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
SHTN1_chr10_116876477_117010187	116946641	ATATATAA others(43): Show ATATATAAAATGATTTATATATAAATATATAAAATGATTTATATATATAA T	A A	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA19087.hp1 NA18999.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0016 a0001c0001t0004g0017 a0001c0001t0004g0016 a0001c0001t0004g0017	2	290	0.0069	-50	c.617 others(67): Show c.617-1673_617-1624delATTATATATATAAATCATTTTATATATT TATATATAAATCATTTTATATA	SHTN1	ENSG00000187164.20	transcript	ENST00000355371.9	protein_coding	7/16			chr10	TogoVar
SIM1_chr6_100380009_100469921	100412587	GAAAGAAA others(43): Show GAAAGAAAGAAAGAAAGAAAGAAAGGAAAGAAAGAAGGAAAGAAAGAAAG A	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01952.hp2 HG00738.hp2 HG01952.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0245 a0002c0002t0007g0246 a0002c0002t0007g0245 a0002c0002t0007g0246	2	313	0.0064	-50	c.116 others(69): Show c.1167+8153_1167+8202delTCTTTCTTTCTTTCCTTCTTTCTTTC CTTTCTTTCTTTCTTTCTTTCTTT	SIM1	ENSG00000112246.10	transcript	ENST00000369208.8	protein_coding	10/11			chr6	TogoVar
SKAP2_chr7_26662068_26869590	26837787	TCACTTCC others(43): Show TCACTTCCTTTTCAGTACAATATCCACCTCTCTAGCCCAGAGTCTTATCA A	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG00597.hp2 others(40): Show HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00621.hp1 HG00738.hp2 HG01358.hp1 HG01516.hp2 HG01978.hp2 HG02027.hp2 HG02071.hp1 HG02074.hp2 HG02083.hp2 HG02129.hp1 HG02135.hp1 HG02165.hp1 HG03491.hp1 HG03669.hp2 HG03831.hp2 NA18612.hp2 NA18747.hp2 NA18945.hp1 NA18947.hp2 NA18953.hp2 NA18957.hp2 NA18960.hp2 NA18964.hp2 NA18973.hp2 NA18980.hp2 NA18982.hp2 NA18987.hp1 NA18993.hp2 NA19003.hp2 NA19005.hp2 NA19010.hp2 NA19012.hp2 NA19057.hp1 NA19058.hp2 NA19066.hp2 NA19068.hp2 NA19085.hp2 NA19088.hp1 NA19089.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 a0001c0001t0001 a0001c0001t0003 a0001c0001t0013	a0001c0001t0001g0017 a0001c0001t0001g0076 a0001c0001t0003g0010 others(40): Show a0001c0001t0001g0017 a0001c0001t0001g0076 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0018 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0040 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0054 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0080 a0001c0001t0003g0097 a0001c0001t0003g0099 a0001c0001t0003g0129 a0001c0001t0003g0133 a0001c0001t0003g0191 a0001c0001t0013g0053	43	294	0.1463	-50	c.307 others(67): Show c.307+6193_307+6242delTTGATAAGACTCTGGGCTAGAGAGGTGG ATATTGTACTGAAAAGGAAGTG	SKAP2	ENSG00000005020.13	transcript	ENST00000345317.7	protein_coding	4/12			chr7	TogoVar
SLBP_chr4_1687731_1717319	1707225	CAAAAAAA others(43): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	C C	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA19012.hp1 NA18983.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	2	3	0.6667	-50	c.177 others(67): Show c.177-3575_177-3526delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTT	SLBP	ENSG00000163950.13	transcript	ENST00000489418.6	protein_coding	2/7			chr4	TogoVar
SLC12A4_chr16_67938474_67973637	67969928	CTGGGGGA others(43): Show CTGGGGGACATCTACCTAGCCTCTGTCCCTACCCTCACTTATCAAATTCC T	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0126 a0002c0003t0002g0126	1	278	0.0036	-50	c.-14 others(61): Show c.-1425_-1376delAGGAATTTGATAAGTGAGGGTAGGGACAGAGGCT AGGTAGATGTCCCCCA	SLC12A4	ENSG00000124067.17	transcript	ENST00000316341.8	protein_coding		1292		chr16	TogoVar
SLC16A9_chr10_59645764_59714850	59681789	TATGTATA others(43): Show TATGTATATGTATATGTATATGTATATATGATGTATATGTATATGTATAT G	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00741.hp1 HG01106.hp1 others(18): Show HG00642.hp2 HG00741.hp1 HG01106.hp1 HG01123.hp2 HG01516.hp1 HG01884.hp2 HG01891.hp2 HG01943.hp1 HG02486.hp2 HG02896.hp1 HG02897.hp2 HG03041.hp1 HG03540.hp2 HG03834.hp2 HG04228.hp1 NA18955.hp2 NA18959.hp2 NA19011.hp2 NA19012.hp2 NA19062.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 others(4): Show a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0026	a0001c0001t0006g0325 a0001c0001t0006g0328 a0001c0001t0006g0329 others(18): Show a0001c0001t0006g0325 a0001c0001t0006g0328 a0001c0001t0006g0329 a0001c0001t0006g0335 a0001c0001t0008g0233 a0001c0001t0008g0245 a0001c0001t0008g0291 a0001c0001t0008g0293 a0001c0001t0008g0294 a0001c0001t0008g0295 a0001c0001t0012g0052 a0001c0001t0012g0059 a0001c0001t0012g0060 a0001c0001t0012g0061 a0001c0001t0012g0062 a0001c0001t0012g0063 a0001c0001t0015g0253 a0001c0001t0016g0047 a0001c0001t0018g0053 a0001c0001t0018g0058 a0001c0001t0026g0321	21	350	0.0600	-50	c.196 others(67): Show c.196+2257_196+2306delCATATACATATACATATACATCATATAT ACATATACATATACATATACAT	SLC16A9	ENSG00000165449.12	transcript	ENST00000395348.8	protein_coding	2/5			chr10	TogoVar
SLC16A9_chr10_59645764_59714850	59696932	TGGGGGGT others(43): Show TGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGAAGGGAGGTG G	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp2 HG02258.hp2 others(4): Show HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02451.hp1 HG02976.hp2 HG06807.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0025 a0001c0009t0002	a0001c0001t0002g0160 a0001c0001t0005g0018 a0001c0001t0010g0127 others(4): Show a0001c0001t0002g0160 a0001c0001t0005g0018 a0001c0001t0010g0127 a0001c0001t0010g0128 a0001c0001t0010g0129 a0001c0001t0025g0318 a0001c0009t0002g0109	7	29	0.2414	-50	c.-37 others(69): Show c.-37+12497_-37+12546delCCACCTCCCTTCTGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCC	SLC16A9	ENSG00000165449.12	transcript	ENST00000395348.8	protein_coding	1/5			chr10	TogoVar
SLC17A5_chr6_73588379_73658992	73649932	ATCTGCCC others(43): Show ATCTGCCCTAGTGTGTAACTTCATAAGCACTGCATGCCTGTGCTCAGGAG T	A A	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	322	0.0031	-50	c.94+ others(65): Show c.94+3811_94+3860delACTCCTGAGCACAGGCATGCAGTGCTTATG AAGTTACACACTAGGGCAGA	SLC17A5	ENSG00000119899.13	transcript	ENST00000355773.6	protein_coding	1/10			chr6	TogoVar
SLC22A12_chr11_64586220_64607344	64595493	AATGGATG others(43): Show AATGGATGGATGGATGGTTGGAATGAATGGATGGATGGATGGTTGGAATG G	A A	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0080 a0001c0003t0003g0080	1	388	0.0026	-50	c.830 others(67): Show c.830+1715_830+1764delAATGGATGGATGGATGGTTGGAATGGAT GGATGGATGGATGGTTGGAATG	SLC22A12	ENSG00000197891.12	transcript	ENST00000377574.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC22A23_chr6_3263973_3462050	3460843	ATTTCTTC others(43): Show ATTTCTTCCTTTCAAATAACTATTTGAAAATTAGGTTACCTTGATTTTGG G	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0209 a0001c0001t0052g0209	1	220	0.0045	-50	c.-43 others(61): Show c.-4334_-4285delCCCAAAATCAAGGTAACCTAATTTTCAAATAGTT ATTTGAAAGGAAGAAA	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding		3794		chr6	TogoVar
SLC25A13_chr7_96115220_96327098	96147054	TCGTATCC others(43): Show TCGTATCCAAATGAGGAGACACAGAACGTATCCAAATGAGGAGACACAGA A	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01934.hp2 HG02055.hp1 others(39): Show HG01884.hp2 HG01934.hp2 HG02055.hp1 HG02074.hp1 HG02135.hp1 HG02258.hp1 HG02258.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02717.hp1 HG02717.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02970.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp1 HG03540.hp2 HG03688.hp2 HG03927.hp2 HG06807.hp1 NA18968.hp2 NA18979.hp2 NA18994.hp2 NA19030.hp1 NA19043.hp2 NA19079.hp1 NA19084.hp2 NA20300.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0004 others(5): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0002c0009 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0003 a0001c0004t0001 a0001c0005t0001 a0001c0007t0001 a0001c0008t0001 a0002c0009t0001 a0003c0006t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(39): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0227 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0002g0149 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0266 a0001c0003t0001g0131 a0001c0003t0003g0133 a0001c0003t0003g0134 a0001c0004t0001g0006 a0001c0004t0001g0217 a0001c0004t0001g0256 a0001c0005t0001g0274 a0001c0005t0001g0275 a0001c0005t0001g0276 a0001c0007t0001g0130 a0001c0008t0001g0021 a0002c0009t0001g0020 a0003c0006t0001g0012	42	142	0.2958	-50	c.131 others(67): Show c.1312-408_1312-359delTTCTGTGTCTCCTCATTTGGATACGTTC TGTGTCTCCTCATTTGGATACG	SLC25A13	ENSG00000004864.14	transcript	ENST00000265631.10	protein_coding	13/17			chr7	TogoVar
SLC2A13_chr12_39750025_40111081	39895931	TGTGTATA others(43): Show TGTGTATATATACATGCGTATATGTGTATATATACATGTGTATATGTATA C	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01928.hp1 HG01981.hp2 others(3): Show HG01109.hp2 HG01928.hp1 HG01981.hp2 NA18973.hp2 NA18985.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0077 a0001c0001t0001g0078 others(3): Show a0001c0001t0001g0053 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0102	6	212	0.0283	-50	c.103 others(71): Show c.1035-24020_1035-23971delGTATACATATACACATGTATATAT ACACATATACGCATGTATATATACAC	SLC2A13	ENSG00000151229.13	transcript	ENST00000280871.9	protein_coding	4/9			chr12	TogoVar
SLC38A9_chr5_55620848_55717324	55696532	CCCACCTC others(43): Show CCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC T	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0001 a0002c0013t0001	a0002c0013t0001g0247 a0002c0013t0001g0247	1	348	0.0029	-50	c.113 others(67): Show c.113+1264_113+1313delAGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCCGTCTGGGAGGGAGGTGG	SLC38A9	ENSG00000177058.12	transcript	ENST00000396865.7	protein_coding	3/15			chr5	TogoVar
SLC43A3_chr11_57401954_57432121	57403464	AGAAGAAG others(43): Show AGAAGAAGAAGAAGAGGAAGAAGAGGAAGAAGAGGAAGAAGAAAAGAAGA G	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	326	0.0031	-50	c.42 others(61): Show c.4278_*4327delCTCTTCTTTTCTTCTTCCTCTTCTTCCTCTTCTT CCTCTTCTTCTTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3489		chr11	TogoVar
SLC43A3_chr11_57401954_57432121	57403473	AGAAGAGG others(43): Show AGAAGAGGAAGAAGAGGAAGAAGAGGAAGAAGAAAAGAAGAGGAAGAAGA G	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG03491.hp2 NA18983.hp1 others(1): Show HG02723.hp2 HG03491.hp2 NA18983.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0020 a0001c0001t0001 a0001c0001t0020	a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0140 others(1): Show a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0140 a0001c0001t0020g0195	4	313	0.0128	-50	c.42 others(61): Show c.4269_*4318delCTCTTCTTCCTCTTCTTTTCTTCTTCCTCTTCTT CCTCTTCTTCCTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3480		chr11	TogoVar
SLC5A4_chr22_32213464_32260347	32239548	ATATATAT others(43): Show ATATATATATATATATATATATTTATATATATATTTATATATATATAAAT T	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02809.hp1 HG02896.hp2 others(1): Show HG02647.hp1 HG02809.hp1 HG02896.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 others(1): Show a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0203	4	300	0.0133	-50	c.478 others(65): Show c.478-508_478-459delAATTTATATATATATAAATATATATATAAA TATATATATATATATATATA	SLC5A4	ENSG00000100191.6	transcript	ENST00000266086.6	protein_coding	5/14			chr22	TogoVar
SLC5A8_chr12_101150493_101215238	101211118	CATTTAGT others(43): Show CATTTAGTCTAGCCTAGTGTATGATAAAAAAGCTATATCAGATTTTATTT T	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0030 a0001c0001t0015g0030	1	374	0.0027	-50	c.-13 others(61): Show c.-1320_-1271delAAAATAAAATCTGATATAGCTTTTTTATCATACA CTAGGCTAGACTAAAT	SLC5A8	ENSG00000256870.3	transcript	ENST00000536262.3	protein_coding		881		chr12	TogoVar
SLC6A16_chr19_49284638_49330191	49321657	ACCTGGGA others(43): Show ACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCATACCACTGCACTCCA G	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0292 a0003c0009t0001g0292	1	336	0.0030	-50	c.-65 others(67): Show c.-65+3341_-65+3390delCTGGAGTGCAGTGGTATGATCTTGGCTC ACTGCAACCTCTGCCTCCCAGG	SLC6A16	ENSG00000063127.16	transcript	ENST00000335875.9	protein_coding	1/11			chr19	TogoVar
SLC6A4_chr17_30189319_30240697	30221446	GGGTCACA others(43): Show GGGTCACAGCCCACCCCAGGTCACAGCCCACCCGGGTCACAGCCCATCCC A	G G	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0133 a0001c0001t0002g0133	1	284	0.0035	-50	c.343 others(65): Show c.343+120_343+169delTGGGATGGGCTGTGACCCGGGTGGGCTGTG ACCTGGGGTGGGCTGTGACC	SLC6A4	ENSG00000108576.10	transcript	ENST00000650711.1	protein_coding	3/14			chr17	TogoVar
SLC8A3_chr14_70039215_70193951	70192014	TTATTAAT others(43): Show TTATTAATAATAATAATAATTATTATTATTATTATTAATTATTATTATTA A	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00597.hp2 others(11): Show HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp2 HG02080.hp1 HG03239.hp1 NA18612.hp1 NA18944.hp1 NA18960.hp2 NA18962.hp2 NA18973.hp1 NA18993.hp2 NA18995.hp2 NA19005.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0009c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0002t0001 a0001c0003t0001 a0009c0010t0001	a0001c0001t0001g0049 a0001c0001t0001g0200 a0001c0001t0001g0205 others(11): Show a0001c0001t0001g0049 a0001c0001t0001g0200 a0001c0001t0001g0205 a0001c0001t0002g0152 a0001c0001t0002g0182 a0001c0001t0002g0202 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0007g0197 a0001c0001t0007g0240 a0001c0002t0001g0177 a0001c0003t0001g0220 a0009c0010t0001g0178	14	264	0.0530	-50	c.-37 others(61): Show c.-3748_-3699delTTAATAATAATAATTAATAATAATAATAATAATT ATTATTATTATTAATA	SLC8A3	ENSG00000100678.20	transcript	ENST00000356921.7	protein_coding		3064		chr14	TogoVar
SLC9A6_chrX_135980435_136052269	136023163	GTATATAT others(43): Show GTATATATATATATATATATATATATATATATATATATATATATATATAT A	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	27	0.0370	-50	c.130 others(67): Show c.1306+477_1306+526delTATATATATATATATATATATATATATA TATATATATATATATATATATA	SLC9A6	ENSG00000198689.13	transcript	ENST00000630721.3	protein_coding	12/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
SLIT3_chr5_168656740_169306139	168726470	GGGAGGGA others(43): Show GGGAGGGAGGAAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGAGGGAGG C	G G	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	132	0.0076	-50	c.227 others(69): Show c.2271-2036_2271-1987delGCCTCCCTCTCCCTCCCTGCCTCCCT CTCCCTCCCTCCCTTCCTCCCTCC	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	20/35			chr5	TogoVar
SMAP2_chr1_40368727_40428322	40388458	CGACACTC others(43): Show CGACACTCTGTATCTAGCTACTCTGGTGGGGACTTGGAGAACCTTTGTGT G	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	398	0.0025	-50	c.103 others(69): Show c.103+14259_103+14308delGGTGGGGACTTGGAGAACCTTTGTGT GGACACTCTGTATCTAGCTACTCT	SMAP2	ENSG00000084070.12	transcript	ENST00000372718.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SMIM2_chr13_44138150_44166257	44142132	CCTCGGCT others(43): Show CCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCG G	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG02145.hp2 HG02602.hp1 others(9): Show HG01928.hp2 HG02145.hp2 HG02602.hp1 HG02622.hp1 HG02735.hp1 HG02735.hp2 HG02976.hp2 HG03654.hp1 HG03704.hp1 NA18961.hp1 NA18991.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0003 a0001c0001t0001g0035 a0001c0001t0001g0038 others(8): Show a0001c0001t0001g0003 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0050 a0001c0001t0001g0132 a0001c0001t0002g0010 a0001c0001t0002g0128 a0001c0001t0003g0006 a0001c0001t0003g0021 a0001c0001t0003g0039	12	13	0.9231	-50	c.17 others(61): Show c.1736_*1785delCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGA GCCGAGCCGAGCCGAG	SMIM2	ENSG00000139656.8	transcript	ENST00000400419.2	protein_coding		1017		chr13	TogoVar
SMOC2_chr6_168436184_168672992	168560622	GCATTCTT others(43): Show GCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCA C	G G	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18990.hp2 HG00609.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0158 a0001c0001t0001g0143 a0001c0001t0001g0158	2	177	0.0113	-50	c.637 others(69): Show c.637+11420_637+11469delCATTCTTGGAGGAGGTGTCATTTTCA TACCCTGAGACACGAGGCTCTCAC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560882	GCATTCTT others(43): Show GCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCA C	G G	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	178	0.0056	-50	c.637 others(69): Show c.637+11680_637+11729delCATTCTTGGAGGAGGTGTCATTTTCA TACCCTGAGACACGAGGCTCTCAC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561974	GCATTCTT others(43): Show GCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACAAGGCTCTCA C	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02109.hp1 HG02129.hp1 others(7): Show HG01243.hp1 HG02109.hp1 HG02129.hp1 HG02135.hp1 HG02738.hp2 HG03490.hp1 NA18941.hp2 NA18963.hp1 NA19000.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0013	a0001c0001t0001 a0001c0002t0002 a0001c0002t0008 others(3): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0008 a0001c0003t0001 a0001c0004t0005 a0001c0013t0002	a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0002t0002g0021 others(7): Show a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0002t0002g0021 a0001c0002t0002g0055 a0001c0002t0002g0065 a0001c0002t0002g0180 a0001c0002t0008g0047 a0001c0003t0001g0155 a0001c0004t0005g0051 a0001c0013t0002g0033	10	177	0.0565	-50	c.637 others(69): Show c.637+12772_637+12821delCATTCTTGGAGGAGGTGTCATTTTCA TACCCTGAGACACAAGGCTCTCAC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
SMURF1_chr7_99022440_99149108	99063237	TTATTTAT others(43): Show TTATTTATATATATATATATATATATATATATATATATATATATATATAT A	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02896.hp2 HG03471.hp2 others(2): Show HG02809.hp1 HG02896.hp2 HG03471.hp2 NA18522.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0015 a0001c0001t0026 a0001c0001t0003 a0001c0001t0015 a0001c0001t0026	a0001c0001t0003g0013 a0001c0001t0003g0116 a0001c0001t0003g0167 others(2): Show a0001c0001t0003g0013 a0001c0001t0003g0116 a0001c0001t0003g0167 a0001c0001t0015g0213 a0001c0001t0026g0017	5	170	0.0294	-50	c.56- others(65): Show c.56-1450_56-1401delTATATATATATATATATATATATATATATA TATATATATATATATAAATA	SMURF1	ENSG00000198742.10	transcript	ENST00000361368.7	protein_coding	1/17			chr7	TogoVar
SMYD1_chr2_88062825_88118384	88065222	CCCCCTCC others(43): Show CCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCC T	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02572.hp1 HG02647.hp1 others(4): Show HG02280.hp2 HG02572.hp1 HG02647.hp1 HG02647.hp2 HG03209.hp2 HG03491.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0014 a0002c0006 others(1): Show a0001c0003 a0001c0014 a0002c0006 a0002c0010	a0001c0003t0004 a0001c0014t0006 a0002c0006t0001 others(1): Show a0001c0003t0004 a0001c0014t0006 a0002c0006t0001 a0002c0010t0002	a0001c0003t0004g0286 a0001c0014t0006g0027 a0001c0014t0006g0290 others(3): Show a0001c0003t0004g0286 a0001c0014t0006g0027 a0001c0014t0006g0290 a0002c0006t0001g0295 a0002c0006t0001g0296 a0002c0010t0002g0287	7	290	0.0241	-50	c.-26 others(61): Show c.-2642_-2593delCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCC CCCCCTCCCCTCCCCT	SMYD1	ENSG00000115593.15	transcript	ENST00000419482.7	protein_coding		2602		chr2	TogoVar
SMYD3_chr1_245744347_246512279	246484285	GCACTAGT others(43): Show GCACTAGTTACACCTAAAAACACATCACTTCAACCAAAATACCTAAACCA C	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	148	0.0068	-50	c.164 others(69): Show c.164+22719_164+22768delGTGGTTTAGGTATTTTGGTTGAAGTG ATGTGTTTTTAGGTGTAACTAGTG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SNPH_chr20_1261294_1314327	1278046	CTGTGTGT others(43): Show CTGTGTGTGTGTGTCTGTGTGTGTATCTGTGTGTGTCTCTGTGTGTGCCT A	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02559.hp1 HG02572.hp2 others(2): Show HG02258.hp1 HG02559.hp1 HG02572.hp2 HG02622.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0001t0041 a0001c0002t0005 others(2): Show a0001c0001t0011 a0001c0001t0041 a0001c0002t0005 a0001c0002t0016 a0001c0002t0040	a0001c0001t0011g0034 a0001c0001t0041g0036 a0001c0002t0005g0039 others(2): Show a0001c0001t0011g0034 a0001c0001t0041g0036 a0001c0002t0005g0039 a0001c0002t0016g0037 a0001c0002t0040g0035	5	347	0.0144	-50	c.-49 others(71): Show c.-493+11296_-493+11345delGTGTCTGTGTGTGTATCTGTGTGT GTCTCTGTGTGTGCCTATGTGTGTGT	SNPH	ENSG00000101298.15	transcript	ENST00000381867.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
SNTG1_chr8_49906407_50801692	50734800	TATATATA others(43): Show TATATATAGATATCTATATATATGGACATATATATATCTATATATATGGA C	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00741.hp2 others(17): Show HG00280.hp1 HG00280.hp2 HG00741.hp2 HG02451.hp1 HG02647.hp1 HG02698.hp1 HG02896.hp1 HG03041.hp1 HG03139.hp1 HG03225.hp2 HG03669.hp2 HG04115.hp1 HG04184.hp1 HG06807.hp1 NA18944.hp2 NA18952.hp1 NA18968.hp1 NA18992.hp2 NA19068.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 others(6): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0022 a0001c0001t0026 a0001c0001t0040 a0001c0001t0046	a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0002g0017 others(17): Show a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0002g0017 a0001c0001t0002g0026 a0001c0001t0002g0033 a0001c0001t0002g0042 a0001c0001t0002g0068 a0001c0001t0004g0078 a0001c0001t0004g0079 a0001c0001t0004g0088 a0001c0001t0004g0094 a0001c0001t0009g0085 a0001c0001t0011g0097 a0001c0001t0011g0099 a0001c0001t0012g0049 a0001c0001t0012g0063 a0001c0001t0022g0004 a0001c0001t0026g0095 a0001c0001t0040g0005 a0001c0001t0046g0104	20	99	0.2020	-50	c.128 others(71): Show c.1285-17193_1285-17144delGATATCTATATATATGGACATATA TATATCTATATATATGGACATATATA	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG2_chr2_945849_1372613	1005806	AATATATA others(43): Show AATATATATATATATATATATATATATATATATATATATATATATATATA T	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00735.hp2 others(52): Show HG00099.hp1 HG00140.hp2 HG00735.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01257.hp1 HG01257.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01975.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02572.hp1 HG02630.hp1 HG02647.hp2 HG02683.hp2 HG02735.hp1 HG02895.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03831.hp1 HG03927.hp1 HG04115.hp2 NA18522.hp2 NA18969.hp2 NA19000.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp2	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0010 a0011 a0014 a0017 a0018 a0020	a0001c0001 a0001c0002 a0002c0003 others(15): Show a0001c0001 a0001c0002 a0002c0003 a0003c0007 a0003c0008 a0003c0026 a0004c0004 a0004c0014 a0005c0006 a0006c0010 a0006c0028 a0008c0031 a0010c0013 a0011c0020 a0014c0032 a0017c0036 a0018c0035 a0020c0021	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(18): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0002c0003t0001 a0003c0007t0001 a0003c0008t0001 a0003c0026t0001 a0004c0004t0001 a0004c0014t0001 a0004c0014t0002 a0005c0006t0002 a0006c0010t0001 a0006c0028t0001 a0008c0031t0001 a0010c0013t0001 a0011c0020t0001 a0014c0032t0001 a0017c0036t0001 a0018c0035t0001 a0020c0021t0001	a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 others(52): Show a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0144 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0002t0001g0041 a0001c0002t0001g0069 a0001c0002t0001g0113 a0001c0002t0001g0118 a0001c0002t0001g0120 a0001c0002t0001g0137 a0001c0002t0001g0141 a0001c0002t0002g0002 a0001c0002t0004g0051 a0002c0003t0001g0015 a0002c0003t0001g0052 a0002c0003t0001g0053 a0002c0003t0001g0055 a0002c0003t0001g0064 a0002c0003t0001g0108 a0002c0003t0001g0109 a0002c0003t0001g0148 a0002c0003t0001g0154 a0002c0003t0001g0183 a0003c0007t0001g0060 a0003c0007t0001g0080 a0003c0008t0001g0059 a0003c0008t0001g0105 a0003c0008t0001g0190 a0003c0026t0001g0097 a0004c0004t0001g0065 a0004c0004t0001g0124 a0004c0004t0001g0150 a0004c0004t0001g0151 a0004c0004t0001g0180 a0004c0004t0001g0181 a0004c0014t0001g0054 a0004c0014t0002g0001 a0005c0006t0002g0003 a0006c0010t0001g0043 a0006c0028t0001g0127 a0008c0031t0001g0117 a0010c0013t0001g0042 a0010c0013t0001g0140 a0011c0020t0001g0110 a0011c0020t0001g0115 a0014c0032t0001g0062 a0017c0036t0001g0070 a0018c0035t0001g0071 a0020c0021t0001g0119	55	65	0.8462	-50	c.72+ others(67): Show c.72+54758_72+54807delTATATATATATATATATATATATATATA TATATATATATATATATATATA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1255845	TATATATA others(43): Show TATATATAAATATATATAAATATATATAAATATATATATAAATATATATA A	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0043 a0006c0010t0001g0043	1	188	0.0053	-50	c.100 others(69): Show c.1006-3517_1006-3468delAATATATATAAATATATATAAATATA TATATAAATATATATAAATATATA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX16_chr8_81794583_81847185	81842534	GAAAACGA others(43): Show GAAAACGAGCGAGGGAGAGAGCGAGAGCGAGAGAGAGAGAGAGAGAGCGT C	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp1 NA20905.hp1 NA19091.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0174 a0001c0001t0002g0217 a0001c0001t0002g0174 a0001c0001t0002g0217	2	299	0.0067	-50	c.-55 others(59): Show c.-559_-510delGACGCTCTCTCTCTCTCTCTCTCGCTCTCGCTCTCT CCCTCGCTCGTTTT	SNX16	ENSG00000104497.15	transcript	ENST00000345957.9	protein_coding		350		chr8	TogoVar
SNX25_chr4_185204598_185368966	185224521	ATATATAC others(43): Show ATATATACATATATATAAATATATATACATATATATAAATATATATAAGT G	A A	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	274	0.0036	-50	c.429 others(69): Show c.429+14273_429+14322delCATATATATAAATATATATACATATA TATAAATATATATAAGTGTATATA	SNX25	ENSG00000109762.17	transcript	ENST00000652585.2	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
SNX27_chr1_151607050_151704080	151651319	GGGCGGGG others(43): Show GGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCC T	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0106 a0001c0001t0016g0106	1	364	0.0027	-50	c.544 others(67): Show c.544-6880_544-6831delTGGGGCGGCTGGCCTGGCGGGGGGCTGA CCCCCCCCACCTCCCTCCCGGA	SNX27	ENSG00000143376.14	transcript	ENST00000458013.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SNX4_chr3_125441650_125525202	125458831	AAAAAAAA others(43): Show AAAAAAAAAAAAAAAGAAAAGAAAAGATTCTAATACAGCAATGCACAAAG T	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00735.hp2 HG01891.hp2 others(25): Show HG00733.hp1 HG00735.hp2 HG01891.hp2 HG02257.hp2 HG02300.hp2 HG02486.hp2 HG02559.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02895.hp1 HG02965.hp2 HG03139.hp2 HG03209.hp2 HG03669.hp1 HG04228.hp1 NA18522.hp1 NA18906.hp2 NA18950.hp1 NA18963.hp1 NA18966.hp2 NA18992.hp1 NA19002.hp2 NA19004.hp2 NA19064.hp1 NA19088.hp2 NA19240.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(25): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0132 a0001c0001t0001g0226 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0353	28	358	0.0782	-50	c.945 others(67): Show c.945-1516_945-1467delACTTTGTGCATTGCTGTATTAGAATCTT TTCTTTTCTTTTTTTTTTTTTT	SNX4	ENSG00000114520.11	transcript	ENST00000251775.9	protein_coding	10/13			chr3	TogoVar
SNX8_chr7_2246770_2319441	2268135	TGGCCAGC others(43): Show TGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGCGTCAGCCCTCCGCC C	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01069.hp2 HG03831.hp1 others(2): Show HG00735.hp2 HG01069.hp2 HG03831.hp1 HG04115.hp2 HG04199.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0013 a0001c0006t0039 a0001c0006t0013 a0001c0006t0039	a0001c0006t0013g0192 a0001c0006t0013g0231 a0001c0006t0013g0232 others(2): Show a0001c0006t0013g0192 a0001c0006t0013g0231 a0001c0006t0013g0232 a0001c0006t0013g0274 a0001c0006t0039g0144	5	367	0.0136	-50	c.621 others(67): Show c.621+1374_621+1423delGGGCGGAGGGCTGACGCCCCCCACCTCC CTCCCGGATGGGGCGGCTGGCC	SNX8	ENSG00000106266.11	transcript	ENST00000222990.8	protein_coding	5/10			chr7	TogoVar
SNX8_chr7_2246770_2319441	2268853	TGGGGGGG others(43): Show TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT G	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03225.hp1 HG03516.hp1 HG03098.hp1 HG03225.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0085 a0001c0001t0002g0132 a0001c0001t0008g0160 a0001c0001t0002g0085 a0001c0001t0002g0132 a0001c0001t0008g0160	3	241	0.0124	-50	c.621 others(65): Show c.621+656_621+705delCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCC	SNX8	ENSG00000106266.11	transcript	ENST00000222990.8	protein_coding	5/10			chr7	TogoVar
SOD1_chr21_31654693_31673931	31658035	GGGCCCAG others(43): Show GGGCCCAGTAAAGCATGGGGCCTGGGGCCAGGGACCCCCTTGTTCAGGTG T	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(25): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG01071.hp1 HG01081.hp2 HG01123.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01928.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02015.hp2 HG02027.hp1 HG02145.hp1 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02630.hp1 HG02630.hp2 HG02735.hp1 HG03654.hp2 HG03710.hp1 HG03831.hp1 HG04228.hp2 NA19056.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0026 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0047 a0001c0001t0001g0063 a0001c0001t0001g0075	28	424	0.0660	-50	c.-17 others(61): Show c.-1734_-1685delGGCCCAGTAAAGCATGGGGCCTGGGGCCAGGGAC CCCCTTGTTCAGGTGT	SOD1	ENSG00000142168.15	transcript	ENST00000270142.11	protein_coding		1657		chr21	TogoVar
SON_chr21_33538038_33582481	33577604	TACACACA others(43): Show TACACACACACACACACACACACACACACACACACACACACACACACACA C	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG02735.hp2 others(3): Show HG01168.hp1 HG01169.hp1 HG02735.hp2 HG04115.hp2 NA18959.hp1 NA19068.hp1	a0002 a0003 a0007 a0002 a0003 a0007	a0002c0003 a0003c0004 a0007c0008 a0002c0003 a0003c0004 a0007c0008	a0002c0003t0001 a0003c0004t0001 a0007c0008t0001 a0002c0003t0001 a0003c0004t0001 a0007c0008t0001	a0002c0003t0001g0003 a0003c0004t0001g0020 a0003c0004t0001g0186 others(3): Show a0002c0003t0001g0003 a0003c0004t0001g0020 a0003c0004t0001g0186 a0003c0004t0001g0192 a0003c0004t0001g0202 a0007c0008t0001g0065	6	64	0.0938	-50	c.11 others(61): Show c.1181_*1230delACACACACACACACACACACACACACACACACAC ACACACACACACACAC	SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding		124		chr21	TogoVar
SORBS2_chr4_185580523_185817194	185731493	TCTCTCTC others(43): Show TCTCTCTCCCTCCCTCCCTGCCTATCTCTCTCCCCCTCCCTCTCTCCCTG C	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0008 a0008	a0008c0036 a0008c0036	a0008c0036t0070 a0008c0036t0070	a0008c0036t0070g0218 a0008c0036t0070g0218	1	306	0.0033	-50	c.-41 others(67): Show c.-41+2556_-41+2605delGCAGGGAGAGAGGGAGGGGGAGAGAGAT AGGCAGGGAGGGAGGGAGAGAG	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	3/26			chr4	TogoVar
SORBS2_chr4_185580523_185817194	185796840	GGGCTGGG others(43): Show GGGCTGGGCATGCCTGGGCTCTGTGGCCACGCTGTTCCCTGGTCACGGTG A	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG00735.hp2 others(20): Show HG00639.hp1 HG00642.hp1 HG00735.hp2 HG01099.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01255.hp2 HG01346.hp2 HG01361.hp1 HG01515.hp1 HG01517.hp2 HG01934.hp2 HG02723.hp2 HG03516.hp1 HG03579.hp2 HG03942.hp2 HG04115.hp2 NA18952.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0001c0022 a0001c0023 a0001c0025	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0019 a0001c0001t0026 a0001c0001t0039 a0001c0001t0061 a0001c0002t0002 a0001c0003t0001 a0001c0009t0001 a0001c0022t0007 a0001c0023t0043 a0001c0025t0063	a0001c0001t0001g0023 a0001c0001t0001g0160 a0001c0001t0001g0163 others(20): Show a0001c0001t0001g0023 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0002g0014 a0001c0001t0002g0301 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0009g0196 a0001c0001t0011g0202 a0001c0001t0011g0297 a0001c0001t0011g0307 a0001c0001t0012g0299 a0001c0001t0012g0300 a0001c0001t0019g0302 a0001c0001t0026g0015 a0001c0001t0039g0009 a0001c0001t0061g0179 a0001c0002t0002g0131 a0001c0003t0001g0278 a0001c0009t0001g0221 a0001c0022t0007g0193 a0001c0023t0043g0005 a0001c0025t0063g0213	23	310	0.0742	-50	c.-23 others(71): Show c.-237+14774_-237+14823delTCACCGTGACCAGGGAACAGCGTG GCCACAGAGCCCAGGCATGCCCAGCC	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	1/26			chr4	TogoVar
SOX5_chr12_23524504_23954670	23837257	TTATATAA others(43): Show TTATATAATATATAATATGTATTTATATTTATATTTATATAATATATAAG A	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01069.hp2 HG01071.hp2 others(8): Show HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01175.hp2 HG01261.hp2 HG01517.hp2 HG01934.hp2 HG02976.hp2 HG03239.hp2 HG04204.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0015 a0001c0001t0021 a0001c0001t0032 others(8): Show a0001c0001t0015 a0001c0001t0021 a0001c0001t0032 a0001c0001t0039 a0001c0001t0055 a0001c0001t0056 a0001c0001t0061 a0001c0001t0063 a0001c0001t0070 a0001c0001t0092 a0001c0002t0006	a0001c0001t0015g0091 a0001c0001t0021g0139 a0001c0001t0032g0141 others(8): Show a0001c0001t0015g0091 a0001c0001t0021g0139 a0001c0001t0032g0141 a0001c0001t0039g0004 a0001c0001t0055g0135 a0001c0001t0056g0142 a0001c0001t0061g0136 a0001c0001t0063g0140 a0001c0001t0070g0137 a0001c0001t0092g0152 a0001c0002t0006g0019	11	204	0.0539	-50	c.481 others(67): Show c.481+8676_481+8725delTCTTATATATTATATAAATATAAATATA AATACATATTATATATTATATA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SP100_chr2_230411201_230550606	230497524	GAGGAGAG others(43): Show GAGGAGAGGAGAGGAGAGGAGAGGAAAGGAAAGGAAAGGAAAGGAAAGGA A	G G	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0002 a0005c0008t0002	a0005c0008t0002g0123 a0005c0008t0002g0123	1	278	0.0036	-50	c.164 others(67): Show c.1646-932_1646-883delGAGGAGAGGAGAGGAGAGGAAAGGAAAG GAAAGGAAAGGAAAGGAAAGGA	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	18/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230497534	GAGGAGAG others(43): Show GAGGAGAGGAGAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGA A	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	197	0.0051	-50	c.164 others(67): Show c.1646-922_1646-873delGAGGAGAGGAAAGGAAAGGAAAGGAAAG GAAAGGAAAGGAAAGGAAAGGA	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	18/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPACA7_chr13_112371355_112439689	112382885	AGGCTGAG others(43): Show AGGCTGAGGCAGGAGAATCAGTTGAACCTGGGAGGCAGCAGTTGCAGTAA G	A A	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	390	0.0026	-50	c.94+ others(65): Show c.94+6407_94+6456delGGCTGAGGCAGGAGAATCAGTTGAACCTGG GAGGCAGCAGTTGCAGTAAG	SPACA7	ENSG00000153498.12	transcript	ENST00000283550.8	protein_coding	1/6			chr13	TogoVar
SPAG16_chr2_213279464_214415501	213468484	TATATATG others(43): Show TATATATGTATTTATATATAGATATATATATATCTATGTATTTATATATA G	T T	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02559.hp1 HG02717.hp2 others(6): Show HG02293.hp1 HG02559.hp1 HG02717.hp2 HG02895.hp1 HG02976.hp1 HG03098.hp1 HG03195.hp2 HG06807.hp1 NA20129.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0008	a0001c0001 a0002c0002 a0005c0005 others(1): Show a0001c0001 a0002c0002 a0005c0005 a0008c0010	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0005c0005t0001 a0008c0010t0001	a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0002g0004 others(6): Show a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0002g0004 a0001c0001t0002g0008 a0002c0002t0001g0001 a0002c0002t0001g0010 a0002c0002t0001g0011 a0005c0005t0001g0005 a0008c0010t0001g0002	9	86	0.1047	-50	c.943 others(69): Show c.943-21472_943-21423delGTATTTATATATAGATATATATATAT CTATGTATTTATATATAGATATAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATA5_chr4_122918078_123324433	123015814	ACCCCCCC others(43): Show ACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGA C	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00733.hp1 HG01071.hp2 others(16): Show HG00099.hp2 HG00733.hp1 HG01071.hp2 HG01109.hp1 HG01175.hp1 HG01256.hp1 HG01258.hp2 HG01516.hp2 HG01884.hp2 HG02602.hp2 HG02630.hp1 HG02698.hp1 HG02717.hp1 HG02818.hp1 HG02976.hp2 HG03471.hp2 HG03486.hp2 HG04204.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0026 a0001c0001t0042 a0001c0001t0050	a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 others(16): Show a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0003g0097 a0001c0001t0003g0101 a0001c0001t0004g0102 a0001c0001t0004g0170 a0001c0001t0004g0239 a0001c0001t0006g0240 a0001c0001t0026g0106 a0001c0001t0042g0172 a0001c0001t0050g0174	19	260	0.0731	-50	c.187 others(71): Show c.1870-12365_1870-12316delCACCTCCCTCCCGGATGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCC	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr4	TogoVar

Search by Variant

Search

Search Results