Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SIGIRR_chr11_400716_419999	402678	CCCCGACC others(51): Show CCCCGACCCGCTCACCCCGACCCCGCTCACCCCCGCCCCGCTCACCCCTG CCCCGCTCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0028 a0001c0003t0001g0028	1	242	0.0041	-58	c.31 others(69): Show c.3160_*3217delTGAGCGGGGCAGGGGTGAGCGGGGCGGGGGTGAG CGGGGTCGGGGTGAGCGGGTCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3037		chr11	TogoVar
SIM1_chr6_100380009_100469921	100412579	GAAAGAAA others(51): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAAGAAAGAAGGAAAG AAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02071.hp1 NA19004.hp2 HG01515.hp2 HG02071.hp1 NA19004.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0136 a0002c0002t0001g0292 a0002c0002t0001g0317 a0002c0002t0001g0136 a0002c0002t0001g0292 a0002c0002t0001g0317	3	320	0.0094	-58	c.116 others(77): Show c.1167+8153_1167+8210delTCTTTCTTTCTTTCCTTCTTTCTTTC CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	SIM1	ENSG00000112246.10	transcript	ENST00000369208.8	protein_coding	10/11			chr6	TogoVar
SLC12A1_chr15_48201302_48309078	48240054	TATATATA others(51): Show TATATATATATATATATCCATATATATATATATATATCCATATATATATA TATATATCC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02965.hp2 HG03195.hp1 others(1): Show HG01243.hp1 HG02965.hp2 HG03195.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0056 a0001c0001t0003g0081 a0001c0001t0003g0082 others(1): Show a0001c0001t0003g0056 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0002t0002g0266	4	266	0.0150	-58	c.121 others(77): Show c.1216-1445_1216-1388delTCCATATATATATATATATATCCATA TATATATATATATATCCATATATATATATATA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC16A9_chr10_59645764_59714850	59681777	GTATATGA others(51): Show GTATATGATGTATATGTATATGTATATGTATATGTATATATGATGTATAT GTATATGTA	G G	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18978.hp2 NA18951.hp1 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0172 a0001c0001t0008g0246 a0001c0001t0008g0172 a0001c0001t0008g0246	2	352	0.0057	-58	c.196 others(75): Show c.196+2261_196+2318delTACATATACATATACATCATATATACAT ATACATATACATATACATATACATCATATA	SLC16A9	ENSG00000165449.12	transcript	ENST00000395348.8	protein_coding	2/5			chr10	TogoVar
SLC19A1_chr21_45507565_45547440	45510951	AACACCCC others(51): Show AACACCCCACATACACCCCCAAACACCCCCCACACCCCACACACACAACA CACCCCCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(205): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp1 NA18906.hp1 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18959.hp1 NA18959.hp2 NA18964.hp2 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp2 NA19087.hp1 NA19087.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0007	a0001c0001 a0001c0004 a0001c0008 others(8): Show a0001c0001 a0001c0004 a0001c0008 a0001c0012 a0002c0002 a0002c0003 a0002c0006 a0003c0005 a0003c0010 a0004c0014 a0007c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(37): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0004t0001 a0001c0004t0023 a0001c0004t0024 a0001c0004t0034 a0001c0008t0001 a0001c0012t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0011 a0002c0002t0018 a0002c0002t0019 a0002c0002t0030 a0002c0002t0036 a0002c0002t0038 a0002c0002t0043 a0002c0002t0045 a0002c0003t0002 a0002c0006t0004 a0003c0005t0013 a0003c0005t0015 a0003c0005t0017 a0003c0010t0001 a0004c0014t0004 a0007c0011t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(179): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0147 a0001c0001t0001g0159 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0227 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0261 a0001c0001t0003g0011 a0001c0001t0003g0019 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0059 a0001c0001t0003g0070 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0088 a0001c0001t0003g0112 a0001c0001t0003g0115 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0121 a0001c0001t0003g0125 a0001c0001t0003g0146 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0210 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0236 a0001c0001t0003g0268 a0001c0001t0003g0270 a0001c0001t0003g0272 a0001c0001t0006g0031 a0001c0001t0006g0090 a0001c0001t0006g0100 a0001c0001t0006g0106 a0001c0001t0006g0113 a0001c0001t0006g0145 a0001c0001t0006g0157 a0001c0001t0006g0158 a0001c0001t0008g0012 a0001c0001t0008g0036 a0001c0001t0008g0092 a0001c0001t0010g0151 a0001c0001t0012g0034 a0001c0001t0012g0035 a0001c0001t0012g0098 a0001c0001t0014g0071 a0001c0001t0014g0072 a0001c0001t0025g0073 a0001c0001t0026g0101 a0001c0001t0027g0212 a0001c0001t0028g0120 a0001c0001t0029g0096 a0001c0001t0031g0037 a0001c0001t0032g0102 a0001c0001t0033g0109 a0001c0004t0001g0260 a0001c0004t0001g0262 a0001c0004t0023g0058 a0001c0004t0024g0057 a0001c0004t0034g0239 a0001c0008t0001g0075 a0001c0008t0001g0108 a0001c0012t0001g0214 a0002c0002t0002g0055 a0002c0002t0002g0179 a0002c0002t0002g0252 a0002c0002t0002g0253 a0002c0002t0004g0002 a0002c0002t0004g0027 a0002c0002t0004g0042 a0002c0002t0004g0061 a0002c0002t0004g0161 a0002c0002t0004g0164 a0002c0002t0004g0165 a0002c0002t0004g0198 a0002c0002t0004g0220 a0002c0002t0004g0222 a0002c0002t0004g0223 a0002c0002t0004g0255 a0002c0002t0004g0256 a0002c0002t0005g0040 a0002c0002t0005g0041 a0002c0002t0005g0052 a0002c0002t0005g0134 a0002c0002t0005g0135 a0002c0002t0005g0140 a0002c0002t0005g0143 a0002c0002t0005g0186 a0002c0002t0005g0191 a0002c0002t0005g0258 a0002c0002t0011g0183 a0002c0002t0018g0138 a0002c0002t0018g0141 a0002c0002t0019g0122 a0002c0002t0019g0240 a0002c0002t0030g0150 a0002c0002t0036g0187 a0002c0002t0038g0124 a0002c0002t0043g0195 a0002c0002t0045g0043 a0002c0003t0002g0216 a0002c0006t0004g0063 a0002c0006t0004g0064 a0002c0006t0004g0065 a0003c0005t0013g0245 a0003c0005t0013g0246 a0003c0005t0013g0269 a0003c0005t0015g0026 a0003c0005t0017g0024 a0003c0010t0001g0232 a0004c0014t0004g0062 a0007c0011t0001g0152	208	318	0.6541	-58	c.46 others(69): Show c.4649_*4706delGGGGGGGTGTGTTGTGTGTGTGGGGTGTGGGGGG TGTTTGGGGGTGTATGTGGGGTGT	SLC19A1	ENSG00000173638.19	transcript	ENST00000311124.9	protein_coding		1613		chr21	TogoVar
SLC24A3_chr20_19207642_19727926	19346164	ATATATGG others(51): Show ATATATGGTATATATATATGGTGTATATATATATATGGTATATATATATG GTGTATATG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01109.hp2 HG01167.hp2 others(14): Show HG00438.hp1 HG01109.hp2 HG01167.hp2 HG01243.hp2 HG01891.hp1 HG02559.hp2 HG02622.hp1 HG02647.hp1 HG02818.hp2 HG02976.hp2 HG03041.hp1 HG03130.hp2 HG03209.hp2 HG03486.hp2 HG03516.hp2 NA19240.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0002c0002 a0002c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0003t0002 a0001c0003t0003 a0001c0004t0001 a0001c0004t0007 a0001c0008t0002 a0001c0008t0003 a0001c0008t0021 a0002c0002t0003 a0002c0002t0010 a0002c0005t0006	a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0094 others(14): Show a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0094 a0001c0001t0003g0091 a0001c0001t0010g0002 a0001c0003t0002g0145 a0001c0003t0003g0042 a0001c0004t0001g0043 a0001c0004t0001g0059 a0001c0004t0001g0088 a0001c0004t0007g0114 a0001c0008t0002g0090 a0001c0008t0003g0060 a0001c0008t0021g0154 a0002c0002t0003g0124 a0002c0002t0010g0001 a0002c0005t0006g0066	17	160	0.1063	-58	c.271 others(77): Show c.271+65083_271+65140delGGTATATATATATGGTGTATATATAT ATATGGTATATATATATGGTGTATATGTATAT	SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC25A23_chr19_6435064_6464792	6441773	GTGGTTGG others(51): Show GTGGTTGGGGCATAGGAGTCTAGGATCCAGGATCTGGATGCTGGGATCCC ATGACCCAA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp2 HG01106.hp2 HG01167.hp2 others(18): Show HG00741.hp2 HG01106.hp2 HG01167.hp2 HG01169.hp2 HG01358.hp1 HG01891.hp1 HG01934.hp1 HG02280.hp2 HG02572.hp1 HG02630.hp2 HG02735.hp1 HG02886.hp2 HG03098.hp2 HG03195.hp2 HG03209.hp1 HG03688.hp1 HG04184.hp1 HG06807.hp1 NA19240.hp1 NA20129.hp2 NA20805.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0014 a0004c0015	a0001c0001t0003 a0001c0002t0003 a0001c0002t0033 others(4): Show a0001c0001t0003 a0001c0002t0003 a0001c0002t0033 a0001c0004t0003 a0001c0004t0019 a0001c0014t0034 a0004c0015t0035	a0001c0001t0003g0065 a0001c0001t0003g0096 a0001c0001t0003g0251 others(17): Show a0001c0001t0003g0065 a0001c0001t0003g0096 a0001c0001t0003g0251 a0001c0001t0003g0255 a0001c0001t0003g0257 a0001c0002t0003g0034 a0001c0002t0003g0109 a0001c0002t0003g0110 a0001c0002t0003g0111 a0001c0002t0003g0121 a0001c0002t0003g0122 a0001c0002t0003g0208 a0001c0002t0003g0231 a0001c0002t0003g0252 a0001c0002t0003g0261 a0001c0002t0033g0207 a0001c0004t0003g0247 a0001c0004t0019g0248 a0001c0014t0034g0232 a0004c0015t0035g0224	21	366	0.0574	-58	c.14 others(67): Show c.144_*201delTTGGGTCATGGGATCCCAGCATCCAGATCCTGGATC CTAGACTCCTATGCCCCAACCA	SLC25A23	ENSG00000125648.15	transcript	ENST00000301454.9	protein_coding	10/10	144		chr19	TogoVar
SLC28A1_chr15_84879662_84950798	84906535	TCTTTCTT others(51): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTCCTTCCTT CCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02257.hp2 HG02280.hp2 others(10): Show HG01884.hp2 HG02257.hp2 HG02280.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02723.hp1 HG02896.hp2 HG03209.hp2 HG03516.hp2 NA18522.hp1 NA19043.hp2 NA20300.hp2	a0001 a0001	a0001c0012 a0001c0021 a0001c0038 others(2): Show a0001c0012 a0001c0021 a0001c0038 a0001c0046 a0001c0047	a0001c0012t0001 a0001c0021t0001 a0001c0038t0001 others(2): Show a0001c0012t0001 a0001c0021t0001 a0001c0038t0001 a0001c0046t0001 a0001c0047t0001	a0001c0012t0001g0037 a0001c0012t0001g0038 a0001c0012t0001g0039 others(10): Show a0001c0012t0001g0037 a0001c0012t0001g0038 a0001c0012t0001g0039 a0001c0012t0001g0040 a0001c0012t0001g0379 a0001c0021t0001g0259 a0001c0021t0001g0263 a0001c0021t0001g0264 a0001c0021t0001g0265 a0001c0038t0001g0266 a0001c0038t0001g0267 a0001c0046t0001g0378 a0001c0047t0001g0281	13	396	0.0328	-58	c.717 others(73): Show c.717+887_717+944delTCTTTCTTTCTTTCTTTCTTTCTTTCTCTT TCTTTCTTCCTTCCTTCCTTCCTTCCTT	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC35A1_chr6_87467974_87517336	87516306	CACCACCC others(51): Show CACCACCCCGAAAATAAGTTTAAATGCCTCAGTACATGGCAAACAGGTTT ATACACGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0187 a0001c0001t0010g0187	1	398	0.0025	-58	c.47 others(69): Show c.4781_*4838delACCACCCCGAAAATAAGTTTAAATGCCTCAGTAC ATGGCAAACAGGTTTATACACGCT	SLC35A1	ENSG00000164414.19	transcript	ENST00000369552.9	protein_coding		3971		chr6	TogoVar
SLC35F1_chr6_117902264_118322671	117924180	CACACATA others(51): Show CACACATAGGTACACATGCATATGTATATACACACATAGGTACACATGCA TATGTATAT	C C	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	182	0.0055	-58	c.173 others(77): Show c.173+16287_173+16344delTAGGTACACATGCATATGTATATACA CACATAGGTACACATGCATATGTATATACACA	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC44A1_chr9_105239651_105402346	105351558	GAGAAAGA others(51): Show GAGAAAGAGAGAAAGAGAGAAAGAGAGAAAGAGAGAAAGAGAAAGAAAGA AAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0043 a0002c0002t0043	a0002c0002t0043g0121 a0002c0002t0043g0121	1	142	0.0070	-58	c.500 others(75): Show c.500+3119_500+3176delAAGAGAGAAAGAGAGAAAGAGAGAAAGA GAAAGAAAGAAAGAAAGAAAGAAAGAGAGA	SLC44A1	ENSG00000070214.17	transcript	ENST00000374720.8	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
SLC5A1_chr22_32038261_32118029	32049110	ATAATCAT others(51): Show ATAATCATTATATATATATAATCATTATATATATATAATCTATATTATAT ATAATCTAT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	252	0.0040	-58	c.136 others(73): Show c.136-832_136-775delTAATCATTATATATATATAATCATTATATA TATATAATCTATATTATATATAATCTAT	SLC5A1	ENSG00000100170.10	transcript	ENST00000266088.9	protein_coding	1/14			chr22	TogoVar
SLC7A1_chr13_29504414_29600688	29558512	AGGGGGAG others(51): Show AGGGGGAGAGAATGTGAATGAGGGGGAGAGAATGTGAGTGATGGGGAGAG AATGTGAGT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG03130.hp1 NA20300.hp1 HG00597.hp2 HG03130.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0014 a0002c0007t0016 a0001c0001t0014 a0002c0007t0016	a0001c0001t0014g0250 a0002c0007t0016g0005 a0001c0001t0014g0250 a0002c0007t0016g0005	3	330	0.0091	-58	c.-11 others(77): Show c.-114-4710_-114-4653delACTCACATTCTCTCCCCATCACTCAC ATTCTCTCCCCCTCATTCACATTCTCTCCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29558672	AGGGGGAG others(51): Show AGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATCTGAATGAGGGGGGAGT GAATGTGAG	A A	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0083 a0001c0002t0002g0083	1	330	0.0030	-58	c.-11 others(77): Show c.-114-4870_-114-4813delCTCACATTCACTCCCCCCTCATTCAG ATTCACTCCCCCTCACTCACATTCACTCCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLCO3A1_chr15_91848708_92170903	92047062	TATATATA others(51): Show TATATATACAAATATATATAATATATAAATATATATACAAATATATATAT AATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00673.hp1 HG01074.hp1 others(6): Show HG00642.hp1 HG00673.hp1 HG01074.hp1 HG01256.hp1 HG02257.hp2 HG02976.hp2 HG03540.hp2 HG03942.hp2 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 others(1): Show a0001c0001 a0001c0002 a0002c0005 a0002c0013	a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 others(5): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 a0001c0001t0018 a0001c0001t0020 a0001c0002t0011 a0002c0005t0043 a0002c0013t0031	a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0009g0174 others(6): Show a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0009g0174 a0001c0001t0010g0064 a0001c0001t0018g0077 a0001c0001t0020g0126 a0001c0002t0011g0141 a0002c0005t0043g0184 a0002c0013t0031g0099	9	190	0.0474	-58	c.647 others(77): Show c.647-47811_647-47754delCAAATATATATAATATATAAATATAT ATACAAATATATATATAATATATAAATATATA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD3_chr15_67060602_67200169	67115604	GCCCTCTG others(51): Show GCCCTCTGGGCCGTGATTCCCTCATCAGTAAAGCAAGGAAGATAATGTCT GGTTAACCA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 NA19043.hp2 HG01167.hp1 HG01169.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0050 a0001c0001t0001 a0001c0001t0050	a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0050g0227 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0050g0227	3	310	0.0097	-58	c.206 others(77): Show c.206+49250_207-49228delTGGGCCGTGATTCCCTCATCAGTAAA GCAAGGAAGATAATGTCTGGTTAACCACCCTC	SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMC6_chr2_17658812_17758810	17739818	TTAAACAC others(51): Show TTAAACACACACACACACACACACACAGACACACACACACACACACACAG AGAATATGG	T T	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA19006.hp1 NA19070.hp2 NA18979.hp1 NA19006.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0028 a0001c0001t0004g0033 a0001c0001t0004g0039 a0001c0001t0004g0028 a0001c0001t0004g0033 a0001c0001t0004g0039	3	254	0.0118	-58	c.239 others(75): Show c.239-1550_239-1493delCCATATTCTCTGTGTGTGTGTGTGTGTG TGTCTGTGTGTGTGTGTGTGTGTGTGTTTA	SMC6	ENSG00000163029.16	transcript	ENST00000448223.7	protein_coding	4/27			chr2	TogoVar
SMOC2_chr6_168436184_168672992	168614058	GGCCTCTT others(51): Show GGCCTCTTCACACCTACAGCCAGCACAGGGCCTCTTCATACCTACAGCCA GCACATGGA	G G	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0011 a0001c0002t0002g0011	1	180	0.0056	-58	c.907 others(75): Show c.907+5849_907+5906delCCTCTTCATACCTACAGCCAGCACATGG AGCCTCTTCACACCTACAGCCAGCACAGGG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168615066	CATACTTA others(51): Show CATACTTACAGCCGGCACAGGGCCTCTTCACACCTACAGCCAGCACAGGG GGCCTCTTT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0069 a0001c0002t0005g0069	1	180	0.0056	-58	c.907 others(75): Show c.907+6829_907+6886delTACTTACAGCCGGCACAGGGCCTCTTCA CACCTACAGCCAGCACAGGGGGCCTCTTTA	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMYD3_chr1_245744347_246512279	246292227	TCTTAGAC others(51): Show TCTTAGACTTACTATCCAAAACACCAGTGCCTTAGACTTACTATCCAACA CACCAGTAC	T T	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0012	1	150	0.0067	-58	c.531 others(77): Show c.531+34916_531+34973delGTACTGGTGTGTTGGATAGTAAGTCT AAGGCACTGGTGTTTTGGATAGTAAGTCTAAG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNTG2_chr2_945849_1372613	1255869	TATAAATA others(51): Show TATAAATATATATATAAATATATATAAATATATATATAAATATATATATA AATATATAA	T T	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0190 a0003c0008t0001g0190	1	190	0.0053	-58	c.100 others(77): Show c.1006-3497_1006-3440delAATATATATATAAATATATATAAATA TATATATAAATATATATATAAATATATAAATA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX16_chr8_81794583_81847185	81842525	AAAGAGAA others(51): Show AAAGAGAAAGAAAACGAGCGAGGGAGAGAGCGAGAGCGAGAGAGAGAGAG AGAGAGCGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0164 a0001c0001t0002g0164	1	306	0.0033	-58	c.-55 others(67): Show c.-558_-501delACGCTCTCTCTCTCTCTCTCTCGCTCTCGCTCTCTC CCTCGCTCGTTTTCTTTCTCTT	SNX16	ENSG00000104497.15	transcript	ENST00000345957.9	protein_coding		341		chr8	TogoVar
SNX16_chr8_81794583_81847185	81842528	GAGAAAGA others(51): Show GAGAAAGAAAACGAGCGAGGGAGAGAGCGAGAGCGAGAGAGAGAGAGAGA GAGCGTCAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0011 a0001c0002t0003g0011	1	306	0.0033	-58	c.-56 others(67): Show c.-561_-504delGTGACGCTCTCTCTCTCTCTCTCTCGCTCTCGCTCT CTCCCTCGCTCGTTTTCTTTCT	SNX16	ENSG00000104497.15	transcript	ENST00000345957.9	protein_coding		344		chr8	TogoVar
SOGA1_chr20_36772447_36868538	36858335	CACACACA others(51): Show CACACACACACACACACTGGCTGCACTTCACTCACATCTAGAATCACCAA GGAGGGAAA	C C	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0005 a0005	a0005c0021 a0005c0021	a0005c0021t0015 a0005c0021t0015	a0005c0021t0015g0276 a0005c0021t0015g0276	1	282	0.0036	-58	c.687 others(75): Show c.687+4265_687+4322delTTTCCCTCCTTGGTGATTCTAGATGTGA GTGAAGTGCAGCCAGTGTGTGTGTGTGTGT	SOGA1	ENSG00000149639.15	transcript	ENST00000237536.9	protein_coding	1/14			chr20	TogoVar
SON_chr21_33538038_33582481	33577604	TACACACA others(51): Show TACACACACACACACACACACACACACACACACACACACACACACACACA CACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG02083.hp1 HG02738.hp1 others(5): Show HG00280.hp2 HG02083.hp1 HG02738.hp1 HG04184.hp1 NA18951.hp1 NA18967.hp2 NA18977.hp1 NA20752.hp2	a0003 a0018 a0003 a0018	a0003c0004 a0018c0032 a0003c0004 a0018c0032	a0003c0004t0001 a0018c0032t0001 a0003c0004t0001 a0018c0032t0001	a0003c0004t0001g0009 a0003c0004t0001g0193 a0003c0004t0001g0210 others(4): Show a0003c0004t0001g0009 a0003c0004t0001g0193 a0003c0004t0001g0210 a0003c0004t0001g0216 a0003c0004t0001g0217 a0003c0004t0001g0220 a0018c0032t0001g0009	8	364	0.0220	-58	c.11 others(69): Show c.1181_*1238delACACACACACACACACACACACACACACACACAC ACACACACACACACACACACACAC	SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding		124		chr21	TogoVar
SORCS2_chr4_7187538_7747827	7441939	CCCTCCCC others(51): Show CCCTCCCCCAGCCCAGATCACCCTCCACCCCCTCCCCCAGCCCAGATCAC CCTCCACCT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01175.hp2 HG01884.hp2 others(16): Show HG00639.hp1 HG01175.hp2 HG01884.hp2 HG02258.hp2 HG02615.hp2 HG02647.hp2 HG02717.hp2 HG02809.hp2 HG02886.hp2 HG02922.hp1 HG03017.hp2 HG03453.hp1 HG03471.hp2 HG03492.hp2 HG03540.hp1 HG04115.hp2 HG06807.hp1 NA18522.hp2 NA19066.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0013 a0015	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0010 a0001c0029 a0001c0033 a0001c0038 a0002c0004 a0004c0043 a0013c0055 a0015c0054	a0001c0001t0004 a0001c0001t0018 a0001c0002t0004 others(15): Show a0001c0001t0004 a0001c0001t0018 a0001c0002t0004 a0001c0002t0011 a0001c0002t0035 a0001c0003t0015 a0001c0005t0001 a0001c0005t0042 a0001c0006t0017 a0001c0010t0027 a0001c0010t0073 a0001c0029t0074 a0001c0033t0075 a0001c0038t0038 a0002c0004t0014 a0004c0043t0037 a0013c0055t0048 a0015c0054t0022	a0001c0001t0004g0138 a0001c0001t0018g0099 a0001c0002t0004g0028 others(16): Show a0001c0001t0004g0138 a0001c0001t0018g0099 a0001c0002t0004g0028 a0001c0002t0011g0112 a0001c0002t0035g0090 a0001c0003t0015g0034 a0001c0003t0015g0140 a0001c0005t0001g0156 a0001c0005t0042g0157 a0001c0006t0017g0117 a0001c0010t0027g0105 a0001c0010t0073g0167 a0001c0029t0074g0162 a0001c0033t0075g0160 a0001c0038t0038g0128 a0002c0004t0014g0110 a0004c0043t0037g0058 a0013c0055t0048g0150 a0015c0054t0022g0113	19	168	0.1131	-58	c.548 others(77): Show c.548+45589_548+45646delCCCCAGCCCAGATCACCCTCCACCCC CTCCCCCAGCCCAGATCACCCTCCACCTCCTC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7442283	CACCCCCT others(51): Show CACCCCCTCCCTGAGCCCAGATCACCCTCCACCCCCTCCCCCATCCCAGA TCACCCTCT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00642.hp2 HG00733.hp1 others(23): Show HG00438.hp2 HG00642.hp2 HG00733.hp1 HG01109.hp1 HG01123.hp2 HG01243.hp1 HG01261.hp2 HG01361.hp1 HG01884.hp1 HG01891.hp2 HG01981.hp1 HG02055.hp2 HG02056.hp1 HG02257.hp2 HG02293.hp1 HG02451.hp1 HG02572.hp1 HG02622.hp2 HG02922.hp2 HG03209.hp1 HG03492.hp1 HG03579.hp2 HG03688.hp2 HG03942.hp2 NA19043.hp2 NA20300.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0036 a0001c0048 a0001c0051 a0002c0004 a0003c0035 a0003c0042 a0004c0007 a0005c0021 a0005c0022 a0006c0008 a0007c0027	a0001c0001t0003 a0001c0001t0012 a0001c0001t0017 others(22): Show a0001c0001t0003 a0001c0001t0012 a0001c0001t0017 a0001c0001t0020 a0001c0001t0069 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0054 a0001c0002t0061 a0001c0003t0008 a0001c0003t0022 a0001c0036t0044 a0001c0048t0001 a0001c0051t0001 a0002c0004t0014 a0002c0004t0024 a0003c0035t0007 a0003c0042t0003 a0004c0007t0001 a0005c0021t0070 a0005c0022t0039 a0006c0008t0001 a0006c0008t0013 a0007c0027t0002	a0001c0001t0003g0048 a0001c0001t0012g0036 a0001c0001t0012g0047 others(23): Show a0001c0001t0003g0048 a0001c0001t0012g0036 a0001c0001t0012g0047 a0001c0001t0017g0003 a0001c0001t0020g0052 a0001c0001t0069g0092 a0001c0002t0001g0123 a0001c0002t0002g0133 a0001c0002t0003g0131 a0001c0002t0054g0050 a0001c0002t0061g0121 a0001c0003t0008g0135 a0001c0003t0022g0043 a0001c0036t0044g0022 a0001c0048t0001g0146 a0001c0051t0001g0068 a0002c0004t0014g0083 a0002c0004t0024g0114 a0003c0035t0007g0075 a0003c0042t0003g0066 a0004c0007t0001g0026 a0005c0021t0070g0103 a0005c0022t0039g0153 a0006c0008t0001g0006 a0006c0008t0013g0155 a0007c0027t0002g0116	26	168	0.1548	-58	c.548 others(77): Show c.548+45937_548+45994delCCTGAGCCCAGATCACCCTCCACCCC CTCCCCCATCCCAGATCACCCTCTACCCCCTC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7442338	CTCTACCC others(51): Show CTCTACCCCCTCTCCCAGCCCAGGTCGTCATCCACCTCCTCTCACAGCCC AGGTCACCA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02258.hp1 NA19043.hp1 HG01884.hp2 HG02258.hp1 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0001c0033 a0003c0013 a0001c0003 a0001c0033 a0003c0013	a0001c0003t0052 a0001c0033t0075 a0003c0013t0021 a0001c0003t0052 a0001c0033t0075 a0003c0013t0021	a0001c0003t0052g0147 a0001c0033t0075g0160 a0003c0013t0021g0100 a0001c0003t0052g0147 a0001c0033t0075g0160 a0003c0013t0021g0100	3	168	0.0179	-58	c.548 others(77): Show c.548+45986_548+46043delTACCCCCTCTCCCAGCCCAGGTCGTC ATCCACCTCCTCTCACAGCCCAGGTCACCATC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7442390	GTCACCAT others(51): Show GTCACCATCCACCCCCTCCCCGAGCCCAGATCACCCTCCACCCCCTCCCC CAGCCCAGA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG00438.hp2 others(32): Show HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00733.hp1 HG01109.hp1 HG01123.hp2 HG01192.hp2 HG01243.hp1 HG01261.hp2 HG01361.hp1 HG01884.hp1 HG01891.hp2 HG01981.hp1 HG01981.hp2 HG02055.hp2 HG02056.hp1 HG02148.hp1 HG02257.hp2 HG02293.hp1 HG02451.hp1 HG02572.hp1 HG02602.hp1 HG02622.hp2 HG02922.hp2 HG03209.hp1 HG03492.hp1 HG03579.hp2 HG03688.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp1 NA18966.hp2 NA19000.hp2 NA19043.hp2 NA20300.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0011	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0026 a0001c0036 a0001c0048 a0001c0051 a0002c0004 a0003c0035 a0003c0042 a0004c0007 a0005c0021 a0005c0022 a0006c0008 a0011c0023	a0001c0001t0003 a0001c0001t0006 a0001c0001t0012 others(29): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0012 a0001c0001t0017 a0001c0001t0020 a0001c0001t0069 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0010 a0001c0002t0054 a0001c0002t0061 a0001c0003t0008 a0001c0003t0022 a0001c0006t0001 a0001c0026t0062 a0001c0036t0044 a0001c0048t0001 a0001c0051t0001 a0002c0004t0002 a0002c0004t0003 a0002c0004t0012 a0002c0004t0014 a0002c0004t0024 a0003c0035t0007 a0003c0042t0003 a0004c0007t0001 a0005c0021t0070 a0005c0022t0039 a0006c0008t0001 a0006c0008t0013 a0011c0023t0008	a0001c0001t0003g0048 a0001c0001t0003g0098 a0001c0001t0006g0111 others(32): Show a0001c0001t0003g0048 a0001c0001t0003g0098 a0001c0001t0006g0111 a0001c0001t0012g0036 a0001c0001t0012g0047 a0001c0001t0017g0003 a0001c0001t0020g0052 a0001c0001t0069g0092 a0001c0002t0001g0123 a0001c0002t0002g0133 a0001c0002t0003g0131 a0001c0002t0010g0045 a0001c0002t0054g0050 a0001c0002t0061g0121 a0001c0003t0008g0135 a0001c0003t0022g0043 a0001c0006t0001g0119 a0001c0026t0062g0049 a0001c0036t0044g0022 a0001c0048t0001g0146 a0001c0051t0001g0068 a0002c0004t0002g0127 a0002c0004t0003g0046 a0002c0004t0012g0035 a0002c0004t0014g0083 a0002c0004t0024g0057 a0002c0004t0024g0114 a0003c0035t0007g0075 a0003c0042t0003g0066 a0004c0007t0001g0026 a0005c0021t0070g0103 a0005c0022t0039g0153 a0006c0008t0001g0006 a0006c0008t0013g0155 a0011c0023t0008g0122	35	168	0.2083	-58	c.548 others(77): Show c.548+46041_548+46098delATCCACCCCCTCCCCGAGCCCAGATC ACCCTCCACCCCCTCCCCCAGCCCAGATCACC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7442411	GAGCCCAG others(51): Show GAGCCCAGATCACCCTCCACCCCCTCCCCCAGCCCAGATCACCCTCCATC CCCTCCCCC	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0075 a0001c0033t0075	a0001c0033t0075g0160 a0001c0033t0075g0160	1	168	0.0060	-58	c.548 others(77): Show c.548+46104_548+46161delTCCCCTCCCCCAGCCCAGATCACCCT CCACCCCCTCCCCCAGCCCAGATCACCCTCCA	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7449139	TCCTCTTT others(51): Show TCCTCTTTTCCCTCTCTCCCTCCCTTCCTCTTTTCCCTCTCTTCCTCCCT CCCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02572.hp1 HG01884.hp1 HG01891.hp1 HG02572.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0015 a0003c0042 a0001c0001 a0001c0015 a0003c0042	a0001c0001t0020 a0001c0015t0011 a0003c0042t0003 a0001c0001t0020 a0001c0015t0011 a0003c0042t0003	a0001c0001t0020g0052 a0001c0015t0011g0002 a0003c0042t0003g0066 a0001c0001t0020g0052 a0001c0015t0011g0002 a0003c0042t0003g0066	3	168	0.0179	-58	c.548 others(77): Show c.548+52789_548+52846delTTTTCCCTCTCTCCCTCCCTTCCTCT TTTCCCTCTCTTCCTCCCTCCCTCCCTCCCTC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SOX5_chr12_23524504_23954670	23837779	TAAGCTAT others(51): Show TAAGCTATATTTATATTTATATAATATATAAGCTATATTTATATTTATAT AATATATAA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0181 a0001c0001t0020g0181	1	212	0.0047	-58	c.481 others(75): Show c.481+8146_481+8203delTTATATATTATATAAATATAAATATAGC TTATATATTATATAAATATAAATATAGCTT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SPATA31C2_chr9_88124305_88143475	88127875	GCACCCTG others(51): Show GCACCCTGGCCGAGTGATGCGGTCACTCCCTGGGGGACTTCCGTCGGGCC CCAGCCACC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	446	0.0022	-58	c.16 others(69): Show c.1699_*1756delGGTGGCTGGGGCCCGACGGAAGTCCCCCAGGGAG TGACCGCATCACTCGGCCAGGGTG	SPATA31C2	ENSG00000177910.9	transcript	ENST00000324915.6	protein_coding		1429		chr9	TogoVar
SPEN_chr1_15842707_15945456	15940481	TGGGTGGG others(51): Show TGGGTGGGAGGACGAACCATGGGTCCTTGGCTTATGGGAACAGTCAGCCC TCATCCCGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0150 a0003c0003t0001g0150	1	304	0.0033	-58	c.10 others(69): Show c.1055_*1112delGGGTGGGAGGACGAACCATGGGTCCTTGGCTTAT GGGAACAGTCAGCCCTCATCCCGC	SPEN	ENSG00000065526.13	transcript	ENST00000375759.8	protein_coding		26		chr1	TogoVar
SPG7_chr16_89503403_89562766	89524249	TGAGTGAG others(51): Show TGAGTGAGGGTGCGGGAGGCCTGTGAGTGAGGGTGTGGGCACAGGCTGGC AGCCTGTGA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	358	0.0028	-58	c.618 others(71): Show c.618+11_618+68delGTGCGGGAGGCCTGTGAGTGAGGGTGTGGGCA CAGGCTGGCAGCCTGTGAGAGTGAGG	SPG7	ENSG00000197912.16	transcript	ENST00000645818.2	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPNS3_chr17_4428940_4493204	4459825	CAAGATAT others(51): Show CAAGATATATAAGTATTGTGAATTTTATTGTAAAATTCAGAGTATTTCAG ATAATAATA	C C	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	362	0.0028	-58	c.111 others(77): Show c.1113+6624_1113+6681delATATATAAGTATTGTGAATTTTATTG TAAAATTCAGAGTATTTCAGATAATAATAAAG	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPRED2_chr2_65305851_65437599	65434666	GAAAGTAC others(51): Show GAAAGTACTAAGCAAAGGCAAGATCTCATTGTCTTCCAAATCCTCAGATG GCTAAGGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0154 a0001c0002t0001g0154	1	276	0.0036	-58	c.-27 others(69): Show c.-2737_-2680delTTCCTTAGCCATCTGAGGATTTGGAAGACAATGA GATCTTGCCTTTGCTTAGTACTTT	SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding		2068		chr2	TogoVar
SRGAP2C_chr1_121179975_121397874	121239224	ATATACTA others(51): Show ATATACTATATATATATATATACTATATATATATATATATATACTATATA TATATATAC	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0009 a0009	a0009c0007 a0009c0007	a0009c0007t0052 a0009c0007t0052	a0009c0007t0052g0273 a0009c0007t0052g0273	1	274	0.0037	-58	c.68- others(75): Show c.68-45574_68-45517delCTATATATATATATATACTATATATATA TATATATATACTATATATATATATACTATA	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2_chr1_206198541_206469436	206372906	TCTTTCTT others(51): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00738.hp1 HG00738.hp2 others(13): Show HG00280.hp1 HG00738.hp1 HG00738.hp2 HG01261.hp2 HG01978.hp1 HG01978.hp2 HG03139.hp1 NA18954.hp1 NA18959.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA19060.hp1 NA19064.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0002t0015 a0001c0002t0024 others(2): Show a0001c0002t0002 a0001c0002t0015 a0001c0002t0024 a0001c0004t0003 a0001c0004t0033	a0001c0002t0002g0011 a0001c0002t0002g0012 a0001c0002t0002g0013 others(13): Show a0001c0002t0002g0011 a0001c0002t0002g0012 a0001c0002t0002g0013 a0001c0002t0002g0016 a0001c0002t0002g0023 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0099 a0001c0002t0002g0109 a0001c0002t0015g0020 a0001c0002t0024g0086 a0001c0004t0003g0044 a0001c0004t0003g0054 a0001c0004t0003g0062 a0001c0004t0003g0066 a0001c0004t0033g0092	16	182	0.0879	-58	c.424 others(77): Show c.424-11055_424-10998delTCTTTCCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	SRGAP2	ENSG00000266028.8	transcript	ENST00000573034.8	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
SSTR3_chr22_37199237_37217477	37216741	ATGTCTTC others(51): Show ATGTCTTCCTTTTTGATGTTTTACTCTCTCATTTTATGGGGGCCTTGGGG TTTTTTTGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	1	416	0.0024	-58	c.-50 others(69): Show c.-5011_-4954delACAAAAAAACCCCAAGGCCCCCATAAAATGAGAG AGTAAAACATCAAAAAGGAAGACA	SSTR3	ENSG00000278195.2	transcript	ENST00000610913.2	protein_coding		4265		chr22	TogoVar
ST6GALNAC3_chr1_76069746_76639603	76277557	TATATATA others(51): Show TATATATATATACACACACACATATGTTTATGTGTATATATATATATATA TATATACAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0079 a0002c0002t0001g0079	1	102	0.0098	-58	c.19- others(75): Show c.19-36246_19-36189delTATATATATACACACACACATATGTTTA TGTGTATATATATATATATATATATACACA	ST6GALNAC3	ENSG00000184005.12	transcript	ENST00000328299.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
STAG1_chr3_136331236_136757378	136714958	TATATATT others(51): Show TATATATTTTATATATATATTTTTATATATATATTTTATATATATAATAT ATATATAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG01074.hp2 others(8): Show HG00099.hp2 HG00639.hp2 HG01074.hp2 HG01256.hp2 HG01261.hp2 HG03669.hp1 HG03927.hp2 HG04184.hp2 NA18973.hp1 NA19000.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0019 a0001c0001t0001 a0001c0001t0004 a0001c0001t0019	a0001c0001t0001g0114 a0001c0001t0004g0016 a0001c0001t0004g0097 others(8): Show a0001c0001t0001g0114 a0001c0001t0004g0016 a0001c0001t0004g0097 a0001c0001t0004g0098 a0001c0001t0004g0099 a0001c0001t0004g0100 a0001c0001t0004g0101 a0001c0001t0004g0102 a0001c0001t0004g0103 a0001c0001t0004g0122 a0001c0001t0019g0109	11	240	0.0458	-58	c.-84 others(77): Show c.-84+37179_-84+37236delTTTATATATATATTATATATATAAAA TATATATATAAAAATATATATATAAAATATAT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	1/33			chr3	TogoVar
STAT5B_chr17_42194177_42281391	42262769	CATATATG others(51): Show CATATATGTATATATATACACATATATATGTGTGTATATATACACACATA TATATGTGT	C C	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	260	0.0039	-58	c.-11 others(77): Show c.-11+13421_-11+13478delACACATATATATGTGTGTATATATAC ACACATATATATGTGTATATATATACATATAT	STAT5B	ENSG00000173757.11	transcript	ENST00000293328.8	protein_coding	1/18			chr17	TogoVar
STAT6_chr12_57090408_57116362	57100642	AAGAAAGA others(51): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0263 a0001c0001t0004g0263	1	368	0.0027	-58	c.151 others(75): Show c.1513-610_1513-553delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	STAT6	ENSG00000166888.12	transcript	ENST00000300134.8	protein_coding	13/21			chr12	TogoVar
STIM1_chr11_3850664_4098208	3895626	CTTTCTTT others(51): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCC TTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG03492.hp2 others(1): Show HG01256.hp1 HG01258.hp1 HG03492.hp2 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006	a0001c0001t0002g0036 a0001c0001t0004g0056 a0001c0001t0006g0246 others(1): Show a0001c0001t0002g0036 a0001c0001t0004g0056 a0001c0001t0006g0246 a0001c0001t0006g0247	4	300	0.0133	-58	c.139 others(77): Show c.139+39219_139+39276delTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTT	STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
STIM1_chr11_3850664_4098208	3895638	CTTTCTTT others(51): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCT TTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0254 a0002c0004t0003g0254	1	300	0.0033	-58	c.139 others(77): Show c.139+39231_139+39288delTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCCTTCCTTCCTTCTTTCTTTCTTT	STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
STIM1_chr11_3850664_4098208	3895705	TCTTTCTT others(51): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTCCTTCCTT CCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0225 a0001c0001t0003g0225	1	300	0.0033	-58	c.139 others(77): Show c.139+39300_139+39357delTCTTTCTTTCTTTCTTTCTTTCTTTC TTTTTCTTTCTTCCTTCCTTCCTTCCTTCCTT	STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
STK26_chrX_132018302_132080943	132044708	GATCTATA others(51): Show GATCTATATATATATTTATATATATATAGAGAGATCTATATATATATTTA TATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02818.hp1 HG02886.hp1 others(1): Show HG02809.hp2 HG02818.hp1 HG02886.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0117 a0001c0001t0004g0118 a0001c0001t0004g0119 others(1): Show a0001c0001t0004g0117 a0001c0001t0004g0118 a0001c0001t0004g0119 a0001c0001t0004g0157	4	244	0.0164	-58	c.43- others(73): Show c.43-9921_43-9864delTCTATATATATATTTATATATATATAGAGA GATCTATATATATATTTATATATATATA	STK26	ENSG00000134602.16	transcript	ENST00000394334.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
SUPT3H_chr6_44821726_45382934	45288555	ATATATAT others(51): Show ATATATATATGTATATATATATATATATGTATATATATATATGTGTATAT ATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03209.hp1 HG03516.hp2 others(5): Show HG02258.hp2 HG03209.hp1 HG03516.hp2 HG04115.hp1 HG04204.hp2 NA18978.hp1 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0014	a0001c0001t0002g0053 a0001c0001t0004g0174 a0001c0001t0004g0175 others(5): Show a0001c0001t0002g0053 a0001c0001t0004g0174 a0001c0001t0004g0175 a0001c0001t0004g0183 a0001c0001t0007g0052 a0001c0001t0010g0191 a0001c0001t0014g0261 a0001c0001t0014g0262	8	262	0.0305	-58	c.101 others(77): Show c.101+76588_101+76645delCATATATATATATACACATATATATA TATACATATATATATATATATACATATATATA	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SYNJ2_chr6_157976863_158104176	158020227	TGACTGTG others(51): Show TGACTGTGTGACCCCCACCTGCGTGACTCTGACTGTGTGACCCCCACCTG CGTGACTCC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02559.hp1 HG02717.hp1 others(6): Show HG02055.hp2 HG02559.hp1 HG02717.hp1 HG02723.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 NA19030.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0025 a0002c0027 others(1): Show a0001c0001 a0001c0025 a0002c0027 a0004c0008	a0001c0001t0002 a0001c0025t0001 a0002c0027t0028 others(1): Show a0001c0001t0002 a0001c0025t0001 a0002c0027t0028 a0004c0008t0005	a0001c0001t0002g0039 a0001c0001t0002g0165 a0001c0001t0002g0166 others(6): Show a0001c0001t0002g0039 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0170 a0001c0001t0002g0246 a0001c0001t0002g0309 a0001c0025t0001g0167 a0002c0027t0028g0169 a0004c0008t0005g0259	9	312	0.0289	-58	c.214 others(75): Show c.214+2958_214+3015delCGTGACTCTGACTGTGTGACCCCCACCT GCGTGACTCCGACTGTGTGACCCCCACCTG	SYNJ2	ENSG00000078269.15	transcript	ENST00000355585.9	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr6	TogoVar

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