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
TMEM87B_chr2_112050269_112124314	112114243	TGTAGCAT others(69): Show TGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGAGGTAGCATTACA GAAAGATTCATAACTCTACAGAAAGAG	T T	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0176 a0002c0002t0003g0176	1	316	0.0032	-76	c.160 others(95): Show c.1608+1352_1608+1427delGGTAGCATTACAGAAAGATTCATAAC TCTACAGAAAGAGGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGA	TMEM87B	ENSG00000153214.11	transcript	ENST00000283206.9	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
TMEM87B_chr2_112050269_112124314	112114319	GGTAGCAT others(69): Show GGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGATGTAGCATTACA GAAAGATTCATAACTCTACAGAAAGAC	G G	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0113 a0002c0002t0004g0113	1	316	0.0032	-76	c.160 others(95): Show c.1608+1428_1608+1503delTGTAGCATTACAGAAAGATTCATAAC TCTACAGAAAGACGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGA	TMEM87B	ENSG00000153214.11	transcript	ENST00000283206.9	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
TMEM87B_chr2_112050269_112124314	112114357	TGTAGCAT others(69): Show TGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGACGTAGCATTACA GAAAGATTCATAACTCTACAGAAAGAC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01891.hp2 HG03098.hp2 others(1): Show HG00323.hp2 HG01891.hp2 HG03098.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0013 a0001c0001t0005 a0001c0001t0007 a0001c0001t0013	a0001c0001t0005g0257 a0001c0001t0007g0021 a0001c0001t0007g0110 others(1): Show a0001c0001t0005g0257 a0001c0001t0007g0021 a0001c0001t0007g0110 a0001c0001t0013g0285	4	316	0.0127	-76	c.160 others(95): Show c.1608+1466_1608+1541delCGTAGCATTACAGAAAGATTCATAAC TCTACAGAAAGACGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGA	TMEM87B	ENSG00000153214.11	transcript	ENST00000283206.9	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
TMEM87B_chr2_112050269_112124314	112114433	CGTAGCAT others(69): Show CGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGATGTAGCATTACA GAAAGATTCATAACTCTACAGAAAGAT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02572.hp2 NA18956.hp1 others(1): Show HG02145.hp1 HG02572.hp2 NA18956.hp1 NA18984.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0004 a0001c0001t0001 a0002c0002t0004	a0001c0001t0001g0187 a0001c0001t0001g0306 a0002c0002t0004g0111 others(1): Show a0001c0001t0001g0187 a0001c0001t0001g0306 a0002c0002t0004g0111 a0002c0002t0004g0115	4	316	0.0127	-76	c.160 others(95): Show c.1609-1575_1609-1500delTGTAGCATTACAGAAAGATTCATAAC TCTACAGAAAGATGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGA	TMEM87B	ENSG00000153214.11	transcript	ENST00000283206.9	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
TMEM87B_chr2_112050269_112124314	112114902	AAAGATTC others(69): Show AAAGATTCATAACTCTACAGAAAGAGGTAGCATTACAGAAAGATTCATAA CTCTACAGAAAGATGTAGCATTACAGG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00738.hp1 HG01261.hp2 others(38): Show HG00408.hp1 HG00738.hp1 HG01261.hp2 HG01361.hp2 HG01433.hp1 HG01516.hp2 HG01517.hp1 HG02015.hp2 HG02135.hp1 HG02148.hp2 HG02630.hp1 HG02970.hp2 HG03098.hp2 HG03486.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03710.hp1 HG03834.hp1 NA18939.hp2 NA18940.hp1 NA18954.hp2 NA18955.hp1 NA18960.hp2 NA18962.hp1 NA18968.hp1 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18992.hp2 NA18994.hp1 NA19000.hp2 NA19007.hp2 NA19009.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19068.hp2 NA19082.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0034 a0001c0001t0037 a0001c0001t0039 a0003c0003t0016	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(36): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0197 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0223 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0236 a0001c0001t0001g0247 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0276 a0001c0001t0006g0251 a0001c0001t0007g0021 a0001c0001t0007g0085 a0001c0001t0007g0110 a0001c0001t0011g0216 a0001c0001t0034g0213 a0001c0001t0037g0243 a0001c0001t0039g0201 a0003c0003t0016g0301 a0003c0003t0016g0302	41	316	0.1298	-76	c.160 others(95): Show c.1609-1119_1609-1044delTGTAGCATTACAGGAAGATTCATAAC TCTACAGAAAGAGGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGA	TMEM87B	ENSG00000153214.11	transcript	ENST00000283206.9	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
TMEM87B_chr2_112050269_112124314	112114940	AAAGATTC others(69): Show AAAGATTCATAACTCTACAGAAAGATGTAGCATTACAGGAAGATTCATAA CTCTACAGAAAGAGGTAGCATTACAGA	A A	intron_variant intron_variant	MODIFIER	HG04115.hp2 NA18974.hp1 NA19004.hp1 HG04115.hp2 NA18974.hp1 NA19004.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0245 a0001c0001t0001g0270 a0002c0002t0003g0143 a0001c0001t0001g0245 a0001c0001t0001g0270 a0002c0002t0003g0143	3	316	0.0095	-76	c.160 others(95): Show c.1609-1119_1609-1044delTGTAGCATTACAGGAAGATTCATAAC TCTACAGAAAGAGGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGA	TMEM87B	ENSG00000153214.11	transcript	ENST00000283206.9	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
TMEM87B_chr2_112050269_112124314	112115331	ACTCTACA others(69): Show ACTCTACAGAAAGATGTAGCATTACAGAAAGATTCATAACTACAGAAAGA TGTAGCATTACAGAAAGATTCATAACT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0110 a0001c0001t0007g0110	1	316	0.0032	-76	c.160 others(93): Show c.1609-750_1609-675delCTACAGAAAGATGTAGCATTACAGAAAG ATTCATAACTACAGAAAGATGTAGCATTACAGAAAGATTCATAACTCT	TMEM87B	ENSG00000153214.11	transcript	ENST00000283206.9	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
TMTC2_chr12_82681906_83139866	82901014	TGGAATAT others(69): Show TGGAATATATATATAGGAATATATATATATCTGGAATATATATATAGGAA TATATATATATCTGGAATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0002 a0002c0002t0006g0002	1	96	0.0104	-76	c.148 others(95): Show c.1483+4383_1483+4458delGGAATATATATATATCTGGAATATAT ATATAGGAATATATATATATCTGGAATATATATATAGGAATATATATATA	TMTC2	ENSG00000179104.9	transcript	ENST00000321196.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TNC_chr9_115014575_115123157	115069658	CCCTCCCT others(69): Show CCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTTCCTTCCTTCCTTCCTTCCTCCCTT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01123.hp2 others(7): Show HG01070.hp2 HG01071.hp1 HG01123.hp2 NA18956.hp2 NA18959.hp2 NA18971.hp1 NA18999.hp2 NA19056.hp1 NA19063.hp1 NA20805.hp2	a0001 a0003 a0019 a0001 a0003 a0019	a0001c0002 a0001c0011 a0003c0013 others(1): Show a0001c0002 a0001c0011 a0003c0013 a0019c0032	a0001c0002t0001 a0001c0002t0008 a0001c0002t0010 others(3): Show a0001c0002t0001 a0001c0002t0008 a0001c0002t0010 a0001c0011t0001 a0003c0013t0001 a0019c0032t0001	a0001c0002t0001g0138 a0001c0002t0001g0141 a0001c0002t0001g0142 others(7): Show a0001c0002t0001g0138 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0192 a0001c0002t0001g0306 a0001c0002t0008g0137 a0001c0002t0010g0330 a0001c0011t0001g0162 a0003c0013t0001g0272 a0019c0032t0001g0320	10	366	0.0273	-76	c.321 others(95): Show c.3214+3869_3214+3944delAAGGGAGGAAGGAAGGAAGGAAGGAA GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGG	TNC	ENSG00000041982.17	transcript	ENST00000350763.9	protein_coding	10/27			chr9	TogoVar
TNFRSF10B_chr8_23015133_23074031	23040294	TATATATA others(69): Show TATATATAATATATATTTAATAAATATATATACAAAATATATATTTATTA AATATATACAAAATATATATTTAATAA	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02723.hp2 HG03098.hp2 others(3): Show HG01192.hp1 HG02723.hp2 HG03098.hp2 HG03225.hp1 NA18963.hp1 NA19074.hp2	a0001 a0006 a0008 a0001 a0006 a0008	a0001c0001 a0006c0006 a0008c0007 a0001c0001 a0006c0006 a0008c0007	a0001c0001t0001 a0006c0006t0001 a0008c0007t0004 a0001c0001t0001 a0006c0006t0001 a0008c0007t0004	a0001c0001t0001g0202 a0001c0001t0001g0274 a0006c0006t0001g0126 others(3): Show a0001c0001t0001g0202 a0001c0001t0001g0274 a0006c0006t0001g0126 a0006c0006t0001g0127 a0006c0006t0001g0128 a0008c0007t0004g0359	6	384	0.0156	-76	c.250 others(93): Show c.250+2768_250+2843delTTATTAAATATATATTTTGTATATATTT AATAAATATATATTTTGTATATATATTTATTAAATATATATTATATAT	TNFRSF10B	ENSG00000120889.13	transcript	ENST00000276431.9	protein_coding	2/8			chr8	TogoVar
TNS1_chr2_217794791_218007995	217809447	GGATGGAT others(69): Show GGATGGATGGATGCATGGATGGATGGATGGATGGATGGATGGATGCATGG ATGGATGCATGGATGGATGGATGGATA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01106.hp2 HG02273.hp2 others(2): Show HG00140.hp2 HG01106.hp2 HG02273.hp2 HG02486.hp1 HG03834.hp2	a0001 a0008 a0022 a0001 a0008 a0022	a0001c0006 a0001c0013 a0008c0048 others(1): Show a0001c0006 a0001c0013 a0008c0048 a0022c0052	a0001c0006t0053 a0001c0006t0098 a0001c0013t0106 others(2): Show a0001c0006t0053 a0001c0006t0098 a0001c0013t0106 a0008c0048t0020 a0022c0052t0023	a0001c0006t0053g0040 a0001c0006t0098g0042 a0001c0013t0106g0109 others(2): Show a0001c0006t0053g0040 a0001c0006t0098g0042 a0001c0013t0106g0109 a0008c0048t0020g0208 a0022c0052t0023g0079	5	244	0.0205	-76	c.527 others(93): Show c.5273+300_5273+375delTATCCATCCATCCATCCATGCATCCATC CATGCATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCATC	TNS1	ENSG00000079308.21	transcript	ENST00000682258.1	protein_coding	30/32			chr2	TogoVar
TOR1AIP2_chr1_179834976_179882803	179850150	TCTTCATT others(69): Show TCTTCATTTTACAAACAGGAAATTGAAGCACCAGGAAGGGAAGATTTTCC CAAGGTCTCCCAAGTCAGCAAGTGGTA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0091 a0002c0011t0091	a0002c0011t0091g0174 a0002c0011t0091g0174	1	280	0.0036	-76	c.553 others(91): Show c.553+619_553+694delTACCACTTGCTGACTTGGGAGACCTTGGGA AAATCTTCCCTTCCTGGTGCTTCAATTTCCTGTTTGTAAAATGAAG	TOR1AIP2	ENSG00000169905.13	transcript	ENST00000609928.6	protein_coding	5/6			chr1	TogoVar
TOX_chr8_58800412_59124147	58949870	ATATAATA others(69): Show ATATAATATACAATTACATGTGTATAGTTCATATACACGTGTAATATACA ATTACATGTGTATAGTTCATATACACG	A A	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0182 a0001c0001t0002g0182	1	224	0.0045	-76	c.168 others(94): Show c.168+9997_168+10072delCGTGTATATGAACTATACACATGTAAT TGTATATTACACGTGTATATGAACTATACACATGTAATTGTATATTATA	TOX	ENSG00000198846.6	transcript	ENST00000361421.2	protein_coding	2/8			chr8	TogoVar
TOX_chr8_58800412_59124147	58949872	ATAATATA others(69): Show ATAATATACAATTACATGTGTATAGTTCATATACACGTGTAATATACAAT TACATGTGTATAGTTCATATACACGTG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA18970.hp1 HG02109.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0028 a0001c0001t0003g0222 a0001c0001t0001g0028 a0001c0001t0003g0222	2	224	0.0089	-76	c.168 others(94): Show c.168+9995_168+10070delCACGTGTATATGAACTATACACATGTA ATTGTATATTACACGTGTATATGAACTATACACATGTAATTGTATATTA	TOX	ENSG00000198846.6	transcript	ENST00000361421.2	protein_coding	2/8			chr8	TogoVar
TPPP_chr5_654862_698352	691645	AACCCCCA others(69): Show AACCCCCATCAAAACAGCAGCCCCCAAATACCCATCAAAACAGCAGCCCC CCAAACCCCATCAAAACAATAGCCCCC	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA18943.hp1 NA20805.hp1 others(1): Show HG02622.hp1 NA18943.hp1 NA20805.hp1 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0009 a0001c0002 a0001c0004 a0001c0009	a0001c0002t0037 a0001c0002t0095 a0001c0004t0037 others(1): Show a0001c0002t0037 a0001c0002t0095 a0001c0004t0037 a0001c0009t0096	a0001c0002t0037g0366 a0001c0002t0095g0365 a0001c0004t0037g0364 others(1): Show a0001c0002t0037g0366 a0001c0002t0095g0365 a0001c0004t0037g0364 a0001c0009t0096g0367	4	409	0.0098	-76	c.-5+ others(91): Show c.-5+1557_-5+1632delGGGGGCTATTGTTTTGATGGGGTTTGGGGG GCTGCTGTTTTGATGGGTATTTGGGGGCTGCTGTTTTGATGGGGGT	TPPP	ENSG00000171368.12	transcript	ENST00000360578.7	protein_coding	1/3			chr5	TogoVar
TRIO_chr5_14138342_14515204	14308649	TCATCCAT others(69): Show TCATCCATCCATCCATCCATCCATCCATCCATCCATTCATTCTCCTAATC ACCCAACCACCCATTCATTTGTCCATC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02258.hp2 HG03486.hp2 HG02257.hp1 HG02258.hp2 HG03486.hp2	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0005 a0003c0012t0005	a0003c0012t0005g0009 a0003c0012t0005g0010 a0003c0012t0005g0011 a0003c0012t0005g0009 a0003c0012t0005g0010 a0003c0012t0005g0011	3	198	0.0152	-76	c.150 others(95): Show c.1500+4092_1500+4167delTTCATTCTCCTAATCACCCAACCACC CATTCATTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA	TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding	8/56		INFO_REALIGN_3_PRIME	chr5	TogoVar
TRPC4AP_chr20_34997404_35097807	35097507	GTACACAC others(69): Show GTACACACGTGTGTATATATACATATGTACACACGTGTGTATATATACAT ATGTACACACGTGTGTATATATACATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp1 NA18946.hp2 NA18967.hp1 HG03017.hp1 NA18946.hp2 NA18967.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0078 a0001c0002t0001g0090 a0001c0002t0001g0095 a0001c0002t0001g0078 a0001c0002t0001g0090 a0001c0002t0001g0095	3	334	0.0090	-76	c.-48 others(87): Show c.-4802_-4727delTATGTATATATACACACGTGTGTACATATGTATA TATACACACGTGTGTACATATGTATATATACACACGTGTGTA	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4701		chr20	TogoVar
TRPV5_chr7_142903101_142938746	142924277	TATACATA others(69): Show TATACATATACATGTATATATATACATATATATATACACACATATACATG TATATATATACATATATATATATATAG	T T	intron_variant intron_variant	MODIFIER	HG01175.hp1 NA18960.hp2 HG01175.hp1 NA18960.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0021 a0001c0001 a0009c0021	a0001c0001t0001 a0009c0021t0001 a0001c0001t0001 a0009c0021t0001	a0001c0001t0001g0089 a0009c0021t0001g0127 a0001c0001t0001g0089 a0009c0021t0001g0127	2	253	0.0079	-76	c.112 others(95): Show c.1122+1176_1122+1251delCTATATATATATATATGTATATATAT ACATGTATATGTGTGTATATATATATGTATATATATACATGTATATGTAT	TRPV5	ENSG00000127412.7	transcript	ENST00000265310.6	protein_coding	8/14			chr7	TogoVar
TRPV5_chr7_142903101_142938746	142924301	CATATATA others(69): Show CATATATATATACACACATATACATGTATATATATACATATATATATATA TAGACATATACATGTATATATATACAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00423.hp2 others(86): Show HG00140.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01169.hp1 HG01175.hp2 HG01255.hp1 HG01258.hp1 HG01361.hp1 HG01516.hp1 HG01517.hp1 HG01891.hp2 HG01934.hp2 HG01952.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02080.hp1 HG02080.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02280.hp2 HG02300.hp2 HG02559.hp2 HG02602.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG03017.hp1 HG03225.hp1 HG03540.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03942.hp2 HG04184.hp1 HG04204.hp2 HG06807.hp1 NA18612.hp1 NA18747.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18948.hp1 NA18948.hp2 NA18952.hp1 NA18952.hp2 NA18957.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18968.hp2 NA18969.hp2 NA18972.hp1 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18990.hp2 NA18999.hp1 NA19005.hp2 NA19011.hp1 NA19054.hp1 NA19057.hp2 NA19062.hp1 NA19064.hp1 NA19079.hp1 NA19082.hp2 NA19084.hp2 NA19091.hp1 NA19091.hp2 NA20805.hp2	a0001 a0005 a0013 a0001 a0005 a0013	a0001c0001 a0005c0020 a0013c0015 a0001c0001 a0005c0020 a0013c0015	a0001c0001t0001 a0001c0001t0004 a0005c0020t0001 others(1): Show a0001c0001t0001 a0001c0001t0004 a0005c0020t0001 a0013c0015t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(53): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0159 a0001c0001t0004g0035 a0005c0020t0001g0114 a0013c0015t0001g0170	89	253	0.3518	-76	c.112 others(95): Show c.1122+1152_1122+1227delATGTATATATATACATGTATATGTCT ATATATATATATATGTATATATATACATGTATATGTGTGTATATATATAT	TRPV5	ENSG00000127412.7	transcript	ENST00000265310.6	protein_coding	8/14			chr7	TogoVar
TSPAN11_chr12_30921748_31001599	30957745	CTCCCTCC others(69): Show CTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCTT CCTTCCCTCCTTCCTTCCTTCCCTCCT	C C	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0380 a0001c0001t0005g0380	1	394	0.0025	-76	c.84+ others(91): Show c.84+3678_84+3753delTTCCTTCCTTCCTTCCTTCCTTCCCTCCCT CCCTCCCTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCCTCC	TSPAN11	ENSG00000110900.16	transcript	ENST00000546076.6	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
TSPAN11_chr12_30921748_31001599	30957761	TTCCTTCC others(69): Show TTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCTTCCTTCCCTCCTTCCTT CCTTCCCTCCTTCCCTCCCTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0369 a0001c0001t0014g0369	1	394	0.0025	-76	c.84+ others(91): Show c.84+3702_84+3777delCTCCCTCCCTCCCTCCTTCCTTCCCTCCTT CCTTCCTTCCCTCCTTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCC	TSPAN11	ENSG00000110900.16	transcript	ENST00000546076.6	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
TSPAN9_chr12_3072379_3291559	3095678	GGCTCCTC others(69): Show GGCTCCTCACTTCCCAGATGGGGCGGCGGGGCAGAGGCGCTCCCCACATC TCAGACGATGGGCGGCCGGGCAGAGAC	G G	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	288	0.0035	-76	c.-18 others(95): Show c.-18+11973_-18+12048delCAGATGGGGCGGCGGGGCAGAGGCGC TCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCC	TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TTC21B_chr2_165868362_165958776	165927096	ATATATAT others(69): Show ATATATATATATATATCCTAGTAGATATATATATATATATATCCTAGTAG TTATATATATATATATATCCTAACAGT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02486.hp2 HG02622.hp1 others(4): Show HG01496.hp1 HG02486.hp2 HG02622.hp1 HG02970.hp1 HG03041.hp1 HG03225.hp1 HG03453.hp1	a0005 a0015 a0016 a0005 a0015 a0016	a0005c0007 a0015c0016 a0016c0030 a0005c0007 a0015c0016 a0016c0030	a0005c0007t0001 a0005c0007t0015 a0015c0016t0001 others(1): Show a0005c0007t0001 a0005c0007t0015 a0015c0016t0001 a0016c0030t0001	a0005c0007t0001g0006 a0005c0007t0001g0081 a0005c0007t0001g0083 others(3): Show a0005c0007t0001g0006 a0005c0007t0001g0081 a0005c0007t0001g0083 a0005c0007t0015g0082 a0015c0016t0001g0080 a0016c0030t0001g0277	7	408	0.0172	-76	c.138 others(95): Show c.1386+1963_1386+2038delACTGTTAGGATATATATATATATATA ACTACTAGGATATATATATATATATATCTACTAGGATATATATATATATA	TTC21B	ENSG00000123607.16	transcript	ENST00000243344.8	protein_coding	11/28			chr2	TogoVar
TTC5_chr14_20281227_20310951	20309952	GGCCGCCC others(69): Show GGCCGCCCATCGTCTGAGATGTGGGGAGCGCCTCTGCCCCGCCGCCCCGT CTGGGAGGTGAGGAGCGTCTCTGCCCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0205 a0001c0002t0011g0205	1	416	0.0024	-76	c.-40 others(87): Show c.-4091_-4016delTGGGCAGAGACGCTCCTCACCTCCCAGACGGGGC GGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGC	TTC5	ENSG00000136319.12	transcript	ENST00000258821.8	protein_coding		4002		chr14	TogoVar
TUBGCP2_chr10_133273635_133313872	133291823	CTCCGTGT others(69): Show CTCCGTGTCCCCCATGTCCCTCCGTGTCCCTGTGTCCCGGGGAGCCCTAC CTGTACGGGAGAGGGCAGCATGCACCG	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0079 a0002c0003t0002g0079	1	284	0.0035	-76	c.121 others(93): Show c.1214+600_1214+675delCGGTGCATGCTGCCCTCTCCCGTACAGG TAGGGCTCCCCGGGACACAGGGACACGGAGGGACATGGGGGACACGGA	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
TUBGCP2_chr10_133273635_133313872	133292293	ATGTCCCC others(69): Show ATGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGC ACACTCCGTGTCCCCCGTGTCCCTCCG	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	284	0.0035	-76	c.121 others(93): Show c.1214+130_1214+205delCGGAGGGACACGGGGGACACGGAGTGTG CATGCTGCCCTCTCCCGTACAGGTAGGGCTCCCCGGGACACGGGGACA	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
TUBGCP3_chr13_112480011_112593153	112493070	CCCTGAGA others(69): Show CCCTGAGACGCTCTGGCTTTGGGAACGGGGCCTGGTGTGCCTGAGACACT CTGGCTTTGGGAACGGGGCCTGGTGTG	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0126 a0001c0001t0002g0126	1	312	0.0032	-76	c.244 others(95): Show c.2449-3449_2449-3374delCACACCAGGCCCCGTTCCCAAAGCCA GAGTGTCTCAGGCACACCAGGCCCCGTTCCCAAAGCCAGAGCGTCTCAGG	TUBGCP3	ENSG00000126216.15	transcript	ENST00000261965.8	protein_coding	20/21			chr13	TogoVar
TUBGCP3_chr13_112480011_112593153	112493817	AGGGCCTG others(69): Show AGGGCCTGGTATCCCTCAGACGCTCTAGCTATAGGAACATGGCCTGGTGT GCCTGAGACACTCTGGCTATAGGAATG	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03225.hp2 HG03471.hp1 others(1): Show HG02895.hp2 HG03225.hp2 HG03471.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0162 a0001c0002t0001g0164 a0001c0002t0001g0165 others(1): Show a0001c0002t0001g0162 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0166	4	312	0.0128	-76	c.244 others(95): Show c.2449-4196_2449-4121delCATTCCTATAGCCAGAGTGTCTCAGG CACACCAGGCCATGTTCCTATAGCTAGAGCGTCTGAGGGATACCAGGCCC	TUBGCP3	ENSG00000126216.15	transcript	ENST00000261965.8	protein_coding	20/21			chr13	TogoVar
TUBGCP3_chr13_112480011_112593153	112494019	CCCTGAGA others(69): Show CCCTGAGACACTCTAGCTTTGGGAATGGGGCCTGGTGTCCCTGAGACACT CTAGCTATGGGAACGGGGCCTGGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0152 a0001c0003t0002g0152	1	312	0.0032	-76	c.244 others(95): Show c.2449-4398_2449-4323delCACACCAGGCCCCGTTCCCATAGCTA GAGTGTCTCAGGGACACCAGGCCCCATTCCCAAAGCTAGAGTGTCTCAGG	TUBGCP3	ENSG00000126216.15	transcript	ENST00000261965.8	protein_coding	20/21			chr13	TogoVar
TULP4_chr6_158307465_158516828	158491432	TCTTTCTT others(69): Show TCTTTCTTTCTTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01192.hp2 HG01978.hp1 others(8): Show HG01169.hp1 HG01192.hp2 HG01978.hp1 HG02630.hp1 HG02738.hp2 HG02896.hp2 HG02897.hp1 HG03239.hp2 HG03492.hp1 NA20129.hp2 NA20752.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0011 a0002c0010 others(2): Show a0001c0001 a0001c0011 a0002c0010 a0002c0043 a0005c0044	a0001c0001t0030 a0001c0011t0057 a0001c0011t0058 others(6): Show a0001c0001t0030 a0001c0011t0057 a0001c0011t0058 a0001c0011t0069 a0002c0010t0013 a0002c0010t0076 a0002c0010t0077 a0002c0043t0013 a0005c0044t0013	a0001c0001t0030g0092 a0001c0011t0057g0145 a0001c0011t0058g0146 others(8): Show a0001c0001t0030g0092 a0001c0011t0057g0145 a0001c0011t0058g0146 a0001c0011t0069g0149 a0002c0010t0013g0081 a0002c0010t0013g0096 a0002c0010t0013g0097 a0002c0010t0076g0095 a0002c0010t0077g0101 a0002c0043t0013g0100 a0005c0044t0013g0113	11	268	0.0410	-76	c.163 others(95): Show c.1631+1701_1631+1776delCTTTCTTTCTTTTCTTTCTTTCTTTT CTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	TULP4	ENSG00000130338.13	transcript	ENST00000367097.8	protein_coding	9/13			chr6	TogoVar
TUT4_chr1_52418275_52558092	52499677	TGAAATGA others(69): Show TGAAATGAGATTGCACCACTGCAGTCCAGCTTGAGCAACAAACAAGACCT TGTTTCAAAAAAATAAAATAAAAATAA	T T	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0225 a0001c0004t0001g0225	1	250	0.0040	-76	c.100 others(95): Show c.1000-2570_1000-2495delTTATTTTTATTTTATTTTTTTGAAAC AAGGTCTTGTTTGTTGCTCAAGCTGGACTGCAGTGGTGCAATCTCATTTC	TUT4	ENSG00000134744.14	transcript	ENST00000257177.9	protein_coding	4/29			chr1	TogoVar
TXNRD2_chr22_19870522_19946818	19909774	CCACACAC others(69): Show CCACACACACCACACACACACCACTCACACACACCACTCACACACACACC ACACACCACACACACCCACACCCTTCA	C C	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0124 a0003c0003t0001g0124	1	372	0.0027	-76	c.662 others(93): Show c.662+1527_662+1602delTGAAGGGTGTGGGTGTGTGTGGTGTGTG GTGTGTGTGTGAGTGGTGTGTGTGAGTGGTGTGTGTGTGGTGTGTGTG	TXNRD2	ENSG00000184470.21	transcript	ENST00000400521.7	protein_coding	8/17			chr22	TogoVar
TYMS_chr18_652653_678578	667417	GTGATGGT others(69): Show GTGATGGTGATGGAGATGGTGATGGTGATGGTGATGGTGATGATGGAGAT GGTGATGGTGATGGTGATGGTGATGGT	G G	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02055.hp2 HG01192.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0395 a0001c0001t0007g0391 a0001c0001t0002g0395 a0001c0001t0007g0391	2	482	0.0042	-76	c.455 others(93): Show c.455-1654_455-1579delTGATGGTGATGGAGATGGTGATGGTGAT GGTGATGGTGATGATGGAGATGGTGATGGTGATGGTGATGGTGATGGT	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6			chr18	TogoVar
UBE2J2_chr1_1248912_1278854	1269099	CCATGCAA others(69): Show CCATGCAAGAGAGGAGGCTGGATCAGGGACCCCAAGGCCCCTCAGCCACA CCCGAGACTGGGGAGAGGGGTGGTGAT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01891.hp2 HG03453.hp2 others(2): Show HG01123.hp2 HG01891.hp2 HG03453.hp2 HG03471.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0034 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0034	5	324	0.0154	-76	c.1-1 others(89): Show c.1-1183_1-1108delATCACCACCCCTCTCCCCAGTCTCGGGTGTGG CTGAGGGGCCTTGGGGTCCCTGATCCAGCCTCCTCTCTTGCATG	UBE2J2	ENSG00000160087.21	transcript	ENST00000349431.11	protein_coding	1/6			chr1	TogoVar
UIMC1_chr5_176900006_177011779	176984239	AGGAGTGC others(69): Show AGGAGTGCCTCTGCCCGGCCGGCCCATCTGGGATGTGAGGAGCGCCTCTG CCGGCCGCCACCCCGTCTGGGAAATGG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00558.hp1 HG00609.hp2 others(52): Show HG00280.hp2 HG00558.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00733.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01106.hp1 HG01255.hp2 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01884.hp1 HG01943.hp1 HG02027.hp1 HG02129.hp2 HG02155.hp2 HG02523.hp1 HG03654.hp2 HG03669.hp1 HG03834.hp2 HG04184.hp2 NA18612.hp2 NA18950.hp2 NA18952.hp2 NA18954.hp1 NA18959.hp1 NA18960.hp2 NA18961.hp1 NA18963.hp2 NA18968.hp1 NA18969.hp1 NA18978.hp2 NA18981.hp1 NA18992.hp2 NA18993.hp2 NA19000.hp2 NA19011.hp1 NA19056.hp1 NA19057.hp2 NA19063.hp2 NA19070.hp2 NA19076.hp2 NA19077.hp1 NA19078.hp2 NA19081.hp2 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19240.hp1 NA20805.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0002 a0002c0003 a0005c0010 a0001c0002 a0002c0003 a0005c0010	a0001c0002t0001 a0002c0003t0001 a0002c0003t0002 others(1): Show a0001c0002t0001 a0002c0003t0001 a0002c0003t0002 a0005c0010t0001	a0001c0002t0001g0134 a0001c0002t0001g0166 a0002c0003t0001g0002 others(51): Show a0001c0002t0001g0134 a0001c0002t0001g0166 a0002c0003t0001g0002 a0002c0003t0001g0117 a0002c0003t0001g0118 a0002c0003t0001g0119 a0002c0003t0001g0120 a0002c0003t0001g0121 a0002c0003t0001g0122 a0002c0003t0001g0123 a0002c0003t0001g0124 a0002c0003t0001g0125 a0002c0003t0001g0126 a0002c0003t0001g0127 a0002c0003t0001g0128 a0002c0003t0001g0129 a0002c0003t0001g0130 a0002c0003t0001g0131 a0002c0003t0001g0132 a0002c0003t0001g0133 a0002c0003t0001g0135 a0002c0003t0001g0136 a0002c0003t0001g0137 a0002c0003t0001g0138 a0002c0003t0001g0139 a0002c0003t0001g0140 a0002c0003t0001g0141 a0002c0003t0001g0142 a0002c0003t0001g0143 a0002c0003t0001g0144 a0002c0003t0001g0145 a0002c0003t0001g0146 a0002c0003t0001g0147 a0002c0003t0001g0148 a0002c0003t0001g0149 a0002c0003t0001g0150 a0002c0003t0001g0151 a0002c0003t0001g0152 a0002c0003t0001g0153 a0002c0003t0001g0154 a0002c0003t0001g0155 a0002c0003t0001g0156 a0002c0003t0001g0157 a0002c0003t0001g0158 a0002c0003t0001g0159 a0002c0003t0001g0161 a0002c0003t0001g0162 a0002c0003t0001g0163 a0002c0003t0001g0164 a0002c0003t0001g0165 a0002c0003t0001g0167 a0002c0003t0002g0007 a0002c0003t0002g0008 a0005c0010t0001g0160	55	330	0.1667	-76	c.-8- others(91): Show c.-8-1692_-8-1617delCCATTTCCCAGACGGGGTGGCGGCCGGCAG AGGCGCTCCTCACATCCCAGATGGGCCGGCCGGGCAGAGGCACTCC	UIMC1	ENSG00000087206.17	transcript	ENST00000511320.6	protein_coding	1/14			chr5	TogoVar
USP40_chr2_233470526_233571782	233567712	ATAGTTAT others(69): Show ATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGA TTATAGTTATATAACCTTATATAAGAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 HG03942.hp2 NA18906.hp1 HG03704.hp1 HG03942.hp2 NA18906.hp1	a0001 a0008 a0021 a0001 a0008 a0021	a0001c0001 a0008c0011 a0021c0024 a0001c0001 a0008c0011 a0021c0024	a0001c0001t0001 a0008c0011t0013 a0021c0024t0001 a0001c0001t0001 a0008c0011t0013 a0021c0024t0001	a0001c0001t0001g0237 a0008c0011t0013g0288 a0021c0024t0001g0087 a0001c0001t0001g0237 a0008c0011t0013g0288 a0021c0024t0001g0087	3	324	0.0093	-76	c.-11 others(87): Show c.-1124_-1049delATCTTATATAAGGTTATATAACTATAATCTTATA TAAGGTTATATAACTATAATCTTATATAAGGTTATATAACTA	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding		931		chr2	TogoVar
UVSSA_chr4_1342208_1393049	1379006	ACTGCTGG others(69): Show ACTGCTGGTCCCTTCTCCCTAGCGTGGGCCGTGCCTGGGGCTGTGCTCCT GTCTGTGGACCTGGGGTGAGGGCGGGG	A A	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18994.hp2 NA18995.hp2 others(1): Show NA18948.hp1 NA18994.hp2 NA18995.hp2 NA19077.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0198 a0003c0002t0002g0199 a0003c0002t0002g0200 others(1): Show a0003c0002t0002g0198 a0003c0002t0002g0199 a0003c0002t0002g0200 a0003c0002t0002g0222	4	400	0.0100	-76	c.156 others(94): Show c.1569-1033_1569-958delTCCCTTCTCCCTAGCGTGGGCCGTGCC TGGGGCTGTGCTCCTGTCTGTGGACCTGGGGTGAGGGCGGGGCTGCTGG	UVSSA	ENSG00000163945.19	transcript	ENST00000389851.10	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
VAPB_chr20_58384229_58456101	58427844	TGAAAGTG others(69): Show TGAAAGTGATCTGTGATCTGTTACCATTATGATGCAGGCGAAAGTGATCT GTGATCTGTTACCATTATGATGCAGGG	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0203 a0001c0001t0011g0203	1	370	0.0027	-76	c.212 others(93): Show c.212-6682_212-6607delGGAAAGTGATCTGTGATCTGTTACCATT ATGATGCAGGCGAAAGTGATCTGTGATCTGTTACCATTATGATGCAGG	VAPB	ENSG00000124164.16	transcript	ENST00000475243.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
VGLL4_chr3_11551069_11648915	11573240	AAATAGAG others(69): Show AAATAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00673.hp1 HG01243.hp1 others(18): Show HG00423.hp2 HG00673.hp1 HG01243.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG02683.hp2 HG02735.hp1 HG02818.hp2 HG02896.hp2 HG03130.hp1 HG03654.hp2 HG03710.hp1 NA18747.hp2 NA18943.hp2 NA18948.hp1 NA18950.hp1 NA18959.hp1 NA18959.hp2 NA18977.hp2 NA18990.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0036 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0036 a0001c0002t0002 a0001c0002t0004 a0001c0002t0011 a0001c0002t0033 a0001c0004t0009 a0001c0005t0003 a0002c0003t0001	a0001c0001t0001g0064 a0001c0001t0001g0157 a0001c0001t0001g0159 others(18): Show a0001c0001t0001g0064 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0002g0332 a0001c0001t0036g0288 a0001c0002t0002g0229 a0001c0002t0004g0205 a0001c0002t0011g0211 a0001c0002t0033g0222 a0001c0004t0009g0086 a0001c0005t0003g0227 a0001c0005t0003g0228 a0001c0005t0003g0232 a0002c0003t0001g0038 a0002c0003t0001g0075 a0002c0003t0001g0079	21	388	0.0541	-76	c.273 others(93): Show c.273-8297_273-8222delCCTTCCTTCCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTATT	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	2/4			chr3	TogoVar
VIPR2_chr7_159023175_159149867	159088856	AGCTCCTC others(69): Show AGCTCCTCATCTGGGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCT GTGGAATGGGAATAGCCTCAGGCCTCG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG00738.hp1 others(44): Show HG00408.hp1 HG00544.hp2 HG00738.hp1 HG01070.hp2 HG01074.hp2 HG01358.hp2 HG01361.hp2 HG01517.hp2 HG01993.hp2 HG02027.hp2 HG02135.hp1 HG02165.hp1 HG02602.hp2 HG02738.hp1 HG02818.hp2 HG02886.hp1 HG03654.hp2 HG03669.hp2 NA18747.hp2 NA18941.hp2 NA18946.hp1 NA18947.hp1 NA18952.hp2 NA18954.hp2 NA18960.hp1 NA18963.hp1 NA18966.hp1 NA18971.hp1 NA18978.hp2 NA18979.hp2 NA18982.hp1 NA18984.hp2 NA18985.hp1 NA18995.hp1 NA19002.hp1 NA19009.hp2 NA19057.hp1 NA19058.hp1 NA19065.hp1 NA19080.hp2 NA19084.hp1 NA19086.hp1 NA19087.hp2 NA19088.hp1 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0001c0006 others(4): Show a0001c0001 a0001c0003 a0001c0006 a0001c0020 a0001c0021 a0002c0011 a0005c0022	a0001c0001t0003 a0001c0001t0029 a0001c0001t0054 others(15): Show a0001c0001t0003 a0001c0001t0029 a0001c0001t0054 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0003t0014 a0001c0003t0017 a0001c0003t0020 a0001c0003t0027 a0001c0003t0039 a0001c0003t0046 a0001c0006t0002 a0001c0006t0055 a0001c0020t0003 a0001c0021t0003 a0002c0011t0015 a0005c0022t0003	a0001c0001t0003g0102 a0001c0001t0029g0065 a0001c0001t0054g0303 others(44): Show a0001c0001t0003g0102 a0001c0001t0029g0065 a0001c0001t0054g0303 a0001c0003t0001g0100 a0001c0003t0001g0104 a0001c0003t0001g0105 a0001c0003t0001g0107 a0001c0003t0001g0125 a0001c0003t0001g0137 a0001c0003t0001g0196 a0001c0003t0003g0094 a0001c0003t0003g0095 a0001c0003t0003g0096 a0001c0003t0003g0109 a0001c0003t0003g0110 a0001c0003t0003g0114 a0001c0003t0003g0115 a0001c0003t0003g0118 a0001c0003t0003g0119 a0001c0003t0003g0122 a0001c0003t0003g0124 a0001c0003t0003g0128 a0001c0003t0003g0129 a0001c0003t0003g0132 a0001c0003t0003g0134 a0001c0003t0003g0135 a0001c0003t0003g0136 a0001c0003t0003g0144 a0001c0003t0003g0261 a0001c0003t0004g0139 a0001c0003t0004g0142 a0001c0003t0014g0101 a0001c0003t0017g0133 a0001c0003t0017g0231 a0001c0003t0020g0106 a0001c0003t0027g0108 a0001c0003t0039g0112 a0001c0003t0046g0093 a0001c0006t0002g0113 a0001c0006t0002g0319 a0001c0006t0055g0130 a0001c0020t0003g0121 a0001c0021t0003g0117 a0002c0011t0015g0008 a0002c0011t0015g0023 a0002c0011t0015g0075 a0005c0022t0003g0116	47	336	0.1399	-76	c.357 others(95): Show c.357+14825_357+14900delCGAGGCCTGAGGCTATTCCCATTCCA CAGATGAGGAGCCGAGGCCTGAGGCTATTCCCATTCCCCAGATGAGGAGC	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	4/12			chr7	TogoVar
VIPR2_chr7_159023175_159149867	159088869	GGGAATGG others(69): Show GGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAAT AGCCTCAGGCCTCGGCTCCTCATCTGT	G G	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02145.hp2 HG02148.hp2 others(5): Show HG01255.hp2 HG02145.hp2 HG02148.hp2 HG03195.hp2 HG03834.hp2 NA18989.hp1 NA19004.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 others(1): Show a0001c0001 a0001c0003 a0001c0006 a0001c0023	a0001c0001t0045 a0001c0003t0001 a0001c0003t0003 others(4): Show a0001c0001t0045 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0003t0035 a0001c0006t0002 a0001c0023t0002	a0001c0001t0045g0285 a0001c0003t0001g0138 a0001c0003t0003g0127 others(5): Show a0001c0001t0045g0285 a0001c0003t0001g0138 a0001c0003t0003g0127 a0001c0003t0004g0140 a0001c0003t0004g0141 a0001c0003t0035g0098 a0001c0006t0002g0092 a0001c0023t0002g0123	8	336	0.0238	-76	c.357 others(95): Show c.357+14812_357+14887delACAGATGAGGAGCCGAGGCCTGAGGC TATTCCCATTCCACAGATGAGGAGCCGAGGCCTGAGGCTATTCCCATTCC	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	4/12			chr7	TogoVar
VRK3_chr19_49971468_50030372	50011656	CGTGTAGT others(69): Show CGTGTAGTTAAAACCAAACTCCCTCCCGTGGTCCTGCCTGTCTTCCCCCA GGCGGAAATGTTCCTCACTCCTCCAGT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA19030.hp2 HG02486.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0138 a0001c0001t0001g0132 a0001c0001t0001g0138	2	350	0.0057	-76	c.140 others(93): Show c.140-2347_140-2272delACTGGAGGAGTGAGGAACATTTCCGCCT GGGGGAAGACAGGCAGGACCACGGGAGGGAGTTTGGTTTTAACTACAC	VRK3	ENSG00000105053.11	transcript	ENST00000316763.8	protein_coding	3/14			chr19	TogoVar
VSTM2B_chr19_29520994_29569551	29566382	AGGTGTGA others(69): Show AGGTGTGATGGGCACAGGGGAGGGGCTGATGTGATAGGCACAGTGGAGAA GCTGGTGTGATGGGCACGGGAGGGGCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	406	0.0025	-76	c.24 others(87): Show c.2449_*2524delGGTGTGATGGGCACAGGGGAGGGGCTGATGTGAT AGGCACAGTGGAGAAGCTGGTGTGATGGGCACGGGAGGGGCT	VSTM2B	ENSG00000187135.8	transcript	ENST00000335523.8	protein_coding		1832		chr19	TogoVar
WDR70_chr5_37374318_37758435	37581184	GATGTAGA others(69): Show GATGTAGACAGTATCCTAAACAAAAAACACAATCAATCAAACTTTTCCCA GGACCCTCATATAGGGAACACTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp1 HG02258.hp1 others(12): Show HG01109.hp1 HG01243.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02809.hp2 HG02896.hp2 HG02965.hp1 HG03098.hp1 HG03195.hp1 HG03486.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0002c0008	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0007t0001 a0002c0008t0001	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0002t0001g0023 others(12): Show a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0002t0001g0023 a0001c0002t0001g0067 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0084 a0001c0004t0001g0064 a0001c0004t0001g0065 a0001c0007t0001g0068 a0002c0008t0001g0066	15	242	0.0620	-76	c.918 others(95): Show c.918-23863_918-23788delAAACAAAAAACACAATCAATCAAACT TTTCCCAGGACCCTCATATAGGGAACACTGGTGAATGTAGACAGTATCCT	WDR70	ENSG00000082068.9	transcript	ENST00000265107.9	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
WRAP73_chr1_3625770_3655103	3645341	AGCGGCGC others(69): Show AGCGGCGCAGCGGGATGGGCGGGTTGCCCCGTGGTGTGCGTGGCGCAGCG GGACGGGCGGGTTGCCCCGTGGTGTGC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00423.hp1 others(74): Show HG00099.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00673.hp1 HG00738.hp2 HG01099.hp2 HG01106.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG02027.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp2 HG02486.hp2 HG02523.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp2 HG02735.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG04115.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp2 NA18747.hp2 NA18940.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18960.hp1 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18969.hp1 NA18970.hp2 NA18972.hp1 NA18978.hp2 NA18979.hp2 NA18986.hp1 NA18990.hp1 NA18998.hp2 NA19000.hp1 NA19030.hp2 NA19055.hp1 NA19057.hp2 NA19066.hp2 NA19067.hp1 NA19070.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19084.hp1 NA19087.hp2 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0019 others(31): Show a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0033 a0001c0001t0001g0048 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0005g0046	77	382	0.2016	-76	c.339 others(93): Show c.339+1249_339+1324delGCACACCACGGGGCAACCCGCCCGTCCC GCTGCGCCACGCACACCACGGGGCAACCCGCCCATCCCGCTGCGCCGC	WRAP73	ENSG00000116213.16	transcript	ENST00000270708.12	protein_coding	3/11			chr1	TogoVar
WRAP73_chr1_3625770_3655103	3645432	CGGGCGGG others(69): Show CGGGCGGGTTGCCCCGTGGTGTGCGCCGTGCAGCGGGACGGGCGGGTTGC CCCGTGGTGTGCGCGGCGCAGCGGGAT	C C	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	2	382	0.0052	-76	c.339 others(93): Show c.339+1158_339+1233delATCCCGCTGCGCCGCGCACACCACGGGG CAACCCGCCCGTCCCGCTGCACGGCGCACACCACGGGGCAACCCGCCC	WRAP73	ENSG00000116213.16	transcript	ENST00000270708.12	protein_coding	3/11			chr1	TogoVar
WWOX_chr16_78094654_79217667	78321318	ATATATAT others(69): Show ATATATATACGTATATATGCGTATATATATACGTATATATGCGTATATAT ATACGTATATATGCGTATATATATACG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01346.hp2 HG01496.hp2 others(14): Show HG00741.hp1 HG01346.hp2 HG01496.hp2 HG02486.hp1 HG02559.hp2 HG02630.hp2 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG03139.hp1 HG03486.hp1 HG04204.hp1 NA18522.hp1 NA18982.hp1 NA19030.hp2 NA19043.hp2 NA19240.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0007 a0008 a0009 a0015	a0001c0001 a0002c0002 a0003c0004 others(5): Show a0001c0001 a0002c0002 a0003c0004 a0004c0006 a0007c0008 a0008c0009 a0009c0010 a0015c0025	a0001c0001t0001 a0001c0001t0013 a0002c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0013 a0002c0002t0001 a0003c0004t0003 a0004c0006t0001 a0004c0006t0004 a0007c0008t0020 a0008c0009t0007 a0009c0010t0001 a0015c0025t0001	a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0026 others(14): Show a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0033 a0001c0001t0013g0102 a0002c0002t0001g0010 a0002c0002t0001g0138 a0003c0004t0003g0101 a0004c0006t0001g0019 a0004c0006t0001g0130 a0004c0006t0001g0132 a0004c0006t0004g0082 a0007c0008t0020g0058 a0008c0009t0007g0005 a0009c0010t0001g0045 a0009c0010t0001g0125 a0015c0025t0001g0007	17	142	0.1197	-76	c.517 others(95): Show c.517-65524_517-65449delGCGTATATATATACGTATATATGCGT ATATATATACGTATATATGCGTATATATATACGTATATATACGTATATAT	WWOX	ENSG00000186153.19	transcript	ENST00000566780.6	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
WWOX_chr16_78094654_79217667	78422782	TATACACA others(69): Show TATACACACACACATATATATACACACACATATATATACACACACATATA TATATATACATATACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0113 a0001c0001t0004g0113	1	142	0.0070	-76	c.606 others(93): Show c.606-2086_606-2011delTACACACACACATATATATACACACACA TATATATACACACACATATATATATATACATATACACACACACACACA	WWOX	ENSG00000186153.19	transcript	ENST00000566780.6	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
WWOX_chr16_78094654_79217667	78422784	TACACACA others(69): Show TACACACACACATATATATACACACACATATATATACACACACATATATA TATATACATATACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0020 a0007c0008t0020	a0007c0008t0020g0058 a0007c0008t0020g0058	1	142	0.0070	-76	c.606 others(93): Show c.606-2074_606-1999delTATATATACACACACATATATATACACA CACATATATATATATACATATACACACACACACACACACACACACACA	WWOX	ENSG00000186153.19	transcript	ENST00000566780.6	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
XKR7_chr20_31963151_32008387	31987251	AACAGACC others(69): Show AACAGACCACCAAGCAGACCCAGCATCCAAGACACAGACAGACAGACCAC CAAACAGATCCAGTATCCAAGGCACAG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03540.hp1 NA21309.hp2 HG02559.hp1 HG03540.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0010 a0002c0002t0047 a0002c0002t0004 a0002c0002t0010 a0002c0002t0047	a0002c0002t0004g0174 a0002c0002t0010g0169 a0002c0002t0047g0170 a0002c0002t0004g0174 a0002c0002t0010g0169 a0002c0002t0047g0170	3	304	0.0099	-76	c.585 others(93): Show c.585-7764_585-7689delACAGATCCAGTATCCAAGGCACAGACAG ACCACCAAGCAGACCCAGCATCCAAGACACAGACAGACAGACCACCAA	XKR7	ENSG00000260903.3	transcript	ENST00000562532.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar

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