Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

Show

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
RORA_chr15_60483284_61234302	60597552	ATATATAT others(62): Show ATATATATATATATATATATATACACATATATATATATATATACACATAT ATATATATATATATATACAT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0017 a0001c0002t0003g0017	1	118	0.0085	-69	c.197 others(88): Show c.197-65770_197-65702delATGTATATATATATATATATATATGT GTATATATATATATATATGTGTATATATATATATATATATATA		RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	2/10						chr15	TogoVar
RP1L1_chr8_10601349_10660143	10608455	TCCTTCTG others(62): Show TCCTTCTGCCTCTGGGGCCTCTACATCTTCTGACTCTGGCTGGGCCTCCC CTTCAGCCTCCTGGGCATCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02602.hp1 HG03688.hp1 HG03831.hp2 HG02602.hp1 HG03688.hp1 HG03831.hp2	a0028 a0028	a0028c0025 a0028c0025	a0028c0025t0004 a0028c0025t0008 a0028c0025t0004 a0028c0025t0008	a0028c0025t0004g0162 a0028c0025t0004g0163 a0028c0025t0008g0288 a0028c0025t0004g0162 a0028c0025t0004g0163 a0028c0025t0008g0288	3	414	0.0073	-69	c.557 others(78): Show c.5574_5642delGGATGCCCAGGAGGCTGAAGGGGAGGCCCAGCCAGA GTCAGAAGATGTAGAGGCCCCAGAGGCAGAAGG	p.Asp others(15): Show p.Asp1859_Gly1881del	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	5907/8014	5574/7203	1858/2400			chr8	TogoVar
RPH3AL_chr17_207389_357807	303477	CAGGGAGG others(62): Show CAGGGAGGAAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGT GTTTCAGGAAAGAGATGGGG	C C	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18983.hp2 NA20905.hp1 NA18947.hp1 NA18983.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0015 a0001c0001t0025 a0001c0001t0014 a0001c0001t0015 a0001c0001t0025	a0001c0001t0014g0025 a0001c0001t0015g0041 a0001c0001t0025g0076 a0001c0001t0014g0025 a0001c0001t0015g0041 a0001c0001t0025g0076	3	133	0.0226	-69	c.351 others(88): Show c.351+15874_351+15942delCCCCATCTCTTTCCTGAAACACGGTC ACTGCTCAATAATTATTAAAACCTCAGTACAGCCTTCCTCCCT		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	304098	GAGGGAGG others(62): Show GAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGT GTCTCAGGAAAGAGTGGGGC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02071.hp1 HG02559.hp2 others(4): Show HG00099.hp2 HG02071.hp1 HG02559.hp2 HG02723.hp1 HG03540.hp1 NA18993.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0001t0006 a0001c0001t0012 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0012 a0001c0001t0027 a0001c0002t0007 a0001c0003t0001 a0001c0006t0004	a0001c0001t0001g0114 a0001c0001t0006g0072 a0001c0001t0012g0005 others(4): Show a0001c0001t0001g0114 a0001c0001t0006g0072 a0001c0001t0012g0005 a0001c0001t0027g0118 a0001c0002t0007g0112 a0001c0003t0001g0068 a0001c0006t0004g0022	7	133	0.0526	-69	c.351 others(88): Show c.351+15253_351+15321delGCCCCACTCTTTCCTGAGACACGGTC ACTGCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCT		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9						chr17	TogoVar
RTP5_chr2_241864729_241878823	241866277	CGGGATGC others(62): Show CGGGATGCTGAGCTGCGCGGGATGCTGAGCTGCGGGGGGATGCTGAGCTG CGGGGGATGCTGAGCTGCGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02809.hp2 HG01884.hp2 HG02809.hp2	a0013 a0013	a0013c0012 a0013c0012	a0013c0012t0013 a0013c0012t0013	a0013c0012t0013g0013 a0013c0012t0013g0030 a0013c0012t0013g0013 a0013c0012t0013g0030	2	365	0.0055	-69	c.-34 others(80): Show c.-3479_-3411delGGGATGCTGAGCTGCGCGGGATGCTGAGCTGCGG GGGGATGCTGAGCTGCGGGGGATGCTGAGCTGCGG		RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding					3451		chr2	TogoVar
RUNX1_chr21_34782801_35054302	34926487	ACAGCACA others(62): Show ACAGCACATATTTATTATTGACTAAATCTGTCAGCATTTTGATCTACAAC AAACACAAATTGTGTTTTTC	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02602.hp1 HG02738.hp2 others(2): Show HG01167.hp2 HG02602.hp1 HG02738.hp2 NA19056.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0007 a0003c0004 a0001c0001 a0001c0007 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0007t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0007t0001 a0003c0004t0001	a0001c0001t0001g0008 a0001c0001t0002g0027 a0001c0001t0002g0052 others(2): Show a0001c0001t0001g0008 a0001c0001t0002g0027 a0001c0001t0002g0052 a0001c0007t0001g0161 a0003c0004t0001g0164	5	170	0.0294	-69	c.59- others(86): Show c.59-33593_59-33525delGAAAAACACAATTTGTGTTTGTTGTAGA TCAAAATGCTGACAGATTTAGTCAATAATAAATATGTGCTG		RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8						chr21	TogoVar
SCUBE1_chr22_43192280_43348372	43280981	CCTCCTCA others(62): Show CCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCT CCTCAGCTATCCTGTCACCT	C C	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02027.hp1 NA18948.hp1 others(5): Show HG01358.hp1 HG02027.hp1 NA18948.hp1 NA18971.hp2 NA18983.hp2 NA19003.hp1 NA19005.hp2 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0008 a0001c0013 a0002c0002 others(2): Show a0001c0008 a0001c0013 a0002c0002 a0002c0052 a0003c0001	a0001c0008t0009 a0001c0013t0004 a0002c0002t0002 others(2): Show a0001c0008t0009 a0001c0013t0004 a0002c0002t0002 a0002c0052t0002 a0003c0001t0001	a0001c0008t0009g0115 a0001c0013t0004g0116 a0002c0002t0002g0080 others(5): Show a0001c0008t0009g0115 a0001c0013t0004g0116 a0002c0002t0002g0080 a0002c0052t0002g0048 a0003c0001t0001g0101 a0003c0001t0001g0118 a0003c0001t0001g0215 a0003c0001t0001g0251	8	280	0.0286	-69	c.484 others(87): Show c.484+9996_484+10064delAGGTGACAGGATAGCTGAGGAGGAGAT GACAGAAGGGTGGCCAAGGGAGGTGACAGGGTGACTGAGGAG		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21						chr22	TogoVar
SCYL3_chr1_169844631_169898896	169850980	CTTTTTTT others(62): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTATTTGGGCAGCCTCCCAAGCCAG GGTAAGCTCAGGGCCCTTTT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01361.hp2 others(11): Show HG01168.hp1 HG01169.hp1 HG01361.hp2 HG01516.hp1 HG01517.hp1 HG01981.hp2 HG02074.hp2 HG02523.hp2 HG03239.hp1 HG03491.hp2 HG04199.hp2 NA18943.hp1 NA18953.hp2 NA18955.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0029 a0003c0004t0007 a0003c0004t0029	a0003c0004t0007g0013 a0003c0004t0007g0036 a0003c0004t0007g0139 others(7): Show a0003c0004t0007g0013 a0003c0004t0007g0036 a0003c0004t0007g0139 a0003c0004t0007g0237 a0003c0004t0007g0238 a0003c0004t0007g0239 a0003c0004t0007g0240 a0003c0004t0007g0241 a0003c0004t0007g0242 a0003c0004t0029g0037	14	418	0.0335	-69	c.26 others(80): Show c.2664_*2732delAAAAGGGCCCTGAGCTTACCCTGGCTTGGGAGGC TGCCCAAATAAAAAAAAAAAAAAAAAAAAAAAAAA		SCYL3	ENSG00000000457.14	transcript	ENST00000367771.11	protein_coding	13/13				2664		chr1	TogoVar
SDK1_chr7_3296252_4274000	3940034	CCATTGTC others(62): Show CCATTGTCAGAAAGCAGGTGGAGGATGGCCGGAGCCACCCTGGCTGCAGA AACTGACCTACAGAACTTCT	C C	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0012 a0012	a0012c0086 a0012c0086	a0012c0086t0046 a0012c0086t0046	a0012c0086t0046g0012 a0012c0086t0046g0012	1	116	0.0086	-69	c.848 others(88): Show c.848-10753_848-10685delTCTCATTGTCAGAAAGCAGGTGGAGG ATGGCCGGAGCCACCCTGGCTGCAGAAACTGACCTACAGAACT		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	5/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4088971	GGGAGGTG others(62): Show GGGAGGTGAGACCCTCCCTCAGGTGGAGGTGAGACCCTTGTGGGCATCTG CACAATGAGGCCCCTCAGAT	G G	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0062 a0001c0062	a0001c0062t0053 a0001c0062t0053	a0001c0062t0053g0042 a0001c0062t0053g0042	1	116	0.0086	-69	c.332 others(88): Show c.3324+9399_3324+9467delCCTCCCTCAGGTGGAGGTGAGACCCT TGTGGGCATCTGCACAATGAGGCCCCTCAGATGGAGGTGAGAC		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	22/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SEPTIN5_chr22_19709503_19728319	19725300	GGTGAGGA others(62): Show GGTGAGGACGCTGTGGACGGTGAGAACGCTGTGGGGACACTGAGGATGCT GTGAGGACGCTGTGGGGGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02257.hp1 HG02257.hp2 others(15): Show HG01243.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02922.hp2 HG02976.hp1 HG03130.hp1 HG03209.hp2 HG03471.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 NA18906.hp2 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0030 a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0030	18	384	0.0469	-69	c.28 others(80): Show c.2817_*2885delGTGAGGACGCTGTGGACGGTGAGAACGCTGTGGG GACACTGAGGATGCTGTGAGGACGCTGTGGGGGCA		SEPTIN5	ENSG00000184702.20	transcript	ENST00000455784.7	protein_coding					1982		chr22	TogoVar
SGSM1_chr22_24801211_24932578	24845801	CCAGGCAG others(62): Show CCAGGCAGACCTGGATCCACCTCTGCCGCTTTCTTGGGAGGCAAGGACCT CAGTTCACCCTCTCTTCAGG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01891.hp1 HG02055.hp2 others(15): Show HG01109.hp2 HG01891.hp1 HG02055.hp2 HG02109.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02896.hp1 HG02965.hp1 HG02970.hp1 HG03098.hp2 HG03130.hp2 HG03225.hp2 HG03471.hp2 NA19030.hp2 NA19043.hp1 NA20300.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0003c0008 a0003c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0002c0002t0003 a0003c0003t0001 a0003c0003t0017 a0003c0003t0020 a0003c0008t0001 a0003c0010t0001 a0003c0010t0003	a0001c0001t0001g0012 a0001c0001t0001g0039 a0001c0001t0001g0072 others(15): Show a0001c0001t0001g0012 a0001c0001t0001g0039 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0125 a0001c0001t0001g0298 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0002g0286 a0001c0001t0010g0297 a0002c0002t0003g0318 a0003c0003t0001g0302 a0003c0003t0017g0044 a0003c0003t0020g0071 a0003c0008t0001g0126 a0003c0010t0001g0067 a0003c0010t0001g0295 a0003c0010t0003g0017	18	338	0.0533	-69	c.139 others(84): Show c.139+855_139+923delCGCTTTCTTGGGAGGCAAGGACCTCAGTTC ACCCTCTCTTCAGGCAGGCAGACCTGGATCCACCTCTGC		SGSM1	ENSG00000167037.19	transcript	ENST00000400358.9	protein_coding	3/24					INFO_REALIGN_3_PRIME	chr22	TogoVar
SH3BP4_chr2_234947017_235060714	235010748	CAACCCTT others(62): Show CAACCCTTCCTCCCTCTCCTAGGAGAACCCTTCCTCCCTCTCCTAGGAGA AACCTTCCTCCCTCTTCTAG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(88): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01168.hp1 HG01175.hp2 HG01192.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01978.hp2 HG01993.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp2 HG02080.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02155.hp2 HG02258.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG02896.hp2 HG02922.hp2 HG03017.hp1 HG03239.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04204.hp1 HG04228.hp2 NA18522.hp1 NA18942.hp1 NA18947.hp1 NA18948.hp2 NA18960.hp1 NA18962.hp2 NA18964.hp1 NA18967.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18977.hp2 NA18985.hp1 NA19003.hp2 NA19043.hp1 NA19057.hp2 NA19081.hp1 NA19087.hp2 NA19090.hp1 NA19240.hp1 NA20129.hp2 NA20752.hp1 NA20905.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0006 a0007 a0008 a0010 a0011	a0001c0002 a0001c0003 a0001c0004 others(10): Show a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0012 a0002c0001 a0003c0021 a0006c0014 a0007c0011 a0008c0029 a0010c0028 a0011c0026	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(20): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0003t0001 a0001c0003t0011 a0001c0004t0001 a0001c0004t0002 a0001c0006t0001 a0001c0008t0001 a0001c0012t0001 a0002c0001t0001 a0002c0001t0002 a0002c0001t0006 a0002c0001t0007 a0002c0001t0015 a0002c0001t0020 a0003c0021t0017 a0006c0014t0001 a0007c0011t0002 a0008c0029t0001 a0010c0028t0013 a0011c0026t0002	a0001c0002t0001g0004 a0001c0002t0001g0018 a0001c0002t0001g0019 others(85): Show a0001c0002t0001g0004 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0067 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0141 a0001c0002t0001g0163 a0001c0002t0001g0165 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0176 a0001c0002t0001g0260 a0001c0002t0001g0288 a0001c0002t0001g0325 a0001c0002t0002g0251 a0001c0002t0003g0064 a0001c0002t0003g0066 a0001c0002t0003g0079 a0001c0002t0003g0086 a0001c0002t0003g0144 a0001c0002t0003g0236 a0001c0002t0003g0313 a0001c0002t0004g0087 a0001c0002t0004g0123 a0001c0002t0004g0286 a0001c0002t0004g0293 a0001c0002t0004g0305 a0001c0003t0001g0002 a0001c0003t0001g0006 a0001c0003t0001g0007 a0001c0003t0001g0056 a0001c0003t0001g0065 a0001c0003t0001g0068 a0001c0003t0001g0073 a0001c0003t0001g0091 a0001c0003t0001g0111 a0001c0003t0001g0112 a0001c0003t0001g0119 a0001c0003t0001g0124 a0001c0003t0001g0162 a0001c0003t0001g0174 a0001c0003t0001g0267 a0001c0003t0001g0268 a0001c0003t0001g0290 a0001c0003t0001g0315 a0001c0003t0001g0318 a0001c0003t0001g0324 a0001c0003t0001g0326 a0001c0003t0011g0025 a0001c0004t0001g0036 a0001c0004t0001g0052 a0001c0004t0002g0043 a0001c0006t0001g0145 a0001c0006t0001g0296 a0001c0008t0001g0057 a0001c0008t0001g0246 a0001c0012t0001g0001 a0002c0001t0001g0069 a0002c0001t0001g0142 a0002c0001t0001g0256 a0002c0001t0001g0271 a0002c0001t0002g0059 a0002c0001t0002g0085 a0002c0001t0002g0113 a0002c0001t0002g0116 a0002c0001t0002g0167 a0002c0001t0002g0191 a0002c0001t0002g0214 a0002c0001t0002g0272 a0002c0001t0002g0287 a0002c0001t0002g0294 a0002c0001t0002g0306 a0002c0001t0002g0312 a0002c0001t0002g0316 a0002c0001t0002g0319 a0002c0001t0002g0337 a0002c0001t0006g0029 a0002c0001t0007g0304 a0002c0001t0015g0070 a0002c0001t0020g0032 a0003c0021t0017g0146 a0006c0014t0001g0289 a0007c0011t0002g0130 a0008c0029t0001g0196 a0010c0028t0013g0016 a0011c0026t0002g0166	91	348	0.2615	-69	c.-13 others(90): Show c.-133+15467_-133+15535delACCCTTCCTCCCTCTCCTAGGAGA AACCTTCCTCCCTCTTCTAGAACCCTTCCTCCCTCTCCTAGGAGA		SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC12A1_chr15_48201302_48309078	48240033	ATATATAT others(62): Show ATATATATATATATATCCATATATATATATATATATATCCATATATATAT ATATATATCCATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	266	0.0038	-69	c.121 others(88): Show c.1216-1481_1216-1413delTATATATATATATATCCATATATATA TATATATATATCCATATATATATATATATATCCATATATATAT		SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	9/26						chr15	TogoVar
SLC13A3_chr20_46552828_46656459	46600280	GGAAAGGG others(62): Show GGAAAGGGAGGGAAAGAAAGAAAGAAAGAAAGAGGGAAGGAAGGAAAGGA AGGAAGGAAGGAAAGGAAAA	G G	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	390	0.0026	-69	c.542 others(84): Show c.542-312_542-244delTTTTCCTTTCCTTCCTTCCTTCCTTTCCTT CCTTCCCTCTTTCTTTCTTTCTTTCTTTCCCTCCCTTTC		SLC13A3	ENSG00000158296.14	transcript	ENST00000279027.9	protein_coding	3/12						chr20	TogoVar
SLC16A3_chr17_82224042_82245086	82227616	GAGCACCA others(62): Show GAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCAC CACCTGCCCTGGGCGGGAGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(289): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18990.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(3): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0008 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0018 a0001c0001t0020 a0001c0003t0001 a0001c0005t0001 a0001c0006t0001 a0001c0008t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(204): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0264 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0002g0262 a0001c0001t0003g0004 a0001c0001t0003g0021 a0001c0001t0003g0028 a0001c0001t0003g0066 a0001c0001t0003g0103 a0001c0001t0003g0140 a0001c0001t0003g0142 a0001c0001t0003g0189 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0198 a0001c0001t0003g0201 a0001c0001t0005g0085 a0001c0001t0005g0092 a0001c0001t0005g0129 a0001c0001t0005g0152 a0001c0001t0006g0065 a0001c0001t0006g0076 a0001c0001t0006g0077 a0001c0001t0006g0158 a0001c0001t0007g0005 a0001c0001t0007g0025 a0001c0001t0008g0165 a0001c0001t0008g0168 a0001c0001t0008g0172 a0001c0001t0010g0184 a0001c0001t0011g0093 a0001c0001t0011g0163 a0001c0001t0012g0054 a0001c0001t0012g0055 a0001c0001t0013g0010 a0001c0001t0014g0005 a0001c0001t0018g0169 a0001c0001t0020g0021 a0001c0003t0001g0074 a0001c0005t0001g0001 a0001c0006t0001g0170 a0001c0008t0001g0180 a0002c0002t0001g0057 a0002c0002t0001g0060 a0002c0002t0001g0117 a0002c0002t0001g0124 a0002c0002t0001g0133 a0002c0002t0001g0174	292	410	0.7122	-69	c.-15 others(80): Show c.-1516_-1448delAGCACCACCTGCCCTGGGCGGGAGCACCACCTGC CCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGC		SLC16A3	ENSG00000141526.18	transcript	ENST00000582743.6	protein_coding					1425		chr17	TogoVar
SLC16A9_chr10_59645764_59714850	59681515	ATATGTAT others(62): Show ATATGTATATGTGTATGTGTATGTGTATGTATATGTATATGTATATGATG TATATGTATATGTGTATGTG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02723.hp1 HG03195.hp2 others(1): Show HG02647.hp2 HG02723.hp1 HG03195.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0162 a0001c0001t0007g0190 a0001c0001t0007g0266 others(1): Show a0001c0001t0007g0162 a0001c0001t0007g0190 a0001c0001t0007g0266 a0001c0001t0007g0276	4	352	0.0114	-69	c.196 others(86): Show c.196+2512_196+2580delCACATACACATATACATATACATCATAT ACATATACATATACATACACATACACATACACATATACATA		SLC16A9	ENSG00000165449.12	transcript	ENST00000395348.8	protein_coding	2/5						chr10	TogoVar
SLC19A1_chr21_45507565_45547440	45510951	AACACCCC others(62): Show AACACCCCACATACACCCCCAAACACCCCCCACACCCCACACACACAACA CACCCCCCCCCCACACATCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	318	0.0031	-69	c.46 others(80): Show c.4638_*4706delGGATGTGTGGGGGGGGGGTGTGTTGTGTGTGTGG GGTGTGGGGGGTGTTTGGGGGTGTATGTGGGGTGT		SLC19A1	ENSG00000173638.19	transcript	ENST00000311124.9	protein_coding					1613		chr21	TogoVar
SLC22A18_chr11_2897278_2930246	2897837	CGAAGGCC others(62): Show CGAAGGCCAGAGCCCTCCCCGCTCCTTCCAGATCACCCTTCTGTCCTCTG CAGCATCATGGAGTAATGGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00438.hp2 others(45): Show HG00280.hp1 HG00423.hp1 HG00438.hp2 HG00609.hp1 HG00639.hp2 HG00741.hp1 HG01243.hp1 HG01346.hp2 HG01891.hp2 HG02145.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG04115.hp2 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18972.hp1 NA19000.hp1 NA19030.hp1 NA19043.hp2 NA20129.hp2 NA20300.hp1 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0009	a0001c0001 a0001c0008 a0002c0002 others(12): Show a0001c0001 a0001c0008 a0002c0002 a0002c0003 a0002c0011 a0002c0020 a0002c0034 a0002c0035 a0002c0038 a0003c0004 a0003c0007 a0003c0016 a0003c0024 a0004c0005 a0009c0018	a0001c0001t0001 a0001c0008t0001 a0002c0002t0001 others(12): Show a0001c0001t0001 a0001c0008t0001 a0002c0002t0001 a0002c0003t0001 a0002c0011t0001 a0002c0020t0001 a0002c0034t0001 a0002c0035t0001 a0002c0038t0001 a0003c0004t0001 a0003c0007t0001 a0003c0016t0001 a0003c0024t0001 a0004c0005t0001 a0009c0018t0001	a0001c0001t0001g0214 a0001c0001t0001g0230 a0001c0008t0001g0037 others(35): Show a0001c0001t0001g0214 a0001c0001t0001g0230 a0001c0008t0001g0037 a0001c0008t0001g0177 a0001c0008t0001g0180 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0112 a0002c0002t0001g0116 a0002c0003t0001g0036 a0002c0003t0001g0051 a0002c0003t0001g0145 a0002c0003t0001g0146 a0002c0003t0001g0147 a0002c0003t0001g0155 a0002c0003t0001g0161 a0002c0003t0001g0163 a0002c0003t0001g0174 a0002c0003t0001g0285 a0002c0011t0001g0015 a0002c0020t0001g0167 a0002c0020t0001g0283 a0002c0034t0001g0051 a0002c0035t0001g0122 a0002c0038t0001g0054 a0003c0004t0001g0002 a0003c0004t0001g0017 a0003c0004t0001g0023 a0003c0004t0001g0076 a0003c0004t0001g0088 a0003c0004t0001g0185 a0003c0007t0001g0002 a0003c0007t0001g0053 a0003c0016t0001g0184 a0003c0024t0001g0089 a0004c0005t0001g0009 a0004c0005t0001g0227 a0009c0018t0001g0050	48	405	0.1185	-69	c.-46 others(80): Show c.-4659_-4591delGAAGGCCAGAGCCCTCCCCGCTCCTTCCAGATCA CCCTTCTGTCCTCTGCAGCATCATGGAGTAATGGT		SLC22A18	ENSG00000110628.16	transcript	ENST00000649076.2	protein_coding					4440		chr11	TogoVar
SLC5A11_chr16_24840963_24916626	24913418	AGAAGTCT others(62): Show AGAAGTCTTCACCGGGGAGGTTGAGCTTCTGCCTCCAAGGCCCAAAGAAG GGGAGTGGGCGGCATGGGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	378	0.0027	-69	c.18 others(80): Show c.1886_*1954delGAAGTCTTCACCGGGGAGGTTGAGCTTCTGCCTC CAAGGCCCAAAGAAGGGGAGTGGGCGGCATGGGAG		SLC5A11	ENSG00000158865.13	transcript	ENST00000424767.7	protein_coding					1793		chr16	TogoVar
SNAP47_chr1_227730435_227786226	227749750	CTGTGTGT others(62): Show CTGTGTGTGTCTGTGTGTCGTCTGTATGTGTATGTGTGTCTGTGTGTTTC TGTTTGTGTCTGTGTGTATT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp2 HG00642.hp2 others(37): Show HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00741.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01975.hp1 HG01993.hp1 HG02109.hp1 HG02135.hp2 HG02280.hp1 HG02486.hp2 HG03225.hp2 HG03453.hp2 HG03516.hp2 HG03579.hp1 HG03688.hp2 HG04204.hp2 NA18747.hp2 NA18945.hp1 NA18961.hp1 NA18966.hp2 NA18973.hp2 NA18980.hp1 NA18984.hp2 NA18985.hp1 NA18989.hp1 NA18994.hp1 NA18997.hp1 NA19000.hp2 NA19011.hp2 NA19056.hp2 NA19060.hp1 NA19063.hp2 NA19068.hp1 NA19083.hp1 NA19088.hp2 NA19091.hp2 NA21309.hp2	a0002 a0004 a0006 a0002 a0004 a0006	a0002c0002 a0004c0004 a0006c0007 a0002c0002 a0004c0004 a0006c0007	a0002c0002t0001 a0004c0004t0001 a0006c0007t0001 a0002c0002t0001 a0004c0004t0001 a0006c0007t0001	a0002c0002t0001g0064 a0002c0002t0001g0066 a0002c0002t0001g0067 others(30): Show a0002c0002t0001g0064 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0004c0004t0001g0002 a0004c0004t0001g0010 a0004c0004t0001g0011 a0004c0004t0001g0012 a0004c0004t0001g0013 a0004c0004t0001g0047 a0004c0004t0001g0048 a0004c0004t0001g0049 a0004c0004t0001g0050 a0004c0004t0001g0051 a0004c0004t0001g0052 a0004c0004t0001g0054 a0004c0004t0001g0057 a0004c0004t0001g0058 a0004c0004t0001g0062 a0004c0004t0001g0063 a0004c0004t0001g0065 a0006c0007t0001g0014 a0006c0007t0001g0053 a0006c0007t0001g0055 a0006c0007t0001g0056 a0006c0007t0001g0059 a0006c0007t0001g0060 a0006c0007t0001g0061	40	396	0.1010	-69	c.497 others(86): Show c.497+1528_497+1596delTGTGTGTCGTCTGTATGTGTATGTGTGT CTGTGTGTTTCTGTTTGTGTCTGTGTGTATTTGTGTGTGTC		SNAP47	ENSG00000143740.15	transcript	ENST00000617596.5	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr1	TogoVar
SNTG2_chr2_945849_1372613	1230990	GGAAATAG others(62): Show GGAAATAGATCCGAAAGGTGAATTACTTAGGATAATGACAGTGCCTCTTC CATAGGGTCACTGCGAGGGT	G G	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01106.hp1 HG01169.hp2 others(48): Show HG00673.hp2 HG01106.hp1 HG01169.hp2 HG01256.hp2 HG01261.hp1 HG01361.hp1 HG01517.hp1 HG01891.hp1 HG02015.hp2 HG02132.hp2 HG02145.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02300.hp2 HG02486.hp2 HG02572.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02886.hp1 HG02886.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03490.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03710.hp2 HG04184.hp1 NA18522.hp1 NA18961.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18983.hp2 NA18984.hp1 NA19000.hp1 NA19030.hp2 NA20129.hp2 NA21309.hp1	a0003 a0004 a0005 others(7): Show a0003 a0004 a0005 a0006 a0009 a0011 a0012 a0014 a0020 a0021	a0003c0007 a0003c0008 a0004c0004 others(12): Show a0003c0007 a0003c0008 a0004c0004 a0004c0014 a0005c0006 a0005c0015 a0006c0009 a0006c0010 a0006c0028 a0009c0013 a0011c0018 a0012c0019 a0014c0035 a0020c0032 a0021c0030	a0003c0007t0001 a0003c0008t0001 a0004c0004t0001 others(14): Show a0003c0007t0001 a0003c0008t0001 a0004c0004t0001 a0004c0004t0002 a0004c0014t0001 a0004c0014t0002 a0005c0006t0001 a0005c0015t0001 a0006c0009t0001 a0006c0010t0001 a0006c0028t0001 a0009c0013t0001 a0011c0018t0001 a0012c0019t0001 a0014c0035t0001 a0020c0032t0001 a0021c0030t0001	a0003c0007t0001g0055 a0003c0007t0001g0108 a0003c0007t0001g0184 others(48): Show a0003c0007t0001g0055 a0003c0007t0001g0108 a0003c0007t0001g0184 a0003c0008t0001g0130 a0003c0008t0001g0190 a0004c0004t0001g0040 a0004c0004t0001g0047 a0004c0004t0001g0065 a0004c0004t0001g0088 a0004c0004t0001g0089 a0004c0004t0001g0116 a0004c0004t0001g0134 a0004c0004t0001g0144 a0004c0004t0001g0149 a0004c0004t0001g0150 a0004c0004t0001g0151 a0004c0004t0001g0169 a0004c0004t0001g0177 a0004c0004t0001g0180 a0004c0004t0001g0181 a0004c0004t0002g0074 a0004c0014t0001g0036 a0004c0014t0001g0054 a0004c0014t0002g0001 a0005c0006t0001g0019 a0005c0006t0001g0079 a0005c0006t0001g0081 a0005c0006t0001g0082 a0005c0006t0001g0083 a0005c0006t0001g0085 a0005c0006t0001g0086 a0005c0015t0001g0153 a0006c0009t0001g0011 a0006c0009t0001g0049 a0006c0009t0001g0050 a0006c0009t0001g0094 a0006c0009t0001g0121 a0006c0009t0001g0163 a0006c0010t0001g0009 a0006c0010t0001g0012 a0006c0010t0001g0043 a0006c0010t0001g0162 a0006c0028t0001g0117 a0009c0013t0001g0042 a0011c0018t0001g0045 a0011c0018t0001g0046 a0012c0019t0001g0122 a0012c0019t0001g0159 a0014c0035t0001g0071 a0020c0032t0001g0059 a0021c0030t0001g0160	51	190	0.2684	-69	c.720 others(86): Show c.720-6808_720-6740delATTACTTAGGATAATGACAGTGCCTCTT CCATAGGGTCACTGCGAGGGTGAAATAGATCCGAAAGGTGA		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1231081	TTACTTAG others(62): Show TTACTTAGGATAATGACAGTGCCTCTTCCATAGGGTCACTGCGAGGGTGA AATAGATCCGAAAGGTGACC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02615.hp1 HG03453.hp1 others(1): Show HG02486.hp1 HG02615.hp1 HG03453.hp1 HG03486.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0002 a0003c0007t0001 a0003c0007t0002	a0003c0007t0001g0008 a0003c0007t0001g0104 a0003c0007t0002g0075 others(1): Show a0003c0007t0001g0008 a0003c0007t0001g0104 a0003c0007t0002g0075 a0003c0007t0002g0077	4	190	0.0211	-69	c.720 others(86): Show c.720-6749_720-6681delCGAAAGGTGACCTACTTAGGATAATGAC AGTGCCTCTTCCATAGGGTCACTGCGAGGGTGAAATAGATC		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX24_chr5_122840613_123014205	122863850	TAGCCCAT others(62): Show TAGCCCATGTTGGCTTTTACTTTGGGAAGTAGGAGGCAGAGGAGCGACGT GATTCAGTGGCACTGTTCCC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02647.hp1 HG02451.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0318 a0001c0001t0008g0319 a0001c0001t0008g0318 a0001c0001t0008g0319	2	330	0.0061	-69	c.60+ others(86): Show c.60+18205_60+18273delGTGATTCAGTGGCACTGTTCCCAGCCCA TGTTGGCTTTTACTTTGGGAAGTAGGAGGCAGAGGAGCGAC		SNX24	ENSG00000064652.11	transcript	ENST00000261369.9	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr5	TogoVar
SORCS2_chr4_7187538_7747827	7448935	CCTCCCTC others(62): Show CCTCCCTCTTTTCCCTCTCTCCCTCCCTTCCTGTCTTTTCCCTCTCTCCC TCCCTTCCTCTTTTCCCTCT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0029 a0005c0008t0001g0029	1	168	0.0060	-69	c.548 others(88): Show c.548+52583_548+52651delCCCTCTTTTCCCTCTCTCCCTCCCTT CCTGTCTTTTCCCTCTCTCCCTCCCTTCCTCTTTTCCCTCTCT		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SPIDR_chr8_47255938_47741306	47588030	TATATATA others(62): Show TATATATATATATATATATATATATATATATATATATATATATATATATA TATATATACACGTATGTATC	T T	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02895.hp1 HG03579.hp1 others(2): Show HG01192.hp2 HG02895.hp1 HG03579.hp1 NA18906.hp1 NA21309.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0005 a0003c0003t0002g0006 a0003c0003t0002g0007 others(2): Show a0003c0003t0002g0005 a0003c0003t0002g0006 a0003c0003t0002g0007 a0003c0003t0002g0008 a0003c0003t0002g0009	5	216	0.0232	-69	c.109 others(88): Show c.1098-7780_1098-7712delATATATATATATATATATATATATAT ATATATATATATATATATATATATATATATACACGTATGTATC		SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19						chr8	TogoVar
SPIDR_chr8_47255938_47741306	47723925	CAAAAGGT others(62): Show CAAAAGGTATAATCATTGATTACATTATCATTATTATTTAAATAAACTAT TATCTTTTCTATCAATTTAG	C C	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	216	0.0046	-69	c.234 others(88): Show c.2342-3272_2342-3204delAAGGTATAATCATTGATTACATTATC ATTATTATTTAAATAAACTATTATCTTTTCTATCAATTTAGAA		SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	16/19					INFO_REALIGN_3_PRIME	chr8	TogoVar
SPINK4_chr9_33235167_33253567	33252046	GGGAGAAG others(62): Show GGGAGAAGAAGGGGTGCTCTCTCCCCTTCTCACGGGAGAAGAAGGGGTGC TCTCTCCCCTTCTCACGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01981.hp2 HG01256.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	378	0.0053	-69	c.35 others(80): Show c.3576_*3644delGGAGAAGAAGGGGTGCTCTCTCCCCTTCTCACGG GAGAAGAAGGGGTGCTCTCTCCCCTTCTCACGGGA		SPINK4	ENSG00000122711.9	transcript	ENST00000379721.4	protein_coding					3480		chr9	TogoVar
SPINK4_chr9_33235167_33253567	33252079	GGGAGAAG others(62): Show GGGAGAAGAAGGGGTGCTCTCTCCCCTTCTCACGGGAGAAGAAGGGGTGC TCTCTCCCCTTCTCACGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG01975.hp2 HG02145.hp1 HG00733.hp1 HG01975.hp2 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0056 a0001c0001t0001g0001 a0001c0001t0001g0056	3	378	0.0079	-69	c.36 others(80): Show c.3609_*3677delGGAGAAGAAGGGGTGCTCTCTCCCCTTCTCACGG GAGAAGAAGGGGTGCTCTCTCCCCTTCTCACGGGA		SPINK4	ENSG00000122711.9	transcript	ENST00000379721.4	protein_coding					3513		chr9	TogoVar
SRGAP2C_chr1_121179975_121397874	121239220	ATATATAT others(62): Show ATATATATACTATATATATATATATACTATATATATATATATATATACTA TATATATATATACTATATAT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02630.hp1 HG02109.hp1 HG02630.hp1	a0001 a0003 a0001 a0003	a0001c0005 a0003c0004 a0001c0005 a0003c0004	a0001c0005t0054 a0003c0004t0018 a0001c0005t0054 a0003c0004t0018	a0001c0005t0054g0270 a0003c0004t0018g0002 a0001c0005t0054g0270 a0003c0004t0018g0002	2	274	0.0073	-69	c.68- others(86): Show c.68-45582_68-45514delTATATATACTATATATATATATATACTA TATATATATATATATATACTATATATATATATACTATATAT		SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	2/9						chr1	TogoVar
SRMS_chr20_63533489_63552749	63535812	CCCCCTCC others(62): Show CCCCCTCCTCACCTGGCCTCCCGCCCCCCCCCTCACCTGGCCTCCCGCCC CCTCCTCACCTGGCCTCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0013 a0013	a0013c0025 a0013c0025	a0013c0025t0010 a0013c0025t0010	a0013c0025t0010g0066 a0013c0025t0010g0066	1	356	0.0028	-69	c.49 others(80): Show c.4937_*5005delCGGGAGGCCAGGTGAGGAGGGGGCGGGAGGCCAG GTGAGGGGGGGGGCGGGAGGCCAGGTGAGGAGGGG		SRMS	ENSG00000125508.4	transcript	ENST00000217188.2	protein_coding					2676		chr20	TogoVar
SRMS_chr20_63533489_63552749	63535835	CCCCCCCC others(62): Show CCCCCCCCCTCACCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCCC CCTCCTCACCTGGCCTCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02572.hp1 HG02630.hp2 others(5): Show HG02258.hp1 HG02572.hp1 HG02630.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 NA19043.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0009 a0002c0003 a0004c0005 a0001c0009 a0002c0003 a0004c0005	a0001c0009t0015 a0002c0003t0004 a0002c0003t0014 others(2): Show a0001c0009t0015 a0002c0003t0004 a0002c0003t0014 a0002c0003t0029 a0004c0005t0006	a0001c0009t0015g0027 a0002c0003t0004g0004 a0002c0003t0014g0024 others(3): Show a0001c0009t0015g0027 a0002c0003t0004g0004 a0002c0003t0014g0024 a0002c0003t0029g0046 a0004c0005t0006g0005 a0004c0005t0006g0060	8	356	0.0225	-69	c.49 others(80): Show c.4914_*4982delCGGGAGGCCAGGTGAGGAGGGGGCGGGAGGCCAG GTGAGGAGGGGGCGGGAGGCCAGGTGAGGGGGGGG		SRMS	ENSG00000125508.4	transcript	ENST00000217188.2	protein_coding					2653		chr20	TogoVar
SSC5D_chr19_55483436_55524099	55518029	TCACTCCA others(62): Show TCACTCCACCATGATTCCTGACCCCACCACAACCCCTCAACCCTTCACCA CCATGCAGCCCACCACGATG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00642.hp2 HG00733.hp1 HG01106.hp1 others(30): Show HG00642.hp2 HG00733.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01928.hp1 HG01934.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG02056.hp2 HG02071.hp2 HG02109.hp1 HG02132.hp1 HG02273.hp1 HG02273.hp2 HG02486.hp2 HG02523.hp2 HG02622.hp2 HG02723.hp1 HG02809.hp1 HG02896.hp1 HG03540.hp1 NA18951.hp2 NA18973.hp1 NA18984.hp1 NA19003.hp1 NA19007.hp2 NA19082.hp1	a0005 a0020 a0035 others(1): Show a0005 a0020 a0035 a0045	a0005c0005 a0005c0018 a0005c0057 others(7): Show a0005c0005 a0005c0018 a0005c0057 a0005c0068 a0005c0070 a0005c0079 a0005c0105 a0020c0033 a0035c0073 a0045c0060	a0005c0005t0001 a0005c0018t0001 a0005c0057t0001 others(7): Show a0005c0005t0001 a0005c0018t0001 a0005c0057t0001 a0005c0068t0001 a0005c0070t0001 a0005c0079t0001 a0005c0105t0001 a0020c0033t0001 a0035c0073t0001 a0045c0060t0001	a0005c0005t0001g0200 a0005c0005t0001g0202 a0005c0005t0001g0203 others(30): Show a0005c0005t0001g0200 a0005c0005t0001g0202 a0005c0005t0001g0203 a0005c0005t0001g0205 a0005c0005t0001g0220 a0005c0005t0001g0221 a0005c0005t0001g0222 a0005c0005t0001g0223 a0005c0005t0001g0224 a0005c0005t0001g0242 a0005c0005t0001g0243 a0005c0005t0001g0244 a0005c0005t0001g0245 a0005c0005t0001g0293 a0005c0005t0001g0294 a0005c0005t0001g0295 a0005c0005t0001g0296 a0005c0005t0001g0341 a0005c0005t0001g0379 a0005c0005t0001g0380 a0005c0018t0001g0042 a0005c0018t0001g0238 a0005c0018t0001g0328 a0005c0018t0001g0356 a0005c0057t0001g0064 a0005c0068t0001g0355 a0005c0070t0001g0372 a0005c0079t0001g0149 a0005c0105t0001g0193 a0020c0033t0001g0013 a0020c0033t0001g0014 a0035c0073t0001g0128 a0045c0060t0001g0329	33	412	0.0801	-69	c.375 others(78): Show c.3755_3823delACTCCACCATGATTCCTGACCCCACCACAACCCCTC AACCCTTCACCACCATGCAGCCCACCACGATGC	p.His others(15): Show p.His1252_Met1274del	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	14/14	3909/4977	3755/4722	1252/1573		INFO_REALIGN_3_PRIME	chr19	TogoVar
ST6GAL1_chr3_186925526_187083553	186984756	CTCCCTCC others(62): Show CTCCCTCCCTCCTTCCTTCCTTCCCTTCCTCCCTTCCTTCCTTCCTTCCA TCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00558.hp2 others(35): Show HG00140.hp2 HG00408.hp2 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp2 HG01123.hp2 HG01943.hp2 HG01952.hp1 HG01981.hp1 HG02004.hp2 HG02015.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02155.hp1 HG02293.hp1 HG02683.hp1 HG03579.hp2 HG04204.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp2 NA18969.hp2 NA18986.hp1 NA18990.hp2 NA18993.hp1 NA19004.hp1 NA19010.hp2 NA19011.hp2 NA19060.hp2 NA19074.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0024 a0001c0001t0028 a0001c0001t0036 a0001c0001t0039 a0001c0002t0020 a0001c0002t0022 a0001c0004t0038 a0001c0009t0005	a0001c0001t0001g0075 a0001c0001t0001g0132 a0001c0001t0001g0154 others(35): Show a0001c0001t0001g0075 a0001c0001t0001g0132 a0001c0001t0001g0154 a0001c0001t0001g0176 a0001c0001t0001g0188 a0001c0001t0001g0285 a0001c0001t0002g0290 a0001c0001t0002g0312 a0001c0001t0002g0322 a0001c0001t0002g0359 a0001c0001t0003g0129 a0001c0001t0003g0134 a0001c0001t0003g0192 a0001c0001t0004g0296 a0001c0001t0004g0318 a0001c0001t0004g0343 a0001c0001t0004g0354 a0001c0001t0005g0085 a0001c0001t0005g0284 a0001c0001t0006g0102 a0001c0001t0006g0262 a0001c0001t0007g0131 a0001c0001t0010g0103 a0001c0001t0011g0165 a0001c0001t0011g0227 a0001c0001t0012g0317 a0001c0001t0012g0327 a0001c0001t0013g0320 a0001c0001t0013g0324 a0001c0001t0015g0086 a0001c0001t0024g0311 a0001c0001t0028g0092 a0001c0001t0036g0241 a0001c0001t0039g0186 a0001c0002t0020g0329 a0001c0002t0022g0199 a0001c0004t0038g0016 a0001c0009t0005g0101	38	362	0.1050	-69	c.-18 others(90): Show c.-183+20842_-183+20910delTTCCTTCCTTCCCTTCCTCCCTTC CTTCCTTCCTTCCATCCTTCCTTCCTTCCTTCCTTCCCTCCCTCC		ST6GAL1	ENSG00000073849.16	transcript	ENST00000169298.8	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr3	TogoVar
STX17_chr9_99901654_99979534	99902110	ACATTTTC others(62): Show ACATTTTCCCCATTGTCTTGGCGATTAACATTTGGCTCCTCATTACTTAT GCAAATTTCTGCAGACAGCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	294	0.0034	-69	c.-46 others(80): Show c.-4658_-4590delCATTTTCCCCATTGTCTTGGCGATTAACATTTGG CTCCTCATTACTTATGCAAATTTCTGCAGACAGCT		STX17	ENSG00000136874.11	transcript	ENST00000259400.11	protein_coding					4543		chr9	TogoVar
STYX_chr14_52725166_52779989	52735855	ATAGGACA others(62): Show ATAGGACAGTGCTAACAAAAATTTAGATCAGTCAGTTTGTGAAAAGATTG TTACTTTTTTTGTTTAAAAC	A A	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0031 a0001c0001t0005g0031	1	370	0.0027	-69	c.57+ others(84): Show c.57+5326_57+5394delAGGACAGTGCTAACAAAAATTTAGATCAGT CAGTTTGTGAAAAGATTGTTACTTTTTTTGTTTAAAACT		STYX	ENSG00000198252.12	transcript	ENST00000354586.5	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr14	TogoVar
SWAP70_chr11_9659077_9757993	9705783	TTGGTGAT others(62): Show TTGGTGATCTGTATGCACTGGTGATCTGTATACACTGGTGATCTGTGTAT ACTTGGTGATCTGTATACAC	T T	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0269 a0002c0001t0001g0269	1	294	0.0034	-69	c.241 others(86): Show c.241-7671_241-7603delATGCACTGGTGATCTGTATACACTGGTG ATCTGTGTATACTTGGTGATCTGTATACACTGGTGATCTGT		SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr11	TogoVar
SYNJ2BP_chr14_70361499_70422090	70412457	GTATGTAT others(62): Show GTATGTATGTATAGTATATATACAGTATATATATGTATGTATAGTATATA TACAGTATATATACAGTATA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03486.hp1 HG03471.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0055 a0001c0001t0002 a0001c0001t0055	a0001c0001t0002g0286 a0001c0001t0055g0215 a0001c0001t0002g0286 a0001c0001t0055g0215	2	364	0.0055	-69	c.64+ others(84): Show c.64+4374_64+4442delTATACTGTATATATACTGTATATATACTAT ACATACATATATATACTGTATATATACTATACATACATA		SYNJ2BP	ENSG00000213463.5	transcript	ENST00000256366.6	protein_coding	1/3						chr14	TogoVar
TAB3_chrX_30822442_30894254	30868481	TTATATAT others(62): Show TTATATATATATATAGCTTATATATATATATATAGCTTATATATATATAT ATATAGCTTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03453.hp1 HG03579.hp1 others(1): Show HG01081.hp2 HG03453.hp1 HG03579.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0012 a0001c0001t0030 a0001c0001t0005 a0001c0001t0012 a0001c0001t0030	a0001c0001t0005g0224 a0001c0001t0005g0236 a0001c0001t0012g0133 others(1): Show a0001c0001t0005g0224 a0001c0001t0005g0236 a0001c0001t0012g0133 a0001c0001t0030g0288	4	302	0.0133	-69	c.-27 others(87): Show c.-279-1001_-279-933delTATATATATATAAGCTATATATATATA TATATAAGCTATATATATATATATAAGCTATATATATATATA		TAB3	ENSG00000157625.16	transcript	ENST00000288422.4	protein_coding	2/10						chrX	TogoVar
TAFA2_chr12_61703273_62197773	62073340	CTATAGGT others(62): Show CTATAGGTAGGTGTTATTATCTTATCTATATATTATAGATAAGAAAACAC CTTTGAGGTAGGTGTTATAT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG03516.hp1 others(1): Show HG02895.hp2 HG02897.hp2 HG03516.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0029 a0001c0001t0030 a0001c0001t0017 a0001c0001t0029 a0001c0001t0030	a0001c0001t0017g0214 a0001c0001t0017g0215 a0001c0001t0029g0213 others(1): Show a0001c0001t0017g0214 a0001c0001t0017g0215 a0001c0001t0029g0213 a0001c0001t0030g0216	4	220	0.0182	-69	c.-2+ others(88): Show c.-2+117850_-2+117918delATATAACACCTACCTCAAAGGTGTTT TCTTATCTATAATATATAGATAAGATAATAACACCTACCTATA		TAFA2	ENSG00000198673.11	transcript	ENST00000416284.8	protein_coding	1/4						chr12	TogoVar
TAFA5_chr22_48484553_48756932	48656713	TTGAGATG others(62): Show TTGAGATGGAGTCTCATTTTTTTTTCTTTTGAGATGGAGTCTCTTTTTTT TTTTTTTTTTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	258	0.0039	-69	c.262 others(87): Show c.262+9968_262+10036delTGAGATGGAGTCTCATTTTTTTTTCTT TTGAGATGGAGTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTG		TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	2/3						chr22	TogoVar
TBCD_chr17_82747065_82950914	82854958	CACACCTC others(62): Show CACACCTCCTAACACCGTGCTCTTGGGAGTGAGGATTTCAGCAGGAATTC TGGGGAACAGAAGCATTGGG	C C	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0128 a0004c0005t0001g0128	1	318	0.0031	-69	c.131 others(90): Show c.1319-15265_1319-15197delACACCTCCTAACACCGTGCTCTTG GGAGTGAGGATTTCAGCAGGAATTCTGGGGAACAGAAGCATTGGG		TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	13/38						chr17	TogoVar
TCF3_chr19_1604292_1657615	1628258	GGTGAGGC others(62): Show GGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGG ACAGCAGAGCTCACAGGGGA	G G	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0028 a0001c0004t0028	a0001c0004t0028g0101 a0001c0004t0028g0101	1	352	0.0028	-69	c.299 others(84): Show c.299-901_299-833delTCCCCTGTGAGCTCTGCTGTCCCCTTCCCG CCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCAC		TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18						chr19	TogoVar
TCP11L2_chr12_106297733_106352003	106305227	AAGGTTAT others(62): Show AAGGTTATAATAAGGATTCAAGGAGATAAAATATATAAAGAACTTATCAT AGAACAGTTATTGAGTGCTT	A A	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02735.hp1 HG02015.hp2 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0003g0262 a0001c0001t0003g0263	2	344	0.0058	-69	c.-36 others(86): Show c.-36+2288_-36+2356delGGTTATAATAAGGATTCAAGGAGATAAA ATATATAAAGAACTTATCATAGAACAGTTATTGAGTGCTTA		TCP11L2	ENSG00000166046.11	transcript	ENST00000299045.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
THADA_chr2_43225851_43601038	43515036	ATAAATAT others(62): Show ATAAATATATATATTTTATATATAATATATTTTATATATAATATATATAA ATATATATATTATATATAAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02559.hp2 HG02717.hp2 others(6): Show HG01243.hp2 HG02559.hp2 HG02717.hp2 HG02922.hp1 HG03471.hp1 HG03540.hp2 HG03579.hp2 HG04204.hp2 NA20129.hp2	a0004 a0010 a0011 others(1): Show a0004 a0010 a0011 a0025	a0004c0005 a0004c0015 a0010c0013 others(3): Show a0004c0005 a0004c0015 a0010c0013 a0010c0037 a0011c0017 a0025c0038	a0004c0005t0001 a0004c0015t0001 a0010c0013t0001 others(3): Show a0004c0005t0001 a0004c0015t0001 a0010c0013t0001 a0010c0037t0001 a0011c0017t0001 a0025c0038t0001	a0004c0005t0001g0026 a0004c0015t0001g0068 a0010c0013t0001g0013 others(6): Show a0004c0005t0001g0026 a0004c0015t0001g0068 a0010c0013t0001g0013 a0010c0013t0001g0022 a0010c0013t0001g0032 a0010c0037t0001g0066 a0011c0017t0001g0012 a0011c0017t0001g0063 a0025c0038t0001g0064	9	206	0.0437	-69	c.337 others(88): Show c.3375-6325_3375-6257delATTATATATAATATATATATTTATAT ATATTATATATAAAATATATTATATATAAAATATATATATTTA		THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	22/37						chr2	TogoVar
THSD7B_chr2_136760545_137682718	136890338	TTCTTCTT others(62): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCCTCTT CCTCTTCCTCTTCCTCTTCC	T T	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG04199.hp1 HG01515.hp2 HG04199.hp1	a0001 a0004 a0001 a0004	a0001c0005 a0004c0051 a0001c0005 a0004c0051	a0001c0005t0001 a0004c0051t0001 a0001c0005t0001 a0004c0051t0001	a0001c0005t0001g0022 a0004c0051t0001g0069 a0001c0005t0001g0022 a0004c0051t0001g0069	2	98	0.0204	-69	c.139 others(86): Show c.139+8060_139+8128delCTCTTCCTCTTCCTCTTCCTCTTCCTCT TCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC		THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	2/27					INFO_REALIGN_3_PRIME	chr2	TogoVar
TIAM1_chr21_31113418_31349261	31210685	AAAAGAAA others(62): Show AAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAAAGAGAAA GAAGGAAGGAAGGGAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0002 a0003c0010t0002	a0003c0010t0002g0204 a0003c0010t0002g0204	1	212	0.0047	-69	c.221 others(86): Show c.2218-539_2218-471delCTTTCTCCCTTCCTTCCTTCTTTCTCTT TCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTT		TIAM1	ENSG00000156299.15	transcript	ENST00000541036.6	protein_coding	10/27						chr21	TogoVar
TIAM2_chr6_154990315_155262723	155028685	CATATAAT others(62): Show CATATAATATATATACTGTGTTATATATATACTACATATAATATATATAC TGTGTTATATACTACATATA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02572.hp2 HG02723.hp1 others(1): Show HG01884.hp2 HG02572.hp2 HG02723.hp1 HG02818.hp2	a0001 a0005 a0015 a0001 a0005 a0015	a0001c0002 a0001c0022 a0005c0012 others(1): Show a0001c0002 a0001c0022 a0005c0012 a0015c0020	a0001c0002t0010 a0001c0022t0008 a0005c0012t0007 others(1): Show a0001c0002t0010 a0001c0022t0008 a0005c0012t0007 a0015c0020t0005	a0001c0002t0010g0154 a0001c0022t0008g0155 a0005c0012t0007g0001 others(1): Show a0001c0002t0010g0154 a0001c0022t0008g0155 a0005c0012t0007g0001 a0015c0020t0005g0226	4	230	0.0174	-69	c.-20 others(90): Show c.-209+33199_-209+33267delATATATATACTGTGTTATATATAT ACTACATATAATATATATACTGTGTTATATACTACATATAATATA		TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr6	TogoVar
TINAGL1_chr1_31571515_31592686	31578877	GGTGTGTG others(62): Show GGTGTGTGTGTGTGTGTGTGTGATATCTTCAGTTATAGTTTGGCTTCAAT TTCAGTGAGAGCTGGTATGT	G G	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	440	0.0023	-69	c.311 others(84): Show c.311-309_311-241delTGTGATATCTTCAGTTATAGTTTGGCTTCA ATTTCAGTGAGAGCTGGTATGTGTGTGTGTGTGTGTGTG		TINAGL1	ENSG00000142910.16	transcript	ENST00000271064.12	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
TMCO3_chr13_113486021_113555229	113529321	GCTGTCAT others(62): Show GCTGTCATCCCAGCGCTTTGGGAGGCTGAGGCAGGAAGATGGCTTGAGAG CCGGGCGCAGCGGCTTCCGC	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp2 HG00621.hp1 others(12): Show HG00544.hp2 HG00558.hp2 HG00621.hp1 HG00673.hp1 HG02080.hp1 NA18747.hp1 NA18943.hp1 NA18944.hp1 NA18953.hp1 NA18968.hp2 NA18974.hp2 NA18990.hp1 NA19000.hp1 NA19064.hp2 NA19079.hp2	a0001 a0003 a0001 a0003	a0001c0006 a0003c0002 a0001c0006 a0003c0002	a0001c0006t0001 a0003c0002t0002 a0001c0006t0001 a0003c0002t0002	a0001c0006t0001g0232 a0001c0006t0001g0233 a0001c0006t0001g0234 others(12): Show a0001c0006t0001g0232 a0001c0006t0001g0233 a0001c0006t0001g0234 a0001c0006t0001g0235 a0001c0006t0001g0236 a0001c0006t0001g0237 a0001c0006t0001g0238 a0001c0006t0001g0239 a0001c0006t0001g0240 a0001c0006t0001g0241 a0001c0006t0001g0242 a0001c0006t0001g0243 a0001c0006t0001g0245 a0001c0006t0001g0251 a0003c0002t0002g0087	15	368	0.0408	-69	c.134 others(88): Show c.1344-4714_1344-4646delCAGCGCTTTGGGAGGCTGAGGCAGGA AGATGGCTTGAGAGCCGGGCGCAGCGGCTTCCGCCTGTCATCC		TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr13	TogoVar

Search by Variant

Search

Search Results