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
SORCS2_chr4_7187538_7747827	7374108	ATTCTTTC others(21): Show ATTCTTTCTTTCTTTCTTTCCCTCTTTCT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG01258.hp2 others(7): Show HG00438.hp1 HG00438.hp2 HG01258.hp2 HG01934.hp2 HG02056.hp1 HG02056.hp2 HG02615.hp2 HG03017.hp1 HG06807.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0002c0004	a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 others(7): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0001c0002t0002 a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 a0001c0003t0015 a0001c0005t0006 a0002c0004t0005	a0001c0001t0002g0130 a0001c0001t0007g0111 a0001c0001t0009g0142 others(7): Show a0001c0001t0002g0130 a0001c0001t0007g0111 a0001c0001t0009g0142 a0001c0002t0002g0133 a0001c0002t0003g0082 a0001c0003t0001g0081 a0001c0003t0002g0073 a0001c0003t0015g0091 a0001c0005t0006g0157 a0002c0004t0005g0083	10	131	0.0763	-28	c.481 others(47): Show c.481-22160_481-22133delCCTCTTTCTTTCTTTCTTTCTTTCTT TC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7426290	TGGCTTTG others(21): Show TGGCTTTGAGCCAGGGGAGGCCCGAGGAC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp1 HG00639.hp2 others(86): Show HG00323.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01109.hp2 HG01123.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01952.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0013 a0014 a0015 a0017 a0018	a0001c0001 a0001c0002 a0001c0003 others(38): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0009 a0001c0010 a0001c0011 a0001c0014 a0001c0015 a0001c0016 a0001c0017 a0001c0029 a0001c0036 a0001c0037 a0001c0038 a0001c0048 a0001c0049 a0001c0051 a0001c0053 a0002c0004 a0003c0012 a0003c0013 a0003c0035 a0003c0042 a0004c0007 a0004c0043 a0005c0018 a0005c0021 a0005c0022 a0006c0008 a0006c0045 a0007c0027 a0008c0056 a0009c0024 a0010c0032 a0013c0055 a0014c0052 a0015c0054 a0017c0019 a0018c0025	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(83): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0013 a0001c0001t0017 a0001c0001t0029 a0001c0001t0036 a0001c0001t0048 a0001c0001t0055 a0001c0001t0058 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0002t0008 a0001c0002t0011 a0001c0002t0021 a0001c0002t0039 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0011 a0001c0003t0014 a0001c0003t0015 a0001c0003t0016 a0001c0003t0020 a0001c0003t0023 a0001c0003t0050 a0001c0005t0001 a0001c0005t0003 a0001c0005t0005 a0001c0005t0008 a0001c0005t0016 a0001c0006t0001 a0001c0006t0003 a0001c0006t0052 a0001c0009t0037 a0001c0010t0026 a0001c0010t0059 a0001c0010t0060 a0001c0011t0015 a0001c0011t0045 a0001c0014t0001 a0001c0014t0016 a0001c0015t0011 a0001c0016t0001 a0001c0017t0002 a0001c0017t0015 a0001c0029t0061 a0001c0036t0040 a0001c0037t0017 a0001c0038t0032 a0001c0048t0001 a0001c0049t0001 a0001c0051t0001 a0001c0053t0001 a0002c0004t0004 a0002c0004t0005 a0002c0004t0007 a0002c0004t0009 a0002c0004t0047 a0003c0012t0034 a0003c0012t0046 a0003c0013t0018 a0003c0035t0008 a0003c0042t0004 a0004c0007t0001 a0004c0007t0014 a0004c0043t0031 a0005c0018t0043 a0005c0021t0056 a0005c0022t0033 a0006c0008t0001 a0006c0008t0006 a0006c0045t0001 a0007c0027t0002 a0008c0056t0018 a0009c0024t0002 a0010c0032t0019 a0013c0055t0006 a0014c0052t0003 a0015c0054t0020 a0017c0019t0013 a0018c0025t0019	a0001c0001t0002g0130 a0001c0001t0003g0003 a0001c0001t0003g0138 others(86): Show a0001c0001t0002g0130 a0001c0001t0003g0003 a0001c0001t0003g0138 a0001c0001t0005g0014 a0001c0001t0006g0125 a0001c0001t0007g0055 a0001c0001t0013g0011 a0001c0001t0017g0052 a0001c0001t0029g0141 a0001c0001t0036g0106 a0001c0001t0048g0094 a0001c0001t0055g0092 a0001c0001t0058g0161 a0001c0002t0001g0123 a0001c0002t0003g0018 a0001c0002t0004g0131 a0001c0002t0007g0076 a0001c0002t0008g0121 a0001c0002t0011g0112 a0001c0002t0021g0090 a0001c0002t0039g0070 a0001c0003t0001g0081 a0001c0003t0002g0079 a0001c0003t0004g0088 a0001c0003t0011g0080 a0001c0003t0014g0140 a0001c0003t0015g0091 a0001c0003t0016g0023 a0001c0003t0020g0043 a0001c0003t0023g0147 a0001c0003t0050g0005 a0001c0005t0001g0156 a0001c0005t0003g0032 a0001c0005t0005g0102 a0001c0005t0008g0065 a0001c0005t0016g0104 a0001c0006t0001g0054 a0001c0006t0003g0117 a0001c0006t0052g0084 a0001c0009t0037g0042 a0001c0010t0026g0105 a0001c0010t0059g0163 a0001c0010t0060g0167 a0001c0011t0015g0077 a0001c0011t0045g0107 a0001c0014t0001g0040 a0001c0014t0016g0139 a0001c0015t0011g0002 a0001c0015t0011g0015 a0001c0016t0001g0009 a0001c0017t0002g0056 a0001c0017t0015g0124 a0001c0029t0061g0162 a0001c0036t0040g0022 a0001c0037t0017g0017 a0001c0038t0032g0128 a0001c0048t0001g0146 a0001c0049t0001g0059 a0001c0051t0001g0068 a0001c0053t0001g0044 a0002c0004t0004g0012 a0002c0004t0005g0083 a0002c0004t0007g0136 a0002c0004t0009g0078 a0002c0004t0047g0134 a0003c0012t0034g0010 a0003c0012t0046g0033 a0003c0013t0018g0100 a0003c0035t0008g0075 a0003c0042t0004g0066 a0004c0007t0001g0026 a0004c0007t0001g0126 a0004c0007t0014g0166 a0004c0043t0031g0058 a0005c0018t0043g0145 a0005c0021t0056g0103 a0005c0022t0033g0153 a0006c0008t0001g0006 a0006c0008t0006g0155 a0006c0045t0001g0148 a0007c0027t0002g0116 a0008c0056t0018g0061 a0009c0024t0002g0108 a0010c0032t0019g0149 a0013c0055t0006g0150 a0014c0052t0003g0030 a0015c0054t0020g0113 a0017c0019t0013g0027 a0018c0025t0019g0025	89	168	0.5298	-28	c.548 others(47): Show c.548+29943_548+29970delAGCCAGGGGAGGCCCGAGGACGGCTT TG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7441995	CCTCCTCT others(21): Show CCTCCTCTCACAGCCCAGGTCACCATCCA	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02015.hp1 HG03942.hp1 HG00733.hp2 HG02015.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0016 a0001c0002 a0001c0003 a0001c0016	a0001c0002t0002 a0001c0003t0005 a0001c0016t0001 a0001c0002t0002 a0001c0003t0005 a0001c0016t0001	a0001c0002t0002g0074 a0001c0003t0005g0086 a0001c0016t0001g0009 a0001c0002t0002g0074 a0001c0003t0005g0086 a0001c0016t0001g0009	3	167	0.0180	-28	c.548 others(47): Show c.548+45642_548+45669delTCCTCTCACAGCCCAGGTCACCATCC AC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7676928	CTCCCTCT others(21): Show CTCCCTCTCTCCCTCTCTCCCTCTGCCTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02257.hp1 HG02451.hp1 others(4): Show HG01109.hp2 HG02257.hp1 HG02451.hp1 HG02572.hp2 HG03225.hp2 HG03942.hp2 NA19043.hp2	a0001 a0005 a0006 others(2): Show a0001 a0005 a0006 a0008 a0012	a0001c0001 a0001c0002 a0005c0021 others(4): Show a0001c0001 a0001c0002 a0005c0021 a0005c0022 a0006c0008 a0008c0056 a0012c0039	a0001c0001t0058 a0001c0002t0004 a0005c0021t0056 others(4): Show a0001c0001t0058 a0001c0002t0004 a0005c0021t0056 a0005c0022t0033 a0006c0008t0001 a0008c0056t0018 a0012c0039t0049	a0001c0001t0058g0161 a0001c0002t0004g0131 a0005c0021t0056g0103 others(4): Show a0001c0001t0058g0161 a0001c0002t0004g0131 a0005c0021t0056g0103 a0005c0022t0033g0153 a0006c0008t0001g0029 a0008c0056t0018g0061 a0012c0039t0049g0064	7	168	0.0417	-28	c.134 others(45): Show c.1341+700_1341+727delTCCCTCTCTCCCTCTCTCCCTCTGCCTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	9/26			chr4	TogoVar
SORCS3_chr10_104636290_105270242	104684779	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0002 a0001c0018t0002	a0001c0018t0002g0063 a0001c0018t0002g0063	1	21	0.0476	-28	c.627 others(47): Show c.627+42852_627+42879delTTTTTTTTTTTTTTTTTTTTTTTTTT TT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104751924	CATATATA others(21): Show CATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02622.hp1 HG02970.hp2 others(5): Show HG01433.hp1 HG02622.hp1 HG02970.hp2 HG03098.hp1 HG03139.hp1 HG06807.hp2 NA18906.hp1 NA19004.hp1	a0001 a0005 a0011 a0001 a0005 a0011	a0001c0001 a0001c0002 a0001c0015 others(2): Show a0001c0001 a0001c0002 a0001c0015 a0005c0007 a0011c0017	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0001c0015t0002 a0005c0007t0001 a0011c0017t0003	a0001c0001t0001g0122 a0001c0001t0002g0062 a0001c0001t0002g0123 others(5): Show a0001c0001t0001g0122 a0001c0001t0002g0062 a0001c0001t0002g0123 a0001c0002t0003g0128 a0001c0015t0002g0130 a0005c0007t0001g0060 a0005c0007t0001g0061 a0011c0017t0003g0088	8	20	0.4000	-28	c.628 others(47): Show c.628-90850_628-90823delTATATATATATATATATATATATATA TA	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORD_chr15_45018195_45082185	45038126	CCCTTCCT others(21): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02004.hp1 HG02647.hp1 others(5): Show HG01934.hp1 HG02004.hp1 HG02647.hp1 HG02717.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp2 NA18522.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0007 others(1): Show a0001c0001 a0002c0002 a0002c0007 a0003c0003	a0001c0001t0001 a0002c0002t0003 a0002c0007t0011 others(1): Show a0001c0001t0001 a0002c0002t0003 a0002c0007t0011 a0003c0003t0005	a0001c0001t0001g0096 a0001c0001t0001g0291 a0002c0002t0003g0292 others(5): Show a0001c0001t0001g0096 a0001c0001t0001g0291 a0002c0002t0003g0292 a0002c0007t0011g0087 a0002c0007t0011g0097 a0002c0007t0011g0098 a0003c0003t0005g0093 a0003c0003t0005g0094	8	65	0.1231	-28	c.67- others(43): Show c.67-2240_67-2213delCTTCCTTCCTTCCTTCCTTCCTTCCTTC	SORD	ENSG00000140263.15	transcript	ENST00000267814.14	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SORT1_chr1_109304575_109402918	109326438	TATATATA others(21): Show TATATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02976.hp1 HG03139.hp1 others(3): Show HG02922.hp1 HG02976.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0018 a0001c0003t0026 a0001c0003t0010 a0001c0003t0018 a0001c0003t0026	a0001c0003t0010g0147 a0001c0003t0010g0148 a0001c0003t0010g0150 others(3): Show a0001c0003t0010g0147 a0001c0003t0010g0148 a0001c0003t0010g0150 a0001c0003t0010g0152 a0001c0003t0018g0151 a0001c0003t0026g0149	6	238	0.0252	-28	c.164 others(45): Show c.1643+526_1643+553delGTATATATATATATATATATATATATAT	SORT1	ENSG00000134243.12	transcript	ENST00000256637.8	protein_coding	13/19			chr1	TogoVar
SORT1_chr1_109304575_109402918	109378699	GATATATA others(21): Show GATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02165.hp1 HG02647.hp1 others(3): Show HG01891.hp1 HG02165.hp1 HG02647.hp1 HG03139.hp2 NA18522.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0002t0003 a0001c0002t0006 others(1): Show a0001c0001t0002 a0001c0002t0003 a0001c0002t0006 a0001c0003t0008	a0001c0001t0002g0058 a0001c0001t0002g0063 a0001c0002t0003g0202 others(3): Show a0001c0001t0002g0058 a0001c0001t0002g0063 a0001c0002t0003g0202 a0001c0002t0006g0196 a0001c0002t0006g0236 a0001c0003t0008g0008	6	24	0.2500	-28	c.307 others(45): Show c.307-9138_307-9111delATATATATATATATATATATATATATAT	SORT1	ENSG00000134243.12	transcript	ENST00000256637.8	protein_coding	1/19			chr1	TogoVar
SOS2_chr14_50112130_50236578	50178666	GTGTGCAT others(21): Show GTGTGCATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	295	0.0034	-28	c.969 others(45): Show c.969+1878_969+1905delTATATATATATATATATATATATGCACA	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	7/22			chr14	TogoVar
SOSTDC1_chr7_16456481_16470738	16470044	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG02055.hp2 HG02976.hp1 others(1): Show HG00639.hp1 HG02055.hp2 HG02976.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0054 a0001c0001t0001g0017 a0001c0001t0001g0054	4	51	0.0784	-28	c.-44 others(39): Show c.-4404_-4377delTATATATATATATATATATATATATATA	SOSTDC1	ENSG00000171243.8	transcript	ENST00000307068.5	protein_coding		4307		chr7	TogoVar
SOWAHB_chr4_76889152_76903144	76891781	ATTTCCTG others(21): Show ATTTCCTGAGGTCAAAAAGACCCTTCTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0001 a0010c0015t0001	a0010c0015t0001g0000 a0010c0015t0001g0000	1	436	0.0023	-28	c.36 others(39): Show c.3659_*3686delAAAGAAGGGTCTTTTTGACCTCAGGAAA	SOWAHB	ENSG00000186212.4	transcript	ENST00000334306.4	protein_coding		2370		chr4	TogoVar
SOWAHB_chr4_76889152_76903144	76900839	AAAAAAAA others(21): Show AAAAAAAAAAAAACAAAAAAAAAAAAAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG02572.hp2 HG02622.hp1 others(3): Show HG01243.hp2 HG02572.hp2 HG02622.hp1 HG02886.hp2 HG02970.hp2 HG03041.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0009 a0004c0005t0009	a0004c0005t0009g0000 a0004c0005t0009g0000	6	436	0.0138	-28	c.-30 others(39): Show c.-3018_-2991delGTTTTTTTTTTTTTTGTTTTTTTTTTTT	SOWAHB	ENSG00000186212.4	transcript	ENST00000334306.4	protein_coding		2696		chr4	TogoVar
SOX2_chr3_181706925_181719436	181715433	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG01175.hp1 HG00280.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0000 a0001c0001t0008g0000	2	7	0.2857	-28	c.21 others(39): Show c.2120_*2147delTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SOX2	ENSG00000181449.4	transcript	ENST00000325404.3	protein_coding		998		chr3	TogoVar
SOX5_chr12_23524504_23954670	23570924	AAAAAAAA others(21): Show AAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG03942.hp2 HG01934.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0074 a0001c0001t0068 a0001c0001t0074	a0001c0001t0068g0060 a0001c0001t0074g0175 a0001c0001t0068g0060 a0001c0001t0074g0175	2	202	0.0099	-28	c.134 others(47): Show c.1342+4709_1342+4736delATATATATATATATATATATATTTTT TT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	10/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23570926	AAAAAATA others(21): Show AAAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01243.hp2 HG01261.hp2 others(13): Show HG01074.hp2 HG01243.hp2 HG01261.hp2 HG01433.hp1 HG01496.hp1 HG01928.hp1 HG02602.hp2 HG02683.hp2 HG02738.hp2 HG03041.hp2 HG03492.hp2 HG03540.hp2 HG03704.hp2 HG03942.hp1 HG06807.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0001t0017 a0001c0001t0021 a0001c0001t0030 a0001c0001t0059 a0001c0001t0090	a0001c0001t0001g0150 a0001c0001t0002g0006 a0001c0001t0002g0085 others(13): Show a0001c0001t0001g0150 a0001c0001t0002g0006 a0001c0001t0002g0085 a0001c0001t0002g0130 a0001c0001t0002g0159 a0001c0001t0002g0162 a0001c0001t0002g0170 a0001c0001t0002g0194 a0001c0001t0014g0110 a0001c0001t0014g0128 a0001c0001t0017g0151 a0001c0001t0021g0129 a0001c0001t0021g0139 a0001c0001t0030g0040 a0001c0001t0059g0160 a0001c0001t0090g0072	16	208	0.0769	-28	c.134 others(47): Show c.1342+4707_1342+4734delATATATATATATATATATATATATTT TT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	10/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23570928	AAAATATA others(21): Show AAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02717.hp2 HG03017.hp1 HG02559.hp2 HG02717.hp2 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0075 a0001c0001t0096 a0001c0001t0001 a0001c0001t0075 a0001c0001t0096	a0001c0001t0001g0172 a0001c0001t0075g0073 a0001c0001t0096g0074 a0001c0001t0001g0172 a0001c0001t0075g0073 a0001c0001t0096g0074	3	205	0.0146	-28	c.134 others(47): Show c.1342+4705_1342+4732delATATATATATATATATATATATATAT TT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	10/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23726118	CGAGAGAG others(21): Show CGAGAGAGAGAGAGAGAGAGAGAGAGAGA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02698.hp1 HG02723.hp1 others(5): Show HG02145.hp1 HG02698.hp1 HG02723.hp1 HG02809.hp2 HG02970.hp1 HG02970.hp2 HG03579.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0018 a0001c0001t0027 a0001c0001t0057 a0001c0001t0062 a0001c0001t0121	a0001c0001t0001g0114 a0001c0001t0004g0148 a0001c0001t0006g0068 others(5): Show a0001c0001t0001g0114 a0001c0001t0004g0148 a0001c0001t0006g0068 a0001c0001t0018g0059 a0001c0001t0027g0146 a0001c0001t0057g0087 a0001c0001t0062g0089 a0001c0001t0121g0186	8	22	0.3636	-28	c.810 others(45): Show c.810+8538_810+8565delTCTCTCTCTCTCTCTCTCTCTCTCTCTC	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	6/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23804915	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	9	0.1111	-28	c.481 others(47): Show c.481+41040_481+41067delTATATATATATATATATATATATATA TA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23837247	ATATTTAT others(21): Show ATATTTATATTTATATAATATATAATATG	A A	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0060 a0001c0001t0068g0060	1	210	0.0048	-28	c.481 others(45): Show c.481+8708_481+8735delCATATTATATATTATATAAATATAAATA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23837671	ATATATTT others(21): Show ATATATTTATATTTATATAATATATAAGC	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01175.hp2 others(6): Show HG01069.hp2 HG01071.hp2 HG01175.hp2 HG01243.hp2 HG01261.hp2 HG01496.hp1 HG01934.hp2 HG02717.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0017 others(5): Show a0001c0001t0001 a0001c0001t0015 a0001c0001t0017 a0001c0001t0021 a0001c0001t0056 a0001c0001t0061 a0001c0001t0063 a0001c0001t0070	a0001c0001t0001g0150 a0001c0001t0001g0172 a0001c0001t0015g0091 others(6): Show a0001c0001t0001g0150 a0001c0001t0001g0172 a0001c0001t0015g0091 a0001c0001t0017g0151 a0001c0001t0021g0139 a0001c0001t0056g0142 a0001c0001t0061g0136 a0001c0001t0063g0140 a0001c0001t0070g0137	9	165	0.0545	-28	c.481 others(45): Show c.481+8284_481+8311delGCTTATATATTATATAAATATAAATATA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SOX6_chr11_15961449_16361546	16063496	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0113 a0001c0001t0005g0113	1	29	0.0345	-28	c.110 others(47): Show c.1102-7623_1102-7596delTATATATATATATATATATATATATA TA	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	9/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16104456	ATTTCAAG others(21): Show ATTTCAAGATGTGGAACTCTTGGAAAAGT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01891.hp1 HG02622.hp1 others(2): Show HG00639.hp1 HG01891.hp1 HG02622.hp1 HG02630.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0044 others(1): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0044 a0001c0001t0046	a0001c0001t0005g0040 a0001c0001t0009g0038 a0001c0001t0009g0039 others(2): Show a0001c0001t0005g0040 a0001c0001t0009g0038 a0001c0001t0009g0039 a0001c0001t0044g0218 a0001c0001t0046g0217	5	216	0.0231	-28	c.899 others(45): Show c.899-6796_899-6769delACTTTTCCAAGAGTTCCACATCTTGAAA	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	7/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16132262	AGAAAGAA others(21): Show AGAAAGAAGGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG01943.hp2 NA18960.hp1 NA18968.hp2 others(1): Show HG01943.hp2 NA18960.hp1 NA18968.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0091 a0001c0001t0002g0109 others(1): Show a0001c0001t0002g0076 a0001c0001t0002g0091 a0001c0001t0002g0109 a0001c0001t0002g0173	4	170	0.0235	-28	c.778 others(47): Show c.778-20367_778-20340delCTTCCTTCCTTCCTTCCTTCCTTCTT TC	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16132382	GAAAGAAA others(21): Show GAAAGAAAGAAAGAAAGAAAAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0035 a0001c0001t0003g0035	1	215	0.0047	-28	c.778 others(47): Show c.778-20487_778-20460delTCTTTCTTTTTTCTTTCTTTCTTTCT TT	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16291229	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02630.hp1 HG02809.hp1 others(10): Show HG02622.hp2 HG02630.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02965.hp2 HG03041.hp1 HG03130.hp1 HG03225.hp2 HG03516.hp1 HG03579.hp2 NA18522.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0002t0009 a0001c0002t0022 a0001c0002t0025 a0001c0002t0036	a0001c0001t0001g0023 a0001c0002t0001g0064 a0001c0002t0001g0065 others(10): Show a0001c0001t0001g0023 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0082 a0001c0002t0003g0063 a0001c0002t0003g0077 a0001c0002t0003g0118 a0001c0002t0003g0119 a0001c0002t0003g0120 a0001c0002t0009g0030 a0001c0002t0022g0154 a0001c0002t0025g0069 a0001c0002t0036g0062	13	14	0.9286	-28	c.445 others(47): Show c.445+27189_445+27216delTATATATATATATATATATATATATA TA	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	3/15			chr11	TogoVar
SP110_chr2_230160186_230224984	230217346	AAGGCATC others(21): Show AAGGCATCCTTAGTAGCCTGCAAAGCAAT	A A	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0019 a0019	a0019c0027 a0019c0027	a0019c0027t0006 a0019c0027t0006	a0019c0027t0006g0377 a0019c0027t0006g0377	1	426	0.0023	-28	c.-1- others(41): Show c.-1-446_-1-419delATTGCTTTGCAGGCTACTAAGGATGCCT	SP110	ENSG00000135899.20	transcript	ENST00000258381.11	protein_coding	1/18			chr2	TogoVar
SP7_chr12_53321575_53341354	53336728	CTGTGTGT others(21): Show CTGTGTGTGTGTACGTGCCCGTGTGTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	368	0.0027	-28	c.-65 others(37): Show c.-658_-631delCACACACACGGGCACGTACACACACACA	SP7	ENSG00000170374.6	transcript	ENST00000536324.4	protein_coding		375		chr12	TogoVar
SPAG11A_chr8_7843008_7865943	7854993	AGAACGCA others(21): Show AGAACGCACTGCAGCACACCTGACTGCCT	A A	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0050 a0003c0003t0001g0050	1	130	0.0077	-28	c.215 others(45): Show c.215-5652_215-5625delGAACGCACTGCAGCACACCTGACTGCCT	SPAG11A	ENSG00000178287.18	transcript	ENST00000642566.2	protein_coding	2/2			chr8	TogoVar
SPAG16_chr2_213279464_214415501	213468452	TATATATA others(21): Show TATATATATCTCTATGTATTTATATATAG	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp2 HG03579.hp2 others(2): Show HG03225.hp1 HG03225.hp2 HG03579.hp2 NA18522.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0072 others(2): Show a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074	5	86	0.0581	-28	c.943 others(47): Show c.943-21502_943-21475delCTCTATGTATTTATATATAGATATAT AT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213593746	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	1	6	0.1667	-28	c.107 others(51): Show c.1070+103675_1070+103702delTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213643346	TTTTATAT others(21): Show TTTTATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0010 a0002c0002t0001g0010	1	46	0.0217	-28	c.107 others(51): Show c.1070+153258_1070+153285delTTATATATATATATATATATAT ATATAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213802395	CTCTATCT others(21): Show CTCTATCTATCTATCTATCTATCTATCTA	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0082 a0006c0006t0001g0082	1	26	0.0385	-28	c.107 others(49): Show c.1071-60065_1071-60038delTCTATCTATCTATCTATCTATCTA TCTA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213871863	CACACACA others(21): Show CACACACACACACACACAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18977.hp2 NA19087.hp2 NA18968.hp2 NA18977.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0061 a0001c0001t0001g0070 a0001c0001t0001g0025 a0001c0001t0001g0061 a0001c0001t0001g0070	3	86	0.0349	-28	c.121 others(47): Show c.1214+9237_1214+9264delCACACACACACACACAGAGAGAGAGA GA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213871865	CACACACA others(21): Show CACACACACACACACAGAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01256.hp2 HG01361.hp2 others(9): Show HG00735.hp2 HG01256.hp2 HG01361.hp2 HG01891.hp2 HG02922.hp1 HG03098.hp2 HG03239.hp1 HG03490.hp1 HG03831.hp2 NA18522.hp1 NA19086.hp2 NA20300.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0002c0002 a0009c0008 a0001c0001 a0002c0002 a0009c0008	a0001c0001t0001 a0002c0002t0002 a0009c0008t0001 a0001c0001t0001 a0002c0002t0002 a0009c0008t0001	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 others(9): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0069 a0002c0002t0002g0074 a0009c0008t0001g0084	12	83	0.1446	-28	c.121 others(47): Show c.1214+9239_1214+9266delCACACACACACACAGAGAGAGAGAGA GA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214125999	TTTCCTTC others(21): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00735.hp2 HG01361.hp1 others(22): Show HG00673.hp2 HG00735.hp2 HG01361.hp1 HG01891.hp2 HG02015.hp1 HG02293.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02922.hp1 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03239.hp2 HG03490.hp1 HG03831.hp1 HG03831.hp2 HG06807.hp2 NA18992.hp2 NA18993.hp2 NA19000.hp1 NA19043.hp1 NA20129.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0006 a0007 a0009	a0001c0001 a0002c0002 a0003c0003 others(4): Show a0001c0001 a0002c0002 a0003c0003 a0005c0005 a0006c0006 a0007c0007 a0009c0008	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0003c0003t0001 a0005c0005t0001 a0006c0006t0001 a0007c0007t0001 a0009c0008t0001	a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0014 others(22): Show a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0041 a0001c0001t0001g0048 a0001c0001t0002g0004 a0002c0002t0001g0051 a0002c0002t0001g0056 a0002c0002t0001g0060 a0002c0002t0001g0063 a0003c0003t0001g0026 a0003c0003t0001g0031 a0003c0003t0001g0043 a0003c0003t0001g0050 a0003c0003t0001g0062 a0003c0003t0001g0080 a0005c0005t0001g0005 a0005c0005t0001g0017 a0006c0006t0001g0024 a0007c0007t0001g0083 a0009c0008t0001g0084	25	72	0.3472	-28	c.159 others(49): Show c.1593+17773_1593+17800delCCTTCCTTCCTTCCTTCCTTCCTT CCTT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214170198	ATATACAC others(21): Show ATATACACACACACTTAGGTGTGTATACG	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01256.hp2 HG01361.hp1 others(8): Show HG00673.hp1 HG01256.hp2 HG01361.hp1 HG01516.hp1 HG01516.hp2 HG01891.hp2 HG02015.hp1 HG03490.hp1 NA18992.hp2 NA19087.hp1 NA19090.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0011	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0007c0007 a0011c0009	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(2): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0007c0007t0001 a0011c0009t0001	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0065 others(8): Show a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0065 a0002c0002t0001g0049 a0002c0002t0001g0056 a0002c0002t0001g0057 a0003c0003t0001g0026 a0003c0003t0001g0034 a0003c0003t0001g0040 a0007c0007t0001g0083 a0011c0009t0001g0085	11	86	0.1279	-28	c.172 others(49): Show c.1720+20960_1720+20987delGTATACACACACACTTAGGTGTGT ATAC	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG1_chr8_100153587_100246904	100170800	CATTTATT others(21): Show CATTTATTTATTTATTTATTTATTTATTT	C C	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0288 a0002c0001t0001g0288	1	67	0.0149	-28	c.300 others(45): Show c.300+4852_300+4879delATTTATTTATTTATTTATTTATTTATTT	SPAG1	ENSG00000104450.13	transcript	ENST00000388798.7	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPAG4_chr20_35610829_35626094	35615424	AAAAGAAA others(21): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	115	0.0087	-28	c.-57 others(37): Show c.-579_-552delAAAGAAAGAAAGAAAGAAAGAAAGAAAG	SPAG4	ENSG00000061656.11	transcript	ENST00000374273.8	protein_coding		404		chr20	TogoVar
SPAG6_chr10_22340496_22422610	22346469	CTTCTTCT others(21): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03540.hp1 HG02723.hp1 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0079 a0002c0002t0001g0080	2	140	0.0143	-28	c.121 others(43): Show c.121+667_121+694delTTCTTCTTCTTCTTTCTTCTTCTTCTTC	SPAG6	ENSG00000077327.16	transcript	ENST00000376624.8	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
SPAG9_chr17_50957174_51125868	51076985	TCTAGCTA others(21): Show TCTAGCTATCTAGCTATCTAGCTAGCTAG	T T	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	288	0.0035	-28	c.424 others(45): Show c.424+2571_424+2598delCTAGCTAGCTAGATAGCTAGATAGCTAG	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	2/29			chr17	TogoVar
SPAST_chr2_32058556_32162637	32110761	ATATAGTA others(21): Show ATATAGTATACATAGTATACTATATATAG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0244 a0001c0001t0006g0244	1	331	0.0030	-28	c.683 others(45): Show c.683-3851_683-3824delTAGTATAGTATACATAGTATACTATATA	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATA16_chr3_172884357_173146235	173028005	CCCTCCCT others(21): Show CCCTCCCTCCCTTCCTTCTTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02818.hp1 HG02922.hp1 others(1): Show HG01109.hp1 HG02818.hp1 HG02922.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0171 a0002c0002t0001g0139 a0002c0002t0001g0140 others(1): Show a0001c0001t0001g0171 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141	4	191	0.0209	-28	c.759 others(45): Show c.759-8458_759-8431delAAGGAAGGAAAGAAGGAAGGGAGGGAGG	SPATA16	ENSG00000144962.7	transcript	ENST00000351008.4	protein_coding	3/10			chr3	TogoVar
SPATA2_chr20_49898391_49920529	49903898	GATAGATA others(21): Show GATAGATATATATATATATATATATATAT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0176 a0001c0004t0010g0176	1	351	0.0028	-28	c.16 others(39): Show c.1693_*1720delATATATATATATATATATATATATCTAT	SPATA2	ENSG00000158480.11	transcript	ENST00000289431.10	protein_coding	3/3	1693		chr20	TogoVar
SPATA5_chr4_122918078_123324433	123007536	ATATATGT others(21): Show ATATATGTGTATGTATGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00642.hp2 others(39): Show HG00323.hp2 HG00408.hp1 HG00642.hp2 HG00733.hp2 HG01123.hp2 HG01361.hp2 HG01433.hp2 HG01515.hp2 HG01517.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02074.hp1 HG02080.hp1 HG02129.hp2 HG02155.hp1 HG02165.hp2 HG02602.hp1 HG02698.hp2 HG03017.hp2 HG03490.hp2 HG03492.hp1 HG03669.hp2 HG04115.hp1 HG04204.hp1 NA18747.hp2 NA18944.hp2 NA18945.hp2 NA18954.hp1 NA18967.hp2 NA18968.hp1 NA18973.hp1 NA19000.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19070.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp2 NA19090.hp1 NA20752.hp1	a0001 a0007 a0008 a0001 a0007 a0008	a0001c0001 a0001c0005 a0007c0011 others(1): Show a0001c0001 a0001c0005 a0007c0011 a0008c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0023 a0001c0001t0024 a0001c0001t0060 a0001c0001t0062 a0001c0001t0064 a0001c0001t0067 a0001c0001t0071 a0001c0001t0072 a0001c0005t0002 a0007c0011t0002 a0008c0010t0002	a0001c0001t0001g0031 a0001c0001t0001g0043 a0001c0001t0001g0088 others(39): Show a0001c0001t0001g0031 a0001c0001t0001g0043 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0002g0016 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0002g0039 a0001c0001t0002g0042 a0001c0001t0002g0045 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0064 a0001c0001t0002g0068 a0001c0001t0002g0090 a0001c0001t0005g0027 a0001c0001t0005g0036 a0001c0001t0023g0028 a0001c0001t0023g0047 a0001c0001t0024g0067 a0001c0001t0024g0069 a0001c0001t0060g0046 a0001c0001t0062g0052 a0001c0001t0064g0063 a0001c0001t0067g0055 a0001c0001t0071g0044 a0001c0001t0072g0019 a0001c0005t0002g0058 a0001c0005t0002g0073 a0001c0005t0002g0074 a0001c0005t0002g0075 a0007c0011t0002g0018 a0008c0010t0002g0035	42	260	0.1615	-28	c.187 others(49): Show c.1870-20640_1870-20613delATGTATGTGTGTGTGTGTGTATAT GTGT	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA5_chr4_122918078_123324433	123007550	ATGTGTGT others(21): Show ATGTGTGTGTGTGTGTATATGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02280.hp1 HG03540.hp1 HG01192.hp2 HG02280.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0051 a0001c0001t0012 a0001c0001t0051	a0001c0001t0012g0241 a0001c0001t0012g0246 a0001c0001t0051g0245 a0001c0001t0012g0241 a0001c0001t0012g0246 a0001c0001t0051g0245	3	232	0.0129	-28	c.187 others(49): Show c.1870-20620_1870-20593delATATGTGTGTGTGTGTGTGTGTGT GTGT	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA5_chr4_122918078_123324433	123007582	GTGTGTGT others(21): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01515.hp1 HG01884.hp2 others(12): Show HG01109.hp1 HG01515.hp1 HG01884.hp2 HG02280.hp2 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02818.hp1 HG03098.hp2 HG03139.hp1 HG03486.hp2 HG03579.hp1 HG03688.hp1 NA19043.hp1 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0003 a0001c0001 a0001c0004 a0003c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0036 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0036 a0001c0001t0037 a0001c0001t0042 a0001c0001t0050 a0001c0001t0074 a0001c0004t0030 a0003c0003t0002 a0003c0003t0022	a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0175 others(12): Show a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0212 a0001c0001t0004g0170 a0001c0001t0036g0153 a0001c0001t0037g0154 a0001c0001t0042g0172 a0001c0001t0050g0174 a0001c0001t0074g0260 a0001c0004t0030g0147 a0003c0003t0002g0015 a0003c0003t0022g0007 a0003c0003t0022g0008	15	255	0.0588	-28	c.187 others(49): Show c.1870-20602_1870-20575delGTGTGTGTGTGTGTGTGTGTGTGT GTAT	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA5_chr4_122918078_123324433	123323086	CATATATA others(21): Show CATATATATATACATATATATACACACAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01884.hp2 HG02630.hp1 others(3): Show HG01109.hp1 HG01884.hp2 HG02630.hp1 HG02717.hp1 HG02818.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0042 a0001c0001t0001 a0001c0001t0004 a0001c0001t0042	a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0175 others(3): Show a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0004g0170 a0001c0001t0042g0172	6	258	0.0233	-28	c.90 others(39): Show c.9023_*9050delATATATATATACATATATATACACACAT	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding		3654		chr4	TogoVar
SPATA5_chr4_122918078_123324433	123323112	CATATATA others(21): Show CATATATATATACATATATATACACACAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0109 a0001c0001t0040g0109	1	256	0.0039	-28	c.90 others(39): Show c.9049_*9076delATATATATATACATATATATACACACAT	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding		3680		chr4	TogoVar
SPATA6L_chr9_4593316_4671480	4656478	AAGGAAGG others(21): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02109.hp2 NA19043.hp1 HG01192.hp1 HG02109.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0015 a0001c0001t0019 a0001c0006t0048 a0001c0001t0015 a0001c0001t0019 a0001c0006t0048	a0001c0001t0015g0140 a0001c0001t0019g0153 a0001c0006t0048g0095 a0001c0001t0015g0140 a0001c0001t0019g0153 a0001c0006t0048g0095	3	406	0.0074	-28	c.178 others(43): Show c.178-417_178-390delCCCTTCCTTCCTTCCTTCCTTCCTTCCT	SPATA6L	ENSG00000106686.18	transcript	ENST00000682582.1	protein_coding	2/11			chr9	TogoVar

Search by Variant

Search

Search Results