Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
SERPIND1_chr22_20769113_20792720	20770579	GACACACA others(11): Show GACACACACACACACACAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 NA18974.hp2 NA18989.hp1 HG02818.hp2 NA18974.hp2 NA18989.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0009 a0001c0001 a0009c0009	a0001c0001t0001 a0009c0009t0001 a0001c0001t0001 a0009c0009t0001	a0001c0001t0001g0013 a0001c0001t0001g0049 a0009c0009t0001g0059 a0001c0001t0001g0013 a0001c0001t0001g0049 a0009c0009t0001g0059	3	36	0.0833	-18	c.-35 others(29): Show c.-3582_-3565delACACACACACACACACAC	SERPIND1	ENSG00000099937.11	transcript	ENST00000215727.10	protein_coding		3533		chr22	TogoVar
SERPINE1_chr7_101122104_101144247	101140278	AAGAAAGA others(11): Show AAGAAAGAAAGAAAGAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00621.hp1 HG00673.hp2 others(23): Show HG00597.hp2 HG00621.hp1 HG00673.hp2 HG01081.hp2 HG01106.hp2 HG02040.hp1 HG02040.hp2 HG02080.hp2 HG02148.hp1 HG02165.hp2 HG02622.hp1 HG02723.hp2 HG03239.hp1 HG03239.hp2 HG03834.hp1 NA18943.hp1 NA18951.hp2 NA18966.hp2 NA18967.hp2 NA18990.hp1 NA19030.hp2 NA19054.hp2 NA19056.hp2 NA19063.hp2 NA19090.hp1 NA20752.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0002 a0001c0001 a0002c0003 a0003c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0037 a0002c0003t0003 a0002c0003t0004 a0002c0003t0030 a0003c0002t0002	a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0067 others(15): Show a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0067 a0001c0001t0002g0077 a0001c0001t0002g0099 a0001c0001t0002g0208 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0225 a0001c0001t0003g0048 a0001c0001t0003g0086 a0001c0001t0003g0310 a0001c0001t0005g0011 a0001c0001t0037g0003 a0002c0003t0003g0008 a0002c0003t0004g0006 a0002c0003t0030g0296 a0003c0002t0002g0229	26	433	0.0600	-18	c.28 others(29): Show c.2837_*2854delAGAAAGAAAGAAAGAAAG	SERPINE1	ENSG00000106366.9	transcript	ENST00000223095.5	protein_coding		1032		chr7	TogoVar
SERPINI1_chr3_167730721_167830569	167760561	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01433.hp1 NA19030.hp1 HG01433.hp1 NA19030.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0195 a0001c0004t0001g0198 a0001c0004t0001g0195 a0001c0004t0001g0198	2	15	0.1333	-18	c.-19 others(37): Show c.-19+24770_-19+24787delGTGTGTGTGTGTGTGTGT	SERPINI1	ENSG00000163536.13	transcript	ENST00000446050.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr3	TogoVar
SERPINI1_chr3_167730721_167830569	167772891	TATACACA others(11): Show TATACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02572.hp1 HG03490.hp2 others(1): Show HG01099.hp1 HG02572.hp1 HG03490.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0061 a0002c0002t0001g0200 a0002c0002t0001g0204 others(1): Show a0002c0002t0001g0061 a0002c0002t0001g0200 a0002c0002t0001g0204 a0002c0002t0001g0226	4	228	0.0175	-18	c.-18 others(37): Show c.-18-16218_-18-16201delTACACACACACACACACA	SERPINI1	ENSG00000163536.13	transcript	ENST00000446050.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr3	TogoVar
SERPINI1_chr3_167730721_167830569	167775225	TTTATTAT others(11): Show TTTATTATTATTATTATTA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	46	0.0217	-18	c.-18 others(37): Show c.-18-13850_-18-13833delATTATTATTATTATTATT	SERPINI1	ENSG00000163536.13	transcript	ENST00000446050.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr3	TogoVar
SESN1_chr6_108979309_109099846	109044311	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp1 others(24): Show HG00099.hp1 HG00280.hp2 HG00323.hp1 HG00438.hp1 HG00639.hp2 HG00738.hp1 HG01123.hp2 HG01175.hp1 HG01257.hp1 HG01433.hp2 HG01952.hp1 HG02683.hp2 HG02735.hp1 HG02738.hp2 HG03130.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03834.hp2 NA18951.hp2 NA18998.hp2 NA19007.hp1 NA19063.hp2 NA19086.hp2 NA19088.hp2 NA20129.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0002 a0002c0002t0002 a0001c0001t0001 a0001c0003t0002 a0002c0002t0002	a0001c0001t0001g0049 a0001c0001t0001g0087 a0001c0003t0002g0182 others(24): Show a0001c0001t0001g0049 a0001c0001t0001g0087 a0001c0003t0002g0182 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0129	27	67	0.4030	-18	c.280 others(37): Show c.280-41986_280-41969delTTTTTTTTTTTTTTTTTT	SESN1	ENSG00000080546.14	transcript	ENST00000436639.7	protein_coding	1/9			chr6	TogoVar
SESN1_chr6_108979309_109099846	109099525	CTTTTATT others(11): Show CTTTTATTTATTTATTTAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 NA21309.hp1 HG02647.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0134 a0001c0001t0003g0135 a0001c0001t0001g0134 a0001c0001t0003g0135	2	182	0.0110	-18	c.-54 others(29): Show c.-5470_-5453delATAAATAAATAAATAAAA	SESN1	ENSG00000080546.14	transcript	ENST00000436639.7	protein_coding		4680		chr6	TogoVar
SESN3_chr11_95160513_95236202	95160838	AACACACA others(11): Show AACACACACACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG02109.hp2 HG02615.hp1 HG01257.hp2 HG02109.hp2 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0015 a0001c0002t0042 a0001c0002t0045 a0001c0001t0015 a0001c0002t0042 a0001c0002t0045	a0001c0001t0015g0298 a0001c0002t0042g0066 a0001c0002t0045g0069 a0001c0001t0015g0298 a0001c0002t0042g0066 a0001c0002t0045g0069	3	65	0.0462	-18	c.12 others(31): Show c.12399_*12416delGTGTGTGTGTGTGTGTGT	SESN3	ENSG00000149212.12	transcript	ENST00000536441.7	protein_coding		4674		chr11	TogoVar
SESN3_chr11_95160513_95236202	95186194	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18969.hp2 NA18940.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0063 a0001c0001t0038g0064 a0001c0001t0038g0063 a0001c0001t0038g0064	2	34	0.0588	-18	c.526 others(33): Show c.526-720_526-703delCACACACACACACACACA	SESN3	ENSG00000149212.12	transcript	ENST00000536441.7	protein_coding	4/9			chr11	TogoVar
SESTD1_chr2_179096678_179269832	179230113	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02683.hp2 HG00408.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0044 a0001c0001t0005g0131 a0001c0001t0004g0044 a0001c0001t0005g0131	2	23	0.0870	-18	c.-26 others(37): Show c.-26+34368_-26+34385delAAAAAAAAAAAAAAAAAA	SESTD1	ENSG00000187231.14	transcript	ENST00000428443.8	protein_coding	1/17			chr2	TogoVar
SETBP1_chr18_44675888_45073510	44785792	CTAGCTTC others(11): Show CTAGCTTCTCTCTTATATG	C C	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0112 a0001c0005t0001g0112	1	138	0.0072	-18	c.487 others(37): Show c.487-83436_487-83419delAGCTTCTCTCTTATATGT	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETBP1_chr18_44675888_45073510	44868693	AGAGAGGA others(11): Show AGAGAGGACGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0002 a0006c0007t0002	a0006c0007t0002g0118 a0006c0007t0002g0118	1	138	0.0072	-18	c.487 others(33): Show c.487-533_487-516delAGGACGGAAGGAAGGGAG	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETBP1_chr18_44675888_45073510	44868698	GGACGGAA others(11): Show GGACGGAAGGAAGGGAGGA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG02080.hp2 others(11): Show HG00140.hp1 HG00438.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02523.hp2 HG02572.hp2 HG02809.hp1 HG02976.hp2 HG03710.hp1 HG06807.hp1 NA18989.hp2 NA19000.hp2 NA19083.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0002c0002t0002 a0003c0003t0011 a0004c0004t0001 a0005c0006t0001 a0005c0006t0022	a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0018 others(11): Show a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0055 a0001c0001t0001g0094 a0001c0001t0002g0097 a0001c0001t0003g0057 a0002c0002t0001g0121 a0002c0002t0002g0044 a0003c0003t0011g0064 a0004c0004t0001g0053 a0005c0006t0001g0007 a0005c0006t0001g0078 a0005c0006t0022g0092	14	114	0.1228	-18	c.487 others(33): Show c.487-531_487-514delGACGGAAGGAAGGGAGGA	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	2/5			chr18	TogoVar
SETD1A_chr16_30952754_30989664	30982647	TCAGGAGA others(11): Show TCAGGAGAGGGTCCTTCCG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00544.hp1 others(98): Show HG00323.hp1 HG00408.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01934.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02040.hp2 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02257.hp1 HG02273.hp1 HG02280.hp2 HG02300.hp2 HG02698.hp1 HG02922.hp1 HG03239.hp1 HG03540.hp2 HG04184.hp2 NA18747.hp2 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18946.hp1 NA18946.hp2 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18990.hp1 NA18990.hp2 NA18995.hp2 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19012.hp2 NA19057.hp1 NA19063.hp1 NA19081.hp1 NA19085.hp1 NA19088.hp2 NA19091.hp1 NA20129.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0001 a0006 a0011 a0001 a0006 a0011	a0001c0001 a0001c0003 a0001c0005 others(12): Show a0001c0001 a0001c0003 a0001c0005 a0001c0008 a0001c0011 a0001c0012 a0001c0014 a0001c0020 a0001c0022 a0001c0024 a0001c0025 a0001c0027 a0001c0028 a0006c0019 a0011c0017	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(15): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0003t0001 a0001c0005t0001 a0001c0008t0001 a0001c0011t0001 a0001c0012t0001 a0001c0014t0001 a0001c0020t0001 a0001c0022t0001 a0001c0024t0001 a0001c0025t0001 a0001c0027t0001 a0001c0028t0001 a0006c0019t0001 a0011c0017t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(57): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0006g0084 a0001c0001t0007g0001 a0001c0001t0008g0001 a0001c0003t0001g0001 a0001c0003t0001g0114 a0001c0003t0001g0128 a0001c0003t0001g0140 a0001c0003t0001g0156 a0001c0005t0001g0027 a0001c0005t0001g0130 a0001c0005t0001g0132 a0001c0005t0001g0139 a0001c0008t0001g0123 a0001c0008t0001g0124 a0001c0011t0001g0001 a0001c0011t0001g0112 a0001c0012t0001g0135 a0001c0012t0001g0136 a0001c0014t0001g0116 a0001c0020t0001g0001 a0001c0022t0001g0134 a0001c0024t0001g0001 a0001c0025t0001g0029 a0001c0027t0001g0001 a0001c0028t0001g0001 a0006c0019t0001g0001 a0011c0017t0001g0027	101	272	0.3713	-18	c.481 others(35): Show c.4813-959_4813-942delTCCTTCCGCAGGAGAGGG	SETD1A	ENSG00000099381.20	transcript	ENST00000262519.14	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr16	TogoVar
SETD2_chr3_47011436_47169113	47044344	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02486.hp1 HG01934.hp1 HG02486.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0005 a0001c0005t0001 a0001c0005t0005	a0001c0005t0001g0154 a0001c0005t0005g0072 a0001c0005t0001g0154 a0001c0005t0005g0072	2	22	0.0909	-18	c.709 others(37): Show c.7099-1662_7099-1645delTTTTTTTTTTTTTTTTTT	SETD2	ENSG00000181555.22	transcript	ENST00000409792.4	protein_coding	16/20			chr3	TogoVar
SETD3_chr14_99392748_99485859	99403451	ACACACTC others(11): Show ACACACTCTCTCTCTCTCT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02809.hp1 HG03471.hp1 others(1): Show HG02258.hp2 HG02809.hp1 HG03471.hp1 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0134 a0001c0002t0002g0279 a0001c0002t0002g0280 others(1): Show a0001c0002t0002g0134 a0001c0002t0002g0279 a0001c0002t0002g0280 a0001c0002t0002g0281	4	279	0.0143	-18	c.117 others(35): Show c.1177+756_1177+773delAGAGAGAGAGAGAGTGTG	SETD3	ENSG00000183576.13	transcript	ENST00000331768.10	protein_coding	11/12			chr14	TogoVar
SETD3_chr14_99392748_99485859	99403472	CTCTCTCT others(11): Show CTCTCTCTCTCTCTCTCTT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0143 a0001c0002t0005g0143	1	288	0.0035	-18	c.117 others(35): Show c.1177+735_1177+752delAAGAGAGAGAGAGAGAGA	SETD3	ENSG00000183576.13	transcript	ENST00000331768.10	protein_coding	11/12			chr14	TogoVar
SETD5_chr3_9392615_9483154	9426212	CCTTTTTT others(11): Show CCTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02071.hp2 NA21309.hp1 HG02071.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0104 a0001c0001t0006g0205 a0001c0001t0002g0104 a0001c0001t0006g0205	2	17	0.1176	-18	c.-11 others(37): Show c.-117+1687_-117+1704delCTTTTTTTTTTTTTTTTT	SETD5	ENSG00000168137.20	transcript	ENST00000402198.7	protein_coding	2/22			chr3	TogoVar
SETDB1_chr1_150921363_150969737	150933767	CTTTTTCT others(11): Show CTTTTTCTTTTTCTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0022 a0001c0001t0006g0022	1	340	0.0029	-18	c.412 others(35): Show c.412+3655_412+3672delCTTTTTCTTTTTTTTTTT	SETDB1	ENSG00000143379.13	transcript	ENST00000692827.1	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
SETDB2_chr13_49439274_49500003	49483609	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0282 a0001c0002t0012g0282	1	15	0.0667	-18	c.148 others(33): Show c.1482+66_1482+83delTTTTTTTTTTTTTTTTTT	SETDB2	ENSG00000136169.17	transcript	ENST00000611815.2	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr13	TogoVar
SETX_chr9_132256356_132359986	132278437	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00408.hp1 others(65): Show HG00099.hp2 HG00323.hp2 HG00408.hp1 HG00609.hp1 HG00735.hp2 HG01099.hp1 HG01358.hp2 HG01515.hp2 HG01517.hp2 HG01891.hp1 HG01943.hp2 HG01978.hp1 HG02027.hp2 HG02056.hp2 HG02132.hp2 HG02145.hp1 HG02300.hp1 HG02615.hp2 HG02809.hp2 HG02818.hp1 HG02896.hp1 HG02922.hp1 HG02970.hp1 HG02976.hp2 HG03195.hp2 HG03540.hp1 HG03669.hp2 HG03704.hp1 HG03831.hp1 HG03942.hp2 HG04115.hp1 NA18941.hp2 NA18944.hp2 NA18946.hp1 NA18949.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18957.hp2 NA18964.hp2 NA18967.hp2 NA18968.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18977.hp2 NA18979.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18990.hp2 NA18992.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA19004.hp1 NA19011.hp2 NA19055.hp1 NA19063.hp2 NA19064.hp2 NA19066.hp2 NA19079.hp1 NA19081.hp1 NA19084.hp1 NA19087.hp2 NA19088.hp1	a0002 a0005 a0006 others(8): Show a0002 a0005 a0006 a0007 a0013 a0021 a0022 a0033 a0036 a0039 a0042	a0002c0002 a0005c0004 a0006c0047 others(8): Show a0002c0002 a0005c0004 a0006c0047 a0007c0006 a0013c0014 a0021c0023 a0022c0021 a0033c0044 a0036c0031 a0039c0057 a0042c0055	a0002c0002t0003 a0002c0002t0014 a0002c0002t0021 others(13): Show a0002c0002t0003 a0002c0002t0014 a0002c0002t0021 a0002c0002t0031 a0005c0004t0002 a0006c0047t0003 a0007c0006t0003 a0007c0006t0013 a0013c0014t0003 a0013c0014t0022 a0021c0023t0003 a0022c0021t0001 a0033c0044t0003 a0036c0031t0003 a0039c0057t0003 a0042c0055t0003	a0002c0002t0003g0004 a0002c0002t0003g0006 a0002c0002t0003g0007 others(64): Show a0002c0002t0003g0004 a0002c0002t0003g0006 a0002c0002t0003g0007 a0002c0002t0003g0008 a0002c0002t0003g0009 a0002c0002t0003g0011 a0002c0002t0003g0012 a0002c0002t0003g0015 a0002c0002t0003g0016 a0002c0002t0003g0018 a0002c0002t0003g0020 a0002c0002t0003g0021 a0002c0002t0003g0022 a0002c0002t0003g0023 a0002c0002t0003g0026 a0002c0002t0003g0027 a0002c0002t0003g0030 a0002c0002t0003g0032 a0002c0002t0003g0033 a0002c0002t0003g0035 a0002c0002t0003g0037 a0002c0002t0003g0038 a0002c0002t0003g0040 a0002c0002t0003g0041 a0002c0002t0003g0045 a0002c0002t0003g0047 a0002c0002t0003g0048 a0002c0002t0003g0049 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0003g0059 a0002c0002t0003g0060 a0002c0002t0003g0232 a0002c0002t0014g0002 a0002c0002t0014g0003 a0002c0002t0021g0050 a0002c0002t0031g0025 a0005c0004t0002g0051 a0006c0047t0003g0341 a0007c0006t0003g0001 a0007c0006t0003g0236 a0007c0006t0003g0237 a0007c0006t0003g0238 a0007c0006t0003g0239 a0007c0006t0003g0240 a0007c0006t0003g0241 a0007c0006t0003g0242 a0007c0006t0003g0244 a0007c0006t0003g0245 a0007c0006t0003g0246 a0007c0006t0003g0251 a0007c0006t0003g0254 a0007c0006t0003g0282 a0007c0006t0013g0243 a0007c0006t0013g0249 a0007c0006t0013g0250 a0013c0014t0003g0150 a0013c0014t0003g0153 a0013c0014t0022g0152 a0021c0023t0003g0013 a0021c0023t0003g0014 a0022c0021t0001g0044 a0022c0021t0001g0046 a0033c0044t0003g0086 a0036c0031t0003g0252 a0039c0057t0003g0005 a0042c0055t0003g0031	68	81	0.8395	-18	c.665 others(35): Show c.6655-198_6655-181delAAAAAAAAAAAAAAAAAA	SETX	ENSG00000107290.14	transcript	ENST00000224140.6	protein_coding	20/25			chr9	TogoVar
SETX_chr9_132256356_132359986	132283835	TTGCCCTG others(11): Show TTGCCCTGTCTTTTTTTAG	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00609.hp2 HG02056.hp1 others(10): Show HG00558.hp2 HG00609.hp2 HG02056.hp1 NA18947.hp2 NA18948.hp1 NA18972.hp1 NA18975.hp1 NA18983.hp1 NA18985.hp1 NA18993.hp1 NA19055.hp2 NA19082.hp2 NA19085.hp2	a0003 a0003	a0003c0003 a0003c0053 a0003c0003 a0003c0053	a0003c0003t0002 a0003c0053t0002 a0003c0003t0002 a0003c0053t0002	a0003c0003t0002g0171 a0003c0003t0002g0172 a0003c0003t0002g0200 others(10): Show a0003c0003t0002g0171 a0003c0003t0002g0172 a0003c0003t0002g0200 a0003c0003t0002g0203 a0003c0003t0002g0204 a0003c0003t0002g0207 a0003c0003t0002g0208 a0003c0003t0002g0210 a0003c0003t0002g0211 a0003c0003t0002g0215 a0003c0003t0002g0218 a0003c0003t0002g0261 a0003c0053t0002g0199	13	360	0.0361	-18	c.639 others(35): Show c.6397-440_6397-423delCTAAAAAAAGACAGGGCA	SETX	ENSG00000107290.14	transcript	ENST00000224140.6	protein_coding	18/25			chr9	TogoVar
SEZ6L2_chr16_29866159_29904550	29874550	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02809.hp1 HG02886.hp2 others(1): Show HG01109.hp2 HG02809.hp1 HG02886.hp2 HG02970.hp1	a0001 a0001	a0001c0004 a0001c0009 a0001c0004 a0001c0009	a0001c0004t0011 a0001c0004t0013 a0001c0009t0013 a0001c0004t0011 a0001c0004t0013 a0001c0009t0013	a0001c0004t0011g0114 a0001c0004t0011g0115 a0001c0004t0013g0124 others(1): Show a0001c0004t0011g0114 a0001c0004t0011g0115 a0001c0004t0013g0124 a0001c0009t0013g0123	4	52	0.0769	-18	c.210 others(35): Show c.2105-839_2105-822delAAAAAAAAAAAAAAAAAA	SEZ6L2	ENSG00000174938.15	transcript	ENST00000617533.5	protein_coding	12/17			chr16	TogoVar
SEZ6L_chr22_26164462_26388596	26208848	CTCTGTGT others(11): Show CTCTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01070.hp2 HG01071.hp2 others(1): Show HG00140.hp1 HG01070.hp2 HG01071.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0009 a0001c0001 a0001c0003 a0001c0009	a0001c0001t0001 a0001c0003t0016 a0001c0009t0002 a0001c0001t0001 a0001c0003t0016 a0001c0009t0002	a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0003t0016g0171 others(1): Show a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0003t0016g0171 a0001c0009t0002g0170	4	225	0.0178	-18	c.94+ others(35): Show c.94+39087_94+39104delCTGTGTGTGTGTGTGTGT	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26208850	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0165 a0001c0001t0003g0165	1	62	0.0161	-18	c.94+ others(35): Show c.94+39125_94+39142delGTGTGTGTGTGTGTGTGT	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26240055	TACACACA others(11): Show TACACACATACAGACACAC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02559.hp1 HG02965.hp2 others(1): Show HG01884.hp2 HG02559.hp1 HG02965.hp2 HG03225.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0029 a0003c0004 a0005c0011 a0001c0029 a0003c0004 a0005c0011	a0001c0029t0023 a0003c0004t0002 a0003c0004t0004 others(1): Show a0001c0029t0023 a0003c0004t0002 a0003c0004t0004 a0005c0011t0001	a0001c0029t0023g0206 a0003c0004t0002g0017 a0003c0004t0004g0110 others(1): Show a0001c0029t0023g0206 a0003c0004t0002g0017 a0003c0004t0004g0110 a0005c0011t0001g0158	4	237	0.0169	-18	c.95- others(35): Show c.95-52343_95-52326delTACAGACACACACACACA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26304362	AAAGAAAG others(11): Show AAAGAAAGAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG01993.hp1 others(5): Show HG01516.hp1 HG01517.hp1 HG01993.hp1 HG01993.hp2 HG02280.hp2 HG02602.hp1 HG02965.hp1 HG03098.hp2	a0001 a0001	a0001c0003 a0001c0010 a0001c0030 others(1): Show a0001c0003 a0001c0010 a0001c0030 a0001c0036	a0001c0003t0001 a0001c0003t0022 a0001c0003t0027 others(3): Show a0001c0003t0001 a0001c0003t0022 a0001c0003t0027 a0001c0010t0002 a0001c0030t0001 a0001c0036t0015	a0001c0003t0001g0151 a0001c0003t0022g0208 a0001c0003t0027g0156 others(5): Show a0001c0003t0001g0151 a0001c0003t0022g0208 a0001c0003t0027g0156 a0001c0010t0002g0032 a0001c0010t0002g0238 a0001c0010t0002g0239 a0001c0030t0001g0123 a0001c0036t0015g0225	8	206	0.0388	-18	c.134 others(37): Show c.1349-1614_1349-1597delGAAAGAAGAAAGAAAGAA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26313586	ACACACAC others(11): Show ACACACACACACACACACG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03490.hp1 HG03492.hp2 HG02280.hp2 HG03490.hp1 HG03492.hp2	a0001 a0004 a0001 a0004	a0001c0030 a0004c0015 a0001c0030 a0004c0015	a0001c0030t0001 a0004c0015t0001 a0001c0030t0001 a0004c0015t0001	a0001c0030t0001g0123 a0004c0015t0001g0010 a0004c0015t0001g0011 a0001c0030t0001g0123 a0004c0015t0001g0010 a0004c0015t0001g0011	3	238	0.0126	-18	c.187 others(35): Show c.1877-164_1877-147delACACGCACACACACACAC	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26356642	AAATAATA others(11): Show AAATAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02630.hp1 HG02809.hp1 others(5): Show HG01891.hp2 HG02630.hp1 HG02809.hp1 HG02976.hp2 HG03139.hp1 HG03486.hp2 NA18946.hp1 NA19240.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0006 a0002c0002 others(3): Show a0001c0001 a0001c0006 a0002c0002 a0003c0004 a0003c0034 a0005c0011	a0001c0001t0003 a0001c0006t0004 a0002c0002t0001 others(4): Show a0001c0001t0003 a0001c0006t0004 a0002c0002t0001 a0002c0002t0017 a0003c0004t0029 a0003c0034t0001 a0005c0011t0004	a0001c0001t0003g0215 a0001c0006t0004g0228 a0002c0002t0001g0022 others(5): Show a0001c0001t0003g0215 a0001c0006t0004g0228 a0002c0002t0001g0022 a0002c0002t0001g0087 a0002c0002t0017g0096 a0003c0004t0029g0097 a0003c0034t0001g0019 a0005c0011t0004g0024	8	20	0.4000	-18	c.259 others(37): Show c.2599+5433_2599+5450delAATAATAATAATAATAAT	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6_chr17_28949905_29011033	28979880	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0140 a0001c0001t0012g0140	1	105	0.0095	-18	c.725 others(31): Show c.725-85_725-68delACACACACACACACACAC	SEZ6	ENSG00000063015.21	transcript	ENST00000317338.17	protein_coding	2/16			chr17	TogoVar
SF3A2_chr19_2231824_2253655	2250000	ACGACGCA others(11): Show ACGACGCAGGGCTCGGGGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp1 NA18961.hp2 NA18967.hp2 others(2): Show NA18953.hp1 NA18961.hp2 NA18967.hp2 NA18971.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0001 a0001c0001t0001g0011	5	418	0.0120	-18	c.14 others(29): Show c.1455_*1472delCGACGCAGGGCTCGGGGC	SF3A2	ENSG00000104897.10	transcript	ENST00000221494.10	protein_coding		1346		chr19	TogoVar
SFI1_chr22_31491536_31623588	31575085	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp2 HG00609.hp2 others(108): Show HG00280.hp1 HG00544.hp2 HG00609.hp2 HG00621.hp2 HG00673.hp2 HG01070.hp1 HG01074.hp1 HG01106.hp2 HG01167.hp2 HG01243.hp1 HG01261.hp1 HG01261.hp2 HG01496.hp1 HG01496.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp2 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02523.hp1 HG02559.hp1 HG02602.hp1 HG02622.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp2 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03927.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18940.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18951.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp2 NA18957.hp1 NA18960.hp2 NA18962.hp1 NA18968.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18981.hp2 NA18984.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA19004.hp2 NA19005.hp2 NA19011.hp2 NA19030.hp2 NA19055.hp1 NA19057.hp1 NA19060.hp1 NA19062.hp1 NA19066.hp1 NA19067.hp1 NA19070.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp1 NA19085.hp2 NA19088.hp2 NA19089.hp2 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2	a0001 a0002 a0004 others(8): Show a0001 a0002 a0004 a0007 a0009 a0012 a0014 a0015 a0017 a0018 a0026	a0001c0001 a0002c0002 a0002c0006 others(11): Show a0001c0001 a0002c0002 a0002c0006 a0004c0004 a0007c0007 a0007c0023 a0007c0024 a0009c0011 a0012c0037 a0014c0015 a0015c0022 a0017c0016 a0018c0014 a0026c0026	a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 others(13): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 a0002c0006t0001 a0004c0004t0001 a0007c0007t0001 a0007c0023t0001 a0007c0024t0001 a0009c0011t0001 a0012c0037t0001 a0014c0015t0001 a0015c0022t0001 a0017c0016t0001 a0018c0014t0001 a0026c0026t0001	a0001c0001t0001g0116 a0002c0002t0001g0001 a0002c0002t0001g0002 others(108): Show a0001c0001t0001g0116 a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0064 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0252 a0002c0002t0001g0312 a0002c0002t0001g0314 a0002c0002t0001g0315 a0002c0002t0001g0322 a0002c0002t0003g0066 a0002c0002t0003g0067 a0002c0002t0005g0061 a0002c0006t0001g0311 a0002c0006t0001g0313 a0004c0004t0001g0029 a0004c0004t0001g0039 a0004c0004t0001g0041 a0004c0004t0001g0042 a0004c0004t0001g0043 a0004c0004t0001g0046 a0004c0004t0001g0048 a0004c0004t0001g0054 a0004c0004t0001g0056 a0004c0004t0001g0057 a0004c0004t0001g0058 a0004c0004t0001g0059 a0004c0004t0001g0060 a0004c0004t0001g0213 a0007c0007t0001g0296 a0007c0007t0001g0297 a0007c0007t0001g0298 a0007c0007t0001g0299 a0007c0007t0001g0301 a0007c0007t0001g0303 a0007c0007t0001g0310 a0007c0023t0001g0302 a0007c0024t0001g0300 a0009c0011t0001g0050 a0009c0011t0001g0051 a0009c0011t0001g0052 a0009c0011t0001g0053 a0012c0037t0001g0089 a0014c0015t0001g0062 a0014c0015t0001g0063 a0015c0022t0001g0025 a0015c0022t0001g0080 a0017c0016t0001g0044 a0017c0016t0001g0047 a0018c0014t0001g0097 a0018c0014t0001g0102 a0026c0026t0001g0028	111	120	0.9250	-18	c.923 others(33): Show c.923-126_923-109delTGTGTGTGTGTGTGTGTG	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	9/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31582202	CATTTTAT others(11): Show CATTTTATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0003 a0003	a0003c0027 a0003c0027	a0003c0027t0001 a0003c0027t0001	a0003c0027t0001g0152 a0003c0027t0001g0152	1	290	0.0034	-18	c.124 others(37): Show c.1249-1672_1249-1655delATTTTATATATATATATA	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	12/32			chr22	TogoVar
SFMBT1_chr3_52898572_53051073	53040968	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03486.hp2 NA20129.hp2 HG02809.hp1 HG03486.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0314 a0001c0001t0004g0315 a0001c0001t0004g0316 a0001c0001t0004g0314 a0001c0001t0004g0315 a0001c0001t0004g0316	3	53	0.0566	-18	c.-13 others(37): Show c.-131+4830_-131+4847delAAAAAAAAAAAAAAAAAA	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	1/20			chr3	TogoVar
SFMBT2_chr10_7153624_7416034	7205315	ATCCTGGG others(11): Show ATCCTGGGCTCAAGCATTC	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02300.hp2 HG00738.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0136 a0001c0001t0008g0143 a0001c0001t0001g0136 a0001c0001t0008g0143	2	142	0.0141	-18	c.144 others(35): Show c.1444+482_1444+499delGAATGCTTGAGCCCAGGA	SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	12/20			chr10	TogoVar
SFMBT2_chr10_7153624_7416034	7228738	TTCTCTCT others(11): Show TTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02109.hp1 HG02723.hp2 others(8): Show HG01081.hp1 HG02109.hp1 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG02965.hp1 HG03098.hp2 HG03225.hp1 HG03516.hp1 HG03540.hp1 NA21309.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0005c0011	a0001c0001t0002 a0001c0001t0007 a0001c0001t0014 others(5): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0014 a0001c0001t0016 a0001c0002t0004 a0001c0003t0006 a0001c0003t0027 a0005c0011t0010	a0001c0001t0002g0007 a0001c0001t0007g0002 a0001c0001t0007g0054 others(8): Show a0001c0001t0002g0007 a0001c0001t0007g0002 a0001c0001t0007g0054 a0001c0001t0007g0068 a0001c0001t0014g0053 a0001c0001t0016g0029 a0001c0002t0004g0042 a0001c0003t0006g0018 a0001c0003t0006g0035 a0001c0003t0027g0034 a0005c0011t0010g0049	11	53	0.2075	-18	c.112 others(35): Show c.1121-819_1121-802delGAGAGAGAGAGAGAGAGA	SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	9/20			chr10	TogoVar
SFMBT2_chr10_7153624_7416034	7269703	AGTAAGTG others(11): Show AGTAAGTGTGTGCGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0127 a0001c0001t0023g0127	1	142	0.0070	-18	c.870 others(35): Show c.870+7171_870+7188delACACACGCACACACTTAC	SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	7/20			chr10	TogoVar
SFMBT2_chr10_7153624_7416034	7269707	AGTGTGTG others(11): Show AGTGTGTGCGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00642.hp1 HG00738.hp1 others(53): Show HG00408.hp2 HG00642.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01109.hp2 HG01192.hp1 HG01255.hp1 HG01496.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01993.hp2 HG02055.hp1 HG02080.hp1 HG02080.hp2 HG02145.hp2 HG02257.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp2 HG02602.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02922.hp1 HG02970.hp1 HG03017.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03710.hp2 HG03942.hp1 NA18983.hp1 NA18983.hp2 NA18995.hp1 NA18998.hp1 NA20129.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0003 a0001c0007 others(4): Show a0001c0001 a0001c0003 a0001c0007 a0002c0005 a0003c0004 a0004c0009 a0005c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0019 a0001c0001t0021 a0001c0001t0031 a0001c0001t0038 a0001c0003t0006 a0001c0003t0018 a0001c0003t0027 a0001c0007t0002 a0002c0005t0001 a0003c0004t0007 a0004c0009t0005 a0005c0011t0010	a0001c0001t0001g0065 a0001c0001t0001g0072 a0001c0001t0001g0103 others(53): Show a0001c0001t0001g0065 a0001c0001t0001g0072 a0001c0001t0001g0103 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0140 a0001c0001t0002g0007 a0001c0001t0002g0052 a0001c0001t0002g0057 a0001c0001t0002g0063 a0001c0001t0002g0095 a0001c0001t0002g0106 a0001c0001t0003g0022 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0081 a0001c0001t0003g0093 a0001c0001t0003g0100 a0001c0001t0003g0133 a0001c0001t0003g0141 a0001c0001t0004g0051 a0001c0001t0004g0076 a0001c0001t0005g0027 a0001c0001t0007g0017 a0001c0001t0008g0058 a0001c0001t0008g0102 a0001c0001t0008g0126 a0001c0001t0008g0131 a0001c0001t0008g0143 a0001c0001t0009g0043 a0001c0001t0009g0089 a0001c0001t0010g0003 a0001c0001t0010g0045 a0001c0001t0012g0080 a0001c0001t0013g0004 a0001c0001t0014g0060 a0001c0001t0015g0134 a0001c0001t0019g0031 a0001c0001t0021g0088 a0001c0001t0021g0128 a0001c0001t0031g0032 a0001c0001t0038g0144 a0001c0003t0006g0005 a0001c0003t0006g0006 a0001c0003t0006g0014 a0001c0003t0006g0018 a0001c0003t0018g0020 a0001c0003t0027g0034 a0001c0007t0002g0096 a0002c0005t0001g0059 a0002c0005t0001g0129 a0003c0004t0007g0040 a0004c0009t0005g0046 a0005c0011t0010g0049	56	93	0.6022	-18	c.870 others(35): Show c.870+7167_870+7184delACACACACACGCACACAC	SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	7/20			chr10	TogoVar
SFMBT2_chr10_7153624_7416034	7319640	CAAAGAGA others(11): Show CAAAGAGAGAGACAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG03017.hp1 HG01517.hp2 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0031 a0001c0001t0001 a0001c0001t0031	a0001c0001t0001g0113 a0001c0001t0031g0032 a0001c0001t0001g0113 a0001c0001t0031g0032	2	142	0.0141	-18	c.437 others(37): Show c.437-33704_437-33687delCTCTCTGTCTCTCTCTTT	SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	4/20			chr10	TogoVar
SFN_chr1_26858149_26869456	26868248	TTCTCTCT others(11): Show TTCTCTCTCTCTCTCTCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG02735.hp2 HG02809.hp2 others(3): Show HG01261.hp1 HG02735.hp2 HG02809.hp2 HG02886.hp2 NA19005.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	6	72	0.0833	-18	c.42 others(29): Show c.4290_*4307delTCTCTCTCTCTCTCTCTC	SFN	ENSG00000175793.12	transcript	ENST00000339276.6	protein_coding		3793		chr1	TogoVar
SFRP1_chr8_41256962_41314473	41288530	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02723.hp1 NA18522.hp2 HG02258.hp2 HG02723.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0032 a0001c0001t0004g0033 a0001c0001t0004g0111 a0001c0001t0003g0032 a0001c0001t0004g0033 a0001c0001t0004g0111	3	47	0.0638	-18	c.622 others(37): Show c.622+14913_622+14930delTTTTTTTTTTTTTTTTTT	SFRP1	ENSG00000104332.12	transcript	ENST00000220772.8	protein_coding	2/2			chr8	TogoVar
SFRP1_chr8_41256962_41314473	41310319	CAGGTGGG others(11): Show CAGGTGGGGCCGCCCATGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG03471.hp2 HG03540.hp2 HG02647.hp2 HG03471.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0026 a0001c0001t0027 a0001c0004t0042 a0001c0001t0026 a0001c0001t0027 a0001c0004t0042	a0001c0001t0026g0232 a0001c0001t0027g0010 a0001c0004t0042g0014 a0001c0001t0026g0232 a0001c0001t0027g0010 a0001c0004t0042g0014	3	382	0.0079	-18	c.-11 others(29): Show c.-1178_-1161delCCATGGGCGGCCCCACCT	SFRP1	ENSG00000104332.12	transcript	ENST00000220772.8	protein_coding		847		chr8	TogoVar
SFSWAP_chr12_131706090_131804738	131795979	AGGGGAGG others(11): Show AGGGGAGGGGAGGGGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0077	1	314	0.0032	-18	c.253 others(37): Show c.2535-1182_2535-1165delAGGGGGAGGGGAGGGGAG	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SFTA2_chr6_30926353_30937170	30928031	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	51	0.0196	-18	c.34 others(29): Show c.3439_*3456delAAAAAAAAAAAAAAAAAA	SFTA2	ENSG00000196260.5	transcript	ENST00000359086.4	protein_coding		3321		chr6	TogoVar
SFTPC_chr8_22156798_22169479	22157791	TATTTTGC others(11): Show TATTTTGCTTTGTAAAATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02486.hp2 HG02622.hp1 others(7): Show HG02258.hp2 HG02486.hp2 HG02622.hp1 HG02886.hp1 HG02976.hp2 HG03130.hp2 HG03486.hp1 HG03579.hp2 NA18906.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0003c0003t0002	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0002g0068 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0002g0068 a0001c0001t0004g0029 a0001c0001t0005g0028 a0003c0003t0002g0001	10	464	0.0216	-18	c.-40 others(29): Show c.-4037_-4020delATTTTGCTTTGTAAAATA	SFTPC	ENSG00000168484.13	transcript	ENST00000679463.1	protein_coding		4006		chr8	TogoVar
SFXN1_chr5_175473560_175534742	175500403	AACACACA others(11): Show AACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00597.hp1 others(78): Show HG00099.hp1 HG00423.hp1 HG00597.hp1 HG00738.hp1 HG01167.hp2 HG01168.hp2 HG01243.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01433.hp2 HG01515.hp1 HG01891.hp1 HG01928.hp1 HG01993.hp1 HG02015.hp1 HG02055.hp2 HG02080.hp1 HG02083.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02273.hp1 HG02486.hp2 HG02559.hp1 HG02602.hp1 HG02622.hp2 HG02683.hp2 HG02698.hp2 HG02735.hp1 HG02965.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03239.hp1 HG03490.hp2 HG03540.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp2 HG03942.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18955.hp2 NA18957.hp1 NA18960.hp1 NA18963.hp2 NA18965.hp1 NA18966.hp2 NA18969.hp2 NA18984.hp1 NA18998.hp1 NA19000.hp1 NA19009.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19057.hp1 NA19058.hp1 NA19065.hp1 NA19070.hp2 NA19078.hp1 NA19082.hp2 NA19086.hp2 NA19240.hp1 NA20752.hp2 NA21309.hp2	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0005c0008 a0006c0009	a0001c0001t0018 a0001c0002t0002 a0001c0002t0003 others(14): Show a0001c0001t0018 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0011 a0001c0002t0012 a0001c0002t0021 a0001c0002t0022 a0001c0002t0029 a0001c0002t0031 a0001c0002t0034 a0001c0002t0035 a0001c0002t0036 a0001c0002t0037 a0001c0004t0006 a0005c0008t0022 a0006c0009t0033	a0001c0001t0018g0238 a0001c0001t0018g0311 a0001c0001t0018g0312 others(69): Show a0001c0001t0018g0238 a0001c0001t0018g0311 a0001c0001t0018g0312 a0001c0001t0018g0313 a0001c0002t0002g0001 a0001c0002t0002g0008 a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0068 a0001c0002t0002g0071 a0001c0002t0002g0125 a0001c0002t0002g0126 a0001c0002t0002g0142 a0001c0002t0002g0183 a0001c0002t0002g0202 a0001c0002t0002g0209 a0001c0002t0002g0210 a0001c0002t0002g0211 a0001c0002t0002g0212 a0001c0002t0002g0223 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0002g0227 a0001c0002t0002g0229 a0001c0002t0002g0237 a0001c0002t0002g0239 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0251 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0281 a0001c0002t0002g0284 a0001c0002t0002g0285 a0001c0002t0002g0314 a0001c0002t0002g0316 a0001c0002t0002g0317 a0001c0002t0002g0318 a0001c0002t0002g0326 a0001c0002t0002g0329 a0001c0002t0002g0330 a0001c0002t0002g0331 a0001c0002t0002g0332 a0001c0002t0002g0343 a0001c0002t0002g0345 a0001c0002t0003g0222 a0001c0002t0006g0008 a0001c0002t0006g0012 a0001c0002t0006g0127 a0001c0002t0006g0280 a0001c0002t0006g0315 a0001c0002t0006g0322 a0001c0002t0011g0003 a0001c0002t0011g0204 a0001c0002t0011g0253 a0001c0002t0012g0016 a0001c0002t0012g0214 a0001c0002t0012g0226 a0001c0002t0012g0230 a0001c0002t0021g0257 a0001c0002t0021g0258 a0001c0002t0022g0012 a0001c0002t0029g0319 a0001c0002t0031g0256 a0001c0002t0034g0338 a0001c0002t0035g0327 a0001c0002t0036g0266 a0001c0002t0037g0328 a0001c0004t0006g0154 a0005c0008t0022g0208 a0006c0009t0033g0346	81	148	0.5473	-18	c.164 others(35): Show c.164+8170_164+8187delCACACACACACACACACA	SFXN1	ENSG00000164466.13	transcript	ENST00000321442.10	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
SFXN1_chr5_175473560_175534742	175524121	AAAAAATA others(11): Show AAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00741.hp2 HG01257.hp1 others(5): Show HG00140.hp2 HG00741.hp2 HG01257.hp1 HG01943.hp2 HG02559.hp2 HG02738.hp1 HG03710.hp1 NA19005.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0011 a0001c0001 a0001c0003 a0003c0011	a0001c0001t0001 a0001c0001t0004 a0001c0001t0026 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0026 a0001c0001t0059 a0001c0003t0004 a0001c0003t0008 a0003c0011t0004	a0001c0001t0001g0116 a0001c0001t0004g0275 a0001c0001t0026g0069 others(5): Show a0001c0001t0001g0116 a0001c0001t0004g0275 a0001c0001t0026g0069 a0001c0001t0026g0233 a0001c0001t0059g0207 a0001c0003t0004g0072 a0001c0003t0008g0023 a0003c0011t0004g0074	8	348	0.0230	-18	c.872 others(35): Show c.872+1701_872+1718delAAAATATATATATATATA	SFXN1	ENSG00000164466.13	transcript	ENST00000321442.10	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
SFXN1_chr5_175473560_175534742	175524123	AAAATATA others(11): Show AAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01175.hp1 HG01255.hp2 others(19): Show HG00673.hp2 HG01175.hp1 HG01255.hp2 HG02071.hp1 HG02080.hp2 HG02129.hp2 HG02148.hp2 HG02258.hp2 HG02273.hp2 HG02451.hp1 HG06807.hp2 NA18939.hp1 NA18950.hp2 NA18963.hp1 NA18965.hp2 NA18975.hp1 NA18982.hp1 NA18983.hp2 NA18989.hp1 NA18990.hp2 NA18995.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0004 a0001c0001t0008 a0001c0001t0013 others(4): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0013 a0001c0001t0019 a0001c0001t0056 a0001c0001t0062 a0001c0012t0004	a0001c0001t0004g0006 a0001c0001t0004g0039 a0001c0001t0004g0040 others(19): Show a0001c0001t0004g0006 a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0004g0045 a0001c0001t0004g0050 a0001c0001t0004g0158 a0001c0001t0004g0159 a0001c0001t0004g0162 a0001c0001t0004g0163 a0001c0001t0004g0166 a0001c0001t0004g0168 a0001c0001t0004g0170 a0001c0001t0004g0250 a0001c0001t0008g0047 a0001c0001t0008g0161 a0001c0001t0013g0063 a0001c0001t0019g0064 a0001c0001t0019g0065 a0001c0001t0056g0006 a0001c0001t0062g0049 a0001c0012t0004g0337	22	344	0.0640	-18	c.872 others(35): Show c.872+1703_872+1720delAATATATATATATATATA	SFXN1	ENSG00000164466.13	transcript	ENST00000321442.10	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
SFXN1_chr5_175473560_175534742	175524125	AATATATA others(11): Show AATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00621.hp2 NA18947.hp1 others(2): Show HG00609.hp2 HG00621.hp2 NA18947.hp1 NA18998.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0325 a0001c0001t0004g0043 a0001c0001t0004g0052 others(2): Show a0001c0001t0001g0325 a0001c0001t0004g0043 a0001c0001t0004g0052 a0001c0001t0004g0160 a0001c0001t0004g0165	5	328	0.0152	-18	c.872 others(35): Show c.872+1732_872+1749delATATATATATATATATAT	SFXN1	ENSG00000164466.13	transcript	ENST00000321442.10	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
SFXN3_chr10_101026234_101046241	101026663	TCACACAC others(11): Show TCACACACACACACACACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 HG03669.hp1 HG04199.hp2 others(5): Show HG03239.hp1 HG03669.hp1 HG04199.hp2 NA18977.hp1 NA19000.hp2 NA19090.hp1 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0013 a0001c0001t0002g0005 a0001c0001t0002g0031 others(3): Show a0001c0001t0001g0013 a0001c0001t0002g0005 a0001c0001t0002g0031 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0045	8	91	0.0879	-18	c.-50 others(29): Show c.-5043_-5026delCACACACACACACACACA	SFXN3	ENSG00000107819.15	transcript	ENST00000393459.6	protein_coding		4570		chr10	TogoVar

Search by Variant

Search

Search Results