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
RUNX1_chr21_34782801_35054302	34849294	T T	TATTTTTA others(8): Show TATTTTTATATATAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03471.hp2 NA18522.hp2 others(2): Show HG03453.hp2 HG03471.hp2 NA18522.hp2 NA18966.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0002g0020 a0001c0001t0002g0077 a0001c0003t0001g0011 others(2): Show a0001c0001t0002g0020 a0001c0001t0002g0077 a0001c0003t0001g0011 a0001c0003t0001g0143 a0001c0003t0001g0162	5	168	0.0298	15	c.613 others(34): Show c.613+10179_613+10180insTTTATATATAAAAAT	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	6/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	34874610	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03516.hp1 NA20300.hp2 HG02965.hp1 HG03516.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0026 a0001c0001t0001 a0001c0001t0004 a0001c0001t0026	a0001c0001t0001g0086 a0001c0001t0004g0130 a0001c0001t0026g0136 a0001c0001t0001g0086 a0001c0001t0004g0130 a0001c0001t0026g0136	3	69	0.0435	15	c.508 others(32): Show c.508+5932_508+5946dupTTTTTTTTTTTTTTT	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	5/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	34909588	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01257.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0144 a0001c0001t0004g0145 a0001c0001t0004g0144 a0001c0001t0004g0145	2	105	0.0190	15	c.59- others(32): Show c.59-16640_59-16626dupTTTTTTTTTTTTTTT	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	35022895	G G	GAATAATA others(8): Show GAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01169.hp2 HG01257.hp1 others(4): Show HG00642.hp2 HG01169.hp2 HG01257.hp1 HG02165.hp1 HG04115.hp1 NA18966.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014	a0001c0001t0001g0016 a0001c0001t0001g0044 a0001c0001t0002g0077 others(4): Show a0001c0001t0001g0016 a0001c0001t0001g0044 a0001c0001t0002g0077 a0001c0001t0002g0083 a0001c0001t0009g0041 a0001c0001t0011g0003 a0001c0001t0014g0040	7	73	0.0959	15	c.58+ others(32): Show c.58+25932_58+25946dupATTATTATTATTATT	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUSC2_chr9_35485111_35566895	35515999	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03831.hp1 NA18955.hp1 NA19091.hp1 HG03831.hp1 NA18955.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0107 a0001c0001t0001g0309 a0001c0001t0003g0012 a0001c0001t0001g0107 a0001c0001t0001g0309 a0001c0001t0003g0012	3	125	0.0240	15	c.-93 others(34): Show c.-93+25837_-93+25851dupAAAAAAAAAAAAAAA	RUSC2	ENSG00000198853.12	transcript	ENST00000361226.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
RUSC2_chr9_35485111_35566895	35516022	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01070.hp2 HG01071.hp1 others(16): Show HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01123.hp1 HG01517.hp2 HG01928.hp2 HG02132.hp1 HG02257.hp1 HG02273.hp1 HG02809.hp2 HG02922.hp1 HG03139.hp2 HG03654.hp1 HG04199.hp2 HG06807.hp2 NA18998.hp2 NA19007.hp1 NA20129.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0001t0011 a0001c0002t0003	a0001c0001t0001g0112 a0001c0001t0001g0192 a0001c0001t0001g0193 others(16): Show a0001c0001t0001g0112 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0201 a0001c0001t0001g0253 a0001c0001t0003g0011 a0001c0001t0003g0018 a0001c0001t0003g0020 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0038 a0001c0001t0003g0041 a0001c0001t0005g0195 a0001c0001t0010g0248 a0001c0001t0011g0251 a0001c0002t0003g0026	19	293	0.0648	15	c.-93 others(34): Show c.-93+25851_-93+25852insAAAAAAAAAAAAAGA	RUSC2	ENSG00000198853.12	transcript	ENST00000361226.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
RWDD2A_chr6_83188357_83203935	83191958	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	214	0.0047	15	c.-16 others(26): Show c.-1626_-1625insAAAAAAAAAAAAAAA	RWDD2A	ENSG00000013392.8	transcript	ENST00000369724.5	protein_coding		1398		chr6	TogoVar
RWDD4_chr4_183634635_183664185	183643415	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp1 HG02055.hp2 others(14): Show HG01243.hp2 HG01884.hp1 HG02055.hp2 HG02071.hp2 HG02523.hp1 HG03225.hp1 HG03471.hp1 NA18941.hp2 NA18967.hp1 NA18985.hp2 NA18986.hp2 NA18989.hp1 NA18993.hp2 NA18994.hp2 NA19001.hp2 NA19057.hp1 NA19060.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0018 a0002c0002t0004 a0002c0002t0019	a0001c0001t0001g0174 a0001c0001t0004g0135 a0001c0001t0007g0274 others(12): Show a0001c0001t0001g0174 a0001c0001t0004g0135 a0001c0001t0007g0274 a0001c0001t0007g0280 a0001c0001t0007g0371 a0001c0001t0018g0408 a0002c0002t0004g0028 a0002c0002t0004g0029 a0002c0002t0004g0103 a0002c0002t0004g0111 a0002c0002t0004g0134 a0002c0002t0004g0282 a0002c0002t0004g0305 a0002c0002t0004g0339 a0002c0002t0019g0136	17	21	0.8095	15	c.535 others(32): Show c.535-1962_535-1948dupTTTTTTTTTTTTTTT	RWDD4	ENSG00000182552.15	transcript	ENST00000326397.10	protein_coding	7/7			chr4	TogoVar
RXFP1_chr4_158516882_158658372	158517087	A A	AGACAGAC others(8): Show AGACAGACAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	208	0.0048	15	c.-48 others(26): Show c.-4890_-4889insGACAGACAGATAGAT	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding		4794		chr4	TogoVar
RXFP1_chr4_158516882_158658372	158542109	A A	ATATATAT others(8): Show ATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	25	0.0400	15	c.49+ others(32): Show c.49+20085_49+20086insATATATATATTTTTT	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXFP1_chr4_158516882_158658372	158542109	A A	ATATATAT others(8): Show ATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	25	0.0400	15	c.49+ others(32): Show c.49+20085_49+20086insATATATATTTTTTTT	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXFP1_chr4_158516882_158658372	158650432	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	123	0.0081	15	c.197 others(34): Show c.1976-1325_1976-1324insTATATATATATATAT	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	17/17			chr4	TogoVar
RXFP2_chr13_31734526_31808389	31759375	G G	GAGAAGAA others(8): Show GAGAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0264	1	34	0.0294	15	c.241 others(30): Show c.241+975_241+976insGAAAGAAAGAAAGAA	RXFP2	ENSG00000133105.8	transcript	ENST00000298386.7	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
RXFP2_chr13_31734526_31808389	31759375	G G	GGAAAGAA others(8): Show GGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	34	0.0294	15	c.241 others(30): Show c.241+971_241+972insGAAAGAAAGAAAGAA	RXFP2	ENSG00000133105.8	transcript	ENST00000298386.7	protein_coding	2/17			chr13	TogoVar
RXFP2_chr13_31734526_31808389	31776102	T T	TTTCTTTC others(8): Show TTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG02015.hp2 others(37): Show HG00280.hp1 HG00280.hp2 HG02015.hp2 HG02027.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp2 HG02615.hp1 HG02735.hp1 HG02922.hp2 HG03491.hp1 HG03704.hp2 HG04184.hp2 HG04228.hp1 NA18906.hp1 NA18941.hp2 NA18947.hp1 NA18951.hp1 NA18967.hp2 NA18968.hp2 NA18978.hp1 NA18983.hp2 NA18984.hp2 NA18987.hp2 NA18988.hp1 NA18994.hp2 NA18998.hp1 NA19000.hp1 NA19001.hp2 NA19007.hp1 NA19043.hp1 NA19064.hp2 NA19066.hp2 NA19068.hp1 NA19076.hp1 NA19078.hp1 NA19079.hp1 NA19088.hp1 NA19088.hp2 NA20752.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0004 a0006c0009 a0001c0001 a0001c0004 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0004t0001 a0006c0009t0001	a0001c0001t0001g0002 a0001c0001t0001g0035 a0001c0001t0001g0042 others(36): Show a0001c0001t0001g0002 a0001c0001t0001g0035 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0144 a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0213 a0001c0001t0001g0222 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0265 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0005g0141 a0001c0001t0005g0183 a0001c0004t0001g0123 a0001c0004t0001g0124 a0001c0004t0001g0280 a0006c0009t0001g0163	40	114	0.3509	15	c.641 others(30): Show c.641+715_641+716insCTTTCTTTCTTTCTT	RXFP2	ENSG00000133105.8	transcript	ENST00000298386.7	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
RXFP3_chr5_33931386_33943918	33935065	T T	TTTCTTTC others(8): Show TTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	444	0.0023	15	c.-16 others(26): Show c.-1676_-1675insTTCTTTCTTTCTTTC	RXFP3	ENSG00000182631.7	transcript	ENST00000330120.5	protein_coding		1320		chr5	TogoVar
RYK_chr3_134152133_134255859	134249917	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	108	0.0093	15	c.232 others(30): Show c.232+491_232+505dupAAAAAAAAAAAAAAA	RYK	ENSG00000163785.14	transcript	ENST00000623711.4	protein_coding	1/14			chr3	TogoVar
RYR1_chr19_38428691_38592564	38520693	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0013 a0013	a0013c0048 a0013c0048	a0013c0048t0001 a0013c0048t0001	a0013c0048t0001g0070 a0013c0048t0001g0070	1	114	0.0088	15	c.102 others(36): Show c.10259+1251_10259+1265dupAAAAAAAAAAAAAAA	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	67/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR2_chr1_237037184_237838988	237061276	C C	CATCTATC others(8): Show CATCTATCATCTATCT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0076 a0001c0002t0002g0076	1	26	0.0385	15	c.48+ others(32): Show c.48+18714_48+18715insATCTATCTATCTATC	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237107519	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02523.hp1 NA18747.hp1 HG01109.hp2 HG02523.hp1 NA18747.hp1	a0001 a0001	a0001c0004 a0001c0007 a0001c0022 a0001c0004 a0001c0007 a0001c0022	a0001c0004t0011 a0001c0007t0021 a0001c0022t0009 a0001c0004t0011 a0001c0007t0021 a0001c0022t0009	a0001c0004t0011g0047 a0001c0007t0021g0048 a0001c0022t0009g0066 a0001c0004t0011g0047 a0001c0007t0021g0048 a0001c0022t0009g0066	3	22	0.1364	15	c.48+ others(32): Show c.48+64953_48+64967dupAAAAAAAAAAAAAAA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237117671	C C	CCTTCTCT others(8): Show CCTTCTCTTCTCTTCT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01175.hp2 HG01243.hp1 others(7): Show HG01074.hp2 HG01175.hp2 HG01243.hp1 HG03195.hp1 HG03209.hp2 HG03831.hp1 HG04228.hp2 NA18747.hp2 NA19066.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0002 a0001c0003 a0001c0007 others(5): Show a0001c0002 a0001c0003 a0001c0007 a0001c0030 a0002c0012 a0002c0031 a0003c0006 a0005c0046	a0001c0002t0003 a0001c0003t0002 a0001c0003t0004 others(6): Show a0001c0002t0003 a0001c0003t0002 a0001c0003t0004 a0001c0007t0001 a0001c0030t0005 a0002c0012t0020 a0002c0031t0022 a0003c0006t0002 a0005c0046t0012	a0001c0002t0003g0052 a0001c0003t0002g0065 a0001c0003t0004g0016 others(7): Show a0001c0002t0003g0052 a0001c0003t0002g0065 a0001c0003t0004g0016 a0001c0007t0001g0020 a0001c0030t0005g0053 a0002c0012t0020g0074 a0002c0031t0022g0056 a0003c0006t0002g0006 a0003c0006t0002g0094 a0005c0046t0012g0080	10	18	0.5556	15	c.48+ others(32): Show c.48+75175_48+75189dupTCTCTTCTCTTCTCT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237138016	A A	ATATTTTA others(8): Show ATATTTTATTTTATTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0036 a0001c0001t0004g0036	1	94	0.0106	15	c.48+ others(32): Show c.48+95464_48+95478dupATTTTATTTTATTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237148521	A A	ATATATTT others(8): Show ATATATTTATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03209.hp2 HG01243.hp1 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0030 a0001c0002 a0001c0030	a0001c0002t0003 a0001c0030t0005 a0001c0002t0003 a0001c0030t0005	a0001c0002t0003g0052 a0001c0030t0005g0053 a0001c0002t0003g0052 a0001c0030t0005g0053	2	93	0.0215	15	c.48+ others(34): Show c.48+105952_48+105953insTATATTTATATATAT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104			chr1	TogoVar
RYR2_chr1_237037184_237838988	237193165	T T	TGCAAAAA others(8): Show TGCAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0036 a0001c0040t0036	a0001c0040t0036g0095 a0001c0040t0036g0095	1	99	0.0101	15	c.49- others(32): Show c.49-77332_49-77331insGCAAAAAAAAAAAAA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104			chr1	TogoVar
RYR2_chr1_237037184_237838988	237193167	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01175.hp1 HG01243.hp1 others(9): Show HG01099.hp2 HG01175.hp1 HG01243.hp1 HG02257.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG03098.hp1 HG03195.hp1 HG03486.hp1 HG03831.hp1 NA18962.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0001c0003 a0001c0004 others(6): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0010 a0001c0011 a0001c0030 a0001c0042 a0005c0046	a0001c0002t0023 a0001c0003t0001 a0001c0003t0004 others(8): Show a0001c0002t0023 a0001c0003t0001 a0001c0003t0004 a0001c0004t0011 a0001c0004t0027 a0001c0005t0031 a0001c0010t0026 a0001c0011t0041 a0001c0030t0005 a0001c0042t0017 a0005c0046t0012	a0001c0002t0023g0059 a0001c0003t0001g0078 a0001c0003t0004g0016 others(9): Show a0001c0002t0023g0059 a0001c0003t0001g0078 a0001c0003t0004g0016 a0001c0003t0004g0060 a0001c0004t0011g0093 a0001c0004t0027g0005 a0001c0005t0031g0028 a0001c0010t0026g0051 a0001c0011t0041g0054 a0001c0030t0005g0053 a0001c0042t0017g0050 a0005c0046t0012g0080	12	14	0.8571	15	c.49- others(32): Show c.49-77317_49-77316insAAAAAAAAAAAAAAA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237237945	C C	CCCTTTCC others(8): Show CCCTTTCCTTTCCTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp2 HG01243.hp2 others(2): Show HG00738.hp1 HG00741.hp2 HG01243.hp2 HG03471.hp2 HG03669.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0002 a0001c0041 a0002c0035 others(2): Show a0001c0002 a0001c0041 a0002c0035 a0002c0039 a0006c0020	a0001c0002t0001 a0001c0041t0006 a0002c0035t0018 others(2): Show a0001c0002t0001 a0001c0041t0006 a0002c0035t0018 a0002c0039t0033 a0006c0020t0001	a0001c0002t0001g0070 a0001c0041t0006g0027 a0002c0035t0018g0010 others(2): Show a0001c0002t0001g0070 a0001c0041t0006g0027 a0002c0035t0018g0010 a0002c0039t0033g0030 a0006c0020t0001g0015	5	13	0.3846	15	c.49- others(32): Show c.49-32524_49-32510dupTTTCCTTTCCTTTCC	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237346367	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG03098.hp2 HG03486.hp2 HG01981.hp2 HG03098.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0032 a0001c0001 a0001c0004 a0001c0032	a0001c0001t0038 a0001c0004t0004 a0001c0032t0005 a0001c0001t0038 a0001c0004t0004 a0001c0032t0005	a0001c0001t0038g0001 a0001c0004t0004g0009 a0001c0032t0005g0098 a0001c0001t0038g0001 a0001c0004t0004g0009 a0001c0032t0005g0098	3	73	0.0411	15	c.274 others(32): Show c.274-9595_274-9581dupAAAAAAAAAAAAAAA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	3/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237350594	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0002 a0002c0012t0002	a0002c0012t0002g0072 a0002c0012t0002g0072	1	94	0.0106	15	c.274 others(32): Show c.274-5371_274-5370insTATATATATATATAT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	3/104			chr1	TogoVar
RYR2_chr1_237037184_237838988	237436454	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0004 a0001c0011t0004	a0001c0011t0004g0064 a0001c0011t0004g0064	1	24	0.0417	15	c.100 others(34): Show c.1006-4855_1006-4841dupTTTTTTTTTTTTTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	12/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237515811	C C	CTCCTCCC others(8): Show CTCCTCCCTCTTCTCT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00738.hp1 HG00738.hp2 others(25): Show HG00280.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01074.hp1 HG01099.hp2 HG01168.hp2 HG01256.hp1 HG01361.hp1 HG01361.hp2 HG01928.hp1 HG01928.hp2 HG02055.hp2 HG02257.hp2 HG02280.hp1 HG02293.hp2 HG02559.hp2 HG03017.hp1 HG03195.hp1 HG03516.hp1 HG03669.hp1 HG03704.hp1 HG03831.hp1 HG04228.hp1 HG04228.hp2 NA18946.hp1 NA18962.hp1 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0019 a0001c0028 a0001c0040 a0001c0041 a0001c0044 a0002c0039 a0003c0006 a0003c0013 a0005c0046	a0001c0001t0003 a0001c0001t0006 a0001c0001t0015 others(21): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0015 a0001c0002t0002 a0001c0002t0009 a0001c0002t0010 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0004t0002 a0001c0004t0011 a0001c0004t0027 a0001c0005t0031 a0001c0007t0003 a0001c0019t0019 a0001c0028t0007 a0001c0040t0036 a0001c0041t0006 a0001c0044t0002 a0002c0039t0033 a0003c0006t0004 a0003c0013t0001 a0005c0046t0012	a0001c0001t0003g0023 a0001c0001t0003g0088 a0001c0001t0003g0100 others(25): Show a0001c0001t0003g0023 a0001c0001t0003g0088 a0001c0001t0003g0100 a0001c0001t0006g0025 a0001c0001t0015g0069 a0001c0002t0002g0076 a0001c0002t0009g0017 a0001c0002t0010g0021 a0001c0003t0002g0065 a0001c0003t0002g0090 a0001c0003t0003g0046 a0001c0003t0004g0016 a0001c0003t0004g0060 a0001c0003t0005g0018 a0001c0004t0002g0092 a0001c0004t0011g0093 a0001c0004t0027g0005 a0001c0005t0031g0028 a0001c0007t0003g0057 a0001c0019t0019g0035 a0001c0028t0007g0062 a0001c0040t0036g0095 a0001c0041t0006g0027 a0001c0044t0002g0014 a0002c0039t0033g0030 a0003c0006t0004g0087 a0003c0013t0001g0091 a0005c0046t0012g0080	28	100	0.2800	15	c.282 others(34): Show c.2822+4035_2822+4049dupTTCCTCCCTCTTCTC	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	24/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237515888	C C	CCTCCCTC others(8): Show CCTCCCTCTTCTCCCT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0004 a0004	a0004c0034 a0004c0034	a0004c0034t0013 a0004c0034t0013	a0004c0034t0013g0043 a0004c0034t0013g0043	1	100	0.0100	15	c.282 others(34): Show c.2822+4110_2822+4111insCTCTCCCTCTTCTCC	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	24/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237591152	C C	CCTCCTCC others(8): Show CCTCCTCCTCCCCCTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA18522.hp2 NA19043.hp1 HG02451.hp1 NA18522.hp2 NA19043.hp1	a0001 a0001	a0001c0005 a0001c0008 a0001c0037 a0001c0005 a0001c0008 a0001c0037	a0001c0005t0014 a0001c0008t0039 a0001c0037t0012 a0001c0005t0014 a0001c0008t0039 a0001c0037t0012	a0001c0005t0014g0004 a0001c0008t0039g0002 a0001c0037t0012g0037 a0001c0005t0014g0004 a0001c0008t0039g0002 a0001c0037t0012g0037	3	99	0.0303	15	c.416 others(32): Show c.4160+166_4160+167insCTCCCCCTTCTCCTC	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	31/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237591159	T T	TTCCCCCT others(8): Show TTCCCCCTTCTCCTCC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03516.hp1 HG02572.hp2 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0019 a0001c0002 a0001c0019	a0001c0002t0028 a0001c0019t0019 a0001c0002t0028 a0001c0019t0019	a0001c0002t0028g0033 a0001c0019t0019g0035 a0001c0002t0028g0033 a0001c0019t0019g0035	2	28	0.0714	15	c.416 others(32): Show c.4160+231_4160+245dupCCCTTCTCCTCCTCC	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	31/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237631613	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03471.hp1 HG03516.hp2 HG03195.hp2 HG03471.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0018 a0001c0048 a0001c0001 a0001c0018 a0001c0048	a0001c0001t0004 a0001c0018t0029 a0001c0048t0001 a0001c0001t0004 a0001c0018t0029 a0001c0048t0001	a0001c0001t0004g0036 a0001c0018t0029g0041 a0001c0048t0001g0007 a0001c0001t0004g0036 a0001c0018t0029g0041 a0001c0048t0001g0007	3	8	0.3750	15	c.655 others(31): Show c.6555+90_6555+104dupTTTTTTTTTTTTTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	42/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR3_chr15_33305967_33871102	33432697	T T	TGTGTGTG others(8): Show TGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0011 a0011	a0011c0086 a0011c0086	a0011c0086t0002 a0011c0086t0002	a0011c0086t0002g0111 a0011c0086t0002g0111	1	148	0.0068	15	c.52- others(32): Show c.52-40722_52-40721insGTGTGTGTGTGTGTG	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103			chr15	TogoVar
RYR3_chr15_33305967_33871102	33460940	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp1 HG01109.hp1 others(10): Show HG00642.hp2 HG00738.hp1 HG01109.hp1 HG01891.hp2 HG02109.hp2 HG03688.hp1 HG04184.hp1 NA18959.hp2 NA18981.hp2 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19062.hp2	a0001 a0004 a0005 others(2): Show a0001 a0004 a0005 a0010 a0046	a0001c0001 a0001c0002 a0001c0004 others(9): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0013 a0004c0006 a0004c0016 a0004c0068 a0005c0008 a0010c0017 a0010c0112 a0046c0109	a0001c0001t0001 a0001c0002t0002 a0001c0004t0001 others(10): Show a0001c0001t0001 a0001c0002t0002 a0001c0004t0001 a0001c0004t0003 a0001c0005t0001 a0001c0013t0001 a0004c0006t0001 a0004c0016t0007 a0004c0068t0001 a0005c0008t0001 a0010c0017t0012 a0010c0112t0003 a0046c0109t0005	a0001c0001t0001g0044 a0001c0002t0002g0102 a0001c0004t0001g0036 others(10): Show a0001c0001t0001g0044 a0001c0002t0002g0102 a0001c0004t0001g0036 a0001c0004t0003g0104 a0001c0005t0001g0005 a0001c0013t0001g0026 a0004c0006t0001g0149 a0004c0016t0007g0116 a0004c0068t0001g0033 a0005c0008t0001g0019 a0010c0017t0012g0079 a0010c0112t0003g0020 a0046c0109t0005g0040	13	43	0.3023	15	c.52- others(32): Show c.52-12471_52-12457dupTTTTTTTTTTTTTTT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33460962	T T	TTTTTTTT others(8): Show TTTTTTTTTTTTTTTA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0008 a0008	a0008c0019 a0008c0019	a0008c0019t0001 a0008c0019t0001	a0008c0019t0001g0001 a0008c0019t0001g0001	1	152	0.0066	15	c.52- others(32): Show c.52-12457_52-12456insTTTTTTTTTTTTTTA	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103			chr15	TogoVar
RYR3_chr15_33305967_33871102	33789658	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0049 a0002c0049	a0002c0049t0003 a0002c0049t0003	a0002c0049t0003g0014 a0002c0049t0003g0014	1	79	0.0127	15	c.983 others(34): Show c.9830+1201_9830+1202insATATATATATATATT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	67/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33789658	A A	ATATATAT others(8): Show ATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02145.hp2 HG01496.hp1 HG02145.hp2	a0002 a0025 a0002 a0025	a0002c0089 a0025c0036 a0002c0089 a0025c0036	a0002c0089t0008 a0025c0036t0010 a0002c0089t0008 a0025c0036t0010	a0002c0089t0008g0129 a0025c0036t0010g0088 a0002c0089t0008g0129 a0025c0036t0010g0088	2	80	0.0250	15	c.983 others(34): Show c.9830+1201_9830+1202insATATATATATATTTT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	67/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33789658	A A	ATATTTTT others(8): Show ATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0005 a0001c0005t0001g0005	1	79	0.0127	15	c.983 others(34): Show c.9830+1201_9830+1202insATTTTTTTTTTTTTT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	67/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33789986	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02055.hp2 HG01255.hp2 HG02055.hp2	a0007 a0023 a0007 a0023	a0007c0073 a0023c0107 a0007c0073 a0023c0107	a0007c0073t0001 a0023c0107t0003 a0007c0073t0001 a0023c0107t0003	a0007c0073t0001g0138 a0023c0107t0003g0003 a0007c0073t0001g0138 a0023c0107t0003g0003	2	51	0.0392	15	c.983 others(34): Show c.9830+1537_9830+1551dupTTTTTTTTTTTTTTT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	67/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33864032	A A	ATAGCGTG others(8): Show ATAGCGTGGGACCAAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0023 a0023	a0023c0107 a0023c0107	a0023c0107t0003 a0023c0107t0003	a0023c0107t0003g0003 a0023c0107t0003g0003	1	152	0.0066	15	c.144 others(33): Show c.14466-101_14466-87dupGTGGGACCAACTAGC	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	102/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
S100A14_chr1_153609255_153621325	153611856	G G	GGTTGTGA others(8): Show GGTTGTGAGGTAACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00408.hp1 others(197): Show HG00099.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02148.hp1 HG02155.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02559.hp1 HG02615.hp1 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02895.hp1 HG02896.hp1 HG02965.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03834.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp2 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18955.hp2 NA18957.hp2 NA18960.hp1 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18987.hp2 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18995.hp2 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19004.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19012.hp2 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19059.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp2 NA19070.hp1 NA19076.hp2 NA19077.hp1 NA19078.hp1 NA19079.hp1 NA19082.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0001 a0001c0001t0003 a0001c0001t0008	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0008g0019	200	392	0.5102	15	c.30 others(26): Show c.3028_*3029insGGGTTACCTCACAAC	S100A14	ENSG00000189334.9	transcript	ENST00000344616.4	protein_coding		2398		chr1	TogoVar
S100A16_chr1_153601886_153618137	153611856	G G	GGTTGTGA others(8): Show GGTTGTGAGGTAACCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(206): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02148.hp1 HG02155.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02559.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02895.hp2 HG02896.hp1 HG02965.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18995.hp2 NA18997.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19003.hp1 NA19004.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp2 NA19054.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19067.hp2 NA19074.hp2 NA19077.hp2 NA19078.hp2 NA19079.hp2 NA19082.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0003t0002 a0002c0002t0002 a0003c0004t0002	a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0018 others(48): Show a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0059 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0021 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0062 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0004g0026 a0001c0001t0004g0039 a0001c0001t0004g0048 a0001c0001t0004g0055 a0001c0001t0005g0014 a0001c0001t0006g0064 a0001c0001t0006g0065 a0001c0001t0008g0033 a0001c0001t0010g0076 a0001c0003t0002g0029 a0002c0002t0002g0022 a0003c0004t0002g0070	209	398	0.5251	15	c.-27 others(32): Show c.-27+1095_-27+1096insGGGTTACCTCACAAC	S100A16	ENSG00000188643.11	transcript	ENST00000368706.9	protein_coding	1/2			chr1	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGGG others(8): Show AGGGGGGGGCGGGGGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01261.hp1 HG00140.hp2 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0005 a0001c0001t0001 a0001c0002t0005	a0001c0001t0001g0107 a0001c0002t0005g0072 a0001c0001t0001g0107 a0001c0002t0005g0072	2	42	0.0476	15	c.-1- others(28): Show c.-1-977_-1-976insCCCCCCGCCCCCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100B_chr21_46593604_46610082	46603393	G G	GGGGGGGG others(8): Show GGGGGGGGCGGGGGGT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	450	0.0022	15	c.-1- others(28): Show c.-1-978_-1-977insACCCCCCGCCCCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100P_chr4_6688878_6702170	6692652	C C	CTACCTCC others(8): Show CTACCTCCATGCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02257.hp1 HG02451.hp2 others(7): Show HG02109.hp2 HG02257.hp1 HG02451.hp2 HG02922.hp1 HG03195.hp1 HG03209.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0031 a0001c0003t0001g0006 a0001c0001t0001g0031 a0001c0003t0001g0006	10	480	0.0208	15	c.-12 others(26): Show c.-1281_-1280insTACCTCCATGCTCCT	S100P	ENSG00000163993.7	transcript	ENST00000296370.4	protein_coding		1225		chr4	TogoVar
S1PR1_chr1_101232019_101246518	101232706	A A	AAATAATA others(8): Show AAATAATAATAATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00423.hp2 HG00609.hp1 others(59): Show HG00323.hp2 HG00423.hp2 HG00609.hp1 HG00621.hp1 HG00733.hp1 HG00733.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01358.hp2 HG01952.hp2 HG01981.hp1 HG02071.hp1 HG02071.hp2 HG02129.hp2 HG02155.hp2 HG02602.hp1 HG02698.hp1 HG02698.hp2 HG02738.hp1 HG02922.hp2 HG03453.hp2 HG03490.hp1 HG03491.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04184.hp2 HG04204.hp2 HG06807.hp1 NA18940.hp1 NA18949.hp1 NA18954.hp1 NA18957.hp2 NA18980.hp1 NA18986.hp2 NA18990.hp1 NA19000.hp1 NA19009.hp2 NA19057.hp1 NA19062.hp1 NA19063.hp1 NA19065.hp1 NA19077.hp1 NA19079.hp2 NA19080.hp1 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(17): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0029 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0044 a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0042 a0001c0001t0004g0009 a0001c0001t0004g0034 a0001c0001t0004g0039 a0001c0001t0006g0014 a0001c0001t0012g0021 a0001c0001t0013g0001 a0001c0001t0015g0007 a0003c0003t0001g0001	62	118	0.5254	15	c.-45 others(26): Show c.-4557_-4556insAATAATAATAATAAT	S1PR1	ENSG00000170989.10	transcript	ENST00000305352.7	protein_coding		4312		chr1	TogoVar
SAA1_chr11_18261264_18274967	18264773	A A	AGAGGGGA others(8): Show AGAGGGGAGGGGAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00597.hp2 HG00621.hp1 others(76): Show HG00323.hp2 HG00597.hp2 HG00621.hp1 HG00642.hp1 HG00735.hp1 HG01175.hp1 HG01934.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02074.hp1 HG02080.hp2 HG02135.hp2 HG02155.hp2 HG02165.hp2 HG02280.hp2 HG02602.hp1 HG02683.hp1 HG02683.hp2 HG02809.hp1 HG03688.hp1 HG03834.hp1 HG03942.hp2 HG04184.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18940.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18948.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18961.hp1 NA18963.hp2 NA18964.hp2 NA18969.hp2 NA18971.hp2 NA18973.hp1 NA18975.hp2 NA18978.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18998.hp2 NA19000.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp2 NA19070.hp1 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19077.hp1 NA19080.hp1 NA19081.hp1 NA19084.hp2 NA19086.hp2 NA19091.hp1 NA20805.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0008 a0009	a0001c0004 a0002c0001 a0003c0003 others(2): Show a0001c0004 a0002c0001 a0003c0003 a0008c0015 a0009c0013	a0001c0004t0001 a0002c0001t0001 a0003c0003t0001 others(2): Show a0001c0004t0001 a0002c0001t0001 a0003c0003t0001 a0008c0015t0001 a0009c0013t0001	a0001c0004t0001g0017 a0001c0004t0001g0040 a0002c0001t0001g0012 others(8): Show a0001c0004t0001g0017 a0001c0004t0001g0040 a0002c0001t0001g0012 a0002c0001t0001g0024 a0002c0001t0001g0036 a0003c0003t0001g0003 a0003c0003t0001g0018 a0003c0003t0001g0038 a0003c0003t0001g0039 a0008c0015t0001g0016 a0009c0013t0001g0003	79	385	0.2052	15	c.-15 others(26): Show c.-1528_-1527insGAGGGGAGGGGAGGG	SAA1	ENSG00000173432.13	transcript	ENST00000356524.9	protein_coding		1490		chr11	TogoVar
SAA4_chr11_18226355_18241802	18228270	T T	TAAATAAA others(8): Show TAAATAAAATAAAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG02970.hp2 HG02698.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0002 a0001c0001t0003g0040 a0001c0001t0001g0002 a0001c0001t0003g0040	2	348	0.0057	15	c.32 others(26): Show c.3231_*3232insTATTTTATTTTATTT	SAA4	ENSG00000148965.10	transcript	ENST00000278222.7	protein_coding		3084		chr11	TogoVar

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