c0007t0002 others(5): Show a0001c0004t0002 a0001c0004t0014 a0001c0007t0002 a0003c0008t0002 a0011c0026t0002 a0013c0019t0002 a0014c0018t0002 a0016c0022t0002	a0001c0004t0002g0004 a0001c0004t0002g0018 a0001c0004t0002g0019 others(18): Show a0001c0004t0002g0004 a0001c0004t0002g0018 a0001c0004t0002g0019 a0001c0004t0002g0020 a0001c0004t0002g0043 a0001c0004t0002g0044 a0001c0004t0002g0049 a0001c0004t0002g0054 a0001c0004t0002g0055 a0001c0004t0002g0057 a0001c0004t0002g0070 a0001c0004t0014g0053 a0001c0007t0002g0017 a0001c0007t0002g0048 a0003c0008t0002g0050 a0003c0008t0002g0051 a0003c0008t0002g0052 a0011c0026t0002g0058 a0013c0019t0002g0020 a0014c0018t0002g0019 a0016c0022t0002g0056	31	384	0.0807	-26	c.157 others(45): Show c.1572+3092_1572+3117delAGGAGGGGGATGGTGGGATTCATGAG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SART1_chr11_65956734_65985137	65971242	TGAGGAGG others(19): Show TGAGGAGGGGGATGGTGGGATTCATGA	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02809.hp1 HG02922.hp2 HG01106.hp1 HG02809.hp1 HG02922.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0042 a0001c0005t0002g0260 a0001c0005t0002g0263 a0001c0005t0002g0042 a0001c0005t0002g0260 a0001c0005t0002g0263	3	384	0.0078	-26	c.157 others(45): Show c.1572+3423_1572+3448delAGGAGGGGGATGGTGGGATTCATGAG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SASH1_chr6_148337838_148557044	148387638	TTCTTTCT others(19): Show TTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0238 a0002c0002t0001g0238	1	322	0.0031	-26	c.157 others(43): Show c.157-2494_157-2469delCTTTCTTTCTTTCTTTCTTTCTTTCT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148486936	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00423.hp1 others(40): Show HG00280.hp1 HG00323.hp1 HG00423.hp1 HG00544.hp2 HG00597.hp1 HG01256.hp2 HG01258.hp1 HG01943.hp2 HG01981.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02071.hp2 HG02129.hp1 HG02135.hp1 HG02148.hp1 HG02155.hp2 HG03704.hp2 HG03942.hp2 NA18612.hp2 NA18747.hp2 NA18947.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18957.hp1 NA18959.hp1 NA18966.hp2 NA18969.hp1 NA18979.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18990.hp1 NA18993.hp2 NA18999.hp1 NA19004.hp1 NA19054.hp2 NA19058.hp2 NA19085.hp2 NA20300.hp2 NA20805.hp1 NA20905.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0011 a0012	a0001c0001 a0001c0009 a0001c0028 others(10): Show a0001c0001 a0001c0009 a0001c0028 a0001c0029 a0002c0002 a0002c0005 a0002c0032 a0002c0033 a0003c0006 a0003c0008 a0003c0018 a0011c0039 a0012c0027	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0009t0010 a0001c0028t0001 a0001c0029t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0002c0005t0001 a0002c0005t0006 a0002c0032t0033 a0002c0033t0001 a0003c0006t0002 a0003c0008t0003 a0003c0018t0004 a0011c0039t0001 a0012c0027t0001	a0001c0001t0001g0101 a0001c0001t0001g0191 a0001c0001t0001g0289 others(40): Show a0001c0001t0001g0101 a0001c0001t0001g0191 a0001c0001t0001g0289 a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0053 a0001c0001t0002g0108 a0001c0001t0002g0146 a0001c0001t0002g0149 a0001c0001t0002g0175 a0001c0001t0002g0296 a0001c0001t0010g0006 a0001c0009t0010g0206 a0001c0028t0001g0043 a0001c0029t0002g0024 a0002c0002t0001g0152 a0002c0002t0001g0187 a0002c0002t0002g0039 a0002c0002t0002g0141 a0002c0002t0003g0041 a0002c0002t0003g0051 a0002c0002t0003g0109 a0002c0002t0003g0190 a0002c0002t0003g0320 a0002c0002t0004g0019 a0002c0002t0004g0102 a0002c0002t0004g0130 a0002c0002t0004g0207 a0002c0002t0004g0208 a0002c0002t0006g0132 a0002c0005t0001g0028 a0002c0005t0006g0015 a0002c0005t0006g0129 a0002c0032t0033g0188 a0002c0033t0001g0048 a0003c0006t0002g0065 a0003c0006t0002g0076 a0003c0008t0003g0068 a0003c0008t0003g0083 a0003c0008t0003g0085 a0003c0018t0004g0067 a0011c0039t0001g0292 a0012c0027t0001g0115	43	322	0.1335	-26	c.628 others(41): Show c.628-645_628-620delATATATATATATATATATATATATAT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148537774	TTCTGTGT others(19): Show TTCTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0304 a0001c0001t0007g0304	1	322	0.0031	-26	c.209 others(45): Show c.2096-2667_2096-2642delCTGTGTGTGTGTGTGTGTGTGTGTGT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	16/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148537776	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03579.hp2 HG03927.hp2 others(1): Show HG02818.hp2 HG03579.hp2 HG03927.hp2 NA18981.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0002c0035 others(1): Show a0001c0001 a0002c0002 a0002c0035 a0004c0012	a0001c0001t0002 a0002c0002t0002 a0002c0035t0011 others(1): Show a0001c0001t0002 a0002c0002t0002 a0002c0035t0011 a0004c0012t0002	a0001c0001t0002g0202 a0002c0002t0002g0012 a0002c0035t0011g0119 others(1): Show a0001c0001t0002g0202 a0002c0002t0002g0012 a0002c0035t0011g0119 a0004c0012t0002g0088	4	322	0.0124	-26	c.209 others(45): Show c.2096-2636_2096-2611delTGTGTGTGTGTGTGTGTGTGTGTGTG	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	16/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASS6_chr1_100078570_100137930	100083910	CCCTTCCA others(19): Show CCCTTCCATAGTATTTACAATAAAGCT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01109.hp1 HG02257.hp1 HG03579.hp2 others(2): Show HG01109.hp1 HG02257.hp1 HG03579.hp2 NA19043.hp1 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0031 a0001c0003t0005g0238 a0001c0003t0005g0239 others(1): Show a0001c0003t0005g0031 a0001c0003t0005g0238 a0001c0003t0005g0239 a0001c0003t0005g0240	5	304	0.0165	-26	c.13 others(37): Show c.1392_*1417delAGCTTTATTGTAAATACTATGGAAGG	SASS6	ENSG00000156876.10	transcript	ENST00000287482.6	protein_coding	17/17	1392		chr1	TogoVar
SATB2_chr2_199264505_199462939	199386704	GCGCGCGC others(19): Show GCGCGCGCGCGCGCACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 NA19010.hp1 HG01261.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0252 a0001c0001t0001g0158 a0001c0001t0001g0252	2	254	0.0079	-26	c.347 others(43): Show c.347-4910_347-4885delTGTGTGTGTGTGTGCGCGCGCGCGCG	SATB2	ENSG00000119042.18	transcript	ENST00000417098.6	protein_coding	3/10			chr2	TogoVar
SATB2_chr2_199264505_199462939	199386708	GCGCGCGC others(19): Show GCGCGCGCGCACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0075 a0001c0001t0003g0075	1	254	0.0039	-26	c.347 others(43): Show c.347-4914_347-4889delTGTGTGTGTGTGTGTGTGCGCGCGCG	SATB2	ENSG00000119042.18	transcript	ENST00000417098.6	protein_coding	3/10			chr2	TogoVar
SATL1_chrX_85087284_85248779	85156813	TTATATAT others(19): Show TTATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01168.hp2 HG01169.hp2 others(11): Show HG00438.hp2 HG01168.hp2 HG01169.hp2 HG01943.hp1 HG01952.hp1 HG02698.hp1 HG02735.hp1 HG03579.hp1 HG03669.hp2 HG03688.hp1 HG04199.hp1 NA18940.hp1 NA18998.hp1 NA20300.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0001c0007 a0012c0008 a0001c0001 a0001c0007 a0012c0008	a0001c0001t0001 a0001c0007t0001 a0012c0008t0001 a0001c0001t0001 a0001c0007t0001 a0012c0008t0001	a0001c0001t0001g0080 a0001c0001t0001g0158 a0001c0001t0001g0166 others(11): Show a0001c0001t0001g0080 a0001c0001t0001g0158 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0007t0001g0196 a0012c0008t0001g0200	14	232	0.0603	-26	c.-31 others(47): Show c.-312-47559_-312-47534delTATATATATATATATATATATATA TA	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding	2/7			chrX	TogoVar
SBF2_chr11_9773668_10299219	10223399	TTATATAT others(19): Show TTATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01070.hp1 HG01071.hp2 others(10): Show HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01168.hp1 HG01169.hp1 HG02074.hp2 HG02683.hp2 HG03209.hp1 HG03688.hp1 HG03831.hp1 NA19002.hp2 NA19063.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 others(2): Show a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0005	a0001c0001t0002g0161 a0001c0003t0001g0160 a0001c0003t0001g0165 others(10): Show a0001c0001t0002g0161 a0001c0003t0001g0160 a0001c0003t0001g0165 a0001c0003t0002g0019 a0001c0003t0002g0154 a0001c0003t0002g0159 a0001c0003t0002g0163 a0001c0003t0002g0164 a0001c0003t0004g0155 a0001c0003t0004g0156 a0001c0003t0004g0157 a0001c0003t0004g0158 a0001c0003t0005g0162	13	224	0.0580	-26	c.56- others(43): Show c.56-29438_56-29413delTATATATATATATATATATATATATA	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SBK1_chr16_28287525_28328849	28322917	GCGCTCTC others(19): Show GCGCTCTCTCTCTCCCTCTCTCTCTCT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00558.hp2 HG01069.hp2 HG01071.hp2 others(40): Show HG00558.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01167.hp1 HG01192.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01361.hp2 HG01516.hp2 HG01517.hp1 HG01928.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02148.hp1 HG02165.hp1 HG02257.hp1 HG02273.hp1 HG02293.hp2 HG02723.hp1 HG03491.hp2 HG04115.hp1 HG04204.hp2 HG06807.hp1 NA18939.hp2 NA18950.hp2 NA18954.hp1 NA18959.hp2 NA18967.hp1 NA18990.hp2 NA19002.hp2 NA19009.hp2 NA19011.hp1 NA19043.hp1 NA19054.hp2 NA19055.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0008 a0001c0001t0016 others(6): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0125 a0001c0001t0170 a0001c0001t0198 a0001c0002t0016	a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0010 others(32): Show a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0010 a0001c0001t0002g0036 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0056 a0001c0001t0002g0059 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0175 a0001c0001t0008g0001 a0001c0001t0008g0011 a0001c0001t0008g0118 a0001c0001t0008g0129 a0001c0001t0008g0147 a0001c0001t0016g0113 a0001c0001t0016g0188 a0001c0001t0016g0301 a0001c0001t0019g0007 a0001c0001t0019g0035 a0001c0001t0019g0054 a0001c0001t0019g0082 a0001c0001t0020g0020 a0001c0001t0020g0046 a0001c0001t0020g0074 a0001c0001t0020g0075 a0001c0001t0125g0020 a0001c0001t0170g0105 a0001c0001t0198g0146 a0001c0002t0016g0094 a0001c0002t0016g0095	43	384	0.1120	-26	c.19 others(37): Show c.1998_*2023delGCTCTCTCTCTCCCTCTCTCTCTCTC	SBK1	ENSG00000188322.8	transcript	ENST00000341901.5	protein_coding	4/4	1998	INFO_REALIGN_3_PRIME	chr16	TogoVar
SBK1_chr16_28287525_28328849	28322919	GCTCTCTC others(19): Show GCTCTCTCTCTCCCTCTCTCTCTCTCT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02486.hp2 HG02622.hp2 NA18906.hp2 others(1): Show HG02486.hp2 HG02622.hp2 NA18906.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0138 a0001c0001t0165 a0001c0001t0051 a0001c0001t0138 a0001c0001t0165	a0001c0001t0051g0182 a0001c0001t0051g0224 a0001c0001t0138g0184 others(1): Show a0001c0001t0051g0182 a0001c0001t0051g0224 a0001c0001t0138g0184 a0001c0001t0165g0290	4	384	0.0104	-26	c.20 others(37): Show c.2010_*2035delCCTCTCTCTCTCTCTCTCTCTCTCTC	SBK1	ENSG00000188322.8	transcript	ENST00000341901.5	protein_coding	4/4	2010	INFO_REALIGN_3_PRIME	chr16	TogoVar
SBK2_chr19_55523611_55542133	55527816	ATGCACAC others(19): Show ATGCACACACTCACAATTGCACACACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0089 a0001c0001t0018g0089	1	434	0.0023	-26	c.18 others(37): Show c.1891_*1916delCGTGTGTGCAATTGTGAGTGTGTGCA	SBK2	ENSG00000187550.9	transcript	ENST00000413299.6	protein_coding		794		chr19	TogoVar
SBK2_chr19_55523611_55542133	55539951	GTGTGTGC others(19): Show GTGTGTGCGCGCGTGTGTGTGCATGCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0008 a0001c0001t0005g0008	1	434	0.0023	-26	c.-29 others(37): Show c.-2926_-2901delTGCATGCACACACACGCGCGCACACA	SBK2	ENSG00000187550.9	transcript	ENST00000413299.6	protein_coding		2819		chr19	TogoVar
SBNO2_chr19_1102638_1179268	1137292	GGGGGGAG others(19): Show GGGGGGAGGCTCGGGCCGGGGTGCGGT	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0001 a0003c0010t0001	a0003c0010t0001g0168 a0003c0010t0001g0168	1	203	0.0049	-26	c.280 others(43): Show c.280-9553_280-9528delACCGCACCCCGGCCCGAGCCTCCCCC	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	4/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1137319	GGGGGGAG others(19): Show GGGGGGAGGCTCGGGCCGGGGTGCGGT	G G	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0019 a0002c0003t0001g0019	1	203	0.0049	-26	c.280 others(43): Show c.280-9580_280-9555delACCGCACCCCGGCCCGAGCCTCCCCC	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	4/31			chr19	TogoVar
SBSN_chr19_35518367_35533311	35520356	CAATATAT others(19): Show CAATATATATATATACATACACATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 NA18962.hp2 NA18970.hp1 others(4): Show HG00544.hp1 NA18962.hp2 NA18970.hp1 NA18983.hp2 NA18990.hp2 NA19004.hp1 NA19012.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	7	450	0.0156	-26	c.31 others(37): Show c.3128_*3153delTATATGTGTATGTATATATATATATT	SBSN	ENSG00000189001.11	transcript	ENST00000452271.7	protein_coding		3010		chr19	TogoVar
SBSN_chr19_35518367_35533311	35520359	TATATATA others(19): Show TATATATATATACATACACATATATAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00408.hp1 others(142): Show HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00642.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02273.hp2 HG02293.hp1 HG02523.hp1 HG02559.hp2 HG02615.hp2 HG02630.hp2 HG02698.hp1 HG02723.hp1 HG02738.hp2 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03098.hp2 HG03195.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18951.hp1 NA18953.hp2 NA18954.hp2 NA18956.hp1 NA18957.hp1 NA18961.hp1 NA18961.hp2 NA18965.hp2 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18982.hp2 NA18984.hp1 NA18986.hp2 NA18990.hp1 NA18993.hp2 NA18995.hp1 NA18997.hp2 NA18999.hp2 NA19001.hp1 NA19002.hp1 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19010.hp2 NA19030.hp2 NA19054.hp2 NA19056.hp2 NA19057.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19089.hp1 NA19091.hp2 NA20129.hp2 NA20805.hp1 NA20905.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0014 a0021 a0024 a0027 a0028	a0001c0002 a0001c0003 a0001c0005 others(19): Show a0001c0002 a0001c0003 a0001c0005 a0001c0012 a0001c0028 a0001c0029 a0002c0001 a0002c0011 a0002c0037 a0003c0004 a0003c0016 a0004c0007 a0004c0013 a0004c0025 a0005c0006 a0007c0009 a0008c0014 a0014c0044 a0021c0035 a0024c0030 a0027c0026 a0028c0021	a0001c0002t0001 a0001c0003t0001 a0001c0005t0001 others(19): Show a0001c0002t0001 a0001c0003t0001 a0001c0005t0001 a0001c0012t0001 a0001c0028t0001 a0001c0029t0001 a0002c0001t0001 a0002c0011t0001 a0002c0037t0001 a0003c0004t0001 a0003c0016t0001 a0004c0007t0001 a0004c0013t0001 a0004c0025t0001 a0005c0006t0002 a0007c0009t0001 a0008c0014t0001 a0014c0044t0001 a0021c0035t0001 a0024c0030t0001 a0027c0026t0001 a0028c0021t0001	a0001c0002t0001g0002 a0001c0002t0001g0028 a0001c0002t0001g0053 others(34): Show a0001c0002t0001g0002 a0001c0002t0001g0028 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0003t0001g0006 a0001c0003t0001g0084 a0001c0003t0001g0089 a0001c0005t0001g0007 a0001c0005t0001g0025 a0001c0005t0001g0032 a0001c0005t0001g0034 a0001c0005t0001g0082 a0001c0012t0001g0021 a0001c0028t0001g0051 a0001c0029t0001g0055 a0002c0001t0001g0001 a0002c0001t0001g0004 a0002c0001t0001g0018 a0002c0001t0001g0075 a0002c0011t0001g0017 a0002c0037t0001g0071 a0003c0004t0001g0003 a0003c0004t0001g0024 a0003c0004t0001g0062 a0003c0016t0001g0040 a0003c0016t0001g0041 a0004c0007t0001g0009 a0004c0013t0001g0022 a0004c0025t0001g0047 a0005c0006t0002g0038 a0007c0009t0001g0015 a0008c0014t0001g0026 a0014c0044t0001g0100 a0021c0035t0001g0068 a0024c0030t0001g0056 a0027c0026t0001g0049 a0028c0021t0001g0043	145	450	0.3222	-26	c.31 others(37): Show c.3125_*3150delGTATATATGTGTATGTATATATATAT	SBSN	ENSG00000189001.11	transcript	ENST00000452271.7	protein_coding		3007		chr19	TogoVar
SCAF11_chr12_45914131_45995574	45972903	TATATAGA others(19): Show TATATAGATATATATATAGATATATAG	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG03453.hp2 HG01167.hp2 HG01169.hp1 HG03453.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0022 a0001c0007t0003g0293 a0001c0007t0003g0022 a0001c0007t0003g0293	3	344	0.0087	-26	c.-21 others(43): Show c.-21-8741_-21-8716delCTATATATCTATATATATATCTATAT	SCAF11	ENSG00000139218.18	transcript	ENST00000369367.8	protein_coding	1/14			chr12	TogoVar
SCAF4_chr21_31666000_31737118	31717890	TATATACA others(19): Show TATATACACATATATACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0125 a0001c0003t0001g0125	1	352	0.0028	-26	c.31- others(43): Show c.31-11559_31-11534delGTGTGTGTGTGTATATATGTGTATAT	SCAF4	ENSG00000156304.15	transcript	ENST00000286835.12	protein_coding	1/19			chr21	TogoVar
SCAMP1_chr5_78355617_78485739	78460801	CTTCCTCC others(19): Show CTTCCTCCCTTCCTTCCTTCCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00738.hp1 HG01070.hp2 others(25): Show HG00280.hp2 HG00738.hp1 HG01070.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01515.hp1 HG01891.hp1 HG02071.hp2 HG02280.hp1 HG02572.hp1 HG02738.hp1 HG03491.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18941.hp2 NA18962.hp2 NA18978.hp2 NA18983.hp1 NA18986.hp2 NA19043.hp2 NA19067.hp1 NA19091.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0028 a0001c0001t0002 a0001c0001t0028	a0001c0001t0002g0002 a0001c0001t0002g0070 a0001c0001t0002g0073 others(24): Show a0001c0001t0002g0002 a0001c0001t0002g0070 a0001c0001t0002g0073 a0001c0001t0002g0075 a0001c0001t0002g0079 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0126 a0001c0001t0028g0114	28	332	0.0843	-26	c.852 others(43): Show c.852+1440_852+1465delTTCCTCCCTTCCTTCCTTCCTTTCTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8			chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78469910	AAACAAAA others(19): Show AAACAAAAAAAAAAAAAAAAAAACAAC	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA18988.hp2 NA18992.hp1 HG03453.hp2 NA18988.hp2 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0003 a0001c0001t0011	a0001c0001t0003g0278 a0001c0001t0003g0318 a0001c0001t0011g0156 a0001c0001t0003g0278 a0001c0001t0003g0318 a0001c0001t0011g0156	3	332	0.0090	-26	c.853 others(43): Show c.853-5589_853-5564delAAAAAAAAAAAAAAAAAACAACAACA	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP5_chr15_74990563_75026495	74991456	CCTCCCAA others(19): Show CCTCCCAAGTAGCTGGGATTACAGGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	370	0.0027	-26	c.-42 others(37): Show c.-4265_-4240delCTCCCAAGTAGCTGGGATTACAGGCG	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4106		chr15	TogoVar
SCAPER_chr15_76342904_76910340	76637742	ATGTGTGT others(19): Show ATGTGTGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0169 a0001c0010t0001g0169	1	312	0.0032	-26	c.264 others(47): Show c.2646-15939_2646-15914delCACACACACACACACACACACACA CA	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	21/31			chr15	TogoVar

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