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
STAG3_chr7_100172918_100219381	100218249	T T	TCCTAGGT others(13): Show TCCTAGGTTATAATTGTAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0009 a0009	a0009c0006 a0009c0006	a0009c0006t0001 a0009c0006t0001	a0009c0006t0001g0132 a0009c0006t0001g0132	1	322	0.0031	20	c.42 others(31): Show c.4234_*4235insCCTAGGTTATAATTGTAGAA	STAG3	ENSG00000066923.19	transcript	ENST00000615138.5	protein_coding		3869		chr7	TogoVar
STAM2_chr2_152111801_152180763	152112876	G G	GAATTGCC others(13): Show GAATTGCCACAACCAATGCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0025 a0003c0005t0025	a0003c0005t0025g0100 a0003c0005t0025g0100	1	360	0.0028	20	c.76 others(31): Show c.7697_*7698insTTGCATTGGTTGTGGCAATT	STAM2	ENSG00000115145.10	transcript	ENST00000263904.5	protein_coding		3924		chr2	TogoVar
STAM2_chr2_152111801_152180763	152159110	T T	TATATATA others(13): Show TATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0091 a0001c0001t0002g0091	1	360	0.0028	20	c.41- others(35): Show c.41-8882_41-8881insGTGTATATATATATATATAT	STAM2	ENSG00000115145.10	transcript	ENST00000263904.5	protein_coding	1/13			chr2	TogoVar
STAM2_chr2_152111801_152180763	152159110	T T	TATATATA others(13): Show TATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02071.hp2 HG03491.hp1 others(11): Show HG02015.hp2 HG02071.hp2 HG03491.hp1 HG03492.hp2 HG04184.hp1 HG04199.hp2 NA18950.hp1 NA18959.hp2 NA18970.hp1 NA18992.hp1 NA19006.hp1 NA19064.hp2 NA19075.hp2 NA19078.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0031 a0003c0005t0025	a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 others(11): Show a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0101 a0001c0001t0005g0039 a0001c0001t0005g0066 a0001c0001t0005g0067 a0001c0001t0005g0068 a0001c0001t0005g0070 a0001c0001t0005g0071 a0001c0001t0009g0030 a0001c0001t0031g0069 a0003c0005t0025g0100	14	360	0.0389	20	c.41- others(35): Show c.41-8882_41-8881insGTATATATATATATATATAT	STAM2	ENSG00000115145.10	transcript	ENST00000263904.5	protein_coding	1/13			chr2	TogoVar
STAMBP_chr2_73823961_73872168	73832108	T T	TATATATA others(13): Show TATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01256.hp2 HG01258.hp1 others(2): Show HG00423.hp1 HG01256.hp2 HG01258.hp1 NA18943.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0045 a0001c0001t0002 a0001c0001t0016 a0001c0001t0045	a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0016g0013 others(1): Show a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0016g0013 a0001c0001t0045g0240	5	368	0.0136	20	c.203 others(37): Show c.203+1050_203+1051insTATATATATATATATACACA	STAMBP	ENSG00000124356.17	transcript	ENST00000394070.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
STAMBP_chr2_73823961_73872168	73832108	T T	TATATATA others(13): Show TATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01981.hp1 HG02273.hp1 others(9): Show HG00140.hp2 HG01981.hp1 HG02273.hp1 HG02735.hp1 HG03688.hp1 HG03710.hp1 NA18981.hp2 NA18994.hp2 NA19000.hp1 NA19003.hp2 NA19067.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 a0001c0001t0016	a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 others(9): Show a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0285 a0001c0001t0004g0274 a0001c0001t0004g0276 a0001c0001t0004g0284 a0001c0001t0013g0275 a0001c0001t0016g0277	12	368	0.0326	20	c.203 others(37): Show c.203+1050_203+1051insTATATATATATATATATACA	STAMBP	ENSG00000124356.17	transcript	ENST00000394070.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
STAMBP_chr2_73823961_73872168	73843406	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02965.hp1 HG03195.hp1 HG02451.hp1 HG02965.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0009 a0001c0001t0008 a0001c0002t0009	a0001c0001t0008g0333 a0001c0001t0008g0344 a0001c0002t0009g0029 a0001c0001t0008g0333 a0001c0001t0008g0344 a0001c0002t0009g0029	3	368	0.0082	20	c.204 others(37): Show c.204-1394_204-1393insATATATATATATATATATAT	STAMBP	ENSG00000124356.17	transcript	ENST00000394070.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
STAMBP_chr2_73823961_73872168	73843406	G G	GTATATGT others(13): Show GTATATGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0028 a0001c0002t0009g0028	1	368	0.0027	20	c.204 others(37): Show c.204-1402_204-1401insGTATATATATATATATATAT	STAMBP	ENSG00000124356.17	transcript	ENST00000394070.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
STAM_chr10_17639151_17721824	17639402	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG01106.hp1 HG02630.hp2 others(4): Show HG00099.hp2 HG01106.hp1 HG02630.hp2 HG03017.hp1 HG03453.hp1 HG03669.hp1 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0002t0003 a0001c0001t0003 a0001c0001t0004 a0001c0002t0003	a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0004g0174 others(4): Show a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0004g0174 a0001c0002t0003g0031 a0001c0002t0003g0164 a0001c0002t0003g0168 a0001c0002t0003g0169	7	426	0.0164	20	c.-49 others(31): Show c.-4938_-4937insTTTTTTTTTTTTTTTTTTTT	STAM	ENSG00000136738.15	transcript	ENST00000377524.8	protein_coding		4748		chr10	TogoVar
STAP2_chr19_4319043_4343827	4340027	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 NA18972.hp1 NA19081.hp2 others(1): Show HG02886.hp1 NA18972.hp1 NA19081.hp2 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0002c0002t0001 a0001c0003t0001 a0002c0002t0001	a0001c0003t0001g0031 a0001c0003t0001g0176 a0001c0003t0001g0183 others(1): Show a0001c0003t0001g0031 a0001c0003t0001g0176 a0001c0003t0001g0183 a0002c0002t0001g0174	4	388	0.0103	20	c.-12 others(31): Show c.-1275_-1274insAAAAAAAAAAAAAAAAAAAA	STAP2	ENSG00000178078.12	transcript	ENST00000594605.6	protein_coding		1201		chr19	TogoVar
STARD10_chr11_72749729_72799047	72755306	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03225.hp1 NA18967.hp1 others(1): Show HG02738.hp1 HG03225.hp1 NA18967.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0135 a0001c0001t0003g0141 a0001c0001t0003g0170 others(1): Show a0001c0001t0003g0135 a0001c0001t0003g0141 a0001c0001t0003g0170 a0001c0001t0003g0213	4	376	0.0106	20	c.631 others(35): Show c.631-184_631-165dupAAAAAAAAAAAAAAAAAAAA	STARD10	ENSG00000214530.10	transcript	ENST00000334805.11	protein_coding	6/6			chr11	TogoVar
STARD10_chr11_72749729_72799047	72761917	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02615.hp1 HG03942.hp1 others(2): Show HG02280.hp2 HG02615.hp1 HG03942.hp1 NA18966.hp1 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0017 a0001c0001t0001 a0001c0001t0003 a0001c0001t0017	a0001c0001t0001g0127 a0001c0001t0003g0126 a0001c0001t0003g0186 others(2): Show a0001c0001t0001g0127 a0001c0001t0003g0126 a0001c0001t0003g0186 a0001c0001t0003g0204 a0001c0001t0017g0292	5	376	0.0133	20	c.208 others(37): Show c.208-2556_208-2537dupAAAAAAAAAAAAAAAAAAAA	STARD10	ENSG00000214530.10	transcript	ENST00000334805.11	protein_coding	2/6			chr11	TogoVar
STARD13_chr13_33098137_33290755	33181267	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0267 a0002c0003t0003g0267	1	302	0.0033	20	c.170 others(39): Show c.170-13646_170-13645insGTGTGTGTGTGTGTGTGTGT	STARD13	ENSG00000133121.21	transcript	ENST00000336934.10	protein_coding	1/13			chr13	TogoVar
STARD13_chr13_33098137_33290755	33262662	A A	ACACACAA others(13): Show ACACACAACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03486.hp2 HG03453.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0002 a0001c0005t0005 a0001c0002t0002 a0001c0005t0005	a0001c0002t0002g0174 a0001c0005t0005g0182 a0001c0002t0002g0174 a0001c0005t0005g0182	2	302	0.0066	20	c.169 others(39): Show c.169+22807_169+22808insGTGTGTGTGTGTGTTGTGTG	STARD13	ENSG00000133121.21	transcript	ENST00000336934.10	protein_coding	1/13			chr13	TogoVar
STARD3NL_chr7_38173245_38235669	38197133	C C	CTTCTTTC others(13): Show CTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG03209.hp1 HG02056.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0045 a0001c0001t0003g0103 a0001c0001t0003g0045 a0001c0001t0003g0103	2	404	0.0050	20	c.-58 others(39): Show c.-58-10312_-58-10311insCTTTCTTTCTTTCTTTCTTT	STARD3NL	ENSG00000010270.14	transcript	ENST00000009041.12	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
STARD3NL_chr7_38173245_38235669	38197136	T T	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00642.hp1 others(33): Show HG00408.hp2 HG00423.hp2 HG00642.hp1 HG00642.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01261.hp1 HG01358.hp1 HG01884.hp1 HG01943.hp2 HG02056.hp2 HG02071.hp1 HG02129.hp1 HG02145.hp2 HG03017.hp2 NA18956.hp2 NA18969.hp1 NA18974.hp1 NA18981.hp1 NA18989.hp2 NA19010.hp1 NA19012.hp1 NA19055.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp2 NA19076.hp2 NA19077.hp1 NA19081.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA20300.hp2 NA20805.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0003c0004t0001	a0001c0001t0001g0037 a0001c0001t0001g0064 a0001c0001t0001g0065 others(27): Show a0001c0001t0001g0037 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0288 a0001c0001t0001g0315 a0001c0001t0001g0321 a0001c0001t0002g0007 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0276 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0024 a0001c0001t0004g0139 a0001c0001t0004g0158 a0001c0001t0004g0188 a0001c0001t0004g0195 a0001c0001t0004g0198 a0001c0001t0005g0023 a0001c0001t0005g0187 a0001c0001t0005g0199 a0001c0001t0006g0020 a0001c0001t0008g0200 a0001c0001t0011g0137 a0003c0004t0001g0322	36	404	0.0891	20	c.-58 others(39): Show c.-58-10271_-58-10252dupCTTTCTTTCTTTCTTTCTTT	STARD3NL	ENSG00000010270.14	transcript	ENST00000009041.12	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
STARD7_chr2_96179859_96213827	96197066	C C	CAAAATAA others(13): Show CAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG00639.hp2 others(7): Show HG00140.hp2 HG00639.hp1 HG00639.hp2 HG00741.hp1 HG01175.hp2 HG01243.hp1 HG01256.hp1 HG01258.hp2 HG01346.hp2 HG01496.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0002c0005t0002	a0001c0001t0001g0021 a0001c0001t0001g0068 a0001c0001t0001g0087 others(4): Show a0001c0001t0001g0021 a0001c0001t0001g0068 a0001c0001t0001g0087 a0001c0001t0005g0010 a0001c0001t0006g0043 a0001c0001t0006g0049 a0002c0005t0002g0052	10	358	0.0279	20	c.291 others(37): Show c.291-1537_291-1518dupATTTTATTTTATTTTATTTT	STARD7	ENSG00000084090.14	transcript	ENST00000337288.10	protein_coding	1/7			chr2	TogoVar
STARD7_chr2_96179859_96213827	96197069	A A	AATAACAT others(13): Show AATAACATAACATAACATAAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02083.hp1 NA18988.hp2 HG00544.hp1 HG02083.hp1 NA18988.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0036 a0002c0002t0002g0235 a0002c0002t0002g0036 a0002c0002t0002g0235	3	358	0.0084	20	c.291 others(37): Show c.291-1521_291-1520insGTTATGTTATGTTATGTTAT	STARD7	ENSG00000084090.14	transcript	ENST00000337288.10	protein_coding	1/7			chr2	TogoVar
STARD7_chr2_96179859_96213827	96201409	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02647.hp1 HG06807.hp1 others(1): Show HG02055.hp1 HG02647.hp1 HG06807.hp1 NA18967.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0002 a0002c0003t0007 a0001c0001t0002 a0002c0003t0002 a0002c0003t0007	a0001c0001t0002g0158 a0002c0003t0002g0197 a0002c0003t0002g0198 others(1): Show a0001c0001t0002g0158 a0002c0003t0002g0197 a0002c0003t0002g0198 a0002c0003t0007g0266	4	358	0.0112	20	c.291 others(37): Show c.291-5861_291-5860insTTTTTTTTTTTTTTTTTTTT	STARD7	ENSG00000084090.14	transcript	ENST00000337288.10	protein_coding	1/7			chr2	TogoVar
STARD8_chrX_68642666_68730836	68652872	C C	CACACACA others(13): Show CACACACACACCACACACACA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0174 a0002c0002t0009g0174	1	199	0.0050	20	c.45+ others(35): Show c.45+4945_45+4946insACACACACACCACACACACA	STARD8	ENSG00000130052.14	transcript	ENST00000374599.8	protein_coding	1/14			chrX	TogoVar
STARD8_chrX_68642666_68730836	68652872	C C	CCCACACA others(13): Show CCCACACACACCACACACACA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00544.hp1 others(190): Show HG00140.hp1 HG00280.hp1 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18948.hp1 NA18952.hp1 NA18955.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18971.hp1 NA18977.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18994.hp1 NA18995.hp1 NA19000.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19056.hp1 NA19060.hp1 NA19062.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19075.hp1 NA19076.hp1 NA19079.hp1 NA19082.hp1 NA19083.hp1 NA19085.hp1 NA19088.hp1 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017	a0001c0001 a0001c0004 a0001c0005 others(19): Show a0001c0001 a0001c0004 a0001c0005 a0001c0007 a0001c0014 a0001c0023 a0002c0002 a0003c0003 a0003c0006 a0005c0008 a0006c0010 a0007c0009 a0008c0019 a0009c0021 a0010c0015 a0011c0018 a0012c0012 a0013c0016 a0014c0013 a0015c0020 a0016c0022 a0017c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(44): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0025 a0001c0001t0026 a0001c0001t0029 a0001c0001t0030 a0001c0004t0002 a0001c0005t0001 a0001c0005t0020 a0001c0005t0022 a0001c0007t0013 a0001c0014t0002 a0001c0023t0001 a0002c0002t0005 a0002c0002t0006 a0002c0002t0009 a0003c0003t0005 a0003c0003t0006 a0003c0003t0017 a0003c0006t0005 a0003c0006t0008 a0003c0006t0028 a0005c0008t0001 a0006c0010t0021 a0006c0010t0027 a0007c0009t0001 a0008c0019t0001 a0009c0021t0031 a0010c0015t0001 a0011c0018t0001 a0012c0012t0023 a0013c0016t0024 a0014c0013t0019 a0015c0020t0001 a0016c0022t0001 a0017c0017t0012	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(188): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0001g0180 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0028 a0001c0001t0003g0026 a0001c0001t0003g0061 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0136 a0001c0001t0003g0159 a0001c0001t0004g0007 a0001c0001t0004g0064 a0001c0001t0004g0067 a0001c0001t0004g0102 a0001c0001t0004g0125 a0001c0001t0004g0144 a0001c0001t0004g0151 a0001c0001t0007g0118 a0001c0001t0007g0119 a0001c0001t0007g0158 a0001c0001t0007g0163 a0001c0001t0008g0066 a0001c0001t0008g0108 a0001c0001t0010g0012 a0001c0001t0010g0094 a0001c0001t0011g0186 a0001c0001t0011g0187 a0001c0001t0012g0089 a0001c0001t0014g0176 a0001c0001t0015g0032 a0001c0001t0016g0194 a0001c0001t0018g0019 a0001c0001t0025g0016 a0001c0001t0026g0142 a0001c0001t0029g0011 a0001c0001t0030g0172 a0001c0004t0002g0021 a0001c0004t0002g0164 a0001c0004t0002g0165 a0001c0004t0002g0166 a0001c0005t0001g0104 a0001c0005t0001g0133 a0001c0005t0020g0030 a0001c0005t0022g0109 a0001c0007t0013g0041 a0001c0007t0013g0188 a0001c0014t0002g0178 a0001c0023t0001g0078 a0002c0002t0005g0181 a0002c0002t0005g0190 a0002c0002t0006g0020 a0002c0002t0006g0179 a0002c0002t0006g0182 a0002c0002t0009g0031 a0002c0002t0009g0197 a0003c0003t0005g0023 a0003c0003t0005g0173 a0003c0003t0005g0183 a0003c0003t0006g0043 a0003c0003t0017g0029 a0003c0006t0005g0073 a0003c0006t0008g0195 a0003c0006t0028g0177 a0005c0008t0001g0051 a0005c0008t0001g0075 a0006c0010t0021g0008 a0006c0010t0027g0022 a0007c0009t0001g0052 a0007c0009t0001g0107 a0008c0019t0001g0146 a0009c0021t0031g0014 a0010c0015t0001g0114 a0011c0018t0001g0036 a0012c0012t0023g0095 a0013c0016t0024g0037 a0014c0013t0019g0017 a0015c0020t0001g0129 a0016c0022t0001g0097 a0017c0017t0012g0040	193	199	0.9699	20	c.45+ others(35): Show c.45+4951_45+4952insACACCACACACACACCACAC	STARD8	ENSG00000130052.14	transcript	ENST00000374599.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chrX	TogoVar
STARD8_chrX_68642666_68730836	68661966	C C	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0179 a0002c0002t0006g0179	1	199	0.0050	20	c.46- others(35): Show c.46-3530_46-3529insTTCTTTCTTTCTTTCTTTCT	STARD8	ENSG00000130052.14	transcript	ENST00000374599.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chrX	TogoVar
STARD8_chrX_68642666_68730836	68668236	C C	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	199	0.0050	20	c.79+ others(35): Show c.79+2724_79+2743dupTTCTTTCTTTCTTTCTTTCT	STARD8	ENSG00000130052.14	transcript	ENST00000374599.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chrX	TogoVar
STAR_chr8_38137700_38155952	38142491	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG01952.hp1 HG01952.hp2 others(2): Show HG00621.hp2 HG01952.hp1 HG01952.hp2 NA19060.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0048 a0001c0001t0001g0050 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0003g0003	5	436	0.0115	20	c.17 others(31): Show c.1762_*1781dupCACACACACACACACACACA	STAR	ENSG00000147465.12	transcript	ENST00000276449.9	protein_coding		208		chr8	TogoVar
STAT1_chr2_190964149_191019171	190966535	T T	TATATATA others(13): Show TATATATATACACATATACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG02040.hp1 HG02083.hp2 others(14): Show HG01257.hp1 HG02040.hp1 HG02083.hp2 HG04199.hp2 NA18950.hp2 NA18953.hp2 NA18967.hp1 NA18973.hp1 NA18973.hp2 NA18993.hp1 NA18998.hp1 NA19000.hp1 NA19005.hp1 NA19057.hp2 NA19077.hp1 NA19080.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0080 others(12): Show a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0080 a0001c0001t0001g0158 a0001c0001t0001g0164 a0001c0001t0001g0207 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0311 a0001c0001t0001g0333 a0001c0002t0001g0058 a0001c0002t0001g0266	17	414	0.0411	20	c.41 others(31): Show c.4167_*4168insGTGTATATGTGTATATATAT	STAT1	ENSG00000115415.21	transcript	ENST00000361099.8	protein_coding		2613		chr2	TogoVar
STAT2_chr12_56336597_56365107	56354012	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	268	0.0037	20	c.782 others(35): Show c.782+453_782+454insATATATATATATATATATAT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56354016	A A	AAAATATA others(13): Show AAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	268	0.0037	20	c.782 others(35): Show c.782+449_782+450insATATATATATATATATATTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23			chr12	TogoVar
STAT3_chr17_42308324_42393442	42338301	G G	GGACCTGA others(13): Show GGACCTGAGGGAATACTCCTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0286 a0001c0001t0003g0286	1	302	0.0033	20	c.550 others(35): Show c.550+429_550+430insAAGGAGTATTCCCTCAGGTC	STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23			chr17	TogoVar
STAT3_chr17_42308324_42393442	42338441	G G	GGACCTGA others(13): Show GGACCTGAGGGAATACTCCTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0286 a0001c0001t0003g0286	1	302	0.0033	20	c.550 others(35): Show c.550+289_550+290insAAGGAGTATTCCCTCAGGTC	STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23			chr17	TogoVar
STAT3_chr17_42308324_42393442	42338481	G G	GGACCTGA others(13): Show GGACCTGAGGGAATACTCCTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG02559.hp1 others(2): Show HG01891.hp1 HG02055.hp1 HG02559.hp1 HG02622.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0027 a0001c0001t0035 a0001c0001t0003 a0001c0001t0027 a0001c0001t0035	a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0108 others(2): Show a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0108 a0001c0001t0027g0056 a0001c0001t0035g0147	5	302	0.0166	20	c.550 others(35): Show c.550+230_550+249dupAAGGAGTATTCCCTCAGGTC	STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23			chr17	TogoVar
STAT3_chr17_42308324_42393442	42338541	G G	GGACCTGA others(13): Show GGACCTGAGGGAATACTCCTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0290 a0001c0001t0003g0290	1	302	0.0033	20	c.550 others(35): Show c.550+189_550+190insAAGGAGTATTCCCTCAGGTC	STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23			chr17	TogoVar
STAT3_chr17_42308324_42393442	42358933	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01516.hp1 HG02148.hp2 others(1): Show HG00642.hp1 HG01516.hp1 HG02148.hp2 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0003 a0001c0001t0010	a0001c0001t0003g0282 a0001c0001t0003g0287 a0001c0001t0003g0290 others(1): Show a0001c0001t0003g0282 a0001c0001t0003g0287 a0001c0001t0003g0290 a0001c0001t0010g0291	4	302	0.0133	20	c.-23 others(39): Show c.-23-10395_-23-10394insAAAAAAAAAAAAAAAAAAAA	STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	1/23			chr17	TogoVar
STAT4_chr2_191024576_191155994	191125476	T T	TTATTATT others(13): Show TTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA18987.hp1 HG02135.hp2 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0218 a0001c0001t0001g0080 a0001c0001t0001g0218	2	290	0.0069	20	c.273 others(39): Show c.273+21136_273+21137insTAATAATAATAATAATAATA	STAT4	ENSG00000138378.19	transcript	ENST00000392320.7	protein_coding	3/23			chr2	TogoVar
STAT5B_chr17_42194177_42281391	42227136	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02080.hp1 HG02523.hp1 others(2): Show HG01891.hp1 HG02080.hp1 HG02523.hp1 HG02572.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0030 a0001c0001t0001g0112 a0001c0001t0001g0122 others(2): Show a0001c0001t0001g0030 a0001c0001t0001g0112 a0001c0001t0001g0122 a0001c0001t0001g0217 a0001c0001t0007g0243	5	260	0.0192	20	c.285 others(35): Show c.285+373_285+392dupATTTATTTATTTATTTATTT	STAT5B	ENSG00000173757.11	transcript	ENST00000293328.8	protein_coding	3/18			chr17	TogoVar
STAT5B_chr17_42194177_42281391	42262970	G G	GTGTATAT others(13): Show GTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	260	0.0039	20	c.-11 others(39): Show c.-11+13277_-11+13278insTATATATATATATATATACA	STAT5B	ENSG00000173757.11	transcript	ENST00000293328.8	protein_coding	1/18			chr17	TogoVar
STAT5B_chr17_42194177_42281391	42265377	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02818.hp1 HG03471.hp1 HG02486.hp2 HG02818.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0025 a0001c0001t0002 a0001c0001t0025	a0001c0001t0002g0003 a0001c0001t0002g0232 a0001c0001t0025g0231 a0001c0001t0002g0003 a0001c0001t0002g0232 a0001c0001t0025g0231	3	260	0.0115	20	c.-11 others(39): Show c.-11+10870_-11+10871insAAAAAAAAAAAAAAAAAAAA	STAT5B	ENSG00000173757.11	transcript	ENST00000293328.8	protein_coding	1/18			chr17	TogoVar
STAT6_chr12_57090408_57116362	57100700	G G	GAAAGAAA others(13): Show GAAAGAAAGAAAGAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0283 a0001c0001t0008g0283	1	368	0.0027	20	c.151 others(37): Show c.1513-611_1513-610insTTCTTTCTCTTTCTTTCTTT	STAT6	ENSG00000166888.12	transcript	ENST00000300134.8	protein_coding	13/21			chr12	TogoVar
STAU1_chr20_49108339_49193334	49125198	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0129 a0001c0001t0003g0129	1	366	0.0027	20	c.610 others(35): Show c.610-631_610-612dupTTTTTTTTTTTTTTTTTTTT	STAU1	ENSG00000124214.21	transcript	ENST00000371856.7	protein_coding	6/13			chr20	TogoVar
STAU1_chr20_49108339_49193334	49134432	G G	GAAAAAAA others(13): Show GAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02109.hp1 HG02622.hp2 others(6): Show HG02080.hp2 HG02109.hp1 HG02622.hp2 HG02809.hp1 HG02970.hp1 HG03579.hp1 NA18906.hp2 NA18978.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0158 a0001c0001t0002g0219 a0001c0001t0002g0312 others(6): Show a0001c0001t0001g0158 a0001c0001t0002g0219 a0001c0001t0002g0312 a0001c0001t0005g0353 a0001c0001t0005g0354 a0001c0001t0005g0358 a0001c0001t0005g0359 a0001c0001t0005g0360 a0001c0001t0005g0362	9	366	0.0246	20	c.609 others(37): Show c.609+1400_609+1401insTTTTTTTTTTTTTTTTTTTT	STAU1	ENSG00000124214.21	transcript	ENST00000371856.7	protein_coding	6/13			chr20	TogoVar
STAU2_chr8_73415369_73751840	73436568	T T	TTTTATTT others(13): Show TTTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	240	0.0042	20	c.153 others(41): Show c.1531-13886_1531-13867dupTAAATAAATAAATAAATAAA	STAU2	ENSG00000040341.18	transcript	ENST00000524300.6	protein_coding	13/14			chr8	TogoVar
STAU2_chr8_73415369_73751840	73479472	G G	GCACACAC others(13): Show GCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02615.hp2 HG03098.hp1 others(1): Show HG01433.hp1 HG02615.hp2 HG03098.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0027 a0001c0001t0001g0036 others(1): Show a0001c0001t0001g0016 a0001c0001t0001g0027 a0001c0001t0001g0036 a0001c0001t0001g0109	4	240	0.0167	20	c.153 others(41): Show c.1531-56790_1531-56771dupTGTGTGTGTGTGTGTGTGTG	STAU2	ENSG00000040341.18	transcript	ENST00000524300.6	protein_coding	13/14			chr8	TogoVar
STAU2_chr8_73415369_73751840	73495662	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00673.hp2 HG00735.hp2 others(10): Show HG00438.hp2 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01109.hp2 HG01243.hp2 HG01516.hp2 HG02155.hp1 HG03453.hp2 NA18971.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0005 a0001c0003t0001 a0001c0001t0001 a0001c0001t0005 a0001c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0124 others(10): Show a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0204 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0005g0053 a0001c0003t0001g0029	13	240	0.0542	20	c.153 others(41): Show c.1530+56330_1530+56349dupATATATATATATATATATAT	STAU2	ENSG00000040341.18	transcript	ENST00000524300.6	protein_coding	13/14			chr8	TogoVar
STAU2_chr8_73415369_73751840	73654637	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	240	0.0042	20	c.410 others(39): Show c.410+18450_410+18469dupTTTTTTTTTTTTTTTTTTTT	STAU2	ENSG00000040341.18	transcript	ENST00000524300.6	protein_coding	6/14			chr8	TogoVar
STAU2_chr8_73415369_73751840	73720499	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	240	0.0042	20	c.-17 others(39): Show c.-17-11357_-17-11338dupAAAAAAAAAAAAAAAAAAAA	STAU2	ENSG00000040341.18	transcript	ENST00000524300.6	protein_coding	3/14			chr8	TogoVar
STC1_chr8_23836929_23859806	23858358	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0105 a0001c0001t0008g0105	1	444	0.0023	20	c.-38 others(31): Show c.-3836_-3835insGCACACACACACACACACAC	STC1	ENSG00000159167.12	transcript	ENST00000290271.7	protein_coding		3553		chr8	TogoVar
STC2_chr5_173309723_173333414	173318266	A A	AAGAGAGA others(13): Show AAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01261.hp2 HG02723.hp1 HG01167.hp1 HG01261.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0027 a0001c0001t0001 a0001c0001t0014 a0001c0001t0027	a0001c0001t0001g0175 a0001c0001t0014g0106 a0001c0001t0027g0116 a0001c0001t0001g0175 a0001c0001t0014g0106 a0001c0001t0027g0116	3	448	0.0067	20	c.507 others(33): Show c.507-37_507-18dupCTCTCTCTCTCTCTCTCTCT	STC2	ENSG00000113739.11	transcript	ENST00000265087.9	protein_coding	3/3			chr5	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATTT others(13): Show ATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02155.hp1 HG01952.hp2 HG02155.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0033 a0002c0002t0001g0256 a0001c0001t0001g0033 a0002c0002t0001g0256	2	384	0.0052	20	c.762 others(39): Show c.762+35592_762+35593insAAAAAAAAAAAAAAAATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22464948	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00621.hp2 HG01074.hp1 others(4): Show HG00140.hp2 HG00621.hp2 HG01074.hp1 HG01261.hp1 HG02055.hp1 HG02258.hp1 NA18995.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0008	a0001c0001 a0002c0002 a0005c0005 others(1): Show a0001c0001 a0002c0002 a0005c0005 a0008c0008	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0005c0005t0001 a0008c0008t0001	a0001c0001t0001g0083 a0001c0001t0001g0121 a0001c0001t0002g0097 others(4): Show a0001c0001t0001g0083 a0001c0001t0001g0121 a0001c0001t0002g0097 a0001c0001t0002g0100 a0002c0002t0001g0268 a0005c0005t0001g0358 a0008c0008t0001g0186	7	384	0.0182	20	c.762 others(39): Show c.762+27616_762+27617insATATATATATATATATATAT	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22464948	C C	CATATATA others(13): Show CATATATATATATATATATGT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03516.hp2 HG03540.hp1 others(1): Show HG02886.hp1 HG03516.hp2 HG03540.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0129 a0001c0001t0002g0180 others(1): Show a0001c0001t0002g0012 a0001c0001t0002g0129 a0001c0001t0002g0180 a0001c0001t0002g0341	4	384	0.0104	20	c.762 others(39): Show c.762+27616_762+27617insACATATATATATATATATAT	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22464949	A A	ATATATAT others(13): Show ATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0297 a0002c0002t0002g0297	1	384	0.0026	20	c.762 others(39): Show c.762+27615_762+27616insCATATATATATATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar

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