Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SNTG2_chr2_945849_1372613	1094763	ATGGTAGA others(61): Show ATGGTAGAGTTACTGGCAAGGGCCAGCTTACTGGCCTGCAGGCAAAGGCC TTATAGGTGTGTCCTCATG	A A	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0174 a0002c0003t0001g0174	1	190	0.0053	-68	c.211 others(85): Show c.211-3410_211-3343delCAGCTTACTGGCCTGCAGGCAAAGGCCT TATAGGTGTGTCCTCATGTGGTAGAGTTACTGGCAAGGGC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1094865	GCTGCAGG others(61): Show GCTGCAGGCGAAGGCCTTATAGGTGTGTCCTCATATGGTAGAGTTACTGG CAAGGGCTGGCTTCCTGGA	G G	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0007 a0007	a0007c0024 a0007c0024	a0007c0024t0002 a0007c0024t0002	a0007c0024t0002g0073 a0007c0024t0002g0073	1	190	0.0053	-68	c.211 others(85): Show c.211-3274_211-3207delTGGCTTCCTGGACTGCAGGCGAAGGCCT TATAGGTGTGTCCTCATATGGTAGAGTTACTGGCAAGGGC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX16_chr8_81794583_81847185	81842516	GAGAGAGA others(61): Show GAGAGAGAGAAAGAGAAAGAAAACGAGCGAGGGAGAGAGCGAGAGCGAGA GAGAGAGAGAGAGAGCGTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG02451.hp1 HG03491.hp1 HG01106.hp2 HG02451.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0144 a0001c0001t0002g0172 a0001c0001t0002g0007 a0001c0001t0002g0144 a0001c0001t0002g0172	3	306	0.0098	-68	c.-55 others(77): Show c.-559_-492delGACGCTCTCTCTCTCTCTCTCTCGCTCTCGCTCTCT CCCTCGCTCGTTTTCTTTCTCTTTCTCTCTCT	SNX16	ENSG00000104497.15	transcript	ENST00000345957.9	protein_coding		332		chr8	TogoVar
SNX8_chr7_2246770_2319441	2315646	GCACTGCA others(61): Show GCACTGCATCCTGCATTCATTCATTCACCAACCCACTCACTGCATTCTGC ATTCATTCAGTCACTCACT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG03453.hp2 HG02723.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0005 a0001c0001t0002 a0001c0003t0005	a0001c0001t0002g0311 a0001c0003t0005g0316 a0001c0001t0002g0311 a0001c0003t0005g0316	2	370	0.0054	-68	c.-12 others(79): Show c.-1293_-1226delAGTGAGTGACTGAATGAATGCAGAATGCAGTGAG TGGGTTGGTGAATGAATGAATGCAGGATGCAGTG	SNX8	ENSG00000106266.11	transcript	ENST00000222990.8	protein_coding		1206		chr7	TogoVar
SNX8_chr7_2246770_2319441	2315709	CTCACTCA others(61): Show CTCACTCACTGCATCCTGCATTCATTCATTCACCCACTCACTCACTTACT GCATCCTACATTCATTCAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0167 a0001c0002t0004g0167	1	370	0.0027	-68	c.-13 others(79): Show c.-1356_-1289delATGAATGAATGTAGGATGCAGTAAGTGAGTGAGT GGGTGAATGAATGAATGCAGGATGCAGTGAGTGA	SNX8	ENSG00000106266.11	transcript	ENST00000222990.8	protein_coding		1269		chr7	TogoVar
SOGA1_chr20_36772447_36868538	36858325	CACACACA others(61): Show CACACACACACACACACACACACACACTGGCTGCACTTCACTCACATCTA GAATCACCAAGGAGGGAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(50): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG01081.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01258.hp2 HG01358.hp2 HG01884.hp2 HG01975.hp2 HG02027.hp1 HG02155.hp2 HG02523.hp2 HG02630.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG03098.hp2 HG03471.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG04199.hp2 NA18747.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18950.hp1 NA18953.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18973.hp2 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18983.hp1 NA18995.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19030.hp2 NA19043.hp2 NA19060.hp2 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0007 others(2): Show a0001c0001 a0001c0002 a0001c0007 a0001c0019 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0014 a0001c0001t0016 a0001c0001t0028 a0001c0001t0048 a0001c0002t0001 a0001c0002t0003 a0001c0007t0001 a0001c0019t0006 a0004c0006t0002	a0001c0001t0001g0001 a0001c0001t0001g0103 a0001c0001t0001g0107 others(50): Show a0001c0001t0001g0001 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0185 a0001c0001t0001g0224 a0001c0001t0001g0228 a0001c0001t0001g0247 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0109 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0120 a0001c0001t0002g0134 a0001c0001t0002g0143 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0183 a0001c0001t0002g0187 a0001c0001t0006g0267 a0001c0001t0014g0128 a0001c0001t0014g0184 a0001c0001t0016g0180 a0001c0001t0016g0181 a0001c0001t0028g0135 a0001c0001t0048g0119 a0001c0002t0001g0182 a0001c0002t0003g0129 a0001c0007t0001g0277 a0001c0019t0006g0186 a0004c0006t0002g0114 a0004c0006t0002g0138 a0004c0006t0002g0140 a0004c0006t0002g0153	53	282	0.1879	-68	c.687 others(85): Show c.687+4265_687+4332delTTTCCCTCCTTGGTGATTCTAGATGTGA GTGAAGTGCAGCCAGTGTGTGTGTGTGTGTGTGTGTGTGT	SOGA1	ENSG00000149639.15	transcript	ENST00000237536.9	protein_coding	1/14			chr20	TogoVar
SOGA1_chr20_36772447_36868538	36858395	CACACACA others(61): Show CACACACACACACACACACACACACACTGGCTGCACTTCACTCACATCTA GAATCACCAAGGAGGGAAA	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0110	1	282	0.0036	-68	c.687 others(85): Show c.687+4195_687+4262delTTTCCCTCCTTGGTGATTCTAGATGTGA GTGAAGTGCAGCCAGTGTGTGTGTGTGTGTGTGTGTGTGT	SOGA1	ENSG00000149639.15	transcript	ENST00000237536.9	protein_coding	1/14			chr20	TogoVar
SPAG9_chr17_50957174_51125868	51077033	TCTAGCTA others(61): Show TCTAGCTATCTAGCTATCTAGCTAGCTATCTAGCTAGCTATCTAGCTATC TAGCTAGCTATCTATCTAG	T T	intron_variant intron_variant	MODIFIER	HG03831.hp1 NA18973.hp1 HG03831.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0109 a0001c0001t0003g0161 a0001c0001t0002g0109 a0001c0001t0003g0161	2	292	0.0069	-68	c.424 others(85): Show c.424+2483_424+2550delCTAGATAGATAGCTAGCTAGATAGCTAG ATAGCTAGCTAGATAGCTAGCTAGATAGCTAGATAGCTAG	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	2/29			chr17	TogoVar
SPAST_chr2_32058556_32162637	32111082	CGTGTGTA others(61): Show CGTGTGTATAGAGTATATATACAGTATACTATATAGTGTGTATAGAGTAT ATATACAGTATACTATATA	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0253 a0001c0001t0004g0253	1	342	0.0029	-68	c.683 others(85): Show c.683-3477_683-3410delAGTATATATACAGTATACTATATAGTGT GTATAGAGTATATATACAGTATACTATATAGTGTGTATAG	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYE4_chr17_8745853_8763546	8747959	TGGTGGCA others(61): Show TGGTGGCAGGAGAAAATGAAAGGGAAGCAAGAGTGGAAACTCCTGATAAA CCCATCAGATCTGCTGAGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	418	0.0024	-68	c.42 others(79): Show c.4255_*4322delTCTCAGCAGATCTGATGGGTTTATCAGGAGTTTC CACTCTTGCTTCCCTTTCATTTTCTCCTGCCACC	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		2893		chr17	TogoVar
SPEG_chr2_219429843_219498629	219456893	TGCGAGAC others(61): Show TGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAAAGAAAAAA AAGAAAAGAAAAAAGAAAA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(121): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp2 HG01346.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01517.hp2 HG01891.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02071.hp1 HG02083.hp1 HG02148.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02683.hp1 HG02698.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03195.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03492.hp1 HG03540.hp2 HG03654.hp2 HG03688.hp2 HG03710.hp2 HG03834.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18943.hp2 NA18945.hp1 NA18950.hp2 NA18952.hp2 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18986.hp1 NA18992.hp1 NA18995.hp2 NA19003.hp1 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19054.hp1 NA19057.hp1 NA19060.hp2 NA19063.hp1 NA19065.hp2 NA19074.hp2 NA19086.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0006 a0008 a0011 a0012 a0016 a0017 a0024 a0027 a0029 a0032 a0037 a0038 a0040 a0043	a0001c0001 a0001c0037 a0001c0039 others(24): Show a0001c0001 a0001c0037 a0001c0039 a0002c0004 a0002c0017 a0002c0045 a0002c0048 a0002c0054 a0003c0011 a0003c0038 a0004c0016 a0004c0080 a0006c0007 a0006c0053 a0008c0041 a0011c0036 a0012c0018 a0016c0026 a0017c0027 a0024c0047 a0027c0035 a0029c0044 a0032c0042 a0037c0040 a0038c0043 a0040c0046 a0043c0029	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(28): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0037t0001 a0001c0039t0001 a0002c0004t0001 a0002c0004t0002 a0002c0004t0004 a0002c0017t0001 a0002c0045t0002 a0002c0048t0004 a0002c0054t0001 a0003c0011t0001 a0003c0038t0001 a0004c0016t0002 a0004c0080t0002 a0006c0007t0002 a0006c0053t0002 a0008c0041t0001 a0011c0036t0003 a0012c0018t0001 a0016c0026t0002 a0017c0027t0001 a0024c0047t0001 a0027c0035t0001 a0029c0044t0002 a0032c0042t0001 a0037c0040t0001 a0038c0043t0001 a0040c0046t0001 a0043c0029t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(110): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0125 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0186 a0001c0001t0001g0199 a0001c0001t0001g0260 a0001c0001t0001g0277 a0001c0001t0001g0280 a0001c0001t0007g0123 a0001c0001t0008g0164 a0001c0037t0001g0143 a0001c0039t0001g0141 a0002c0004t0001g0009 a0002c0004t0001g0016 a0002c0004t0002g0009 a0002c0004t0002g0029 a0002c0004t0002g0046 a0002c0004t0002g0048 a0002c0004t0002g0052 a0002c0004t0002g0055 a0002c0004t0002g0102 a0002c0004t0002g0137 a0002c0004t0002g0142 a0002c0004t0002g0145 a0002c0004t0002g0149 a0002c0004t0002g0161 a0002c0004t0002g0162 a0002c0004t0002g0171 a0002c0004t0002g0185 a0002c0004t0002g0189 a0002c0004t0002g0190 a0002c0004t0002g0270 a0002c0004t0004g0024 a0002c0004t0004g0159 a0002c0004t0004g0160 a0002c0017t0001g0126 a0002c0017t0001g0184 a0002c0045t0002g0049 a0002c0048t0004g0139 a0002c0054t0001g0198 a0003c0011t0001g0057 a0003c0011t0001g0124 a0003c0011t0001g0130 a0003c0011t0001g0157 a0003c0038t0001g0172 a0004c0016t0002g0165 a0004c0016t0002g0181 a0004c0080t0002g0036 a0006c0007t0002g0040 a0006c0007t0002g0047 a0006c0007t0002g0050 a0006c0007t0002g0059 a0006c0007t0002g0140 a0006c0007t0002g0169 a0006c0007t0002g0176 a0006c0007t0002g0178 a0006c0007t0002g0191 a0006c0053t0002g0133 a0008c0041t0001g0183 a0011c0036t0003g0138 a0012c0018t0001g0008 a0016c0026t0002g0034 a0017c0027t0001g0018 a0024c0047t0001g0017 a0027c0035t0001g0167 a0029c0044t0002g0035 a0032c0042t0001g0019 a0037c0040t0001g0037 a0038c0043t0001g0182 a0040c0046t0001g0041 a0043c0029t0002g0136	124	304	0.4079	-68	c.244 others(87): Show c.2441-4988_2441-4921delGCGAGACTCTGTCTCAAAAAAAAAAA AAAAAGAAAAGAAAAAGAAAAAAAAGAAAAGAAAAAAGAAAA	SPEG	ENSG00000072195.15	transcript	ENST00000312358.12	protein_coding	6/40			chr2	TogoVar
SRGAP2C_chr1_121179975_121397874	121239214	ATATATAT others(61): Show ATATATATATATATACTATATATATATATATACTATATATATATATATAT ATACTATATATATATATAC	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01993.hp1 HG02559.hp1 others(4): Show HG01074.hp1 HG01993.hp1 HG02559.hp1 HG03453.hp1 NA18747.hp1 NA18981.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0001 a0001c0001t0007 a0001c0001t0008	a0001c0001t0001g0147 a0001c0001t0001g0195 a0001c0001t0001g0200 others(4): Show a0001c0001t0001g0147 a0001c0001t0001g0195 a0001c0001t0001g0200 a0001c0001t0001g0209 a0001c0001t0007g0159 a0001c0001t0007g0175 a0001c0001t0008g0249	7	274	0.0256	-68	c.68- others(85): Show c.68-45574_68-45507delCTATATATATATATATACTATATATATA TATATATATACTATATATATATATACTATATATATATATA	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121396367	TCGCCGCC others(61): Show TCGCCGCCGCGGCTTTTTGCCCGCCGCGGCTTTCTGCCACACACCCGCCG CCGCGGCTTTTTGCCCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	274	0.0037	-68	c.85 others(79): Show c.8513_*8580delCGCCGCCGCGGCTTTTTGCCCGCCGCGGCTTTCT GCCACACACCCGCCGCCGCGGCTTTTTGCCCCTC	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding		3494		chr1	TogoVar
ST6GALNAC3_chr1_76069746_76639603	76277545	TATATATA others(61): Show TATATATATATATATATATATATACACACACACATATGTTTATGTGTATA TATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0060 a0002c0002t0007g0060	1	102	0.0098	-68	c.19- others(85): Show c.19-36258_19-36191delTATATATATATATATATATATACACACA CACATATGTTTATGTGTATATATATATATATATATATACA	ST6GALNAC3	ENSG00000184005.12	transcript	ENST00000328299.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
STK32B_chr4_5046480_5505989	5159642	AATGTATA others(61): Show AATGTATATGAATATATATATGAATGTATATGAATATATATATGAATATA TATGAATATATATGAATAT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0154 a0001c0009t0001g0154	1	170	0.0059	-68	c.109 others(85): Show c.109-8654_109-8587delGTATATGAATATATATATGAATGTATAT GAATATATATATGAATATATATGAATATATATGAATATAT	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STON1_chr2_48525154_48603513	48564484	TTCTTCTT others(61): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0317 a0003c0004t0004g0317	1	376	0.0027	-68	c.-47 others(87): Show c.-47-16101_-47-16034delCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
STON1_chr2_48525154_48603513	48564490	TTCTTCTT others(61): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01099.hp1 HG01192.hp1 HG01081.hp1 HG01099.hp1 HG01192.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0319 a0003c0004t0004g0328 a0003c0004t0004g0366 a0003c0004t0004g0319 a0003c0004t0004g0328 a0003c0004t0004g0366	3	376	0.0080	-68	c.-47 others(87): Show c.-47-16095_-47-16028delCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
STX12_chr1_27768219_27829443	27791864	GTCACAGC others(61): Show GTCACAGCTGCTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAG GCGAAGGTTGGAGTGAGCC	G G	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	228	0.0044	-68	c.189 others(85): Show c.189-1668_189-1601delTCACAGCTGCTTGGGAGGCTGAGGCAGG AGAATCACTTGAACCCGGGAGGCGAAGGTTGGAGTGAGCC	STX12	ENSG00000117758.14	transcript	ENST00000373943.9	protein_coding	2/8			chr1	TogoVar
STXBP2_chr19_7632110_7652873	7643583	CGACCTGG others(61): Show CGACCTGGGAGAGGAATGGAGCCTTGGAGAGGTGGGACCTGGGTGAGGGG CAGAGCCTTGGAGAGGTGG	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	428	0.0023	-68	c.110 others(85): Show c.1107+374_1107+441delACCTGGGTGAGGGGCAGAGCCTTGGAGA GGTGGGACCTGGGAGAGGAATGGAGCCTTGGAGAGGTGGG	STXBP2	ENSG00000076944.18	transcript	ENST00000221283.10	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
SVOPL_chr7_138589285_138706362	138621814	GTATCTAT others(61): Show GTATCTATGTATCTATGTATCTATCTATCTATGTATCTATCTATCTATCT ATCTATCTATCTATCTATC	G G	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19082.hp1 NA19062.hp1 NA19082.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0023 a0001c0005t0002g0308 a0001c0005t0002g0023 a0001c0005t0002g0308	2	360	0.0056	-68	c.126 others(85): Show c.1264-747_1264-680delGATAGATAGATAGATAGATAGATAGATA GATAGATACATAGATAGATAGATACATAGATACATAGATA	SVOPL	ENSG00000157703.16	transcript	ENST00000674285.1	protein_coding	13/15			chr7	TogoVar
SVOPL_chr7_138589285_138706362	138622006	GTATCTAT others(61): Show GTATCTATCTATGTATCTATCTATCTATCTATGTATCTATCTATCTATGT ATCTATCTATCTATGTATC	G G	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0237 a0001c0002t0001g0237	1	360	0.0028	-68	c.126 others(85): Show c.1264-939_1264-872delGATACATAGATAGATAGATACATAGATA GATAGATACATAGATAGATAGATAGATACATAGATAGATA	SVOPL	ENSG00000157703.16	transcript	ENST00000674285.1	protein_coding	13/15			chr7	TogoVar
SYNE3_chr14_95402266_95521650	95423824	CATGGGGA others(61): Show CATGGGGATTTGATGGGGATGAGGATTTGATGGGGATGGGGATTTGATGG GGATGGGGTTTTGATGGGG	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0027 a0001c0019t0027	a0001c0019t0027g0239 a0001c0019t0027g0239	1	384	0.0026	-68	c.272 others(87): Show c.2728-5866_2728-5799delCCCCATCAAAACCCCATCCCCATCAA ATCCCCATCCCCATCAAATCCTCATCCCCATCAAATCCCCAT	SYNE3	ENSG00000176438.13	transcript	ENST00000682763.1	protein_coding	17/17			chr14	TogoVar
SYNPO2_chr4_118883854_119066247	119007216	GTATATAT others(61): Show GTATATATATATATATATATATATATATATGTATATACATATATATATAT ATATATATATGTATATACA	G G	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03209.hp1 HG03225.hp2 HG02965.hp1 HG03209.hp1 HG03225.hp2	a0005 a0012 a0014 a0005 a0012 a0014	a0005c0009 a0012c0020 a0014c0030 a0005c0009 a0012c0020 a0014c0030	a0005c0009t0014 a0012c0020t0014 a0014c0030t0027 a0005c0009t0014 a0012c0020t0014 a0014c0030t0027	a0005c0009t0014g0309 a0012c0020t0014g0192 a0014c0030t0027g0176 a0005c0009t0014g0309 a0012c0020t0014g0192 a0014c0030t0027g0176	3	310	0.0097	-68	c.106 others(87): Show c.106-16200_106-16133delATATATATATATATATGTATATACAT ATATATATATATATATATATGTATATACATATATATATATAT	SYNPO2	ENSG00000172403.11	transcript	ENST00000307142.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
SYNPR_chr3_63273308_63621924	63313704	CATATATA others(61): Show CATATATATATATCCATATATATATATCCATATATATATATCCATATATA TATCCATATATATATCCAT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0088 a0001c0001t0003g0088	1	246	0.0041	-68	c.84+ others(85): Show c.84+34973_84+35040delATCCATATATATATATCCATATATATAT ATCCATATATATATCCATATATATATCCATATATATATAT	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYT16_chr14_61807703_62117550	61810585	CTTAACCT others(61): Show CTTAACCTCCTGGTTTGTGAGCTCCAAACAGGTTGAAGACTCCAGGGTCA TGTTTAATTCTTTTTTCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00738.hp2 HG01074.hp1 others(18): Show HG00140.hp1 HG00738.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01168.hp2 HG01255.hp1 HG02572.hp1 HG02717.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02976.hp2 HG03098.hp2 HG03490.hp1 HG03492.hp2 HG03540.hp1 HG04204.hp1 NA18972.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004 a0007c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0024 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0024 a0001c0002t0002 a0001c0002t0018 a0002c0003t0001 a0002c0003t0008 a0003c0004t0002 a0003c0004t0018 a0003c0004t0035 a0003c0004t0041 a0007c0008t0013	a0001c0001t0001g0008 a0001c0001t0001g0038 a0001c0001t0003g0033 others(18): Show a0001c0001t0001g0008 a0001c0001t0001g0038 a0001c0001t0003g0033 a0001c0001t0003g0037 a0001c0001t0003g0039 a0001c0001t0003g0048 a0001c0001t0003g0174 a0001c0001t0024g0010 a0001c0002t0002g0009 a0001c0002t0002g0011 a0001c0002t0002g0012 a0001c0002t0018g0015 a0002c0003t0001g0013 a0002c0003t0001g0016 a0002c0003t0001g0103 a0002c0003t0008g0014 a0003c0004t0002g0004 a0003c0004t0018g0049 a0003c0004t0035g0082 a0003c0004t0041g0036 a0007c0008t0013g0173	21	174	0.1207	-68	c.-25 others(79): Show c.-2549_-2482delTTAACCTCCTGGTTTGTGAGCTCCAAACAGGTTG AAGACTCCAGGGTCATGTTTAATTCTTTTTTCCT	SYT16	ENSG00000139973.18	transcript	ENST00000683842.1	protein_coding		2117		chr14	TogoVar
TAF4_chr20_61969798_62070881	61977152	GACACCGC others(61): Show GACACCGCCCAGCGGGGCACGAGCCACACACACGACACCGCCCAGCGGGG CGCGCGCCACACACACACA	G G	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	314	0.0032	-68	c.309 others(85): Show c.3091-885_3091-818delTGTGTGTGTGTGGCGCGCGCCCCGCTGG GCGGTGTCGTGTGTGTGGCTCGTGCCCCGCTGGGCGGTGT	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TBCD_chr17_82747065_82950914	82905499	GCCTGCCC others(61): Show GCCTGCCCTCCCGGCCCTGTGTGGGTGCGTGTGGGCTTCCCACAGGTCGT CCGTGTGTGCACGCCGTCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01168.hp2 HG01515.hp1 others(1): Show HG00099.hp1 HG01168.hp2 HG01515.hp1 NA20805.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0282 a0002c0003t0003g0285 a0002c0003t0003g0302 others(1): Show a0002c0003t0003g0282 a0002c0003t0003g0285 a0002c0003t0003g0302 a0002c0003t0003g0308	4	318	0.0126	-68	c.180 others(85): Show c.1805-369_1805-302delACCTGCCCTCCCGGCCCTGTGTGGGTGC GTGTGGGCTTCCCACAGGTCGTCCGTGTGTGCACGCCGTC	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	19/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCD_chr17_82747065_82950914	82905567	ACCTGCCC others(61): Show ACCTGCCCTCCCGGCCCTGTGTGGGTGCGTGTGGGCTTCCCACAGGTCGT CCGTGTGTGCACGCCGTCG	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0240 a0001c0002t0001g0240	1	318	0.0031	-68	c.180 others(85): Show c.1805-187_1805-120delTCGTCCGTGTGTGCACGCCGTCGCCTGC CCTCCCGGCCCTGTGTGGGTGCGTGTGGGCTTCCCACAGG	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	19/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TCF3_chr19_1604292_1657615	1627913	GGGGGTGA others(61): Show GGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGA AGGGGACAGCAGAGCTCAC	G G	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0047 a0001c0004t0003g0047	1	352	0.0028	-68	c.299 others(83): Show c.299-555_299-488delGTGAGCTCTGCTGTCCCCTTCCCGCCTCAT CCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1627952	ATGAGGCG others(61): Show ATGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGA CAGCAGAGCTCACAGGGGG	A A	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0238 a0001c0007t0001g0238	1	352	0.0028	-68	c.299 others(83): Show c.299-594_299-527delCCCCCTGTGAGCTCTGCTGTCCCCTTCCCG CCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCA	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628323	GGGGATGA others(61): Show GGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGA AGGGGACAGCAGAACTCAC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01070.hp1 HG01071.hp2 HG00280.hp1 HG01070.hp1 HG01071.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0001 a0001c0003t0002	a0001c0003t0001g0227 a0001c0003t0002g0001 a0001c0003t0001g0227 a0001c0003t0002g0001	3	352	0.0085	-68	c.299 others(83): Show c.299-965_299-898delGTGAGTTCTGCTGTCCCCTTCCCGCCTCAC CCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCN2_chr22_30602174_30632271	30623885	CACACATA others(61): Show CACACATATATATGTATACATATATATACACACATATATATGTATACATA TATACACACACACATATGT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0007 a0007c0007t0007	a0007c0007t0007g0081 a0007c0007t0007g0081	1	466	0.0022	-68	c.122 others(85): Show c.1222+804_1222+871delCACATATATATGTATACATATATATACA CACATATATATGTATACATATATACACACACACATATGTA	TCN2	ENSG00000185339.10	transcript	ENST00000215838.8	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCTN1_chr12_110609129_110654430	110629253	AATTAAAC others(61): Show AATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTATCATCAGAGTGA ACGTGTGACCTACAGAATG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	284	0.0035	-68	c.624 others(83): Show c.624+336_624+403delATTAAACTAAAGAGCTTCTGCACAGCAAAA GAAACTATCATCAGAGTGAACGTGTGACCTACAGAATG	TCTN1	ENSG00000204852.17	transcript	ENST00000397659.9	protein_coding	4/14			chr12	TogoVar
TERT_chr5_1248167_1300068	1256436	GTGTACCT others(61): Show GTGTACCTGGTCTGACCCTCTGCCTGAGCCCCCCGTGTACCTCATCTCAC CCAGTGCCTGAGCCCCCCA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01891.hp2 HG01496.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0136 a0001c0001t0001g0137	2	392	0.0051	-68	c.303 others(87): Show c.3033-1093_3033-1026delTGGGGGGCTCAGGCACTGGGTGAGAT GAGGTACACGGGGGGCTCAGGCAGAGGGTCAGACCAGGTACA	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	13/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1256454	TCTGCCTG others(61): Show TCTGCCTGAGCCCCCCGTGTACCTCATCTCACCCAGTGCCTGAGCCCCCC ATGTACCTGGCCTCACCCA	T T	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0032 a0001c0002t0001g0032	1	392	0.0026	-68	c.303 others(87): Show c.3033-1111_3033-1044delTGGGTGAGGCCAGGTACATGGGGGGC TCAGGCACTGGGTGAGATGAGGTACACGGGGGGCTCAGGCAG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	13/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1256489	GTGCCTGA others(61): Show GTGCCTGAGCCCCCCATGTACCTGGCCTCACCCACTGCCTGAGCCCCCCG TGTACCTCATCTCACCCAC	G G	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0340 a0001c0003t0001g0340	1	392	0.0026	-68	c.303 others(87): Show c.3033-1146_3033-1079delGTGGGTGAGATGAGGTACACGGGGGG CTCAGGCAGTGGGTGAGGCCAGGTACATGGGGGGCTCAGGCA	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	13/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1272525	ACCATCCA others(61): Show ACCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACC ACATCAGACCCTACGACCG	A A	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	392	0.0026	-68	c.228 others(85): Show c.2287-313_2287-246delCGGTCGTAGGGTCTGATGTGGTGACTGT GGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1272787	ACATCAGA others(61): Show ACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCAC GACCGCCATCCACAGTCAC	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0329 a0001c0001t0001g0329	1	392	0.0026	-68	c.228 others(85): Show c.2287-575_2287-508delGTGACTGTGGATGGCGGTCGTGGGGTCT GATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TFAP2E_chr1_35568314_35600328	35576928	CGCGGGAC others(61): Show CGCGGGACCCCAGCGCCAGCGGGACCCCAGCGCCAGCGGGACCCCAGCGC CAGCGGGACCCCAGCGCCA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00558.hp1 others(14): Show HG00423.hp1 HG00438.hp2 HG00558.hp1 HG01243.hp1 HG02083.hp2 HG02135.hp1 HG02148.hp1 HG03239.hp1 HG03688.hp1 HG03927.hp1 HG04115.hp1 HG04115.hp2 NA18970.hp1 NA18995.hp2 NA19009.hp2 NA19079.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0002t0001	a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 others(13): Show a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0177 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0052 a0001c0001t0003g0170 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0178 a0001c0001t0010g0032 a0001c0002t0001g0270	17	370	0.0460	-68	c.562 others(85): Show c.562+1985_562+2052delACCCCAGCGCCAGCGGGACCCCAGCGCC AGCGGGACCCCAGCGCCAGCGGGACCCCAGCGCCAGCGGG	TFAP2E	ENSG00000116819.9	transcript	ENST00000373235.4	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
TFDP2_chr3_141939428_142154544	141968837	CATATATA others(61): Show CATATATATAGATATATATAACATATATATCTCATATATATAGATATATA TAACACATATATATCTCAT	C C	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03654.hp2 HG03710.hp1 HG02738.hp2 HG03654.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0033 a0001c0001t0035 a0001c0001t0002 a0001c0001t0033 a0001c0001t0035	a0001c0001t0002g0207 a0001c0001t0033g0091 a0001c0001t0035g0090 a0001c0001t0002g0207 a0001c0001t0033g0091 a0001c0001t0035g0090	3	252	0.0119	-68	c.732 others(85): Show c.732+1168_732+1235delATGAGATATATATGTGTTATATATATCT ATATATATGAGATATATATGTTATATATATCTATATATAT	TFDP2	ENSG00000114126.18	transcript	ENST00000489671.6	protein_coding	9/12			chr3	TogoVar
THOC1_chr18_209520_273047	242202	CGTGGTGG others(61): Show CGTGGTGGCTCACGCCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGC AGATCACCTGAGGCTGCGA	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	376	0.0027	-68	c.918 others(85): Show c.918+4054_918+4121delTCGCAGCCTCAGGTGATCTGCCTGCCTC AGCCTTCCAAAGTGCAGGGATTACAGGCGTGAGCCACCAC	THOC1	ENSG00000079134.13	transcript	ENST00000261600.11	protein_coding	11/20			chr18	TogoVar
TIAM1_chr21_31113418_31349261	31210693	GAAAGAAA others(61): Show GAAAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAAAGAGAAAGAAGGAAG GAAGGGAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0068 a0001c0001t0006g0068	1	212	0.0047	-68	c.221 others(85): Show c.2218-546_2218-479delTTTCTTTCTTTCTCCCTTCCTTCCTTCT TTCTCTTTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTTT	TIAM1	ENSG00000156299.15	transcript	ENST00000541036.6	protein_coding	10/27			chr21	TogoVar
TIAM2_chr6_154990315_155262723	155027329	ATATATAT others(61): Show ATATATATAATATATATACTGTGTTACATATATACTATATATAATATATA TACTGTGTTACATATATAC	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02280.hp2 HG02109.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0010 a0001c0004t0002 a0001c0002t0010 a0001c0004t0002	a0001c0002t0010g0059 a0001c0004t0002g0029 a0001c0002t0010g0059 a0001c0004t0002g0029	2	230	0.0087	-68	c.-20 others(89): Show c.-209+31971_-209+32038delTACTATATATAATATATATACTGT GTTACATATATACTATATATAATATATATACTGTGTTACATATA	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
TIAM2_chr6_154990315_155262723	155027491	CATATATA others(61): Show CATATATACTATATATAATATATATACTGTGTTACATATACTATATATAA TATATATACTGTGTTACAT	C C	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA19043.hp1 homoSapiens_chm13v2.hp1 HG02135.hp2 NA19043.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0023 a0001 a0003 a0023	a0001c0001 a0003c0040 a0023c0049 a0001c0001 a0003c0040 a0023c0049	a0001c0001t0019 a0003c0040t0002 a0023c0049t0001 a0001c0001t0019 a0003c0040t0002 a0023c0049t0001	a0001c0001t0019g0214 a0003c0040t0002g0006 a0023c0049t0001g0035 a0001c0001t0019g0214 a0003c0040t0002g0006 a0023c0049t0001g0035	3	230	0.0130	-68	c.-20 others(89): Show c.-209+32005_-209+32072delTACTATATATAATATATATACTGT GTTACATATACTATATATAATATATATACTGTGTTACATATATA	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
TIAM2_chr6_154990315_155262723	155027546	ATACTGTG others(61): Show ATACTGTGTTACATATATACTATATATAATATATGTACTGTGTTACATAT ATACTATATATAATATATG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 NA19043.hp2 HG00099.hp2 NA19043.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0012 a0001c0001 a0005c0012	a0001c0001t0013 a0005c0012t0018 a0001c0001t0013 a0005c0012t0018	a0001c0001t0013g0219 a0005c0012t0018g0213 a0001c0001t0013g0219 a0005c0012t0018g0213	2	230	0.0087	-68	c.-20 others(89): Show c.-209+32266_-209+32333delTTACATATATACTATATATAATAT ATGTACTGTGTTACATATATACTATATATAATATATGTACTGTG	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
TMCO3_chr13_113486021_113555229	113512729	GGAGTGTA others(61): Show GGAGTGTAGACGGAGAGAGTCAGTATATATAGATTTGGAGCCCCAGGTGC TGGGACTGGAAGGGGGCCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00438.hp2 others(61): Show HG00099.hp2 HG00408.hp1 HG00438.hp2 HG00621.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01255.hp2 HG01261.hp1 HG01346.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02015.hp1 HG02071.hp1 HG02080.hp2 HG02135.hp1 HG02148.hp2 HG02165.hp1 HG02273.hp1 HG02615.hp1 HG02698.hp1 HG02738.hp2 HG02922.hp1 HG02965.hp1 HG03017.hp2 HG03195.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp2 HG03654.hp1 HG03704.hp2 HG03927.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 NA18522.hp1 NA18612.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp2 NA18946.hp1 NA18948.hp2 NA18950.hp1 NA18953.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18969.hp1 NA18972.hp2 NA18977.hp1 NA18987.hp2 NA18995.hp2 NA18997.hp1 NA18999.hp2 NA19001.hp1 NA19004.hp1 NA19066.hp1 NA19090.hp2	a0002 a0011 a0002 a0011	a0002c0003 a0002c0004 a0002c0019 others(1): Show a0002c0003 a0002c0004 a0002c0019 a0011c0020	a0002c0003t0003 a0002c0004t0005 a0002c0019t0003 others(1): Show a0002c0003t0003 a0002c0004t0005 a0002c0019t0003 a0011c0020t0003	a0002c0003t0003g0005 a0002c0003t0003g0020 a0002c0003t0003g0021 others(58): Show a0002c0003t0003g0005 a0002c0003t0003g0020 a0002c0003t0003g0021 a0002c0003t0003g0255 a0002c0003t0003g0256 a0002c0003t0003g0257 a0002c0003t0003g0258 a0002c0003t0003g0259 a0002c0003t0003g0260 a0002c0003t0003g0261 a0002c0003t0003g0262 a0002c0003t0003g0263 a0002c0003t0003g0264 a0002c0003t0003g0265 a0002c0003t0003g0266 a0002c0003t0003g0267 a0002c0003t0003g0268 a0002c0003t0003g0269 a0002c0003t0003g0270 a0002c0003t0003g0271 a0002c0003t0003g0272 a0002c0003t0003g0273 a0002c0003t0003g0274 a0002c0003t0003g0275 a0002c0003t0003g0276 a0002c0003t0003g0277 a0002c0003t0003g0278 a0002c0003t0003g0279 a0002c0003t0003g0280 a0002c0003t0003g0281 a0002c0003t0003g0282 a0002c0003t0003g0283 a0002c0003t0003g0284 a0002c0003t0003g0285 a0002c0003t0003g0286 a0002c0003t0003g0288 a0002c0003t0003g0289 a0002c0003t0003g0290 a0002c0003t0003g0291 a0002c0003t0003g0292 a0002c0003t0003g0293 a0002c0003t0003g0294 a0002c0003t0003g0295 a0002c0003t0003g0296 a0002c0003t0003g0297 a0002c0003t0003g0298 a0002c0003t0003g0299 a0002c0003t0003g0300 a0002c0004t0005g0318 a0002c0004t0005g0319 a0002c0004t0005g0320 a0002c0004t0005g0321 a0002c0004t0005g0322 a0002c0004t0005g0323 a0002c0004t0005g0324 a0002c0004t0005g0325 a0002c0004t0005g0326 a0002c0004t0005g0327 a0002c0004t0005g0328 a0002c0019t0003g0287 a0011c0020t0003g0005	64	368	0.1739	-68	c.122 others(87): Show c.1225+2322_1225+2389delAGTCAGTATATATAGATTTGGAGCCC CAGGTGCTGGGACTGGAAGGGGGCCAGAGTGTAGACGGAGAG	TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
TMEM132D_chr12_129066726_129909025	129088284	TCTATGAC others(61): Show TCTATGACCGGGTGTCCTCCATGACCGGGTGTCCTCCCTGACCGGGGTGT CCTCTATGACCGGGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0056 a0001c0001t0005g0056	1	94	0.0106	-68	c.144 others(87): Show c.1444-3650_1444-3583delGGACACCCGGTCATAGAGGACACCCC GGTCAGGGAGGACACCCGGTCATGGAGGACACCCGGTCATAG	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	5/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129088884	GGGTGTCC others(61): Show GGGTGTCCTCCCTGACCGGGTGTCCTCCATGACCGGGATGTCCTCCATGA CCGGGTGTCCTCCATGACC	G G	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0062 a0001c0014t0001g0062	1	94	0.0106	-68	c.144 others(87): Show c.1444-4250_1444-4183delGGTCATGGAGGACACCCGGTCATGGA GGACATCCCGGTCATGGAGGACACCCGGTCAGGGAGGACACC	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	5/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129499957	ATTCACCT others(61): Show ATTCACCTGACCTCATCTGTCCCCCATCAGTCAGTTACCTCCAACAAATA CCCCTGAGTGGGGAGGCAG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0050 a0001c0001t0003g0050	1	94	0.0106	-68	c.111 others(89): Show c.1115+31034_1115+31101delCTGCCTCCCCACTCAGGGGTATTT GTTGGAGGTAACTGACTGATGGGGGACAGATGAGGTCAGGTGAA	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	3/8			chr12	TogoVar
TMEM156_chr4_38961744_39037409	38992667	TATATATA others(61): Show TATATATATAATATATTATATAATATATTATATAATATATATATATTATA TATATATAATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(153): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01081.hp2 HG01192.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01934.hp2 HG01952.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02698.hp1 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp2 HG03195.hp1 HG03225.hp1 HG03491.hp1 HG03492.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18747.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18974.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19081.hp1 NA19082.hp1 NA19083.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19091.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0009 a0002c0002 others(2): Show a0001c0001 a0001c0009 a0002c0002 a0002c0007 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0016 a0001c0009t0001 a0001c0009t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0007t0001 a0002c0007t0003 a0003c0004t0001 a0003c0004t0002 a0003c0004t0003	a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0026 others(151): Show a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0081 a0001c0001t0001g0105 a0001c0001t0001g0120 a0001c0001t0001g0138 a0001c0001t0001g0276 a0001c0001t0001g0309 a0001c0001t0001g0316 a0001c0001t0001g0335 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0369 a0001c0001t0002g0020 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0076 a0001c0001t0002g0099 a0001c0001t0002g0112 a0001c0001t0002g0313 a0001c0001t0002g0345 a0001c0001t0003g0033 a0001c0001t0003g0035 a0001c0001t0003g0067 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0004g0045 a0001c0001t0004g0068 a0001c0001t0004g0069 a0001c0001t0004g0095 a0001c0001t0005g0267 a0001c0001t0006g0314 a0001c0001t0016g0106 a0001c0009t0001g0066 a0001c0009t0003g0071 a0002c0002t0001g0012 a0002c0002t0001g0022 a0002c0002t0001g0030 a0002c0002t0001g0034 a0002c0002t0001g0036 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0049 a0002c0002t0001g0063 a0002c0002t0001g0077 a0002c0002t0001g0079 a0002c0002t0001g0096 a0002c0002t0001g0101 a0002c0002t0001g0104 a0002c0002t0001g0126 a0002c0002t0001g0131 a0002c0002t0001g0134 a0002c0002t0001g0137 a0002c0002t0001g0142 a0002c0002t0001g0145 a0002c0002t0001g0148 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0181 a0002c0002t0001g0199 a0002c0002t0001g0219 a0002c0002t0001g0227 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0259 a0002c0002t0001g0262 a0002c0002t0001g0266 a0002c0002t0001g0268 a0002c0002t0001g0277 a0002c0002t0001g0280 a0002c0002t0001g0281 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0291 a0002c0002t0001g0308 a0002c0002t0001g0336 a0002c0002t0001g0350 a0002c0002t0001g0365 a0002c0002t0002g0002 a0002c0002t0002g0048 a0002c0002t0002g0059 a0002c0002t0002g0078 a0002c0002t0002g0082 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0108 a0002c0002t0002g0116 a0002c0002t0002g0125 a0002c0002t0002g0135 a0002c0002t0002g0141 a0002c0002t0002g0183 a0002c0002t0002g0193 a0002c0002t0002g0210 a0002c0002t0002g0215 a0002c0002t0002g0237 a0002c0002t0002g0243 a0002c0002t0002g0249 a0002c0002t0002g0252 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0002g0299 a0002c0002t0002g0315 a0002c0002t0002g0326 a0002c0002t0002g0356 a0002c0002t0002g0363 a0002c0002t0002g0383 a0002c0002t0003g0043 a0002c0002t0003g0080 a0002c0002t0003g0091 a0002c0002t0003g0121 a0002c0002t0003g0128 a0002c0002t0003g0239 a0002c0002t0003g0279 a0002c0002t0003g0284 a0002c0002t0003g0325 a0002c0002t0003g0341 a0002c0002t0003g0382 a0002c0002t0004g0001 a0002c0002t0004g0005 a0002c0002t0004g0010 a0002c0002t0004g0042 a0002c0002t0004g0103 a0002c0002t0004g0123 a0002c0002t0004g0149 a0002c0002t0004g0250 a0002c0002t0004g0251 a0002c0002t0004g0257 a0002c0002t0004g0258 a0002c0002t0005g0166 a0002c0002t0005g0381 a0002c0002t0006g0018 a0002c0002t0006g0064 a0002c0007t0001g0253 a0002c0007t0003g0298 a0002c0007t0003g0344 a0003c0004t0001g0114 a0003c0004t0001g0115 a0003c0004t0001g0229 a0003c0004t0001g0230 a0003c0004t0002g0111 a0003c0004t0002g0113 a0003c0004t0002g0155 a0003c0004t0003g0016	156	386	0.4042	-68	c.619 others(85): Show c.619+1003_619+1070delTATATATATATTATATATATATAATATA TATATATTATATAATATATTATATAATATATTATATATAT	TMEM156	ENSG00000121895.8	transcript	ENST00000381938.4	protein_coding	3/6			chr4	TogoVar

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