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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
AP5Z1_chr7_4770623_4799397	4789169	GTCCCCGT others(36): Show GTCCCCGTCCCATCCCCTTCATCCCGGCAGGCCACGTCCCCCAA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01081.hp2 HG01361.hp2 HG01074.hp2 HG01081.hp2 HG01361.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0012 a0004c0007t0012	a0004c0007t0012g0015 a0004c0007t0012g0015	3	340	0.0088	-43	c.170 others(60): Show c.1707+249_1707+291delCCACGTCCCCCAATCCCCGTCCCATCCC CTTCATCCCGGCAGG		AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding	13/16					INFO_REALIGN_3_PRIME	chr7	TogoVar
APAF1_chr12_98640290_98740433	98715226	CATGGTGT others(36): Show CATGGTGTGCATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03579.hp2 HG02258.hp2 HG03579.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0225 a0001c0004t0007g0226 a0001c0004t0007g0225 a0001c0004t0007g0226	2	366	0.0055	-43	c.295 others(60): Show c.2959-198_2959-156delGGTGTGCATATATATATATATATATATA TATATATATATATAT		APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	21/26					INFO_REALIGN_3_PRIME	chr12	TogoVar
APBB2_chr4_40805027_41219542	40982194	GGAAAGAA others(36): Show GGAAAGAAAGAAAAGAAAGAAAAGAAAGGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02451.hp2 HG02717.hp1 others(1): Show HG01071.hp2 HG02451.hp2 HG02717.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0001 a0002c0001t0023 a0002c0001t0054 others(1): Show a0001c0003t0001 a0002c0001t0023 a0002c0001t0054 a0002c0001t0060	a0001c0003t0001g0029 a0002c0001t0023g0184 a0002c0001t0054g0066 others(1): Show a0001c0003t0001g0029 a0002c0001t0023g0184 a0002c0001t0054g0066 a0002c0001t0060g0158	4	192	0.0208	-43	c.835 others(62): Show c.835+31346_835+31388delTTTCTTTCTTTCTTTCCTTTCTTTTC TTTCTTTTCTTTCTTTC		APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17						chr4	TogoVar
APBB2_chr4_40805027_41219542	41017595	GGAGTTTA others(36): Show GGAGTTTATAACAATAAATGTGAGCTCCACTCACCACTTTGTAC	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02647.hp2 HG02965.hp1 others(3): Show HG02109.hp1 HG02647.hp2 HG02965.hp1 HG03098.hp2 HG03130.hp2 NA18522.hp1	a0002 a0002	a0002c0001 a0002c0008 a0002c0001 a0002c0008	a0002c0001t0001 a0002c0001t0003 a0002c0001t0005 others(3): Show a0002c0001t0001 a0002c0001t0003 a0002c0001t0005 a0002c0001t0014 a0002c0001t0057 a0002c0008t0046	a0002c0001t0001g0075 a0002c0001t0003g0123 a0002c0001t0005g0152 others(3): Show a0002c0001t0001g0075 a0002c0001t0003g0123 a0002c0001t0005g0152 a0002c0001t0014g0063 a0002c0001t0057g0074 a0002c0008t0046g0090	6	192	0.0313	-43	c.20- others(58): Show c.20-3240_20-3198delGTACAAAGTGGTGAGTGGAGCTCACATTTA TTGTTATAAACTC		APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	5/17						chr4	TogoVar
ARHGAP24_chr4_85470150_86007666	85894960	CAAAAAAA others(36): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAACAAAAAGCAA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00639.hp1 HG01433.hp1 others(15): Show HG00423.hp2 HG00639.hp1 HG01433.hp1 HG02055.hp1 HG02155.hp1 HG02258.hp1 HG02258.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02897.hp2 HG03471.hp1 HG03492.hp2 HG04115.hp1 HG04199.hp1 HG06807.hp1 NA19240.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0013 a0002c0006	a0001c0001t0001 a0001c0001t0021 a0001c0002t0002 others(8): Show a0001c0001t0001 a0001c0001t0021 a0001c0002t0002 a0001c0002t0008 a0001c0002t0016 a0001c0003t0001 a0001c0003t0005 a0001c0003t0009 a0001c0003t0011 a0001c0013t0001 a0002c0006t0006	a0001c0001t0001g0032 a0001c0001t0021g0054 a0001c0002t0002g0005 others(15): Show a0001c0001t0001g0032 a0001c0001t0021g0054 a0001c0002t0002g0005 a0001c0002t0002g0041 a0001c0002t0002g0068 a0001c0002t0008g0052 a0001c0002t0008g0053 a0001c0002t0016g0055 a0001c0003t0001g0004 a0001c0003t0001g0007 a0001c0003t0001g0014 a0001c0003t0001g0020 a0001c0003t0001g0091 a0001c0003t0005g0059 a0001c0003t0009g0047 a0001c0003t0011g0087 a0001c0013t0001g0013 a0002c0006t0006g0095	18	108	0.1667	-43	c.269 others(62): Show c.269-28669_269-28627delAAAAAAAAAACAAAACAAAAAGCAAA AAAAAAAAAAAAAAAAA		ARHGAP24	ENSG00000138639.18	transcript	ENST00000395184.6	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGAP27_chr17_45388908_45437870	45433560	GAGGAACT others(36): Show GAGGAACTCCCTTACCTCTATATCTTTGTAAGATATAGTAAGTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG01074.hp2 HG01099.hp2 others(25): Show HG00140.hp2 HG01074.hp2 HG01099.hp2 HG01123.hp1 HG01167.hp2 HG01192.hp1 HG01255.hp2 HG01361.hp1 HG01433.hp1 HG01516.hp1 HG01517.hp1 HG01952.hp2 HG02074.hp2 HG02257.hp1 HG02602.hp1 HG02735.hp1 HG03017.hp1 HG03239.hp2 HG03490.hp2 HG03704.hp2 HG03710.hp2 HG04199.hp2 NA18948.hp1 NA18957.hp1 NA19030.hp2 NA19085.hp1 NA19090.hp1 NA20752.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0002 a0001c0001t0008 a0002c0002t0001 others(3): Show a0001c0001t0002 a0001c0001t0008 a0002c0002t0001 a0002c0002t0003 a0004c0004t0004 a0004c0004t0026	a0001c0001t0002g0002 a0001c0001t0002g0242 a0001c0001t0008g0166 others(17): Show a0001c0001t0002g0002 a0001c0001t0002g0242 a0001c0001t0008g0166 a0002c0002t0001g0065 a0002c0002t0001g0073 a0002c0002t0001g0076 a0002c0002t0001g0081 a0002c0002t0003g0074 a0004c0004t0004g0001 a0004c0004t0004g0017 a0004c0004t0004g0304 a0004c0004t0004g0305 a0004c0004t0004g0306 a0004c0004t0004g0307 a0004c0004t0004g0308 a0004c0004t0004g0309 a0004c0004t0004g0310 a0004c0004t0004g0311 a0004c0004t0004g0312 a0004c0004t0026g0313	28	347	0.0807	-43	c.-11 others(54): Show c.-1136_-1094delTACTTACTATATCTTACAAAGATATAGAGGTAAG GGAGTTCCT		ARHGAP27	ENSG00000159314.13	transcript	ENST00000685559.1	protein_coding					691		chr17	TogoVar
ARHGAP39_chr8_144524179_144690846	144676417	GGTGCTGC others(36): Show GGTGCTGCTGACTGGTGCGTTTACAAACCTTGAGCTAGACACAC	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG01891.hp1 others(66): Show HG00408.hp1 HG00438.hp1 HG01891.hp1 HG02004.hp1 HG02080.hp1 HG02109.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02148.hp2 HG02258.hp1 HG02280.hp1 HG02293.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03516.hp1 HG03579.hp2 NA18522.hp2 NA18906.hp2 NA18940.hp1 NA18944.hp1 NA18945.hp1 NA18947.hp2 NA18948.hp2 NA18963.hp2 NA18967.hp1 NA18969.hp1 NA18971.hp1 NA18979.hp2 NA18980.hp2 NA18990.hp2 NA18995.hp1 NA18999.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19074.hp1 NA19082.hp1 NA19087.hp2 NA19091.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0014 a0001c0018 a0003c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0018 a0001c0001t0021 a0001c0002t0001 a0001c0002t0009 a0001c0004t0006 a0001c0007t0001 a0001c0007t0017 a0001c0014t0007 a0001c0018t0001 a0003c0011t0001	a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0029 others(66): Show a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0238 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0241 a0001c0001t0003g0023 a0001c0001t0003g0063 a0001c0001t0003g0068 a0001c0001t0003g0071 a0001c0001t0003g0076 a0001c0001t0004g0237 a0001c0001t0007g0018 a0001c0001t0007g0239 a0001c0001t0011g0046 a0001c0001t0012g0040 a0001c0001t0014g0054 a0001c0001t0018g0022 a0001c0001t0021g0062 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0025 a0001c0002t0001g0035 a0001c0002t0001g0038 a0001c0002t0001g0041 a0001c0002t0001g0051 a0001c0002t0001g0222 a0001c0002t0009g0028 a0001c0004t0006g0069 a0001c0004t0006g0070 a0001c0004t0006g0073 a0001c0004t0006g0074 a0001c0004t0006g0075 a0001c0007t0001g0017 a0001c0007t0017g0019 a0001c0014t0007g0240 a0001c0018t0001g0230 a0003c0011t0001g0072	69	246	0.2805	-43	c.-82 others(60): Show c.-82+9226_-82+9268delGTGTGTCTAGCTCAAGGTTTGTAAACGC ACCAGTCAGCAGCAC		ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11						chr8	TogoVar
ARHGAP6_chrX_11132544_11670920	11590773	CTCGAAAA others(36): Show CTCGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03516.hp2 HG02451.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0116 a0001c0001t0001g0117	2	144	0.0139	-43	c.588 others(62): Show c.588+73425_588+73467delCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCGA		ARHGAP6	ENSG00000047648.23	transcript	ENST00000337414.9	protein_coding	1/12						chrX	TogoVar
ARHGEF28_chr5_73621196_73946990	73671712	ATATATAT others(36): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03139.hp2 HG02486.hp2 HG03139.hp2	a0002 a0010 a0002 a0010	a0002c0003 a0010c0014 a0002c0003 a0010c0014	a0002c0003t0001 a0010c0014t0001 a0002c0003t0001 a0010c0014t0001	a0002c0003t0001g0129 a0010c0014t0001g0161 a0002c0003t0001g0129 a0010c0014t0001g0161	2	188	0.0106	-43	c.-11 others(62): Show c.-11-13127_-11-13085delATATATATATATATATATATATATAT TTTTTTTTTTTTTTTTT		ARHGEF28	ENSG00000214944.10	transcript	ENST00000513042.7	protein_coding	1/35					INFO_REALIGN_3_PRIME	chr5	TogoVar
ARHGEF28_chr5_73621196_73946990	73671714	ATATATAT others(36): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00733.hp2 HG00741.hp1 others(8): Show HG00642.hp1 HG00733.hp2 HG00741.hp1 HG02486.hp1 HG02615.hp1 HG02723.hp2 HG02809.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG03453.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0006 a0008 a0011 a0035	a0001c0025 a0002c0002 a0003c0007 others(5): Show a0001c0025 a0002c0002 a0003c0007 a0004c0004 a0006c0010 a0008c0011 a0011c0016 a0035c0076	a0001c0025t0005 a0002c0002t0003 a0003c0007t0001 others(6): Show a0001c0025t0005 a0002c0002t0003 a0003c0007t0001 a0004c0004t0001 a0004c0004t0005 a0006c0010t0001 a0008c0011t0001 a0011c0016t0001 a0035c0076t0001	a0001c0025t0005g0131 a0002c0002t0003g0124 a0003c0007t0001g0184 others(8): Show a0001c0025t0005g0131 a0002c0002t0003g0124 a0003c0007t0001g0184 a0003c0007t0001g0186 a0004c0004t0001g0187 a0004c0004t0001g0188 a0004c0004t0005g0183 a0006c0010t0001g0185 a0008c0011t0001g0128 a0011c0016t0001g0126 a0035c0076t0001g0125	11	188	0.0585	-43	c.-11 others(62): Show c.-11-13125_-11-13083delATATATATATATATATATATATATTT TTTTTTTTTTTTTTTTT		ARHGEF28	ENSG00000214944.10	transcript	ENST00000513042.7	protein_coding	1/35					INFO_REALIGN_3_PRIME	chr5	TogoVar
ARHGEF28_chr5_73621196_73946990	73671716	ATATATAT others(36): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 NA21309.hp1 HG01167.hp2 NA21309.hp1	a0002 a0028 a0002 a0028	a0002c0002 a0028c0031 a0002c0002 a0028c0031	a0002c0002t0001 a0028c0031t0004 a0002c0002t0001 a0028c0031t0004	a0002c0002t0001g0132 a0028c0031t0004g0113 a0002c0002t0001g0132 a0028c0031t0004g0113	2	188	0.0106	-43	c.-11 others(62): Show c.-11-13123_-11-13081delATATATATATATATATATATATTTTT TTTTTTTTTTTTTTTTT		ARHGEF28	ENSG00000214944.10	transcript	ENST00000513042.7	protein_coding	1/35					INFO_REALIGN_3_PRIME	chr5	TogoVar
ARHGEF28_chr5_73621196_73946990	73737459	TTTCTTTT others(36): Show TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp2 NA21309.hp1 HG02486.hp1 HG02486.hp2 NA21309.hp1	a0004 a0010 a0028 a0004 a0010 a0028	a0004c0004 a0010c0014 a0028c0031 a0004c0004 a0010c0014 a0028c0031	a0004c0004t0005 a0010c0014t0001 a0028c0031t0004 a0004c0004t0005 a0010c0014t0001 a0028c0031t0004	a0004c0004t0005g0183 a0010c0014t0001g0161 a0028c0031t0004g0113 a0004c0004t0005g0183 a0010c0014t0001g0161 a0028c0031t0004g0113	3	188	0.0160	-43	c.34- others(60): Show c.34-12375_34-12333delCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTT		ARHGEF28	ENSG00000214944.10	transcript	ENST00000513042.7	protein_coding	2/35					INFO_REALIGN_3_PRIME	chr5	TogoVar
ARHGEF7_chr13_111110310_111310732	111310094	GAGGACTG others(36): Show GAGGACTGCATGGAAAGGCATTAGTTCTCTGTGTTGATGGTTAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00741.hp1 HG01081.hp2 others(30): Show HG00558.hp2 HG00741.hp1 HG01081.hp2 HG01346.hp2 HG01928.hp1 HG01943.hp2 HG02004.hp2 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02300.hp2 HG02451.hp1 HG02622.hp1 HG02717.hp2 HG03130.hp2 HG03209.hp1 HG03225.hp2 NA18906.hp1 NA18939.hp1 NA18950.hp2 NA18962.hp2 NA18966.hp2 NA18974.hp2 NA18982.hp1 NA18999.hp1 NA19000.hp1 NA19005.hp2 NA19011.hp2 NA19060.hp2 NA19076.hp1 NA19077.hp2 NA19079.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(9): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0001t0018 a0001c0002t0001 a0001c0002t0006 a0001c0003t0003 a0001c0006t0012	a0001c0001t0001g0084 a0001c0001t0005g0062 a0001c0001t0006g0032 others(30): Show a0001c0001t0001g0084 a0001c0001t0005g0062 a0001c0001t0006g0032 a0001c0001t0006g0041 a0001c0001t0006g0042 a0001c0001t0006g0083 a0001c0001t0006g0090 a0001c0001t0006g0185 a0001c0001t0006g0218 a0001c0001t0006g0234 a0001c0001t0006g0246 a0001c0001t0006g0263 a0001c0001t0006g0268 a0001c0001t0007g0008 a0001c0001t0009g0171 a0001c0001t0009g0202 a0001c0001t0009g0214 a0001c0001t0009g0250 a0001c0001t0009g0258 a0001c0001t0009g0259 a0001c0001t0009g0260 a0001c0001t0012g0013 a0001c0001t0014g0153 a0001c0001t0014g0161 a0001c0001t0014g0186 a0001c0001t0018g0020 a0001c0001t0018g0038 a0001c0002t0001g0182 a0001c0002t0006g0236 a0001c0003t0003g0021 a0001c0003t0003g0146 a0001c0006t0012g0121 a0001c0006t0012g0124	33	274	0.1204	-43	c.69 others(54): Show c.6982_*7024delAGGACTGCATGGAAAGGCATTAGTTCTCTGTGTT GATGGTTAA		ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding					4363		chr13	TogoVar
ARID1A_chr1_26691015_26787104	26737764	CTGAGGCA others(36): Show CTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCGG	C C	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	146	0.0069	-43	c.192 others(62): Show c.1920+4977_1920+5019delGCAGGAGAATCGCTTGAACCTGGGAG GCAGAGGTTGCGGTGAG		ARID1A	ENSG00000117713.21	transcript	ENST00000324856.13	protein_coding	4/19					INFO_REALIGN_3_PRIME	chr1	TogoVar
ARID4B_chr1_235161902_235333179	235298891	AGGCATTT others(36): Show AGGCATTTCATTCATTAAAAACTGCAGTCTCAGCCCAGCACAGT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00733.hp2 HG01070.hp1 others(37): Show HG00642.hp1 HG00733.hp2 HG01070.hp1 HG01109.hp1 HG01255.hp1 HG01261.hp2 HG01361.hp1 HG01891.hp2 HG02027.hp2 HG02109.hp2 HG02257.hp1 HG02258.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03225.hp1 HG03453.hp1 HG03540.hp2 NA18943.hp1 NA18954.hp1 NA18978.hp2 NA18995.hp2 NA19043.hp1 NA19043.hp2 NA20300.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0007 a0009	a0001c0001 a0001c0002 a0001c0010 others(6): Show a0001c0001 a0001c0002 a0001c0010 a0001c0011 a0002c0003 a0003c0005 a0006c0015 a0007c0016 a0009c0018	a0001c0001t0001 a0001c0002t0001 a0001c0010t0001 others(6): Show a0001c0001t0001 a0001c0002t0001 a0001c0010t0001 a0001c0011t0001 a0002c0003t0001 a0003c0005t0002 a0006c0015t0001 a0007c0016t0001 a0009c0018t0001	a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 others(37): Show a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0101 a0001c0002t0001g0104 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0113 a0001c0010t0001g0125 a0001c0011t0001g0138 a0002c0003t0001g0097 a0002c0003t0001g0100 a0002c0003t0001g0102 a0002c0003t0001g0109 a0002c0003t0001g0110 a0002c0003t0001g0111 a0002c0003t0001g0115 a0002c0003t0001g0116 a0002c0003t0001g0117 a0002c0003t0001g0118 a0002c0003t0001g0119 a0002c0003t0001g0120 a0002c0003t0001g0121 a0002c0003t0001g0122 a0002c0003t0001g0123 a0002c0003t0001g0124 a0002c0003t0001g0126 a0002c0003t0001g0127 a0002c0003t0001g0128 a0002c0003t0001g0129 a0003c0005t0002g0105 a0006c0015t0001g0114 a0007c0016t0001g0103 a0009c0018t0001g0112	40	272	0.1471	-43	c.6+2 others(58): Show c.6+27980_6+28022delACTGTGCTGGGCTGAGACTGCAGTTTTTAA TGAATGAAATGCC		ARID4B	ENSG00000054267.22	transcript	ENST00000264183.9	protein_coding	2/23						chr1	TogoVar
ARL4C_chr2_234488041_234502081	234491051	ACAAACGA others(36): Show ACAAACGAAGAATCGAAACCTTGAAGGAAAAGTTCAGATTGTGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00733.hp2 HG01070.hp1 others(7): Show HG00280.hp2 HG00733.hp2 HG01070.hp1 HG01071.hp1 HG01106.hp2 HG01243.hp1 HG01891.hp2 HG02055.hp2 HG02698.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0001 a0001c0001t0006g0006 a0001c0001t0001g0001 a0001c0001t0006g0006	10	468	0.0214	-43	c.47 others(54): Show c.4712_*4754delCCACAATCTGAACTTTTCCTTCAAGGTTTCGATT CTTCGTTTG		ARL4C	ENSG00000188042.8	transcript	ENST00000339728.6	protein_coding					1989		chr2	TogoVar
ARSK_chr5_95550101_95610102	95560069	AGTTCCAT others(36): Show AGTTCCATTTAAAGTAACATCAGAATGGATGAAATACTTAAAAT	A A	intron_variant intron_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0190 a0002c0002t0002g0190	1	336	0.0030	-43	c.126 others(60): Show c.126+4666_126+4708delGTTCCATTTAAAGTAACATCAGAATGGA TGAAATACTTAAAAT		ARSK	ENSG00000164291.17	transcript	ENST00000380009.9	protein_coding	1/7						chr5	TogoVar
ART1_chr11_3640128_3669416	3663056	ATCTCATC others(36): Show ATCTCATCTCATCTCATCTCATCATCTCATCTCATCATCTCATC	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01109.hp2 HG01943.hp2 others(8): Show HG00639.hp2 HG01109.hp2 HG01943.hp2 HG02055.hp2 HG02486.hp2 HG02818.hp1 HG02895.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03471.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0002 a0002c0002t0002 a0003c0003t0002 a0001c0001t0002 a0002c0002t0002 a0003c0003t0002	a0001c0001t0002g0016 a0001c0001t0002g0041 a0001c0001t0002g0042 others(7): Show a0001c0001t0002g0016 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0155 a0002c0002t0002g0311 a0003c0003t0002g0263 a0003c0003t0002g0264	11	394	0.0279	-43	c.887 others(59): Show c.887-1033_887-991delTCATCTCATCTCATCTCATCATCTCATCT CATCATCTCATCTC		ART1	ENSG00000129744.3	transcript	ENST00000250693.2	protein_coding	4/4					INFO_REALIGN_3_PRIME	chr11	TogoVar
ART1_chr11_3640128_3669416	3663066	ATCTCATC others(36): Show ATCTCATCTCATCATCTCATCTCATCATCTCATCTCATCTCATC	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01993.hp1 HG03927.hp2 others(16): Show HG00597.hp2 HG01993.hp1 HG03927.hp2 NA18942.hp2 NA18950.hp1 NA18954.hp1 NA18964.hp2 NA18970.hp2 NA18974.hp1 NA18984.hp1 NA18997.hp2 NA19003.hp1 NA19057.hp2 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19081.hp1 NA19087.hp2 NA20905.hp2	a0002 a0003 a0002 a0003	a0002c0004 a0003c0003 a0002c0004 a0003c0003	a0002c0004t0002 a0003c0003t0002 a0002c0004t0002 a0003c0003t0002	a0002c0004t0002g0007 a0003c0003t0002g0003 a0003c0003t0002g0007 others(8): Show a0002c0004t0002g0007 a0003c0003t0002g0003 a0003c0003t0002g0007 a0003c0003t0002g0017 a0003c0003t0002g0049 a0003c0003t0002g0050 a0003c0003t0002g0052 a0003c0003t0002g0053 a0003c0003t0002g0054 a0003c0003t0002g0065 a0003c0003t0002g0302	19	394	0.0482	-43	c.887 others(59): Show c.887-1023_887-981delTCATCTCATCATCTCATCTCATCATCTCA TCTCATCTCATCTC		ART1	ENSG00000129744.3	transcript	ENST00000250693.2	protein_coding	4/4					INFO_REALIGN_3_PRIME	chr11	TogoVar
ASAP1_chr8_130047104_130448674	130050074	TGGAGGGC others(36): Show TGGAGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0069 a0002c0002t0001g0069	1	308	0.0033	-43	c.46 others(54): Show c.4614_*4656delCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCT CTGCCCTCC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2029		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050114	CATGGGGG others(36): Show CATGGGGGGCAGAGGGGAACACATGGGGGCAGAGGGGAATACAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG02723.hp1 HG03195.hp2 HG01496.hp2 HG02723.hp1 HG03195.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0012 a0001c0001 a0004c0012	a0001c0001t0012 a0004c0012t0027 a0001c0001t0012 a0004c0012t0027	a0001c0001t0012g0296 a0001c0001t0012g0298 a0004c0012t0027g0233 a0001c0001t0012g0296 a0001c0001t0012g0298 a0004c0012t0027g0233	3	308	0.0097	-43	c.45 others(54): Show c.4574_*4616delATGTATTCCCCTCTGCCCCCATGTGTTCCCCTCT GCCCCCCAT		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					1989		chr8	TogoVar
ASAP2_chr2_9201812_9410678	9279170	GAGGGACC others(36): Show GAGGGACCTGGCAGAGGAGGCTTGTCTCCCAGAAACAGGTGCCT	G G	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0081 a0002c0001t0001g0081	1	210	0.0048	-43	c.127 others(57): Show c.127-130_127-88delAGGCTTGTCTCCCAGAAACAGGTGCCTAGGG ACCTGGCAGAGG		ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27					INFO_REALIGN_3_PRIME	chr2	TogoVar
ASCC3_chr6_100503194_100886329	100853435	TTTTTGAG others(36): Show TTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGTTGGAGTGCAG	T T	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01123.hp1 HG01168.hp1 others(3): Show HG01071.hp1 HG01123.hp1 HG01168.hp1 HG01192.hp2 HG03490.hp1 HG03492.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0005 a0001c0002 a0003c0005	a0001c0002t0003 a0003c0005t0002 a0001c0002t0003 a0003c0005t0002	a0001c0002t0003g0153 a0003c0005t0002g0148 a0003c0005t0002g0149 others(3): Show a0001c0002t0003g0153 a0003c0005t0002g0148 a0003c0005t0002g0149 a0003c0005t0002g0150 a0003c0005t0002g0151 a0003c0005t0002g0152	6	314	0.0191	-43	c.242 others(60): Show c.242-4771_242-4729delCTGCACTCCAACCTGGGTGACAGAGCAA GACTCCGTCTCAAAA		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	3/41						chr6	TogoVar
ASIC2_chr17_33008087_33298295	33263630	CTCTGGCC others(36): Show CTCTGGCCTTCAGTGAAGGCCATTTCAGAATGAAGAGTTGGTGT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG01175.hp1 others(31): Show HG00438.hp1 HG00544.hp1 HG01175.hp1 HG01358.hp2 HG01515.hp1 HG01517.hp2 HG01943.hp2 HG02015.hp2 HG02056.hp1 HG02080.hp1 HG02109.hp2 HG02257.hp2 HG02572.hp2 HG02717.hp1 HG03098.hp2 HG03130.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp2 NA18747.hp1 NA18944.hp2 NA18947.hp2 NA18966.hp1 NA18968.hp2 NA18980.hp1 NA18985.hp2 NA18993.hp2 NA18999.hp1 NA19000.hp1 NA19057.hp1 NA19068.hp2 NA19081.hp2 NA20300.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 others(10): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0001c0001t0023 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0004t0001 a0001c0004t0002 a0002c0003t0001 a0002c0003t0002 a0002c0003t0005	a0001c0001t0003g0035 a0001c0001t0003g0044 a0001c0001t0003g0052 others(31): Show a0001c0001t0003g0035 a0001c0001t0003g0044 a0001c0001t0003g0052 a0001c0001t0004g0009 a0001c0001t0004g0010 a0001c0001t0004g0059 a0001c0001t0007g0228 a0001c0001t0011g0003 a0001c0001t0011g0004 a0001c0001t0023g0084 a0001c0002t0001g0112 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0005g0101 a0001c0004t0001g0162 a0001c0004t0002g0161 a0001c0004t0002g0163 a0002c0003t0001g0181 a0002c0003t0001g0187 a0002c0003t0001g0188 a0002c0003t0001g0190 a0002c0003t0001g0192 a0002c0003t0001g0195 a0002c0003t0001g0200 a0002c0003t0001g0212 a0002c0003t0001g0218 a0002c0003t0002g0178 a0002c0003t0002g0180 a0002c0003t0002g0189 a0002c0003t0002g0191 a0002c0003t0002g0213 a0002c0003t0002g0214 a0002c0003t0005g0221	34	240	0.1417	-43	c.708 others(62): Show c.708+27735_708+27777delACACCAACTCTTCATTCTGAAATGGC CTTCACTGAAGGCCAGA		ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9						chr17	TogoVar
ATAD3B_chr1_1466765_1502848	1472036	ACCCCACC others(36): Show ACCCCACCGGCCTGGAGCGCGCCGCCAAGGCGGCGCGCGAGCTG	A A	frameshift_variant frameshift_variant	HIGH	NA18959.hp2 NA18959.hp2	a0027 a0027	a0027c0037 a0027c0037	a0027c0037t0001 a0027c0037t0001	a0027c0037t0001g0003 a0027c0037t0001g0003	1	276	0.0036	-43	c.153 others(50): Show c.153_195delCCCCACCGGCCTGGAGCGCGCCGCCAAGGCGGCGCGCG AGCTG	p.Asp others(4): Show p.Asp51fs	ATAD3B	ENSG00000160072.20	transcript	ENST00000673477.1	protein_coding	1/16	273/4098	153/1947	51/648			chr1	TogoVar
ATAD3B_chr1_1466765_1502848	1480176	AGGGCACA others(36): Show AGGGCACACCCCCACCCCCCACCCCCACACACCCCCGCACCCAT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02602.hp2 HG02717.hp1 others(3): Show HG02109.hp1 HG02602.hp2 HG02717.hp1 HG03490.hp1 HG03492.hp2 HG04115.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0006c0009 a0002c0002 a0006c0009	a0002c0002t0018 a0006c0009t0003 a0002c0002t0018 a0006c0009t0003	a0002c0002t0018g0023 a0006c0009t0003g0012 a0006c0009t0003g0113 a0002c0002t0018g0023 a0006c0009t0003g0012 a0006c0009t0003g0113	6	276	0.0217	-43	c.445 others(58): Show c.445-682_445-640delCCCCACCCCCCACCCCCACACACCCCCGCA CCCATGGGCACAC		ATAD3B	ENSG00000160072.20	transcript	ENST00000673477.1	protein_coding	4/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
ATCAY_chr19_3875685_3933082	3908624	GTCCTCCT others(36): Show GTCCTCCTCCTCCTCCCCTTCTTCCTCCCCCTTCCCCTTTCTTC	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02280.hp2 HG02451.hp1 others(8): Show HG01884.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp1 HG02717.hp2 HG02818.hp2 HG02965.hp1 NA18522.hp1 NA19030.hp1 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0044 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0044 a0001c0001t0047	a0001c0001t0001g0026 a0001c0001t0001g0159 a0001c0001t0001g0193 others(8): Show a0001c0001t0001g0026 a0001c0001t0001g0159 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0247 a0001c0001t0001g0332 a0001c0001t0001g0340 a0001c0001t0001g0345 a0001c0001t0002g0258 a0001c0001t0044g0207 a0001c0001t0047g0358	11	384	0.0287	-43	c.647 others(58): Show c.647+262_647+304delCCTCCTCCCCTTCTTCCTCCCCCTTCCCCT TTCTTCTCCTCCT		ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding	6/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
ATCAY_chr19_3875685_3933082	3908632	CCTCCTCC others(36): Show CCTCCTCCCCTTCTTCCTCCCCCTTCCCCTTTCTTCTCCTCCTT	C C	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	384	0.0026	-43	c.647 others(58): Show c.647+285_647+327delTTCCCCTTTCTTCTCCTCCTTCTCCTCCCC TTCTTCCTCCCCC		ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding	6/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
ATP11A_chr13_112685038_112892168	112767148	TGTAGGGG others(36): Show TGTAGGGGTATCGGGGGCCCCTGTAGGAAGGTAGGGAGGATGTG	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0138 a0001c0001t0060g0138	1	254	0.0039	-43	c.40- others(60): Show c.40-17985_40-17943delTAGGGGTATCGGGGGCCCCTGTAGGAAG GTAGGGAGGATGTGG		ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112803694	CTCCCCTC others(36): Show CTCCCCTCCTTCTCTCATTCCCCTCCTTCCCTCCCTGACCTCCT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01261.hp1 HG02280.hp2 others(5): Show HG01243.hp2 HG01261.hp1 HG02280.hp2 HG02451.hp1 HG02809.hp2 HG02970.hp2 NA18906.hp1 NA19011.hp2	a0001 a0014 a0001 a0014	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0022 a0001c0045 a0014c0023	a0001c0001t0001 a0001c0002t0004 a0001c0002t0014 others(4): Show a0001c0001t0001 a0001c0002t0004 a0001c0002t0014 a0001c0004t0002 a0001c0022t0001 a0001c0045t0014 a0014c0023t0002	a0001c0001t0001g0068 a0001c0001t0001g0210 a0001c0002t0004g0041 others(5): Show a0001c0001t0001g0068 a0001c0001t0001g0210 a0001c0002t0004g0041 a0001c0002t0014g0197 a0001c0004t0002g0208 a0001c0022t0001g0217 a0001c0045t0014g0254 a0014c0023t0002g0064	8	254	0.0315	-43	c.163 others(60): Show c.163-1229_163-1187delCTGACCTCCTTCCCCTCCTTCTCTCATT CCCCTCCTTCCCTCC		ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112804200	CCCCTCCT others(36): Show CCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTG	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01169.hp1 HG01255.hp2 others(4): Show HG00438.hp1 HG01169.hp1 HG01255.hp2 HG02970.hp2 HG03831.hp1 NA18612.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0045	a0001c0001t0010 a0001c0001t0019 a0001c0002t0007 others(3): Show a0001c0001t0010 a0001c0001t0019 a0001c0002t0007 a0001c0004t0006 a0001c0006t0001 a0001c0045t0014	a0001c0001t0010g0004 a0001c0001t0019g0142 a0001c0002t0007g0237 others(4): Show a0001c0001t0010g0004 a0001c0001t0019g0142 a0001c0002t0007g0237 a0001c0004t0006g0203 a0001c0006t0001g0077 a0001c0006t0001g0134 a0001c0045t0014g0254	7	254	0.0276	-43	c.163 others(58): Show c.163-702_163-660delTCCTTCACCTCCCTCCCCCCATCCCCTCTC TGCCCTCCTTCCC		ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP12A_chr13_24675408_24717472	24682155	GTGTGGTG others(36): Show GTGTGGTGTGTGTATGTGTGTGGTGTGTGTATGTGTGTGGTATA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0010 a0010	a0010c0030 a0010c0030	a0010c0030t0001 a0010c0030t0001	a0010c0030t0001g0286 a0010c0030t0001g0286	1	382	0.0026	-43	c.168 others(58): Show c.168+437_168+479delGTGGTGTGTGTATGTGTGTGGTGTGTGTAT GTGTGTGGTATAT		ATP12A	ENSG00000075673.12	transcript	ENST00000381946.5	protein_coding	2/22					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP6V1H_chr8_53710543_53848245	53755702	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	286	0.0035	-43	c.127 others(60): Show c.1277+810_1277+852delATATATATATATATATATATATATATAT ATATATATATATATA		ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	12/13						chr8	TogoVar
ATP8A2_chr13_25366974_26030851	25531398	TTATATAT others(36): Show TTATATATATGATTATATATATGATATATATATGATTATATATA	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02257.hp2 HG02896.hp2 others(5): Show HG01261.hp2 HG02257.hp2 HG02896.hp2 HG03098.hp1 HG03579.hp2 NA18906.hp1 NA19030.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0009 a0001c0001t0017 a0001c0001t0026 others(5): Show a0001c0001t0009 a0001c0001t0017 a0001c0001t0026 a0001c0001t0035 a0001c0002t0005 a0001c0008t0013 a0001c0008t0033 a0001c0008t0057	a0001c0001t0009g0065 a0001c0001t0017g0051 a0001c0001t0026g0090 others(5): Show a0001c0001t0009g0065 a0001c0001t0017g0051 a0001c0001t0026g0090 a0001c0001t0035g0043 a0001c0002t0005g0034 a0001c0008t0013g0074 a0001c0008t0033g0075 a0001c0008t0057g0070	8	122	0.0656	-43	c.420 others(58): Show c.420+740_420+782delATATATATGATTATATATATGATATATATA TGATTATATATAT		ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	4/36					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATR_chr3_142444235_142583733	142496278	CTATATAT others(36): Show CTATATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0012 a0012	a0012c0021 a0012c0021	a0012c0021t0001 a0012c0021t0001	a0012c0021t0001g0320 a0012c0021t0001g0320	1	322	0.0031	-43	c.589 others(58): Show c.5898+40_5898+82delATATATATATATATATATATATATATATAT ATATATATATATA		ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	34/46						chr3	TogoVar
AUTS2_chr7_69593475_70798506	70043562	TTCCTTCC others(36): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0027 a0001c0007t0006g0027	1	76	0.0132	-43	c.523 others(62): Show c.523-74568_523-74526delCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AVPI1_chr10_97672424_97692241	97678957	GTGTGTGT others(36): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0076 a0002c0002t0002g0076	1	446	0.0022	-43	c.287 others(58): Show c.287+619_287+661delACACACACACACACACACACACACACACAC ACACACACACACA		AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2						chr10	TogoVar
B3GNTL1_chr17_82937149_83056770	83003037	CTCCGCGT others(36): Show CTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCACTCTCCGCAG	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG04199.hp2 HG02572.hp2 HG04199.hp2	a0001 a0001	a0001c0003 a0001c0014 a0001c0003 a0001c0014	a0001c0003t0009 a0001c0014t0002 a0001c0003t0009 a0001c0014t0002	a0001c0003t0009g0209 a0001c0014t0002g0011 a0001c0003t0009g0209 a0001c0014t0002g0011	2	266	0.0075	-43	c.459 others(60): Show c.459+2035_459+2077delCTGCGGAGAGTGGGAGGGCGGGCTCAGG AATCCCACACGCGGA		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83003266	CTCCGCGT others(36): Show CTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCGCCCTCCGCAG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00735.hp2 HG01081.hp1 others(26): Show HG00280.hp2 HG00735.hp2 HG01081.hp1 HG01168.hp1 HG01169.hp2 HG01261.hp2 HG02135.hp2 HG02155.hp2 HG02280.hp2 HG02922.hp1 HG02976.hp1 HG03453.hp2 HG03492.hp2 HG03942.hp2 HG04199.hp1 HG04199.hp2 NA18943.hp2 NA18944.hp1 NA18951.hp2 NA18960.hp2 NA18966.hp1 NA18971.hp2 NA18980.hp1 NA18983.hp2 NA18999.hp1 NA19000.hp1 NA19064.hp1 NA19240.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0008 a0002c0009	a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 others(13): Show a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0016 a0001c0002t0025 a0001c0003t0005 a0001c0003t0009 a0001c0006t0010 a0001c0007t0001 a0001c0007t0005 a0001c0008t0004 a0001c0008t0005 a0001c0008t0038 a0002c0009t0013 a0002c0009t0024	a0001c0001t0004g0227 a0001c0002t0001g0116 a0001c0002t0001g0129 others(25): Show a0001c0001t0004g0227 a0001c0002t0001g0116 a0001c0002t0001g0129 a0001c0002t0002g0076 a0001c0002t0006g0070 a0001c0002t0006g0071 a0001c0002t0006g0107 a0001c0002t0006g0127 a0001c0002t0016g0134 a0001c0002t0016g0135 a0001c0002t0025g0098 a0001c0003t0005g0225 a0001c0003t0009g0202 a0001c0003t0009g0204 a0001c0003t0009g0209 a0001c0003t0009g0211 a0001c0006t0010g0010 a0001c0007t0001g0003 a0001c0007t0001g0149 a0001c0007t0001g0150 a0001c0007t0005g0250 a0001c0007t0005g0251 a0001c0008t0004g0214 a0001c0008t0005g0208 a0001c0008t0038g0215 a0002c0009t0013g0117 a0002c0009t0013g0119 a0002c0009t0024g0118	29	266	0.1090	-43	c.459 others(60): Show c.459+1806_459+1848delCTGCGGAGGGCGGGAGGGCGGGCTCAGG AATCCCACACGCGGA		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83003345	CTCCGCGT others(36): Show CTCCGCGTGTGGGATTCCTGAGCTCGCCCTCCCACTCTCTGCAG	C C	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0092 a0001c0002t0008g0092	1	266	0.0038	-43	c.459 others(60): Show c.459+1727_459+1769delCTGCAGAGAGTGGGAGGGCGAGCTCAGG AATCCCACACGCGGA		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83003384	TGCAGTCC others(36): Show TGCAGTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCACTCTCC	T T	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA18953.hp1 NA18959.hp2 others(2): Show HG02080.hp2 NA18953.hp1 NA18959.hp2 NA18964.hp2 NA19010.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0002 a0001c0001t0019 a0001c0001t0027 others(2): Show a0001c0001t0002 a0001c0001t0019 a0001c0001t0027 a0001c0002t0019 a0002c0005t0003	a0001c0001t0002g0183 a0001c0001t0019g0181 a0001c0001t0027g0184 others(2): Show a0001c0001t0002g0183 a0001c0001t0019g0181 a0001c0001t0027g0184 a0001c0002t0019g0115 a0002c0005t0003g0180	5	266	0.0188	-43	c.459 others(60): Show c.459+1688_459+1730delGGAGAGTGGGAGGGCGGGCTCAGGAATC CCACACGCGGACTGC		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83003467	CTCCGCGT others(36): Show CTCCGCGTGTGGGATTCCTGAGCTCGCCCTCCCACTCTCTGCAG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0040 a0001c0006t0002g0040	1	266	0.0038	-43	c.459 others(60): Show c.459+1605_459+1647delCTGCAGAGAGTGGGAGGGCGAGCTCAGG AATCCCACACGCGGA		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83003578	GCCCTCCC others(36): Show GCCCTCCCACTCTCTGCAGTCCGCGTGTGGGATTCCTGAGCCCA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00735.hp2 HG01069.hp1 others(29): Show HG00280.hp2 HG00735.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01168.hp1 HG01169.hp2 HG01261.hp2 HG02056.hp1 HG02155.hp2 HG02280.hp2 HG02922.hp1 HG02976.hp1 HG03130.hp2 HG03453.hp2 HG03492.hp2 HG03942.hp2 HG04199.hp1 HG04199.hp2 NA18943.hp2 NA18944.hp1 NA18951.hp2 NA18960.hp2 NA18966.hp1 NA18971.hp2 NA18980.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp2 NA19064.hp1 NA19240.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0008 a0002c0009	a0001c0001t0004 a0001c0001t0011 a0001c0002t0001 others(15): Show a0001c0001t0004 a0001c0001t0011 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0008 a0001c0002t0016 a0001c0002t0025 a0001c0003t0005 a0001c0003t0009 a0001c0004t0001 a0001c0007t0001 a0001c0007t0005 a0001c0008t0004 a0001c0008t0005 a0001c0008t0038 a0002c0009t0013 a0002c0009t0024	a0001c0001t0004g0227 a0001c0001t0004g0253 a0001c0001t0011g0067 others(27): Show a0001c0001t0004g0227 a0001c0001t0004g0253 a0001c0001t0011g0067 a0001c0002t0001g0116 a0001c0002t0001g0129 a0001c0002t0002g0076 a0001c0002t0006g0070 a0001c0002t0006g0107 a0001c0002t0006g0127 a0001c0002t0008g0123 a0001c0002t0016g0134 a0001c0002t0016g0135 a0001c0002t0025g0098 a0001c0003t0005g0225 a0001c0003t0009g0202 a0001c0003t0009g0204 a0001c0003t0009g0209 a0001c0003t0009g0211 a0001c0004t0001g0002 a0001c0007t0001g0003 a0001c0007t0001g0149 a0001c0007t0001g0150 a0001c0007t0005g0250 a0001c0007t0005g0251 a0001c0008t0004g0214 a0001c0008t0005g0208 a0001c0008t0038g0215 a0002c0009t0013g0117 a0002c0009t0013g0119 a0002c0009t0024g0118	32	266	0.1203	-43	c.459 others(60): Show c.459+1494_459+1536delTGGGCTCAGGAATCCCACACGCGGACTG CAGAGAGTGGGAGGG		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83003822	ACCCTCCC others(36): Show ACCCTCCCACTCTCTGCAGTCCGCGTGTGGGATTCCTGAGCTCG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0157 a0001c0001t0006g0157	1	266	0.0038	-43	c.459 others(60): Show c.459+1250_459+1292delCGAGCTCAGGAATCCCACACGCGGACTG CAGAGAGTGGGAGGG		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83003919	CTCCGCGT others(36): Show CTCCGCGTGTGGGATTCCTGAGCTCGCCCTCCCACTCTCCGCAG	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0033 a0001c0006t0033	a0001c0006t0033g0044 a0001c0006t0033g0044	1	266	0.0038	-43	c.459 others(60): Show c.459+1153_459+1195delCTGCGGAGAGTGGGAGGGCGAGCTCAGG AATCCCACACGCGGA		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83004192	CTCCGCGT others(36): Show CTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCACTCTCCGCAG	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0018 a0001c0006t0018	a0001c0006t0018g0015 a0001c0006t0018g0015	1	266	0.0038	-43	c.459 others(58): Show c.459+880_459+922delCTGCGGAGAGTGGGAGGGCGGGCTCAGGAA TCCCACACGCGGA		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83004508	CTCCGCGT others(36): Show CTCCGCGTGTGGGATTCCTGAGCTCGCCCTCCCACTCTCTGCAG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00597.hp1 others(106): Show HG00280.hp2 HG00408.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01891.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG02015.hp1 HG02027.hp1 HG02055.hp2 HG02056.hp1 HG02080.hp2 HG02132.hp1 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02559.hp2 HG02683.hp1 HG02698.hp1 HG02818.hp1 HG02922.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03195.hp1 HG03209.hp2 HG03453.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18951.hp2 NA18953.hp1 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18980.hp1 NA18983.hp2 NA18986.hp2 NA18995.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19004.hp1 NA19007.hp1 NA19010.hp1 NA19012.hp2 NA19064.hp1 NA19064.hp2 NA19070.hp1 NA19074.hp1 NA19081.hp2 NA19084.hp2 NA19088.hp1 NA19090.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA21309.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0003 others(15): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0011 a0001c0013 a0001c0014 a0001c0016 a0001c0029 a0002c0005 a0002c0009 a0002c0010 a0002c0015 a0002c0022 a0005c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(45): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0019 a0001c0001t0027 a0001c0001t0037 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0016 a0001c0002t0019 a0001c0002t0025 a0001c0003t0005 a0001c0003t0009 a0001c0003t0014 a0001c0003t0015 a0001c0003t0021 a0001c0004t0001 a0001c0004t0002 a0001c0004t0010 a0001c0004t0026 a0001c0006t0001 a0001c0006t0002 a0001c0006t0006 a0001c0006t0010 a0001c0006t0023 a0001c0007t0001 a0001c0007t0005 a0001c0008t0004 a0001c0008t0005 a0001c0008t0014 a0001c0008t0021 a0001c0008t0038 a0001c0011t0030 a0001c0013t0012 a0001c0014t0018 a0001c0016t0001 a0001c0029t0001 a0002c0005t0003 a0002c0005t0007 a0002c0009t0013 a0002c0009t0024 a0002c0010t0007 a0002c0015t0003 a0002c0022t0003 a0005c0026t0006	a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 others(102): Show a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0002g0156 a0001c0001t0002g0174 a0001c0001t0002g0183 a0001c0001t0004g0227 a0001c0001t0004g0253 a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0006g0182 a0001c0001t0009g0231 a0001c0001t0009g0232 a0001c0001t0009g0246 a0001c0001t0019g0181 a0001c0001t0027g0184 a0001c0001t0037g0259 a0001c0002t0001g0116 a0001c0002t0001g0129 a0001c0002t0002g0076 a0001c0002t0002g0085 a0001c0002t0006g0071 a0001c0002t0006g0107 a0001c0002t0006g0127 a0001c0002t0006g0128 a0001c0002t0016g0134 a0001c0002t0016g0135 a0001c0002t0019g0115 a0001c0002t0025g0098 a0001c0003t0005g0225 a0001c0003t0009g0204 a0001c0003t0009g0209 a0001c0003t0009g0210 a0001c0003t0009g0211 a0001c0003t0009g0220 a0001c0003t0014g0194 a0001c0003t0015g0221 a0001c0003t0021g0219 a0001c0004t0001g0002 a0001c0004t0001g0021 a0001c0004t0001g0025 a0001c0004t0001g0026 a0001c0004t0001g0028 a0001c0004t0001g0032 a0001c0004t0001g0033 a0001c0004t0001g0036 a0001c0004t0001g0037 a0001c0004t0001g0039 a0001c0004t0001g0041 a0001c0004t0001g0042 a0001c0004t0001g0045 a0001c0004t0001g0048 a0001c0004t0002g0050 a0001c0004t0010g0034 a0001c0004t0026g0046 a0001c0006t0001g0022 a0001c0006t0002g0040 a0001c0006t0006g0038 a0001c0006t0006g0047 a0001c0006t0010g0010 a0001c0006t0023g0030 a0001c0007t0001g0003 a0001c0007t0001g0149 a0001c0007t0001g0150 a0001c0007t0005g0229 a0001c0007t0005g0234 a0001c0007t0005g0250 a0001c0007t0005g0251 a0001c0008t0004g0214 a0001c0008t0005g0191 a0001c0008t0005g0203 a0001c0008t0005g0208 a0001c0008t0005g0226 a0001c0008t0014g0195 a0001c0008t0014g0212 a0001c0008t0021g0213 a0001c0008t0038g0215 a0001c0011t0030g0143 a0001c0013t0012g0001 a0001c0013t0012g0014 a0001c0014t0018g0049 a0001c0016t0001g0008 a0001c0016t0001g0009 a0001c0029t0001g0141 a0002c0005t0003g0055 a0002c0005t0003g0161 a0002c0005t0003g0175 a0002c0005t0003g0180 a0002c0005t0007g0261 a0002c0009t0013g0117 a0002c0009t0013g0119 a0002c0009t0024g0118 a0002c0010t0007g0004 a0002c0010t0007g0206 a0002c0010t0007g0207 a0002c0010t0007g0216 a0002c0010t0007g0224 a0002c0015t0003g0043 a0002c0022t0003g0029 a0005c0026t0006g0176	109	266	0.4098	-43	c.459 others(58): Show c.459+564_459+606delCTGCAGAGAGTGGGAGGGCGAGCTCAGGAA TCCCACACGCGGA		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83004719	TGCAGTCC others(36): Show TGCAGTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCACCCTCC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02486.hp1 HG02572.hp2 others(4): Show HG00408.hp2 HG02486.hp1 HG02572.hp2 HG02630.hp1 HG03130.hp2 HG03516.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0007 others(1): Show a0001c0001 a0001c0006 a0001c0007 a0001c0014	a0001c0001t0002 a0001c0001t0011 a0001c0001t0039 others(4): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0039 a0001c0006t0002 a0001c0006t0018 a0001c0007t0005 a0001c0014t0002	a0001c0001t0002g0133 a0001c0001t0011g0067 a0001c0001t0039g0260 others(4): Show a0001c0001t0002g0133 a0001c0001t0011g0067 a0001c0001t0039g0260 a0001c0006t0002g0040 a0001c0006t0018g0015 a0001c0007t0005g0229 a0001c0014t0002g0011	7	266	0.0263	-43	c.459 others(58): Show c.459+353_459+395delGGAGGGTGGGAGGGCGGGCTCAGGAATCCC ACACGCGGACTGC		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
B4GALT4_chr3_119206742_119245878	119242764	AGCCAGCC others(36): Show AGCCAGCCGCCCCGCCCGGGAGGTGGGGGGGCAGCCCCCGCCTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01123.hp2 HG01952.hp1 others(5): Show HG00639.hp1 HG01123.hp2 HG01952.hp1 HG02293.hp2 NA18939.hp2 NA18963.hp2 NA18986.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0018 a0001c0001t0003g0041 a0001c0001t0003g0145 others(2): Show a0001c0001t0003g0018 a0001c0001t0003g0041 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0168	8	436	0.0184	-43	c.-23 others(54): Show c.-2321_-2279delCAGGCGGGGGCTGCCCCCCCACCTCCCGGGCGGG GCGGCTGGC		B4GALT4	ENSG00000121578.13	transcript	ENST00000393765.7	protein_coding					1887		chr3	TogoVar
BACE2_chr21_41163160_41287530	41249148	TTAGTGAG others(36): Show TTAGTGAGCCCCACATGTACACTTGGCCTCAGTGGACTCAGGAC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01074.hp2 HG01109.hp1 others(21): Show HG00408.hp1 HG01074.hp2 HG01109.hp1 HG01175.hp1 HG01257.hp1 HG01258.hp2 HG02027.hp1 HG02257.hp1 HG02280.hp2 HG02486.hp1 HG02615.hp1 HG02630.hp2 HG02970.hp2 HG03486.hp2 HG04184.hp1 NA18612.hp2 NA18747.hp1 NA18945.hp1 NA18950.hp2 NA18980.hp2 NA18987.hp1 NA18993.hp2 NA19063.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0015 a0001c0001t0019 others(2): Show a0001c0001t0004 a0001c0001t0015 a0001c0001t0019 a0001c0001t0042 a0001c0001t0063	a0001c0001t0004g0017 a0001c0001t0004g0018 a0001c0001t0004g0023 others(21): Show a0001c0001t0004g0017 a0001c0001t0004g0018 a0001c0001t0004g0023 a0001c0001t0004g0038 a0001c0001t0004g0044 a0001c0001t0004g0072 a0001c0001t0004g0074 a0001c0001t0004g0095 a0001c0001t0004g0104 a0001c0001t0004g0129 a0001c0001t0004g0141 a0001c0001t0004g0158 a0001c0001t0004g0172 a0001c0001t0004g0200 a0001c0001t0004g0202 a0001c0001t0004g0214 a0001c0001t0004g0228 a0001c0001t0004g0241 a0001c0001t0015g0067 a0001c0001t0015g0090 a0001c0001t0015g0133 a0001c0001t0019g0211 a0001c0001t0042g0248 a0001c0001t0063g0174	24	272	0.0882	-43	c.985 others(60): Show c.985-1572_985-1530delTGGACTCAGGACTAGTGAGCCCCACATG TACACTTGGCCTCAG		BACE2	ENSG00000182240.16	transcript	ENST00000330333.11	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr21	TogoVar

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