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
STX2_chr12_130784600_130844250	130818183	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0304 a0002c0002t0002g0304	1	370	0.0027	22	c.205 others(39): Show c.205+3505_205+3506insATATATATATATATATATATAT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	AAAAAAAA others(15): Show AAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0003	1	213	0.0047	22	c.205 others(39): Show c.205+3503_205+3504insATATATATATATATTTTTTTTT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	AAAAAAAA others(15): Show AAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02922.hp2 HG03688.hp1 HG01109.hp2 HG02922.hp2 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0009 a0002c0002t0018 a0002c0002t0002 a0002c0002t0009 a0002c0002t0018	a0002c0002t0002g0028 a0002c0002t0009g0271 a0002c0002t0018g0280 a0002c0002t0002g0028 a0002c0002t0009g0271 a0002c0002t0018g0280	3	215	0.0140	22	c.205 others(39): Show c.205+3503_205+3504insATATATATATATATATTTTTTT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	AAAAAATA others(15): Show AAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA18747.hp2 NA18944.hp1 others(1): Show HG03579.hp1 NA18747.hp2 NA18944.hp1 NA18999.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0086 a0002c0002t0002g0103 others(1): Show a0002c0002t0002g0003 a0002c0002t0002g0086 a0002c0002t0002g0103 a0002c0002t0002g0281	4	216	0.0185	22	c.205 others(39): Show c.205+3503_205+3504insATATATATATATATATATTTTT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	AAAATATA others(15): Show AAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 NA18953.hp2 HG01496.hp1 NA18953.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0083 a0002c0002t0002g0099 a0002c0002t0002g0083 a0002c0002t0002g0099	2	214	0.0093	22	c.205 others(39): Show c.205+3503_205+3504insATATATATATATATATATATTT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX6_chr1_180967725_181027870	181023041	T T	TCTCTCTC others(15): Show TCTCTCTCTCTCTCCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0012 a0001c0002t0002g0012	1	339	0.0029	22	c.-36 others(31): Show c.-369_-368insGAGAGAGAGGAGAGAGAGAGAG	STX6	ENSG00000135823.14	transcript	ENST00000258301.6	protein_coding		172		chr1	TogoVar
STX7_chr6_132440867_132518116	132473952	G G	GGTGGCTC others(15): Show GGTGGCTCATGCCTGTAATCACA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0252 a0001c0001t0058g0252	1	378	0.0026	22	c.156 others(39): Show c.156-1578_156-1577insTGTGATTACAGGCATGAGCCAC	STX7	ENSG00000079950.14	transcript	ENST00000367941.7	protein_coding	3/9			chr6	TogoVar
STX8_chr17_9245471_9580820	9339070	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0062 a0001c0002t0002g0062	1	130	0.0077	22	c.643 others(41): Show c.643+39481_643+39482insTTTTTTTTTTTTTTTTTTTTTT	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	7/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9445503	G G	GTGGGGGG others(15): Show GTGGGGGGAGGGGGTTGGGGGGA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	186	0.0054	22	c.541 others(41): Show c.541+46325_541+46326insTCCCCCCAACCCCCTCCCCCCA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	6/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9445517	T T	TGGGGGGA others(15): Show TGGGGGGATGGGGGAGGGGGTTG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01074.hp1 HG01192.hp1 others(26): Show HG00738.hp1 HG01074.hp1 HG01192.hp1 HG01891.hp2 HG01981.hp2 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02809.hp1 HG02897.hp2 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03139.hp1 HG03471.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG06807.hp1 NA18957.hp2 NA18965.hp2 NA19007.hp2 NA19043.hp1 NA19088.hp2 NA19240.hp1 NA20805.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0004t0002 a0001c0005t0001 a0001c0008t0001	a0001c0001t0001g0094 a0001c0001t0001g0109 a0001c0001t0001g0122 others(26): Show a0001c0001t0001g0094 a0001c0001t0001g0109 a0001c0001t0001g0122 a0001c0001t0001g0141 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0161 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0002g0136 a0001c0001t0002g0166 a0001c0001t0002g0173 a0001c0001t0002g0176 a0001c0002t0001g0012 a0001c0002t0001g0029 a0001c0002t0001g0064 a0001c0002t0002g0024 a0001c0002t0002g0049 a0001c0003t0001g0032 a0001c0003t0001g0060 a0001c0003t0002g0030 a0001c0003t0002g0065 a0001c0003t0002g0069 a0001c0004t0001g0076 a0001c0004t0001g0125 a0001c0004t0002g0111 a0001c0005t0001g0182 a0001c0005t0001g0184 a0001c0008t0001g0183	29	30	0.9667	22	c.541 others(41): Show c.541+46311_541+46312insCAACCCCCTCCCCCATCCCCCC	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	6/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9445517	T T	TGGGGGGG others(15): Show TGGGGGGGTGGGGGAGGGGGTTG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00642.hp2 HG01081.hp2 others(34): Show HG00558.hp1 HG00642.hp2 HG01081.hp2 HG01123.hp1 HG01257.hp1 HG01346.hp2 HG01517.hp2 HG01981.hp1 HG02132.hp1 HG02132.hp2 HG02273.hp1 HG02273.hp2 HG02451.hp1 HG02486.hp1 HG03017.hp1 HG03195.hp2 HG03225.hp2 HG03490.hp2 HG03942.hp2 HG04184.hp1 HG04228.hp2 HG06807.hp2 NA18948.hp1 NA18966.hp1 NA18966.hp2 NA18982.hp1 NA18982.hp2 NA18986.hp1 NA18986.hp2 NA19004.hp2 NA19007.hp1 NA19043.hp2 NA19079.hp1 NA19079.hp2 NA20129.hp1 NA20752.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0002c0009	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0004t0002 a0001c0006t0002 a0002c0009t0001	a0001c0001t0001g0083 a0001c0001t0001g0101 a0001c0001t0001g0102 others(34): Show a0001c0001t0001g0083 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0128 a0001c0001t0001g0142 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0160 a0001c0001t0001g0169 a0001c0001t0002g0100 a0001c0001t0002g0117 a0001c0001t0002g0129 a0001c0001t0002g0135 a0001c0002t0001g0020 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0059 a0001c0002t0002g0038 a0001c0002t0002g0058 a0001c0003t0001g0039 a0001c0003t0002g0005 a0001c0003t0002g0027 a0001c0003t0002g0068 a0001c0004t0001g0080 a0001c0004t0001g0081 a0001c0004t0001g0084 a0001c0004t0001g0155 a0001c0004t0001g0179 a0001c0004t0002g0079 a0001c0004t0002g0132 a0001c0006t0002g0138 a0002c0009t0001g0028	37	38	0.9737	22	c.541 others(41): Show c.541+46311_541+46312insCAACCCCCTCCCCCACCCCCCC	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	6/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9471031	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01081.hp1 HG01123.hp2 others(8): Show HG00673.hp1 HG01081.hp1 HG01123.hp2 HG01993.hp1 HG01993.hp2 NA18971.hp1 NA18971.hp2 NA18982.hp1 NA19004.hp2 NA19043.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0007 a0001c0001 a0001c0004 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0004t0002 a0001c0007t0001	a0001c0001t0001g0104 a0001c0001t0001g0124 a0001c0001t0001g0167 others(8): Show a0001c0001t0001g0104 a0001c0001t0001g0124 a0001c0001t0001g0167 a0001c0001t0002g0116 a0001c0001t0002g0118 a0001c0004t0001g0080 a0001c0004t0001g0081 a0001c0004t0001g0179 a0001c0004t0002g0088 a0001c0004t0002g0145 a0001c0007t0001g0086	11	34	0.3235	22	c.541 others(41): Show c.541+20776_541+20797dupAAAAAAAAAAAAAAAAAAAAAA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	6/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9559760	A A	ATATATAT others(15): Show ATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0179 a0001c0004t0001g0179	1	7	0.1429	22	c.118 others(39): Show c.118-2233_118-2232insAAAAAAAATATATATATATATA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	2/7			chr17	TogoVar
STXBP4_chr17_54963765_55178632	54997543	A A	ATATATAA others(15): Show ATATATAATATAAATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02027.hp1 HG02040.hp1 others(40): Show HG00621.hp2 HG02027.hp1 HG02040.hp1 HG02071.hp2 HG02129.hp2 HG02132.hp1 HG02165.hp2 HG02572.hp1 HG02735.hp2 HG03098.hp1 HG03225.hp1 HG04228.hp1 NA18939.hp2 NA18942.hp2 NA18945.hp2 NA18947.hp2 NA18948.hp2 NA18955.hp2 NA18957.hp1 NA18961.hp1 NA18964.hp2 NA18969.hp2 NA18979.hp2 NA18980.hp1 NA18982.hp2 NA18984.hp1 NA18989.hp1 NA18992.hp1 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19004.hp2 NA19054.hp2 NA19060.hp2 NA19063.hp2 NA19066.hp2 NA19068.hp2 NA19079.hp1 NA19081.hp1 NA19082.hp2 NA19084.hp1 NA19086.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(11): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0008 a0001c0002t0024 a0001c0002t0037 a0001c0002t0102 a0001c0002t0107 a0001c0002t0108 a0001c0002t0109 a0001c0002t0110 a0001c0002t0111 a0001c0002t0125 a0001c0002t0128	a0001c0002t0001g0106 a0001c0002t0002g0001 a0001c0002t0002g0002 others(38): Show a0001c0002t0001g0106 a0001c0002t0002g0001 a0001c0002t0002g0002 a0001c0002t0002g0030 a0001c0002t0002g0035 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0044 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0056 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0062 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0107 a0001c0002t0003g0070 a0001c0002t0008g0034 a0001c0002t0024g0071 a0001c0002t0037g0045 a0001c0002t0037g0046 a0001c0002t0102g0055 a0001c0002t0107g0042 a0001c0002t0108g0097 a0001c0002t0109g0061 a0001c0002t0110g0041 a0001c0002t0111g0043 a0001c0002t0125g0040 a0001c0002t0128g0057	43	375	0.1147	22	c.181 others(39): Show c.181-1779_181-1758dupTATATAATATAAATATATATAT	STXBP4	ENSG00000166263.13	transcript	ENST00000376352.6	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
STXBP5L_chr3_120903205_121429761	120984632	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01978.hp2 HG02896.hp1 others(1): Show HG00735.hp1 HG01978.hp2 HG02896.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0030 a0001c0001t0005 a0001c0001t0007 a0001c0001t0030	a0001c0001t0005g0264 a0001c0001t0005g0279 a0001c0001t0007g0277 others(1): Show a0001c0001t0005g0264 a0001c0001t0005g0279 a0001c0001t0007g0277 a0001c0001t0030g0254	4	109	0.0367	22	c.287 others(41): Show c.287+29596_287+29617dupTTTTTTTTTTTTTTTTTTTTTT	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr3	TogoVar
STXBP5L_chr3_120903205_121429761	121312446	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG01255.hp2 others(1): Show HG00140.hp1 HG00639.hp1 HG01255.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0001 a0001c0001t0003 a0001c0001t0007	a0001c0001t0001g0282 a0001c0001t0003g0253 a0001c0001t0007g0267 others(1): Show a0001c0001t0001g0282 a0001c0001t0003g0253 a0001c0001t0007g0267 a0001c0001t0007g0283	4	57	0.0702	22	c.211 others(41): Show c.2111-6018_2111-5997dupTTTTTTTTTTTTTTTTTTTTTT	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr3	TogoVar
STXBP5_chr6_147199417_147395473	147213477	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGCGCGCGC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02723.hp1 HG06807.hp2 HG02717.hp2 HG02723.hp1 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0186 a0001c0003t0009g0190 a0001c0003t0009g0191 a0001c0003t0009g0186 a0001c0003t0009g0190 a0001c0003t0009g0191	3	176	0.0170	22	c.248 others(39): Show c.248+7410_248+7411insTGTGTGTGTGTGTGCGCGCGCG	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
STXBP5_chr6_147199417_147395473	147337192	G G	GACACACA others(15): Show GACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02055.hp2 HG02155.hp1 others(24): Show HG02027.hp1 HG02055.hp2 HG02155.hp1 HG02165.hp1 HG02559.hp1 HG02723.hp2 HG02895.hp2 HG02896.hp2 HG02970.hp1 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 NA18747.hp2 NA18950.hp2 NA18955.hp2 NA18962.hp1 NA18974.hp1 NA18985.hp1 NA19043.hp2 NA19056.hp2 NA19065.hp1 NA19088.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 others(5): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0001t0012 a0001c0001t0024 a0001c0001t0038 a0001c0001t0039 a0001c0001t0043	a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0050 others(24): Show a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0055 a0001c0001t0003g0057 a0001c0001t0003g0060 a0001c0001t0003g0144 a0001c0001t0003g0202 a0001c0001t0005g0038 a0001c0001t0005g0040 a0001c0001t0005g0041 a0001c0001t0005g0042 a0001c0001t0005g0043 a0001c0001t0005g0044 a0001c0001t0005g0161 a0001c0001t0010g0322 a0001c0001t0010g0333 a0001c0001t0012g0034 a0001c0001t0012g0035 a0001c0001t0012g0342 a0001c0001t0012g0343 a0001c0001t0024g0039 a0001c0001t0038g0337 a0001c0001t0039g0058 a0001c0001t0043g0037	27	293	0.0922	22	c.214 others(41): Show c.2147-1985_2147-1964dupCACACACACACACACACACACA	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding	19/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
STXBP5_chr6_147199417_147395473	147337214	C C	CACACACA others(15): Show CACACACACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp1 HG00642.hp2 others(16): Show HG00639.hp2 HG00642.hp1 HG00642.hp2 HG01099.hp2 HG01243.hp1 HG01255.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01993.hp1 HG02148.hp1 HG02735.hp2 HG02976.hp2 HG03225.hp2 HG03490.hp1 NA18979.hp2 NA18980.hp2 NA18993.hp1 NA19091.hp1	a0002 a0002	a0002c0002 a0002c0012 a0002c0002 a0002c0012	a0002c0002t0001 a0002c0002t0002 a0002c0002t0029 others(1): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0029 a0002c0012t0003	a0002c0002t0001g0350 a0002c0002t0002g0026 a0002c0002t0002g0064 others(16): Show a0002c0002t0001g0350 a0002c0002t0002g0026 a0002c0002t0002g0064 a0002c0002t0002g0068 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0081 a0002c0002t0002g0085 a0002c0002t0002g0103 a0002c0002t0002g0111 a0002c0002t0002g0117 a0002c0002t0002g0140 a0002c0002t0002g0164 a0002c0002t0002g0195 a0002c0002t0002g0210 a0002c0002t0029g0045 a0002c0012t0003g0123	19	209	0.0909	22	c.214 others(41): Show c.2147-1964_2147-1963insCACACACACACACACACACAAA	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding	19/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
STXBP5_chr6_147199417_147395473	147392017	A A	AGAGAGAG others(15): Show AGAGAGAGAGAGAGAGAGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0110 a0002c0002t0004g0110	1	127	0.0079	22	c.72 others(33): Show c.7262_*7263insGAGAGAGAGAGAGAGAGTGTGT	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding		1545		chr6	TogoVar
STXBP5_chr6_147199417_147395473	147392017	A A	AGAGAGAG others(15): Show AGAGAGAGAGAGAGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp1 HG03139.hp1 HG04184.hp2 others(1): Show HG02273.hp1 HG03139.hp1 HG04184.hp2 NA19011.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0035 a0002c0002t0002 a0002c0002t0035	a0002c0002t0002g0088 a0002c0002t0002g0112 a0002c0002t0002g0171 others(1): Show a0002c0002t0002g0088 a0002c0002t0002g0112 a0002c0002t0002g0171 a0002c0002t0035g0063	4	130	0.0308	22	c.72 others(33): Show c.7262_*7263insGAGAGAGAGAGAGTGTGTGTGT	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding		1545		chr6	TogoVar
STXBP5_chr6_147199417_147395473	147392017	A A	AGAGTGTG others(15): Show AGAGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0326 a0001c0001t0003g0326	1	127	0.0079	22	c.72 others(33): Show c.7262_*7263insGAGTGTGTGTGTGTGTGTGTGT	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding		1545		chr6	TogoVar
STXBP6_chr14_24804454_25055147	24810865	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02809.hp2 HG03139.hp1 HG02809.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0085 a0001c0001t0063 a0001c0001t0085	a0001c0001t0063g0145 a0001c0001t0085g0172 a0001c0001t0063g0145 a0001c0001t0085g0172	2	23	0.0870	22	c.18 others(33): Show c.1822_*1843dupCACACACACACACACACACACA	STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding	6/6	1843		chr14	TogoVar
STXBP6_chr14_24804454_25055147	24945139	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0155 a0001c0001t0036g0155	1	37	0.0270	22	c.154 others(41): Show c.154+29504_154+29525dupAAAAAAAAAAAAAAAAAAAAAA	STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding	2/5			chr14	TogoVar
STXBP6_chr14_24804454_25055147	24964647	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0138 a0001c0001t0070g0138	1	108	0.0093	22	c.154 others(40): Show c.154+9996_154+10017dupCACACACACACACACACACACA	STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding	2/5			chr14	TogoVar
STXBP6_chr14_24804454_25055147	24976852	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0107 a0001c0001t0107	a0001c0001t0107g0219 a0001c0001t0107g0219	1	52	0.0192	22	c.-32 others(39): Show c.-32-2024_-32-2003dupAAAAAAAAAAAAAAAAAAAAAA	STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding	1/5			chr14	TogoVar
STXBP6_chr14_24804454_25055147	25002359	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0089 a0001c0001t0089	a0001c0001t0089g0175 a0001c0001t0089g0175	1	143	0.0070	22	c.-32 others(41): Show c.-32-27510_-32-27509insAAAAAAAAAAAAAAAAAAAAAA	STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding	1/5			chr14	TogoVar
STYXL1_chr7_75991342_76053000	75999493	G G	GTGTATGT others(15): Show GTGTATGTGTGTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04204.hp2 HG04199.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0336 a0001c0001t0001g0337	2	345	0.0058	22	c.810 others(39): Show c.810+1396_810+1397insTATACACACACACACACATACA	STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	8/8			chr7	TogoVar
STYXL1_chr7_75991342_76053000	76017866	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00735.hp1 HG01515.hp1 others(29): Show HG00609.hp2 HG00735.hp1 HG01515.hp1 HG01891.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02129.hp1 HG02148.hp2 HG02273.hp1 HG02486.hp2 HG02738.hp1 HG04115.hp1 HG04228.hp1 NA18948.hp1 NA18961.hp2 NA18963.hp1 NA18977.hp2 NA18994.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19012.hp2 NA19056.hp1 NA19066.hp2 NA19084.hp1 NA19090.hp1 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0004 a0001c0002 a0001c0003 a0002c0004	a0001c0002t0002 a0001c0003t0001 a0002c0004t0001 a0001c0002t0002 a0001c0003t0001 a0002c0004t0001	a0001c0002t0002g0035 a0001c0002t0002g0048 a0001c0002t0002g0050 others(29): Show a0001c0002t0002g0035 a0001c0002t0002g0048 a0001c0002t0002g0050 a0001c0002t0002g0056 a0001c0002t0002g0091 a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0003t0001g0175 a0001c0003t0001g0284 a0001c0003t0001g0285 a0001c0003t0001g0289 a0001c0003t0001g0292 a0001c0003t0001g0312 a0001c0003t0001g0314 a0001c0003t0001g0319 a0001c0003t0001g0328 a0002c0004t0001g0166 a0002c0004t0001g0168 a0002c0004t0001g0169 a0002c0004t0001g0180 a0002c0004t0001g0181 a0002c0004t0001g0182 a0002c0004t0001g0184 a0002c0004t0001g0190 a0002c0004t0001g0194 a0002c0004t0001g0195 a0002c0004t0001g0196 a0002c0004t0001g0200 a0002c0004t0001g0202 a0002c0004t0001g0203 a0002c0004t0001g0205 a0002c0004t0001g0207	32	44	0.7273	22	c.308 others(39): Show c.308-3980_308-3979insTTTTTTTTTTTTTTTTTTTTTT	STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	4/8			chr7	TogoVar
STYXL1_chr7_75991342_76053000	76021080	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0162 a0001c0002t0006g0162	1	272	0.0037	22	c.307 others(37): Show c.307+770_307+771insAAAAAAAAAAAAAAAAAAAAAA	STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	4/8			chr7	TogoVar
STYX_chr14_52725166_52779989	52769872	T T	TGCCAAAG others(15): Show TGCCAAAGCCTCCTTTGGCTTCA	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0073 a0001c0001t0011g0073	1	368	0.0027	22	c.598 others(37): Show c.598+940_598+961dupGCCAAAGCCTCCTTTGGCTTCA	STYX	ENSG00000198252.12	transcript	ENST00000354586.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
SUCLA2_chr13_47937656_48006273	47943762	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0030 a0001c0001t0004g0030	1	145	0.0069	22	c.131 others(39): Show c.1318-318_1318-317insTATATATATATATATATATATA	SUCLA2	ENSG00000136143.16	transcript	ENST00000646932.1	protein_coding	10/10			chr13	TogoVar
SUCLA2_chr13_47937656_48006273	47943764	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0242 a0002c0002t0001g0242	1	103	0.0097	22	c.131 others(39): Show c.1318-320_1318-319insTATATATATATATATATATATA	SUCLA2	ENSG00000136143.16	transcript	ENST00000646932.1	protein_coding	10/10			chr13	TogoVar
SUCLA2_chr13_47937656_48006273	47943766	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG02258.hp1 HG01069.hp2 HG01071.hp2 HG02258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0253 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0253	3	23	0.1304	22	c.131 others(39): Show c.1318-322_1318-321insTATATATATATATATATATATA	SUCLA2	ENSG00000136143.16	transcript	ENST00000646932.1	protein_coding	10/10			chr13	TogoVar
SUCLG2_chr3_67369719_67659612	67409182	T T	TGGGGAGG others(15): Show TGGGGAGGGGTCATGAAGGTACA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01167.hp2 NA18968.hp2 others(3): Show HG00597.hp2 HG01167.hp2 NA18968.hp2 NA18972.hp1 NA19002.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0059 a0001c0001t0001g0092 a0001c0001t0001g0153 others(3): Show a0001c0001t0001g0059 a0001c0001t0001g0092 a0001c0001t0001g0153 a0001c0001t0001g0206 a0001c0001t0002g0181 a0001c0001t0003g0188	6	278	0.0216	22	c.106 others(41): Show c.1063-8353_1063-8332dupTGTACCTTCATGACCCCTCCCC	SUCLG2	ENSG00000172340.15	transcript	ENST00000307227.10	protein_coding	9/10			chr3	TogoVar
SUCLG2_chr3_67369719_67659612	67422473	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01192.hp2 HG03017.hp2 HG01081.hp1 HG01192.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0130 a0001c0001t0001g0147 a0001c0001t0001g0047 a0001c0001t0001g0130 a0001c0001t0001g0147	3	37	0.0811	22	c.106 others(43): Show c.1063-21644_1063-21623dupTTTTTTTTTTTTTTTTTTTTTT	SUCLG2	ENSG00000172340.15	transcript	ENST00000307227.10	protein_coding	9/10			chr3	TogoVar
SUCLG2_chr3_67369719_67659612	67615621	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0077 a0002c0002t0003g0077	1	130	0.0077	22	c.85- others(37): Show c.85-6047_85-6026dupGTGTGTGTGTGTGTGTGTGTGT	SUCLG2	ENSG00000172340.15	transcript	ENST00000307227.10	protein_coding	1/10			chr3	TogoVar
SUDS3_chr12_118371555_118423033	118382344	G G	GGCCACTT others(15): Show GGCCACTTTTTTTTGAGACAGTA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0260 a0001c0001t0036g0260	1	254	0.0039	22	c.213 others(39): Show c.213-1645_213-1624dupGCCACTTTTTTTTGAGACAGTA	SUDS3	ENSG00000111707.12	transcript	ENST00000543473.2	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
SUDS3_chr12_118371555_118423033	118413690	T T	TCAATGGA others(15): Show TCAATGGAAGAATGCATCTGCCC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0304 a0001c0001t0030g0304	1	406	0.0025	22	c.889 others(37): Show c.889-644_889-623dupCAATGGAAGAATGCATCTGCCC	SUDS3	ENSG00000111707.12	transcript	ENST00000543473.2	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
SUGCT_chr7_40130005_40865763	40249313	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	3	0.3333	22	c.576 others(41): Show c.576+11600_576+11621dupTATATATATATATATATATATA	SUGCT	ENSG00000175600.16	transcript	ENST00000335693.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SUGCT_chr7_40130005_40865763	40324261	A A	ATATATAT others(15): Show ATATATATATATATATATTTATT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	6	0.1667	22	c.816 others(39): Show c.816+7409_816+7410insATATATATATATATTTATTTAT	SUGCT	ENSG00000175600.16	transcript	ENST00000335693.9	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SUGT1_chr13_52647836_52705909	52659814	A A	ATATATAT others(15): Show ATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0012 a0001c0001t0010g0012	1	110	0.0091	22	c.328 others(37): Show c.328+566_328+567insATATATATATATATATATTTTT	SUGT1	ENSG00000165416.15	transcript	ENST00000310528.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SUGT1_chr13_52647836_52705909	52701802	G G	GACACACA others(15): Show GACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00673.hp2 HG01433.hp1 others(25): Show HG00544.hp2 HG00673.hp2 HG01433.hp1 HG01952.hp1 HG02055.hp2 HG02109.hp2 HG02273.hp1 HG02486.hp1 HG02523.hp1 HG02683.hp1 HG02717.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG03017.hp2 HG03041.hp2 HG03453.hp1 HG03453.hp2 HG03688.hp1 HG03704.hp1 HG03834.hp2 HG03927.hp1 HG06807.hp1 NA19000.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(11): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0024 a0001c0001t0025 a0001c0001t0030 a0001c0001t0031 a0001c0001t0045 a0001c0001t0064 a0001c0001t0069 a0001c0001t0098 a0001c0001t0099	a0001c0001t0002g0008 a0001c0001t0002g0029 a0001c0001t0002g0096 others(22): Show a0001c0001t0002g0008 a0001c0001t0002g0029 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0100 a0001c0001t0002g0133 a0001c0001t0002g0144 a0001c0001t0003g0001 a0001c0001t0003g0061 a0001c0001t0004g0011 a0001c0001t0004g0132 a0001c0001t0007g0023 a0001c0001t0008g0033 a0001c0001t0008g0169 a0001c0001t0008g0170 a0001c0001t0024g0008 a0001c0001t0024g0121 a0001c0001t0025g0008 a0001c0001t0030g0139 a0001c0001t0031g0014 a0001c0001t0045g0140 a0001c0001t0064g0102 a0001c0001t0069g0088 a0001c0001t0098g0028 a0001c0001t0099g0028	28	38	0.7368	22	c.13 others(35): Show c.13967_*13968insACACACACACACACACACACAC	SUGT1	ENSG00000165416.15	transcript	ENST00000310528.9	protein_coding		894		chr13	TogoVar
SULF2_chr20_47652406_47790481	47678506	A A	AGGGGACC others(15): Show AGGGGACCATGCTTCTCTCCCAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp2 HG00738.hp1 others(34): Show HG00423.hp1 HG00597.hp2 HG00738.hp1 HG01106.hp1 HG01109.hp1 HG01169.hp1 HG01346.hp1 HG01433.hp2 HG01928.hp1 HG01943.hp2 HG02004.hp2 HG02071.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG03669.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp1 NA18949.hp1 NA18951.hp1 NA18955.hp1 NA18959.hp1 NA18967.hp2 NA18990.hp1 NA18995.hp2 NA18998.hp1 NA19088.hp2 NA20300.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0007 others(4): Show a0001c0001 a0001c0002 a0001c0007 a0001c0025 a0001c0026 a0001c0028 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0007t0001 a0001c0025t0002 a0001c0026t0004 a0001c0028t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003	a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0134 others(34): Show a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0134 a0001c0001t0001g0175 a0001c0001t0001g0278 a0001c0001t0001g0290 a0001c0001t0002g0142 a0001c0001t0002g0312 a0001c0001t0003g0036 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0026 a0001c0002t0001g0045 a0001c0002t0001g0056 a0001c0002t0001g0085 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0159 a0001c0002t0001g0188 a0001c0002t0001g0190 a0001c0002t0001g0194 a0001c0002t0001g0240 a0001c0002t0001g0260 a0001c0002t0001g0275 a0001c0002t0001g0294 a0001c0002t0002g0019 a0001c0002t0002g0230 a0001c0002t0003g0025 a0001c0002t0003g0030 a0001c0002t0004g0191 a0001c0007t0001g0014 a0001c0025t0002g0073 a0001c0026t0004g0125 a0001c0028t0001g0135 a0002c0003t0001g0046 a0002c0003t0002g0077 a0002c0003t0003g0274	37	362	0.1022	22	c.119 others(39): Show c.1193+148_1193+169dupGTGGGAGAGAAGCATGGTCCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	8/20			chr20	TogoVar
SULF2_chr20_47652406_47790481	47731182	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0159 a0001c0002t0001g0159	1	342	0.0029	22	c.415 others(39): Show c.415+5520_415+5521insAAAAAAAAAAAAAAAAAAAAAA	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	3/20			chr20	TogoVar
SULF2_chr20_47652406_47790481	47731187	C C	CTCTCTCT others(15): Show CTCTCTCTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0357 a0001c0001t0001g0357	1	120	0.0083	22	c.415 others(39): Show c.415+5515_415+5516insAAAAAAAAAAAAAAAAGAGAGA	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	3/20			chr20	TogoVar
SULT1C3_chr2_108234968_108265886	108254809	G G	GTATATAT others(15): Show GTATATATGTGTATATATACACA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0086 a0001c0001t0002g0086	1	374	0.0027	22	c.400 others(37): Show c.400-751_400-730dupATATATACACATATATATGTGT	SULT1C3	ENSG00000196228.5	transcript	ENST00000681802.2	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SULT1E1_chr4_69836212_69865145	69837649	T T	TAATAGAA others(15): Show TAATAGAAAATATTTTGGTTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	444	0.0023	22	c.43 others(33): Show c.4344_*4345insTATAACCAAAATATTTTCTATT	SULT1E1	ENSG00000109193.12	transcript	ENST00000226444.4	protein_coding		3562		chr4	TogoVar
SULT2A1_chr19_47865467_47891315	47869303	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0008 a0003c0004t0008	a0003c0004t0008g0181 a0003c0004t0008g0181	1	20	0.0500	22	c.21 others(33): Show c.2151_*2152insAAAAAAAAAAAAAAAAAAAAAA	SULT2A1	ENSG00000105398.4	transcript	ENST00000222002.4	protein_coding		1163		chr19	TogoVar
SULT2B1_chr19_48547172_48604423	48555549	C C	CCTCTCTC others(15): Show CCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	84	0.0119	22	c.71+ others(37): Show c.71+3245_71+3266dupCTCTCTCTCTCTCTCTCTCTCT	SULT2B1	ENSG00000088002.12	transcript	ENST00000201586.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar

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