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
STX8_chr17_9245471_9580820	9503105	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0187 a0001c0008t0002g0187	1	9	0.1111	36	c.448 others(53): Show c.448+1932_448+1933insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	5/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9504973	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0092 a0001c0010t0001g0092	1	9	0.1111	36	c.448 others(49): Show c.448+64_448+65insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	5/7			chr17	TogoVar
STXBP3_chr1_108741674_108814523	108771370	A A	ATATATAT others(29): Show ATATATATATAATATATAAATATATATGATATATATC	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02027.hp2 HG01928.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0156 a0001c0001t0002g0050 a0001c0001t0002g0156	2	332	0.0060	36	c.439 others(53): Show c.439-1249_439-1214dupAATATATAAATATATATGATATATATCT ATATATAT	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
STXBP3_chr1_108741674_108814523	108771611	G G	GATATATA others(29): Show GATATATAAATATATATGATATATATCTATATATATC	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA18522.hp2 HG03579.hp1 NA18522.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0153 a0001c0005t0002g0154 a0001c0005t0002g0153 a0001c0005t0002g0154	2	319	0.0063	36	c.439 others(53): Show c.439-1047_439-1046insAATATATATGATATATATCTATATATAT CATATATA	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
STXBP5L_chr3_120903205_121429761	121359968	A A	ATATATAA others(29): Show ATATATAATATAATATATATAATATATATATTATTAC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03139.hp1 HG03041.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0025 a0001c0001t0002g0026	2	288	0.0069	36	c.217 others(57): Show c.2177-18727_2177-18692dupATATATATATTATTACTATATAAT ATAATATATATA	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr3	TogoVar
SUCLG2_chr3_67369719_67659612	67422473	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	35	0.0286	36	c.106 others(57): Show c.1063-21623_1063-21622insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	SUCLG2	ENSG00000172340.15	transcript	ENST00000307227.10	protein_coding	9/10			chr3	TogoVar
SUCO_chr1_172528150_172616833	172607397	G G	GAATATAG others(29): Show GAATATAGTCCTTTGGAGTCTCAGTCCTTTGGACTAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02809.hp2 HG02109.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0051 a0001c0001t0002g0052	2	338	0.0059	36	c.326 others(55): Show c.3266-1349_3266-1348insATATAGTCCTTTGGAGTCTCAGTCCT TTGGACTATA	SUCO	ENSG00000094975.15	transcript	ENST00000263688.4	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
SUFU_chr10_102498972_102638535	102637787	A A	ATATATTA others(29): Show ATATATTATACATGATCATATAAAATATATAATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0016 a0001c0002t0002g0016	1	58	0.0172	36	c.76 others(47): Show c.7632_*7633insTATATTATACATGATCATATAAAATATATAATAT AT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4253		chr10	TogoVar
SUMF1_chr3_4356146_4472269	4456640	A A	ATATATAT others(29): Show ATATATATATGTGTGTGTATATATATATATATACGTG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00544.hp2 others(53): Show HG00280.hp1 HG00408.hp1 HG00544.hp2 HG00609.hp2 HG00673.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01109.hp1 HG01123.hp2 HG01261.hp2 HG01496.hp2 HG02071.hp1 HG02083.hp2 HG02135.hp1 HG02155.hp2 HG02165.hp2 HG02523.hp1 HG02559.hp2 HG02717.hp1 HG03453.hp2 HG03927.hp2 HG04228.hp2 NA18612.hp1 NA18939.hp2 NA18940.hp1 NA18943.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18964.hp1 NA18965.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18981.hp1 NA18982.hp1 NA18984.hp1 NA18991.hp2 NA18992.hp2 NA18995.hp1 NA18997.hp1 NA19005.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19070.hp2 NA19072.hp2 NA19077.hp2 NA19081.hp1 NA19085.hp1 NA19087.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0008c0012 a0001c0001 a0001c0002 a0008c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0002t0001 a0008c0012t0004	a0001c0001t0001g0320 a0001c0001t0002g0009 a0001c0001t0002g0069 others(51): Show a0001c0001t0001g0320 a0001c0001t0002g0009 a0001c0001t0002g0069 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0327 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0336 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0343 a0001c0001t0002g0345 a0001c0001t0002g0347 a0001c0001t0002g0349 a0001c0001t0002g0351 a0001c0001t0002g0352 a0001c0001t0002g0357 a0001c0001t0002g0358 a0001c0001t0002g0359 a0001c0001t0002g0366 a0001c0001t0002g0375 a0001c0001t0003g0010 a0001c0001t0003g0313 a0001c0001t0003g0315 a0001c0001t0003g0325 a0001c0001t0003g0326 a0001c0001t0003g0329 a0001c0001t0003g0335 a0001c0001t0004g0312 a0001c0001t0004g0324 a0001c0001t0004g0328 a0001c0001t0004g0338 a0001c0001t0004g0339 a0001c0001t0004g0344 a0001c0001t0004g0348 a0001c0001t0004g0374 a0001c0001t0008g0314 a0001c0001t0010g0321 a0001c0002t0001g0068 a0001c0002t0001g0316 a0001c0002t0001g0334 a0001c0002t0001g0337 a0001c0002t0001g0342 a0001c0002t0001g0346 a0001c0002t0001g0350 a0001c0002t0001g0355 a0001c0002t0001g0356 a0001c0002t0001g0361 a0008c0012t0004g0377	56	386	0.1451	36	c.271 others(53): Show c.271-3592_271-3591insCACGTATATATATATATATACACACACA TATATATA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
SUMF1_chr3_4356146_4472269	4457058	G G	GTATATAT others(29): Show GTATATATATATATATATATATACGTGTGTGTATATA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0355 a0001c0002t0001g0355	1	302	0.0033	36	c.271 others(53): Show c.271-4010_271-4009insTATATACACACACGTATATATATATATA TATATATA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
SUN1_chr7_827476_879934	847976	T T	TCCTGGGG others(29): Show TCCTGGGGGTTACTCCGCAGTCCAGTCTCCGGGATCC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02559.hp1 HG02965.hp2 others(10): Show HG02257.hp2 HG02559.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03195.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG06807.hp2 NA19043.hp2 NA20129.hp1	a0001 a0002 a0015 others(1): Show a0001 a0002 a0015 a0017	a0001c0006 a0002c0002 a0015c0028 others(1): Show a0001c0006 a0002c0002 a0015c0028 a0017c0027	a0001c0006t0001 a0002c0002t0001 a0015c0028t0001 others(1): Show a0001c0006t0001 a0002c0002t0001 a0015c0028t0001 a0017c0027t0001	a0001c0006t0001g0019 a0001c0006t0001g0045 a0001c0006t0001g0046 others(9): Show a0001c0006t0001g0019 a0001c0006t0001g0045 a0001c0006t0001g0046 a0001c0006t0001g0054 a0001c0006t0001g0055 a0001c0006t0001g0056 a0001c0006t0001g0057 a0001c0006t0001g0058 a0001c0006t0001g0102 a0002c0002t0001g0038 a0015c0028t0001g0060 a0017c0027t0001g0059	13	416	0.0313	36	c.659 others(53): Show c.659-3393_659-3358dupCGCAGTCCAGTCTCCGGGATCCCCTGGG GGTTACTC	SUN1	ENSG00000164828.18	transcript	ENST00000401592.6	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
SUN1_chr7_827476_879934	848084	T T	TCCTGGGG others(29): Show TCCTGGGGGTTACTCCACAGTACCCTCTCCGGGATCC	intron_variant intron_variant	MODIFIER	HG04199.hp1 NA20905.hp1 HG04199.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0125 a0001c0001t0001g0126	2	248	0.0081	36	c.659 others(53): Show c.659-3285_659-3284insACAGTACCCTCTCCGGGATCCCCTGGGG GTTACTCC	SUN1	ENSG00000164828.18	transcript	ENST00000401592.6	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
SUN1_chr7_827476_879934	848084	T T	TCCTGGGG others(29): Show TCCTGGGGGTTACTCCGCAGTACCCTCTCCGGGATCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00408.hp1 others(165): Show HG00099.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG02970.hp1 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04228.hp2 HG06807.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18943.hp1 NA18944.hp1 NA18947.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18957.hp1 NA18959.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp2 NA18968.hp1 NA18970.hp1 NA18971.hp1 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18982.hp1 NA18984.hp2 NA18988.hp2 NA18990.hp1 NA18993.hp2 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19057.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp2 NA19070.hp2 NA19074.hp2 NA19077.hp2 NA19080.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0005 a0007 a0009 a0010 a0014 a0021	a0001c0001 a0001c0022 a0001c0023 others(11): Show a0001c0001 a0001c0022 a0001c0023 a0001c0024 a0001c0025 a0002c0005 a0004c0007 a0005c0008 a0007c0010 a0007c0031 a0009c0013 a0010c0026 a0014c0016 a0021c0029	a0001c0001t0001 a0001c0001t0011 a0001c0001t0013 others(20): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0001t0024 a0001c0022t0001 a0001c0023t0001 a0001c0024t0001 a0001c0025t0001 a0002c0005t0001 a0004c0007t0001 a0004c0007t0004 a0005c0008t0001 a0007c0010t0001 a0007c0031t0014 a0009c0013t0001 a0010c0026t0001 a0014c0016t0001 a0021c0029t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(134): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0041 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0279 a0001c0001t0011g0167 a0001c0001t0011g0335 a0001c0001t0013g0003 a0001c0001t0013g0170 a0001c0001t0015g0115 a0001c0001t0016g0264 a0001c0001t0017g0162 a0001c0001t0019g0026 a0001c0001t0021g0121 a0001c0001t0024g0212 a0001c0022t0001g0156 a0001c0023t0001g0008 a0001c0024t0001g0154 a0001c0025t0001g0200 a0002c0005t0001g0027 a0004c0007t0001g0029 a0004c0007t0001g0145 a0004c0007t0001g0178 a0004c0007t0004g0012 a0004c0007t0004g0120 a0004c0007t0004g0146 a0004c0007t0004g0187 a0005c0008t0001g0016 a0005c0008t0001g0036 a0005c0008t0001g0266 a0007c0010t0001g0132 a0007c0010t0001g0201 a0007c0031t0014g0262 a0009c0013t0001g0124 a0009c0013t0001g0163 a0010c0026t0001g0197 a0014c0016t0001g0334 a0021c0029t0001g0141	168	414	0.4058	36	c.659 others(53): Show c.659-3279_659-3244dupACCCTCTCCGGGATCCCCTGGGGGTTAC TCCGCAGT	SUN1	ENSG00000164828.18	transcript	ENST00000401592.6	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
SUN1_chr7_827476_879934	866532	T T	TCCCCCAC others(29): Show TCCCCCACTGTCTCCCCACCATCTCCCCGGGCCTTCG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02615.hp1 HG02723.hp2 others(7): Show HG01106.hp1 HG02615.hp1 HG02723.hp2 HG02895.hp2 HG03098.hp1 HG03130.hp1 HG03669.hp2 HG03704.hp1 NA18522.hp1 NA21309.hp1	a0003 a0008 a0016 a0003 a0008 a0016	a0003c0003 a0003c0012 a0008c0011 others(1): Show a0003c0003 a0003c0012 a0008c0011 a0016c0018	a0003c0003t0001 a0003c0003t0005 a0003c0012t0005 others(2): Show a0003c0003t0001 a0003c0003t0005 a0003c0012t0005 a0008c0011t0006 a0016c0018t0006	a0003c0003t0001g0298 a0003c0003t0001g0299 a0003c0003t0001g0330 others(7): Show a0003c0003t0001g0298 a0003c0003t0001g0299 a0003c0003t0001g0330 a0003c0003t0005g0272 a0003c0003t0005g0273 a0003c0012t0005g0274 a0003c0012t0005g0275 a0008c0011t0006g0269 a0008c0011t0006g0271 a0016c0018t0006g0270	10	411	0.0243	36	c.198 others(53): Show c.1980+493_1980+494insGGCCTTCGCCCCCACTGTCTCCCCACCA TCTCCCCG	SUN1	ENSG00000164828.18	transcript	ENST00000401592.6	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
SUN1_chr7_827476_879934	866562	A A	ACCTTCGC others(29): Show ACCTTCGCCCCCACTGTCTCCCCACCATCTCCCCGGG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02622.hp2 HG02630.hp2 others(11): Show HG02071.hp1 HG02622.hp2 HG02630.hp2 HG02922.hp1 HG03516.hp2 NA18943.hp2 NA18944.hp2 NA18961.hp1 NA18967.hp2 NA18983.hp1 NA18988.hp1 NA19002.hp1 NA19068.hp1 NA19085.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0009 a0002c0002 a0006c0009	a0002c0002t0001 a0002c0002t0003 a0006c0009t0001 a0002c0002t0001 a0002c0002t0003 a0006c0009t0001	a0002c0002t0001g0078 a0002c0002t0003g0006 a0002c0002t0003g0022 others(5): Show a0002c0002t0001g0078 a0002c0002t0003g0006 a0002c0002t0003g0022 a0002c0002t0003g0085 a0002c0002t0003g0205 a0006c0009t0001g0018 a0006c0009t0001g0100 a0006c0009t0001g0101	14	129	0.1085	36	c.198 others(53): Show c.1980+599_1980+634dupCCGGGCCTTCGCCCCCACTGTCTCCCCA CCATCTCC	SUN1	ENSG00000164828.18	transcript	ENST00000401592.6	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
SUN1_chr7_827476_879934	866667	C C	CGGGCCTT others(29): Show CGGGCCTTCGCCCCCACTGTCTCCCCACCATCTCCGT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02132.hp2 HG02717.hp1 others(17): Show HG01243.hp2 HG02132.hp2 HG02717.hp1 NA18939.hp2 NA18941.hp2 NA18945.hp2 NA18947.hp1 NA18957.hp2 NA18962.hp1 NA18973.hp2 NA18978.hp2 NA18979.hp1 NA18982.hp2 NA19012.hp1 NA19055.hp2 NA19056.hp2 NA19064.hp1 NA19068.hp2 NA19080.hp2 NA19081.hp1	a0001 a0019 a0020 a0001 a0019 a0020	a0001c0004 a0001c0006 a0019c0015 others(1): Show a0001c0004 a0001c0006 a0019c0015 a0020c0014	a0001c0004t0002 a0001c0004t0008 a0001c0004t0023 others(3): Show a0001c0004t0002 a0001c0004t0008 a0001c0004t0023 a0001c0006t0012 a0019c0015t0008 a0020c0014t0002	a0001c0004t0002g0013 a0001c0004t0002g0217 a0001c0004t0002g0218 others(15): Show a0001c0004t0002g0013 a0001c0004t0002g0217 a0001c0004t0002g0218 a0001c0004t0002g0219 a0001c0004t0002g0222 a0001c0004t0002g0225 a0001c0004t0002g0229 a0001c0004t0002g0230 a0001c0004t0002g0232 a0001c0004t0002g0236 a0001c0004t0002g0238 a0001c0004t0002g0243 a0001c0004t0008g0244 a0001c0004t0023g0241 a0001c0006t0012g0043 a0001c0006t0012g0044 a0019c0015t0008g0235 a0020c0014t0002g0239	20	334	0.0599	36	c.198 others(53): Show c.1980+615_1980+650dupACTGTCTCCCCACCATCTCCGTGGGCCT TCGCCCCC	SUN1	ENSG00000164828.18	transcript	ENST00000401592.6	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
SUN1_chr7_827476_879934	866712	G G	GCCCCCAC others(29): Show GCCCCCACTGTCTCCCCACCATCTCCGTGGGCCTTCA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	77	0.0130	36	c.198 others(53): Show c.1980+650_1980+651insACTGTCTCCCCACCATCTCCGTGGGCCT TCACCCCC	SUN1	ENSG00000164828.18	transcript	ENST00000401592.6	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
SUOX_chr12_55992276_56010525	55996003	A A	ATATATAT others(29): Show ATATATATATATATATTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0024 a0001c0002t0001g0024	1	214	0.0047	36	c.-14 others(47): Show c.-1456_-1455insTATATATATATATATTTTTTTTTTTTTTTTTTTT TT	SUOX	ENSG00000139531.13	transcript	ENST00000266971.8	protein_coding		1272		chr12	TogoVar
SUPT20HL1_chrX_24355639_24372839	24360488	C C	CACACACA others(29): Show CACACACACACACACGTACACACATACACACACACTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 HG02280.hp2 HG02630.hp1 others(4): Show HG02165.hp2 HG02280.hp2 HG02630.hp1 NA18906.hp1 NA19030.hp1 NA19072.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0009 a0002c0002 a0001c0009 a0002c0002	a0001c0009t0003 a0002c0002t0003 a0001c0009t0003 a0002c0002t0003	a0001c0009t0003g0000 a0002c0002t0003g0000 a0001c0009t0003g0000 a0002c0002t0003g0000	7	279	0.0251	36	c.-22 others(47): Show c.-2273_-2272insACACACACACACACGTACACACATACACACACAC TG	SUPT20HL1	ENSG00000223731.4	transcript	ENST00000686983.1	protein_coding		150		chrX	TogoVar
SUPT3H_chr6_44821726_45382934	44928882	C C	CAAAATAA others(29): Show CAAAATAAATAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0011 a0001c0001t0005g0011	1	106	0.0094	36	c.912 others(53): Show c.912+3770_912+3771insTTTTTTTTTTTTTTTTTTTTTTTTTTTA TTTATTTT	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	10/10			chr6	TogoVar
SUPT3H_chr6_44821726_45382934	45204250	A A	AAAGAAGA others(29): Show AAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02258.hp1 HG01069.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0064 a0001c0001t0001g0065	2	8	0.2500	36	c.102 others(55): Show c.102-98245_102-98244insCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTT	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SUPT3H_chr6_44821726_45382934	45230660	G G	GCATATAT others(29): Show GCATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01192.hp2 HG00733.hp1 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0184 a0001c0001t0004g0185	2	122	0.0164	36	c.102 others(57): Show c.102-124655_102-124654insTATATATATATATATATATATATA TATATATATATG	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SUPT3H_chr6_44821726_45382934	45230660	G G	GCCTATAT others(29): Show GCCTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02922.hp2 HG01433.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0075 a0001c0001t0001g0063 a0001c0001t0001g0075	2	122	0.0164	36	c.102 others(57): Show c.102-124655_102-124654insTATATATATATATATATATATATA TATATATATAGG	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SUPT3H_chr6_44821726_45382934	45230686	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	214	0.0047	36	c.102 others(57): Show c.102-124681_102-124680insAAAATATATATATATATATATATA TATATATATATA	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SUPT3H_chr6_44821726_45382934	45253848	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	28	0.0357	36	c.101 others(57): Show c.101+111352_101+111353insATATATATATATATATATATATAT ATATATATATAT	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SUPT6H_chr17_28657205_28707679	28663828	A A	ATTTTTTT others(29): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03490.hp1 HG04184.hp1 others(1): Show HG02145.hp2 HG03490.hp1 HG04184.hp1 NA19030.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0009 a0001c0001 a0001c0003 a0003c0009	a0001c0001t0002 a0001c0003t0001 a0003c0009t0001 a0001c0001t0002 a0001c0003t0001 a0003c0009t0001	a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0003t0001g0182 others(1): Show a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0003t0001g0182 a0003c0009t0001g0183	4	6	0.6667	36	c.-32 others(53): Show c.-32+1503_-32+1504insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	SUPT6H	ENSG00000109111.15	transcript	ENST00000314616.11	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr17	TogoVar
SUPT7L_chr2_27645809_27668614	27646468	C C	CTGTATAT others(29): Show CTGTATATTCATCTTTATCCTGCTACTTTACTGAATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	364	0.0027	36	c.70 others(47): Show c.7016_*7017insAATTCAGTAAAGTAGCAGGATAAAGATGAATATA CA	SUPT7L	ENSG00000119760.16	transcript	ENST00000337768.10	protein_coding		4340		chr2	TogoVar
SURF4_chr9_133356464_133381060	133377093	T T	TTGCGGGT others(29): Show TTGCGGGTTAGATTTTTGTCACTTTGGAAGAATTGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	422	0.0024	36	c.-11 others(47): Show c.-1160_-1125dupGACAATTCTTCCAAAGTGACAAAAATCTAACCCG CA	SURF4	ENSG00000148248.14	transcript	ENST00000371989.8	protein_coding		1034		chr9	TogoVar
SUSD4_chr1_223215831_223369176	223268042	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	252	0.0040	36	c.535 others(51): Show c.535+459_535+460insGTATATATATATATATATATATATATATAT ATATAT	SUSD4	ENSG00000143502.16	transcript	ENST00000366878.9	protein_coding	4/8			chr1	TogoVar
SUSD6_chr14_69606596_69720144	69607669	G G	GTCAGATG others(29): Show GTCAGATGATCGCTACCTGGCTAAGCAGAGCTCTTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	286	0.0035	36	c.-42 others(47): Show c.-4240_-4239insTCAGATGATCGCTACCTGGCTAAGCAGAGCTCTT CA	SUSD6	ENSG00000100647.8	transcript	ENST00000342745.5	protein_coding		3926		chr14	TogoVar
SV2B_chr15_91095257_91307565	91168301	C C	CGAGAGAG others(29): Show CGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0065 a0001c0001t0003g0065	1	85	0.0118	36	c.-39 others(57): Show c.-391-57542_-391-57541insGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGA	SV2B	ENSG00000185518.12	transcript	ENST00000394232.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
SV2C_chr5_76078383_76338956	76197707	C C	CAGATAGA others(29): Show CAGATAGATAGATAGATAGATAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0131 a0001c0001t0131	a0001c0001t0131g0184 a0001c0001t0131g0184	1	3	0.3333	36	c.761 others(53): Show c.761+2637_761+2638insGATAGATAGATAGATAGATAGATAGATA GATAGATA	SV2C	ENSG00000122012.14	transcript	ENST00000502798.7	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
SVEP1_chr9_110360248_110584741	110390111	A A	ATATATAC others(29): Show ATATATACATACATACTTATATAAGTATATATACAAG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01070.hp1 HG01071.hp1 others(21): Show HG00642.hp1 HG01070.hp1 HG01071.hp1 HG01256.hp1 HG01496.hp1 HG02280.hp1 HG02559.hp2 HG02622.hp1 HG02647.hp2 HG02723.hp2 HG02738.hp2 HG02896.hp1 HG02965.hp1 HG03098.hp2 HG03195.hp2 HG03486.hp1 HG03654.hp1 HG04115.hp1 HG04184.hp1 NA18947.hp2 NA18969.hp1 NA19004.hp1 NA19005.hp1 NA19062.hp2	a0007 a0008 a0013 others(14): Show a0007 a0008 a0013 a0015 a0020 a0032 a0051 a0054 a0056 a0063 a0069 a0084 a0087 a0094 a0104 a0107 a0109	a0007c0080 a0008c0013 a0013c0014 others(16): Show a0007c0080 a0008c0013 a0013c0014 a0015c0011 a0020c0124 a0032c0134 a0051c0128 a0051c0152 a0054c0044 a0056c0130 a0056c0144 a0063c0146 a0069c0073 a0084c0140 a0087c0129 a0094c0139 a0104c0117 a0107c0069 a0109c0125	a0007c0080t0004 a0008c0013t0001 a0008c0013t0003 others(17): Show a0007c0080t0004 a0008c0013t0001 a0008c0013t0003 a0013c0014t0004 a0015c0011t0001 a0020c0124t0002 a0032c0134t0001 a0051c0128t0001 a0051c0152t0001 a0054c0044t0001 a0056c0130t0001 a0056c0144t0001 a0063c0146t0004 a0069c0073t0004 a0084c0140t0001 a0087c0129t0001 a0094c0139t0001 a0104c0117t0002 a0107c0069t0001 a0109c0125t0001	a0007c0080t0004g0122 a0008c0013t0001g0199 a0008c0013t0003g0195 others(21): Show a0007c0080t0004g0122 a0008c0013t0001g0199 a0008c0013t0003g0195 a0008c0013t0003g0196 a0013c0014t0004g0043 a0013c0014t0004g0101 a0013c0014t0004g0104 a0013c0014t0004g0105 a0015c0011t0001g0149 a0020c0124t0002g0315 a0032c0134t0001g0236 a0051c0128t0001g0036 a0051c0152t0001g0357 a0054c0044t0001g0252 a0056c0130t0001g0342 a0056c0144t0001g0337 a0063c0146t0004g0051 a0069c0073t0004g0347 a0084c0140t0001g0208 a0087c0129t0001g0213 a0094c0139t0001g0103 a0104c0117t0002g0278 a0107c0069t0001g0172 a0109c0125t0001g0141	24	331	0.0725	36	c.982 others(53): Show c.9823-560_9823-525dupCTTGTATATATACTTATATAAGTATGTA TGTATATA	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	40/47			chr9	TogoVar
SVEP1_chr9_110360248_110584741	110392133	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02630.hp1 NA18522.hp2 HG02559.hp1 HG02630.hp1 NA18522.hp2	a0020 a0081 a0102 a0020 a0081 a0102	a0020c0148 a0081c0081 a0102c0093 a0020c0148 a0081c0081 a0102c0093	a0020c0148t0004 a0081c0081t0004 a0102c0093t0004 a0020c0148t0004 a0081c0081t0004 a0102c0093t0004	a0020c0148t0004g0354 a0081c0081t0004g0124 a0102c0093t0004g0085 a0020c0148t0004g0354 a0081c0081t0004g0124 a0102c0093t0004g0085	3	219	0.0137	36	c.982 others(55): Show c.9823-2547_9823-2546insTATATATATATATATATATATATATA TATATATATA	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	40/47			chr9	TogoVar
SVEP1_chr9_110360248_110584741	110392133	T T	TTTTATAT others(29): Show TTTTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18970.hp2 HG00609.hp2 NA18970.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0293 a0002c0001t0002g0306 a0002c0001t0002g0293 a0002c0001t0002g0306	2	218	0.0092	36	c.982 others(55): Show c.9823-2547_9823-2546insTATATATATATATATATATATATATA TATATATAAA	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	40/47			chr9	TogoVar
SVEP1_chr9_110360248_110584741	110392151	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0004 a0004c0005t0004	a0004c0005t0004g0133 a0004c0005t0004g0133	1	353	0.0028	36	c.982 others(55): Show c.9823-2565_9823-2564insGATATATATATATATATATATATATA TATATATATA	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	40/47			chr9	TogoVar
SVEP1_chr9_110360248_110584741	110392151	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATCTATC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA20300.hp2 NA19240.hp1 NA20300.hp2	a0049 a0112 a0049 a0112	a0049c0047 a0112c0104 a0049c0047 a0112c0104	a0049c0047t0003 a0112c0104t0003 a0049c0047t0003 a0112c0104t0003	a0049c0047t0003g0088 a0112c0104t0003g0038 a0049c0047t0003g0088 a0112c0104t0003g0038	2	354	0.0056	36	c.982 others(55): Show c.9823-2565_9823-2564insGATAGATATATATATATATATATATA TATATATATA	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	40/47			chr9	TogoVar
SVEP1_chr9_110360248_110584741	110572789	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04204.hp1 NA18946.hp2 HG04204.hp1 NA18946.hp2	a0008 a0025 a0008 a0025	a0008c0013 a0025c0024 a0008c0013 a0025c0024	a0008c0013t0003 a0025c0024t0001 a0008c0013t0003 a0025c0024t0001	a0008c0013t0003g0040 a0025c0024t0001g0321 a0008c0013t0003g0040 a0025c0024t0001g0321	2	53	0.0377	36	c.531 others(53): Show c.531+6223_531+6224insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	1/47			chr9	TogoVar
SVOP_chr12_108902741_109026068	108903287	G G	GAGAAAGG others(29): Show GAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00639.hp2 HG00741.hp1 others(36): Show HG00544.hp2 HG00639.hp2 HG00741.hp1 HG01255.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG02083.hp2 HG02135.hp1 HG02683.hp1 HG02735.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp2 NA18612.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp2 NA18952.hp1 NA18952.hp2 NA18956.hp1 NA18960.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18988.hp1 NA18994.hp1 NA18998.hp1 NA19000.hp2 NA19011.hp1 NA19057.hp2 NA19080.hp2 NA19082.hp1 NA19091.hp1 NA19091.hp2 NA20300.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 others(9): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 a0001c0001t0019 a0001c0001t0022 a0001c0001t0044 a0001c0001t0048 a0001c0001t0050 a0001c0001t0080 a0001c0002t0002 a0001c0002t0061 a0001c0002t0064	a0001c0001t0002g0057 a0001c0001t0002g0073 a0001c0001t0002g0079 others(36): Show a0001c0001t0002g0057 a0001c0001t0002g0073 a0001c0001t0002g0079 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0129 a0001c0001t0002g0134 a0001c0001t0002g0158 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0016 a0001c0001t0003g0018 a0001c0001t0003g0022 a0001c0001t0003g0027 a0001c0001t0003g0031 a0001c0001t0003g0033 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0040 a0001c0001t0003g0044 a0001c0001t0015g0117 a0001c0001t0015g0148 a0001c0001t0019g0109 a0001c0001t0022g0092 a0001c0001t0022g0122 a0001c0001t0044g0043 a0001c0001t0048g0041 a0001c0001t0050g0051 a0001c0001t0080g0078 a0001c0002t0002g0163 a0001c0002t0002g0204 a0001c0002t0002g0223 a0001c0002t0061g0159 a0001c0002t0064g0267	39	144	0.2708	36	c.92 others(47): Show c.9247_*9248insTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTT CT	SVOP	ENSG00000166111.10	transcript	ENST00000610966.5	protein_coding		4453		chr12	TogoVar
SVOP_chr12_108902741_109026068	108903287	G G	GAGGAAGG others(29): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp2 HG02486.hp1 others(1): Show HG02280.hp1 HG02280.hp2 HG02486.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0013 a0001c0002t0013 a0001c0003t0016 a0001c0001t0013 a0001c0002t0013 a0001c0003t0016	a0001c0001t0013g0277 a0001c0001t0013g0278 a0001c0002t0013g0266 others(1): Show a0001c0001t0013g0277 a0001c0001t0013g0278 a0001c0002t0013g0266 a0001c0003t0016g0170	4	109	0.0367	36	c.92 others(47): Show c.9247_*9248insTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CT	SVOP	ENSG00000166111.10	transcript	ENST00000610966.5	protein_coding		4453		chr12	TogoVar
SWAP70_chr11_9659077_9757993	9705452	C C	CTTGGTGA others(29): Show CTTGGTGATCTGTATGCACTGGTGATATGTATATACT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03195.hp2 NA19043.hp2 HG01891.hp2 HG03195.hp2 NA19043.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0008 a0002c0001t0008	a0002c0001t0008g0095 a0002c0001t0008g0096 a0002c0001t0008g0245 a0002c0001t0008g0095 a0002c0001t0008g0096 a0002c0001t0008g0245	3	227	0.0132	36	c.241 others(53): Show c.241-8013_241-8012insTGGTGATCTGTATGCACTGGTGATATGT ATATACTT	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SWAP70_chr11_9659077_9757993	9705504	C C	CTTTGTGA others(29): Show CTTTGTGATCTGTATGCACTGGTGATCTGTGTACACT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01361.hp2 HG03516.hp1 others(1): Show HG01106.hp1 HG01361.hp2 HG03516.hp1 HG03704.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0007 a0002c0005t0007	a0002c0005t0007g0026 a0002c0005t0007g0027 a0002c0005t0007g0028 others(1): Show a0002c0005t0007g0026 a0002c0005t0007g0027 a0002c0005t0007g0028 a0002c0005t0007g0029	4	256	0.0156	36	c.241 others(53): Show c.241-7961_241-7960insTTGTGATCTGTATGCACTGGTGATCTGT GTACACTT	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SYCP1_chr1_114849863_115000370	114881501	A A	ATCCTTCC others(29): Show ATCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02451.hp1 HG02738.hp1 others(2): Show HG00738.hp2 HG02451.hp1 HG02738.hp1 HG04115.hp1 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0064 others(2): Show a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0064 a0001c0001t0001g0075 a0001c0001t0001g0096	5	82	0.0610	36	c.910 others(53): Show c.910+3305_910+3340dupCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTT	SYCP1	ENSG00000198765.12	transcript	ENST00000369522.8	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr1	TogoVar
SYK_chr9_90796819_90903549	90802815	T T	TAAAAAAA others(29): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0363 a0001c0001t0027g0363	1	4	0.2500	36	c.-42 others(51): Show c.-42+934_-42+935insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYK_chr9_90796819_90903549	90884460	T T	TACACATA others(29): Show TACACATATGTGTACATGCACATATATACACATACAC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0003 a0001c0005t0007g0003	2	294	0.0068	36	c.158 others(55): Show c.1582-3288_1582-3287insCACATATGTGTACATGCACATATATA CACATACACA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYK_chr9_90796819_90903549	90884706	C C	CATATATA others(29): Show CATATATACACATGTACACATATGTGTACGTGTACAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0142 a0001c0001t0005g0142	1	130	0.0077	36	c.158 others(55): Show c.1582-3038_1582-3037insTACACATGTACACATATGTGTACGTG TACATATATA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYK_chr9_90796819_90903549	90884738	C C	CATATATA others(29): Show CATATATACACATGTACACATATGTGTACGTGTACAT	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA18944.hp1 NA18973.hp1 others(4): Show HG02523.hp1 NA18944.hp1 NA18973.hp1 NA18992.hp2 NA19060.hp1 NA19065.hp1 NA19066.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0015 a0001c0001 a0003c0015	a0001c0001t0001 a0001c0001t0064 a0003c0015t0001 a0001c0001t0001 a0001c0001t0064 a0003c0015t0001	a0001c0001t0001g0040 a0001c0001t0001g0079 a0001c0001t0001g0143 others(4): Show a0001c0001t0001g0040 a0001c0001t0001g0079 a0001c0001t0001g0143 a0001c0001t0001g0202 a0001c0001t0001g0287 a0001c0001t0064g0153 a0003c0015t0001g0144	7	148	0.0473	36	c.158 others(55): Show c.1582-3006_1582-3005insTACACATGTACACATATGTGTACGTG TACATATATA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYN3_chr22_32502820_33063381	32572243	C C	CTCCTTCC others(29): Show CTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0106 a0001c0001t0018g0106	1	111	0.0090	36	c.774 others(55): Show c.774+24430_774+24431insAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGA	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	7/13			chr22	TogoVar
SYN3_chr22_32502820_33063381	32650230	T T	TCTCCCTC others(29): Show TCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	105	0.0095	36	c.712 others(55): Show c.712-53495_712-53494insGGAGGGAGGGAGGGAGGGAGGGAGGG AGGGAGGGAG	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	6/13			chr22	TogoVar
SYN3_chr22_32502820_33063381	32758681	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01074.hp1 others(7): Show HG01070.hp1 HG01071.hp2 HG01074.hp1 HG02572.hp1 HG02622.hp1 HG02630.hp2 HG03239.hp1 HG03669.hp1 NA18995.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 others(6): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0001t0025 a0001c0001t0028 a0001c0001t0059 a0001c0001t0074 a0002c0002t0004 a0002c0002t0071	a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0005g0158 others(7): Show a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0005g0158 a0001c0001t0010g0166 a0001c0001t0025g0023 a0001c0001t0028g0054 a0001c0001t0059g0078 a0001c0001t0074g0071 a0002c0002t0004g0154 a0002c0002t0071g0155	10	20	0.5000	36	c.711 others(57): Show c.711+106233_711+106234insATATATATATATATATATATATAT ATATATATATAT	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	6/13			chr22	TogoVar

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