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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RORA_chr15_60483284_61234302	60816082	GTATACTG others(45): Show GTATACTGTAAACAGTATATGTATTTATATACTGTAAACAGTATATGTAT TTA	G G	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01884.hp2 HG02647.hp1 others(4): Show HG01123.hp2 HG01884.hp2 HG02647.hp1 HG02723.hp2 HG02738.hp1 HG02886.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0011 a0001c0001t0045 others(4): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0045 a0001c0001t0052 a0001c0002t0003 a0001c0005t0004 a0001c0006t0004	a0001c0001t0001g0109 a0001c0001t0011g0066 a0001c0001t0045g0004 others(4): Show a0001c0001t0001g0109 a0001c0001t0011g0066 a0001c0001t0045g0004 a0001c0001t0052g0002 a0001c0002t0003g0080 a0001c0005t0004g0107 a0001c0006t0004g0078	7	118	0.0593	-52	c.167 others(73): Show c.167-137448_167-137397delTAAATACATATACTGTTTACAGTA TATAAATACATATACTGTTTACAGTATA	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RORB_chr9_74492335_74698177	74549539	GGGAGGGA others(45): Show GGGAGGGAGGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA19074.hp1 HG00408.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0135 a0001c0001t0004g0124 a0001c0001t0001g0135 a0001c0001t0004g0124	2	226	0.0089	-52	c.7+5 others(67): Show c.7+51560_7+51611delGGGAGGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGA	RORB	ENSG00000198963.11	transcript	ENST00000376896.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
RPH3AL_chr17_207389_357807	288349	TCCCTCTC others(45): Show TCCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTC ACA	T T	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03540.hp1 HG03453.hp2 HG03540.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0014 a0001c0001 a0007c0014	a0001c0001t0006 a0007c0014t0018 a0001c0001t0006 a0007c0014t0018	a0001c0001t0006g0072 a0007c0014t0018g0102 a0001c0001t0006g0072 a0007c0014t0018g0102	2	133	0.0150	-52	c.352 others(69): Show c.352-6547_352-6496delTGTGAGGTCTGACGGTGGAGAGAGGGTG CGAGGTCTGACGGTGGAGAGAGGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3A_chr12_112786748_112903881	112787452	TCTGATTT others(45): Show TCTGATTTCCTCATCTTGAAAATGGGTAAATAGCACAACACAACCTCCTT TCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0249 a0001c0002t0001g0249	1	266	0.0038	-52	c.-46 others(63): Show c.-4699_-4648delCTGATTTCCTCATCTTGAAAATGGGTAAATAGCA CAACACAACCTCCTTTCA	RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding		4295		chr12	TogoVar
RPS6KA5_chr14_90842861_91065641	90854167	TAATTATA others(45): Show TAATTATAGTGCAAGGAGCCTGATGTATGAAGATTTGACATTGTAATTTA TAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00621.hp2 HG02055.hp1 HG02109.hp1 others(35): Show HG00621.hp2 HG02055.hp1 HG02109.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 NA18906.hp2 NA18941.hp1 NA18950.hp1 NA18990.hp2 NA19043.hp2 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 others(30): Show a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0023 a0001c0001t0024 a0001c0001t0034 a0001c0001t0040 a0001c0001t0044 a0001c0001t0051 a0001c0001t0052 a0001c0001t0064 a0001c0001t0092 a0001c0001t0094 a0001c0001t0095 a0001c0001t0134 a0001c0001t0147 a0001c0001t0148 a0001c0001t0149 a0001c0001t0150 a0001c0001t0157 a0001c0001t0158 a0001c0001t0163 a0001c0001t0164 a0001c0001t0169 a0001c0001t0170 a0001c0001t0175 a0001c0001t0200 a0001c0001t0239 a0001c0001t0240 a0001c0001t0241 a0001c0001t0242 a0001c0001t0243 a0001c0001t0244	a0001c0001t0013g0011 a0001c0001t0013g0013 a0001c0001t0014g0199 others(35): Show a0001c0001t0013g0011 a0001c0001t0013g0013 a0001c0001t0014g0199 a0001c0001t0014g0209 a0001c0001t0016g0038 a0001c0001t0016g0061 a0001c0001t0023g0147 a0001c0001t0023g0156 a0001c0001t0024g0057 a0001c0001t0024g0058 a0001c0001t0034g0001 a0001c0001t0040g0024 a0001c0001t0044g0198 a0001c0001t0051g0140 a0001c0001t0052g0014 a0001c0001t0064g0210 a0001c0001t0092g0108 a0001c0001t0094g0036 a0001c0001t0095g0272 a0001c0001t0134g0193 a0001c0001t0147g0052 a0001c0001t0148g0200 a0001c0001t0149g0056 a0001c0001t0150g0055 a0001c0001t0157g0195 a0001c0001t0158g0144 a0001c0001t0163g0054 a0001c0001t0164g0051 a0001c0001t0169g0018 a0001c0001t0170g0219 a0001c0001t0175g0297 a0001c0001t0200g0277 a0001c0001t0239g0039 a0001c0001t0240g0040 a0001c0001t0241g0041 a0001c0001t0242g0017 a0001c0001t0243g0221 a0001c0001t0244g0220	38	306	0.1242	-52	c.17 others(65): Show c.17855_*17906delTTATAAATTACAATGTCAAATCTTCATACATC AGGCTCCTTGCACTATAATT	RPS6KA5	ENSG00000100784.12	transcript	ENST00000614987.5	protein_coding	17/17	17855		chr14	TogoVar
RPTOR_chr17_80539838_80971368	80565543	AGGAGGGG others(45): Show AGGAGGGGTTAGAGCCCCAGGGCTGGGAGGCGGAGGGAGGCGTGCACTGC TGT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02280.hp2 HG02451.hp2 others(5): Show HG01496.hp2 HG02280.hp2 HG02451.hp2 HG02683.hp2 HG02809.hp2 HG03130.hp1 HG03453.hp2 HG03654.hp2	a0001 a0001	a0001c0007 a0001c0010 a0001c0027 others(4): Show a0001c0007 a0001c0010 a0001c0027 a0001c0045 a0001c0064 a0001c0068 a0001c0071	a0001c0007t0090 a0001c0010t0009 a0001c0010t0032 others(5): Show a0001c0007t0090 a0001c0010t0009 a0001c0010t0032 a0001c0027t0096 a0001c0045t0091 a0001c0064t0006 a0001c0068t0025 a0001c0071t0088	a0001c0007t0090g0025 a0001c0010t0009g0058 a0001c0010t0032g0059 others(5): Show a0001c0007t0090g0025 a0001c0010t0009g0058 a0001c0010t0032g0059 a0001c0027t0096g0060 a0001c0045t0091g0036 a0001c0064t0006g0106 a0001c0068t0025g0104 a0001c0071t0088g0035	8	196	0.0408	-52	c.162 others(71): Show c.162+19845_162+19896delGTGCACTGCTGTGGAGGGGTTAGAGC CCCAGGGCTGGGAGGCGGAGGGAGGC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	1/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80665471	TCCTTTCC others(45): Show TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCATGTCCTTTCCTTTCCT TTC	T T	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0081 a0001c0008t0081	a0001c0008t0081g0019 a0001c0008t0081g0019	1	196	0.0051	-52	c.348 others(71): Show c.348+21663_348+21714delCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCATGTCCTTTCCTTTCCTTTCC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80681626	CCTTCATG others(45): Show CCTTCATGAGGTGTACGTCTCTTACACCTTCATGAGGTGTACGTCTCTTA CAG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0070 a0001c0070	a0001c0070t0020 a0001c0070t0020	a0001c0070t0020g0003 a0001c0070t0020g0003	1	196	0.0051	-52	c.349 others(71): Show c.349-26163_349-26112delGCTTCATGAGGTGTACGTCTCTTACA CCTTCATGAGGTGTACGTCTCTTACA	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80681761	ATGAGGTG others(45): Show ATGAGGTGTACGTCTCTTACACCTTCATGAGGTGTACGTCTCTTACACCT TCT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02486.hp2 HG02683.hp1 others(2): Show HG01884.hp1 HG02486.hp2 HG02683.hp1 HG03041.hp1 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0009 a0001c0033 others(2): Show a0001c0002 a0001c0009 a0001c0033 a0001c0066 a0001c0072	a0001c0002t0040 a0001c0009t0001 a0001c0033t0023 others(2): Show a0001c0002t0040 a0001c0009t0001 a0001c0033t0023 a0001c0066t0058 a0001c0072t0006	a0001c0002t0040g0105 a0001c0009t0001g0125 a0001c0033t0023g0075 others(2): Show a0001c0002t0040g0105 a0001c0009t0001g0125 a0001c0033t0023g0075 a0001c0066t0058g0126 a0001c0072t0006g0108	5	196	0.0255	-52	c.349 others(71): Show c.349-26073_349-26022delGTACGTCTCTTACACCTTCATGAGGT GTACGTCTCTTACACCTTCTTGAGGT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80887239	GCTCGGGG others(45): Show GCTCGGGGGGTGCGCTGGCTCTGAGGGGGTGTGCTGACTCTGAGGGGTGC CAC	G G	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0060 a0001c0060	a0001c0060t0001 a0001c0060t0001	a0001c0060t0001g0130 a0001c0060t0001g0130	1	196	0.0051	-52	c.198 others(71): Show c.1983+2133_1983+2184delAGGGGTGCCACCTCGGGGGGTGCGCT GGCTCTGAGGGGGTGTGCTGACTCTG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	17/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RSPH14_chr22_23054415_23146990	23130059	AAAAGAAA others(45): Show AAAAGAAAGAAAGAAAGAAAGAAAGGAAGAAAGAAAGAAAGAAAGAAAGA AAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00597.hp2 HG00609.hp2 others(12): Show HG00099.hp1 HG00597.hp2 HG00609.hp2 HG01243.hp2 HG01515.hp1 HG01981.hp2 HG02056.hp1 HG02698.hp2 HG03239.hp2 NA18952.hp1 NA18967.hp2 NA19007.hp1 NA19057.hp1 NA19079.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0182 a0001c0001t0001g0184 others(12): Show a0001c0001t0001g0149 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0220 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0249 a0001c0001t0001g0250	15	314	0.0478	-52	c.421 others(69): Show c.421+3915_421+3966delCTTTCTTTCTTTCTTTCTTTCTTTCTTC CTTTCTTTCTTTCTTTCTTTCTTT	RSPH14	ENSG00000100218.12	transcript	ENST00000216036.9	protein_coding	4/6			chr22	TogoVar
RSU1_chr10_16585611_16822424	16722855	TATATACA others(45): Show TATATACATATATGTATATATACACACATATACATATATGTATATATACA CAC	T T	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0094 a0001c0002t0001g0094	1	190	0.0053	-52	c.599 others(71): Show c.599-27752_599-27701delGTGTGTATATATACATATATGTATAT GTGTGTATATATACATATATGTATAT	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	7/8			chr10	TogoVar
RTN1_chr14_59590983_59875776	59749154	CTATATCT others(45): Show CTATATCTATCTATATATCTATCTATATATCTATCTATATATATCTATAT ATA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0107 a0005c0006t0001g0107	1	172	0.0058	-52	c.242 others(69): Show c.242-2725_242-2674delTATATATAGATATATATAGATAGATATA TAGATAGATATATAGATAGATATA	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RTP3_chr3_46492976_46505950	46505194	CACCTTTT others(45): Show CACCTTTTTTTAAAAAAACTAGAAATGTGAATCCTTCCATTTATGCAATG GAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	426	0.0024	-52	c.42 others(63): Show c.4296_*4347delACCTTTTTTTAAAAAAACTAGAAATGTGAATCCT TCCATTTATGCAATGGAA	RTP3	ENSG00000163825.5	transcript	ENST00000296142.4	protein_coding		4245		chr3	TogoVar
RTP5_chr2_241864729_241878823	241866277	CGGGATGC others(45): Show CGGGATGCTGAGCTGCGCGGGATGCTGAGCTGCGGGGGGATGCTGAGCTG CGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG02109.hp2 HG02145.hp1 others(7): Show HG01099.hp2 HG02109.hp2 HG02145.hp1 HG02486.hp2 HG02723.hp1 HG03098.hp1 HG03130.hp1 HG03540.hp1 NA18522.hp2 NA18906.hp2	a0006 a0007 a0006 a0007	a0006c0006 a0007c0007 a0006c0006 a0007c0007	a0006c0006t0007 a0007c0007t0002 a0007c0007t0006 a0006c0006t0007 a0007c0007t0002 a0007c0007t0006	a0006c0006t0007g0009 a0007c0007t0002g0012 a0007c0007t0006g0012 a0006c0006t0007g0009 a0007c0007t0002g0012 a0007c0007t0006g0012	10	365	0.0274	-52	c.-34 others(63): Show c.-3479_-3428delGGGATGCTGAGCTGCGCGGGATGCTGAGCTGCGG GGGGATGCTGAGCTGCGG	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		3451		chr2	TogoVar
RTP5_chr2_241864729_241878823	241875033	CAATCCAG others(45): Show CAATCCAGGGCCTCGGGGGCCAACTGCAGGGACAAAGGTCCAGGAAAAAC CAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00423.hp2 others(152): Show HG00099.hp1 HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00733.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01106.hp1 HG01167.hp2 HG01175.hp1 HG01243.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01943.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02071.hp2 HG02080.hp1 HG02109.hp1 HG02129.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG04115.hp2 HG04204.hp2 HG06807.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18942.hp2 NA18943.hp1 NA18946.hp1 NA18947.hp1 NA18950.hp1 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18962.hp1 NA18965.hp2 NA18966.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18990.hp1 NA18991.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp2 NA19010.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19240.hp1 NA20300.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0008 a0011 a0013 a0016 a0017 a0019 a0022 a0024 a0025	a0001c0001 a0001c0020 a0001c0023 others(14): Show a0001c0001 a0001c0020 a0001c0023 a0001c0025 a0002c0002 a0003c0003 a0004c0004 a0005c0005 a0008c0008 a0011c0013 a0013c0012 a0016c0028 a0017c0027 a0019c0024 a0022c0018 a0024c0015 a0025c0029	a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 others(27): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 a0001c0001t0017 a0001c0001t0019 a0001c0001t0035 a0001c0020t0002 a0001c0023t0005 a0001c0025t0005 a0002c0002t0001 a0002c0002t0010 a0002c0002t0015 a0002c0002t0036 a0002c0002t0037 a0002c0002t0038 a0003c0003t0002 a0003c0003t0003 a0003c0003t0042 a0004c0004t0001 a0004c0004t0010 a0005c0005t0005 a0008c0008t0006 a0011c0013t0001 a0013c0012t0013 a0016c0028t0001 a0017c0027t0001 a0019c0024t0027 a0022c0018t0040 a0024c0015t0019 a0025c0029t0014	a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0017 others(40): Show a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0017 a0001c0001t0008g0008 a0001c0001t0011g0001 a0001c0001t0017g0001 a0001c0001t0019g0008 a0001c0001t0035g0006 a0001c0020t0002g0001 a0001c0023t0005g0022 a0001c0025t0005g0005 a0002c0002t0001g0002 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0023 a0002c0002t0001g0026 a0002c0002t0010g0002 a0002c0002t0015g0002 a0002c0002t0036g0002 a0002c0002t0037g0002 a0002c0002t0038g0002 a0003c0003t0002g0001 a0003c0003t0002g0010 a0003c0003t0002g0020 a0003c0003t0002g0043 a0003c0003t0003g0001 a0003c0003t0042g0001 a0004c0004t0001g0003 a0004c0004t0001g0016 a0004c0004t0001g0024 a0004c0004t0001g0028 a0004c0004t0001g0031 a0004c0004t0010g0003 a0005c0005t0005g0005 a0008c0008t0006g0011 a0011c0013t0001g0003 a0013c0012t0013g0030 a0016c0028t0001g0003 a0017c0027t0001g0003 a0019c0024t0027g0029 a0022c0018t0040g0001 a0024c0015t0019g0039 a0025c0029t0014g0001	155	365	0.4247	-52	c.17 others(63): Show c.1760_*1811delAATCCAGGGCCTCGGGGGCCAACTGCAGGGACAA AGGTCCAGGAAAAACCAG	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		1211		chr2	TogoVar
RTP5_chr2_241864729_241878823	241875078	AAAACCAG others(45): Show AAAACCAGAATCCAGGCCTCGGGGGCCCAACTGCAGGGATGAGGGTCCAG GAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 NA19030.hp2 HG06807.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0032 a0001c0001t0004 a0001c0001t0032	a0001c0001t0004g0006 a0001c0001t0032g0006 a0001c0001t0004g0006 a0001c0001t0032g0006	2	365	0.0055	-52	c.18 others(63): Show c.1805_*1856delAAACCAGAATCCAGGCCTCGGGGGCCCAACTGCA GGGATGAGGGTCCAGGAG	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		1256		chr2	TogoVar
RUFY1_chr5_179545554_179615012	179577578	TGGGGCTG others(45): Show TGGGGCTGGAGGGGAGGGCGGGGGTGGGGAGTTTCGGCCGAAAGAGCAAA TCC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02630.hp1 HG02922.hp2 others(6): Show HG01243.hp2 HG02630.hp1 HG02922.hp2 HG03139.hp1 HG03225.hp2 HG03486.hp1 NA18522.hp2 NA18906.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0198 a0001c0001t0004g0218 a0001c0001t0004g0219 others(6): Show a0001c0001t0004g0198 a0001c0001t0004g0218 a0001c0001t0004g0219 a0001c0001t0004g0220 a0001c0001t0004g0231 a0001c0001t0004g0232 a0001c0001t0004g0233 a0001c0001t0004g0234 a0001c0001t0004g0235	9	376	0.0239	-52	c.890 others(67): Show c.890+477_890+528delGGCCGAAAGAGCAAATCCGGGGCTGGAGGG GAGGGCGGGGGTGGGGAGTTTC	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
SACS_chr13_23323830_23438702	23416255	CTGGGGGA others(45): Show CTGGGGGACAGAGCCGACTCCATCTCAAAAAAGGAATTCATGAAAAAATG TCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01081.hp2 HG01346.hp1 others(5): Show HG00099.hp1 HG01081.hp2 HG01346.hp1 HG01515.hp2 HG03239.hp2 HG04199.hp1 NA19070.hp2 NA20752.hp1	a0002 a0004 a0015 a0002 a0004 a0015	a0002c0001 a0004c0007 a0015c0027 a0002c0001 a0004c0007 a0015c0027	a0002c0001t0008 a0004c0007t0001 a0015c0027t0001 a0002c0001t0008 a0004c0007t0001 a0015c0027t0001	a0002c0001t0008g0009 a0004c0007t0001g0105 a0004c0007t0001g0108 others(5): Show a0002c0001t0008g0009 a0004c0007t0001g0105 a0004c0007t0001g0108 a0004c0007t0001g0109 a0004c0007t0001g0159 a0004c0007t0001g0188 a0004c0007t0001g0195 a0015c0027t0001g0215	8	378	0.0212	-52	c.-50 others(71): Show c.-501-4567_-501-4516delAGACATTTTTTCATGAATTCCTTTTT TGAGATGGAGTCGGCTCTGTCCCCCA	SACS	ENSG00000151835.17	transcript	ENST00000382292.9	protein_coding	1/9			chr13	TogoVar
SASH1_chr6_148337838_148557044	148387566	CTCTTTCT others(45): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00609.hp2 HG01074.hp2 others(16): Show HG00323.hp1 HG00609.hp2 HG01074.hp2 HG01256.hp2 HG01258.hp1 HG01891.hp2 HG02148.hp2 HG02273.hp1 HG02723.hp2 HG02895.hp1 HG02897.hp1 HG02970.hp1 HG02970.hp2 NA18522.hp2 NA18906.hp1 NA19056.hp1 NA19064.hp2 NA19240.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0009 others(2): Show a0001c0001 a0001c0003 a0001c0009 a0001c0015 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0003t0007 a0001c0003t0012 a0001c0009t0014 a0001c0015t0007 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0008	a0001c0001t0001g0007 a0001c0001t0001g0030 a0001c0001t0001g0038 others(16): Show a0001c0001t0001g0007 a0001c0001t0001g0030 a0001c0001t0001g0038 a0001c0001t0002g0021 a0001c0001t0002g0127 a0001c0001t0002g0146 a0001c0001t0002g0149 a0001c0001t0005g0269 a0001c0001t0007g0304 a0001c0003t0007g0270 a0001c0003t0012g0096 a0001c0003t0012g0136 a0001c0009t0014g0091 a0001c0015t0007g0137 a0002c0002t0001g0104 a0002c0002t0002g0141 a0002c0002t0003g0017 a0002c0002t0004g0282 a0002c0002t0008g0275	19	322	0.0590	-52	c.157 others(69): Show c.157-2493_157-2442delTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTC	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCARA3_chr8_27628902_27678018	27670683	TCTCAGTG others(45): Show TCTCAGTGTGTGTGCGGAGCTTCTCGAAGCTGGCCAGCCCCTTGTTCCCT AAC	T T	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0049 a0002c0002t0004g0049	1	408	0.0025	-52	c.137 others(69): Show c.1370-203_1370-152delCGGAGCTTCTCGAAGCTGGCCAGCCCCT TGTTCCCTAACCTCAGTGTGTGTG	SCARA3	ENSG00000168077.14	transcript	ENST00000301904.4	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
SCHIP1_chr3_159268244_159902359	159704864	TTTTCTTT others(45): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTATTTCT TTC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG02055.hp2 others(3): Show HG01167.hp2 HG01169.hp2 HG02055.hp2 HG02922.hp1 HG03471.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0019 a0001c0001t0001g0072 a0001c0001t0001g0097 others(3): Show a0001c0001t0001g0019 a0001c0001t0001g0072 a0001c0001t0001g0097 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030	6	100	0.0600	-52	c.64- others(69): Show c.64-59554_64-59503delTTTCTTTCTTTCTTTCTTTATTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTC	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCN11A_chr3_38840764_39056944	38963372	TATATATA others(45): Show TATATATATATATATGATGGAGATATATATATATATATATATATATGATG GAG	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01192.hp2 HG01257.hp2 others(8): Show HG00639.hp2 HG01192.hp2 HG01257.hp2 HG02723.hp2 HG03225.hp1 HG03831.hp2 NA18965.hp1 NA19081.hp1 NA19086.hp2 NA20805.hp2 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0004 a0001c0002 a0003c0004	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0003c0004t0001	a0001c0002t0001g0151 a0001c0002t0001g0159 a0001c0002t0001g0160 others(8): Show a0001c0002t0001g0151 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0189 a0001c0002t0001g0239 a0001c0002t0002g0205 a0001c0002t0004g0042 a0003c0004t0001g0206 a0003c0004t0001g0222	11	314	0.0350	-52	c.-27 others(71): Show c.-279-3001_-279-2950delCTCCATCATATATATATATATATATA TATATCTCCATCATATATATATATAT	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	2/29			chr3	TogoVar
SCN1A_chr2_165980813_166133020	166078363	AATTTTTT others(45): Show AATTTTTTTCCTAAATTAATTTTCTTCCATTGTATTTTTTCTCTTCTAAA TAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02257.hp2 HG02559.hp2 others(12): Show HG00140.hp1 HG02257.hp2 HG02559.hp2 HG02622.hp2 HG02818.hp1 HG02886.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG03195.hp1 HG03209.hp1 HG03486.hp2 HG03579.hp1 NA18522.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0006 a0001c0001t0021 a0001c0001t0049 others(1): Show a0001c0001t0006 a0001c0001t0021 a0001c0001t0049 a0001c0011t0006	a0001c0001t0006g0159 a0001c0001t0006g0160 a0001c0001t0006g0286 others(12): Show a0001c0001t0006g0159 a0001c0001t0006g0160 a0001c0001t0006g0286 a0001c0001t0006g0289 a0001c0001t0006g0290 a0001c0001t0006g0292 a0001c0001t0006g0296 a0001c0001t0006g0299 a0001c0001t0006g0331 a0001c0001t0006g0344 a0001c0001t0021g0157 a0001c0001t0021g0158 a0001c0001t0021g0162 a0001c0001t0049g0291 a0001c0011t0006g0298	15	356	0.0421	-52	c.-14 others(69): Show c.-141-614_-141-563delCTATTTAGAAGAGAAAAAATACAATGGA AGAAAATTAATTTAGGAAAAAAAT	SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	2/28			chr2	TogoVar
SCNN1B_chr16_23297302_23386294	23333097	GGAAGGAA others(45): Show GGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGG AAA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG03017.hp1 HG06807.hp1 others(1): Show HG00323.hp1 HG03017.hp1 HG06807.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0052 a0001c0002t0001g0045 a0001c0002t0001g0048 others(1): Show a0001c0001t0001g0052 a0001c0002t0001g0045 a0001c0002t0001g0048 a0001c0003t0001g0292	4	306	0.0131	-52	c.-8- others(69): Show c.-8-15481_-8-15430delGAGGGAGGGAGGGAGGGAGGGAGGGAGG AAGGAAGGAAAGAAGGAAGGAAGG	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1D_chr1_1275436_1297025	1289518	TGCTCCGT others(45): Show TGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTG TCC	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03195.hp2 NA18747.hp1 others(1): Show HG02896.hp2 HG03195.hp2 NA18747.hp1 NA19005.hp1	a0002 a0003 a0008 a0002 a0003 a0008	a0002c0002 a0003c0004 a0008c0007 a0002c0002 a0003c0004 a0008c0007	a0002c0002t0001 a0003c0004t0003 a0008c0007t0004 a0002c0002t0001 a0003c0004t0003 a0008c0007t0004	a0002c0002t0001g0085 a0003c0004t0003g0137 a0003c0004t0003g0148 others(1): Show a0002c0002t0001g0085 a0003c0004t0003g0137 a0003c0004t0003g0148 a0008c0007t0004g0287	4	290	0.0138	-52	c.166 others(69): Show c.1663-752_1663-701delGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCCCTGCTCCGTCCCGTGTCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17			chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289527	CCGTGTCC others(45): Show CCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTC CGT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0007 a0006c0010t0007	a0006c0010t0007g0270 a0006c0010t0007g0270	1	290	0.0035	-52	c.166 others(69): Show c.1663-742_1663-691delGTGTCCCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCCCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289966	CCCCGTGT others(45): Show CCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTC CGT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG03688.hp1 NA18964.hp1 others(5): Show HG00621.hp2 HG03688.hp1 NA18964.hp1 NA18983.hp1 NA18998.hp1 NA19005.hp2 NA19057.hp1 NA19088.hp1	a0002 a0003 a0009 a0002 a0003 a0009	a0002c0002 a0003c0004 a0009c0014 a0002c0002 a0003c0004 a0009c0014	a0002c0002t0001 a0003c0004t0003 a0009c0014t0001 a0002c0002t0001 a0003c0004t0003 a0009c0014t0001	a0002c0002t0001g0031 a0002c0002t0001g0037 a0002c0002t0001g0058 others(5): Show a0002c0002t0001g0031 a0002c0002t0001g0037 a0002c0002t0001g0058 a0002c0002t0001g0096 a0003c0004t0003g0146 a0003c0004t0003g0151 a0003c0004t0003g0154 a0009c0014t0001g0050	8	290	0.0276	-52	c.166 others(69): Show c.1663-295_1663-244delGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCCCTGCTCCGTCCCGTGTCT	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCTR_chr2_119434843_119529483	119444759	ACGTACGA others(45): Show ACGTACGAATATATATACACATATATACGTACGAATATATATACACATAT ATT	A A	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0069 a0001c0002t0004g0069	1	290	0.0035	-52	c.114 others(71): Show c.1140+1948_1140+1999delAATATATGTGTATATATATTCGTACG TATATATGTGTATATATATTCGTACG	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12			chr2	TogoVar
SCT_chr11_621309_632181	631908	CCTCCCAA others(45): Show CCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGAACCCGGCCATTT GGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	411	0.0024	-52	c.-48 others(63): Show c.-4817_-4766delCCCAAATGGCCGGGTTCAGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAG	SCT	ENSG00000070031.4	transcript	ENST00000176195.4	protein_coding		4728		chr11	TogoVar
SCUBE1_chr22_43192280_43348372	43281503	ACCTCCTC others(45): Show ACCTCCTCCTCAGCCACCCTCCTGTCACCTCCCTCAGTCACCCTCCTGTC ACC	A A	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0027 a0002c0002t0002g0027	1	280	0.0036	-52	c.484 others(69): Show c.484+9491_484+9542delGGTGACAGGAGGGTGACTGAGGGAGGTG ACAGGAGGGTGGCTGAGGAGGAGG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SDK1_chr7_3296252_4274000	3676121	ACACCTGG others(45): Show ACACCTGGCTAAATTTTGTATTTTTTTGTGGAGACGGGGTCTCACTATGT TGC	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0019 a0019	a0019c0051 a0019c0051	a0019c0051t0062 a0019c0051t0062	a0019c0051t0062g0019 a0019c0051t0062g0019	1	116	0.0086	-52	c.713 others(71): Show c.713+34070_713+34121delACCTGGCTAAATTTTGTATTTTTTTG TGGAGACGGGGTCTCACTATGTTGCC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK2_chr17_73329384_73649445	73412050	ATACGTAT others(45): Show ATACGTATATGTATATATACGTATATATGTATATGTATATATACGTATAT ATG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00621.hp1 others(53): Show HG00099.hp1 HG00280.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01884.hp1 HG02055.hp1 HG02071.hp1 HG02083.hp1 HG02083.hp2 HG02145.hp2 HG02148.hp1 HG02257.hp1 HG02300.hp1 HG02486.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02897.hp1 HG02965.hp1 HG02970.hp2 HG03041.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03579.hp2 HG03704.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04184.hp1 HG04228.hp1 HG06807.hp1 NA18961.hp1 NA18993.hp1 NA19010.hp2 NA19080.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0005 a0007 a0015 a0022 a0024 a0027	a0001c0002 a0001c0003 a0001c0005 others(32): Show a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0010 a0001c0013 a0001c0015 a0001c0016 a0001c0032 a0001c0036 a0001c0046 a0001c0048 a0001c0064 a0001c0070 a0001c0071 a0001c0094 a0001c0098 a0001c0110 a0001c0111 a0002c0030 a0002c0060 a0002c0061 a0002c0102 a0002c0103 a0002c0104 a0004c0049 a0004c0095 a0005c0038 a0005c0075 a0007c0019 a0015c0106 a0022c0092 a0024c0087 a0027c0076	a0001c0002t0004 a0001c0002t0041 a0001c0002t0096 others(51): Show a0001c0002t0004 a0001c0002t0041 a0001c0002t0096 a0001c0003t0002 a0001c0003t0011 a0001c0003t0020 a0001c0003t0090 a0001c0005t0017 a0001c0006t0002 a0001c0006t0010 a0001c0006t0014 a0001c0006t0018 a0001c0006t0020 a0001c0006t0029 a0001c0007t0002 a0001c0007t0003 a0001c0007t0013 a0001c0010t0001 a0001c0013t0002 a0001c0013t0013 a0001c0013t0100 a0001c0013t0101 a0001c0015t0012 a0001c0015t0030 a0001c0016t0028 a0001c0016t0080 a0001c0032t0001 a0001c0036t0029 a0001c0046t0093 a0001c0048t0073 a0001c0064t0031 a0001c0070t0083 a0001c0071t0071 a0001c0094t0005 a0001c0098t0077 a0001c0110t0002 a0001c0111t0001 a0002c0030t0015 a0002c0030t0072 a0002c0060t0021 a0002c0061t0002 a0002c0102t0021 a0002c0103t0097 a0002c0104t0003 a0004c0049t0002 a0004c0095t0037 a0005c0038t0007 a0005c0075t0020 a0007c0019t0027 a0007c0019t0075 a0015c0106t0012 a0022c0092t0007 a0024c0087t0014 a0027c0076t0034	a0001c0002t0004g0038 a0001c0002t0041g0022 a0001c0002t0096g0123 others(53): Show a0001c0002t0004g0038 a0001c0002t0041g0022 a0001c0002t0096g0123 a0001c0003t0002g0075 a0001c0003t0011g0067 a0001c0003t0020g0155 a0001c0003t0090g0132 a0001c0005t0017g0105 a0001c0006t0002g0077 a0001c0006t0010g0131 a0001c0006t0014g0201 a0001c0006t0018g0109 a0001c0006t0020g0202 a0001c0006t0029g0141 a0001c0007t0002g0043 a0001c0007t0003g0014 a0001c0007t0003g0026 a0001c0007t0003g0028 a0001c0007t0013g0091 a0001c0010t0001g0036 a0001c0013t0002g0198 a0001c0013t0013g0195 a0001c0013t0100g0010 a0001c0013t0101g0135 a0001c0015t0012g0073 a0001c0015t0030g0129 a0001c0016t0028g0009 a0001c0016t0080g0165 a0001c0032t0001g0136 a0001c0036t0029g0122 a0001c0046t0093g0044 a0001c0048t0073g0108 a0001c0064t0031g0160 a0001c0070t0083g0005 a0001c0071t0071g0092 a0001c0094t0005g0089 a0001c0098t0077g0098 a0001c0110t0002g0119 a0001c0111t0001g0203 a0002c0030t0015g0094 a0002c0030t0072g0095 a0002c0060t0021g0143 a0002c0061t0002g0158 a0002c0102t0021g0054 a0002c0103t0097g0163 a0002c0104t0003g0196 a0004c0049t0002g0169 a0004c0095t0037g0061 a0005c0038t0007g0052 a0005c0075t0020g0007 a0007c0019t0027g0004 a0007c0019t0075g0017 a0015c0106t0012g0099 a0022c0092t0007g0114 a0024c0087t0014g0064 a0027c0076t0034g0020	56	204	0.2745	-52	c.248 others(71): Show c.2484+2542_2484+2593delCATATATACGTATATATACATATACA TATATACGTATATATACATATACGTA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	18/44			chr17	TogoVar
SEBOX_chr17_28358506_28370199	28369992	CACTGGCA others(45): Show CACTGGCACTTCTTGTCCACGTTGAAGCCCTCAGTGCAGCGGCCCTTGCA TGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	386	0.0026	-52	c.-48 others(63): Show c.-4893_-4842delTCATGCAAGGGCCGCTGCACTGAGGGCTTCAACG TGGACAAGAAGTGCCAGT	SEBOX	ENSG00000274529.6	transcript	ENST00000536498.6	protein_coding		4794		chr17	TogoVar
SEC14L1_chr17_77135969_77222101	77215786	TTCGTAGG others(45): Show TTCGTAGGTAGGGTTCGTAGGTAGGGCTGGTAGGTAGGGTTAGTAGGTAG GGC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp2 HG02559.hp1 HG00639.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0009 a0001c0001t0032g0009	2	430	0.0047	-52	c.17 others(63): Show c.1765_*1816delCGTAGGTAGGGTTCGTAGGTAGGGCTGGTAGGTA GGGTTAGTAGGTAGGGCT	SEC14L1	ENSG00000129657.16	transcript	ENST00000436233.9	protein_coding	17/17	1765	INFO_REALIGN_3_PRIME	chr17	TogoVar
SEC14L1_chr17_77135969_77222101	77216175	AGTAGGTA others(45): Show AGTAGGTAGGGTTAGTAGGTAGGGCTAGTAGGTAGGGCTAGTAGGTAGGG TTC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02258.hp2 HG02896.hp2 HG03195.hp2 others(1): Show HG02258.hp2 HG02896.hp2 HG03195.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0045 a0001c0001t0017 a0001c0001t0045	a0001c0001t0017g0159 a0001c0001t0017g0160 a0001c0001t0017g0161 others(1): Show a0001c0001t0017g0159 a0001c0001t0017g0160 a0001c0001t0017g0161 a0001c0001t0045g0116	4	430	0.0093	-52	c.21 others(63): Show c.2165_*2216delAGTAGGTAGGGCTAGTAGGTAGGGCTAGTAGGTA GGGTTCGTAGGTAGGGTT	SEC14L1	ENSG00000129657.16	transcript	ENST00000436233.9	protein_coding	17/17	2165	INFO_REALIGN_3_PRIME	chr17	TogoVar
SEMA3G_chr3_52428035_52450103	52444702	AAACTCGG others(45): Show AAACTCGGCACACGCACACAAACACGGCACACGCAAACTCGGCACACGCA CAC	A A	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0033 a0001c0003t0004g0033	1	310	0.0032	-52	c.115 others(67): Show c.115+159_115+210delGTGTGCGTGTGCCGAGTTTGCGTGTGCCGT GTTTGTGTGCGTGTGCCGAGTT	SEMA3G	ENSG00000010319.7	transcript	ENST00000231721.7	protein_coding	1/15			chr3	TogoVar
SENP3_chr17_7556919_7576969	7571860	TATATATA others(45): Show TATATATATATATATATATATATATATATATATATATATATATATATATA AAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01192.hp2 HG02148.hp2 NA20752.hp1 others(1): Show HG01192.hp2 HG02148.hp2 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0006 a0001c0001t0032g0025 a0001c0001t0032g0042 a0001c0001t0032g0006 a0001c0001t0032g0025 a0001c0001t0032g0042	4	446	0.0090	-52	c.38 others(61): Show c.385_*436delTATATATATATATATATATATATATATATATATATA TATATAAAAATATATA	SENP3	ENSG00000161956.14	transcript	ENST00000321337.12	protein_coding	11/11	385	INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN7_chr7_35796057_35912110	35838278	TTCCTTCC others(45): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCT CCC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA18954.hp1 NA18981.hp1 others(1): Show HG02622.hp2 NA18954.hp1 NA18981.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0040 a0001c0001t0002g0140 a0001c0001t0002g0150 others(1): Show a0001c0001t0002g0040 a0001c0001t0002g0140 a0001c0001t0002g0150 a0001c0001t0003g0098	4	346	0.0116	-52	c.169 others(69): Show c.169+5382_169+5433delTTCCTTCCTTCCTTCCTTCCTTCCCTCC CTCCCTCCCTCCCTCCCTCCCTCC	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEPTIN7_chr7_35796057_35912110	35838282	TTCCTTCC others(45): Show TTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02027.hp1 HG02071.hp1 others(20): Show HG00597.hp1 HG02027.hp1 HG02071.hp1 HG02083.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02165.hp1 HG02723.hp1 NA18747.hp2 NA18906.hp2 NA18948.hp2 NA18963.hp1 NA18964.hp2 NA18968.hp1 NA18983.hp1 NA18983.hp2 NA19004.hp1 NA19057.hp1 NA19059.hp1 NA19062.hp1 NA19064.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0007 a0001c0001t0014 others(4): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0014 a0001c0001t0027 a0001c0001t0029 a0001c0001t0032 a0001c0002t0001	a0001c0001t0002g0071 a0001c0001t0002g0122 a0001c0001t0002g0126 others(20): Show a0001c0001t0002g0071 a0001c0001t0002g0122 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0007g0132 a0001c0001t0007g0147 a0001c0001t0007g0163 a0001c0001t0014g0105 a0001c0001t0014g0130 a0001c0001t0014g0165 a0001c0001t0027g0145 a0001c0001t0029g0036 a0001c0001t0032g0158 a0001c0002t0001g0301	23	346	0.0665	-52	c.169 others(69): Show c.169+5386_169+5437delTTCCTTCCTTCCTTCCTTCCCTCCCTCC CTCCCTCCCTCCCTCCCTCCCTCC	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEPTIN7_chr7_35796057_35912110	35838286	TTCCTTCC others(45): Show TTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCC	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0160 a0001c0001t0002g0160	1	346	0.0029	-52	c.169 others(69): Show c.169+5390_169+5441delTTCCTTCCTTCCTTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTCCCTCC	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEPTIN7_chr7_35796057_35912110	35838290	TTCCTTCC others(45): Show TTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0015 a0001c0001t0008g0015	1	346	0.0029	-52	c.169 others(69): Show c.169+5394_169+5445delTTCCTTCCTTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTCCCTCC	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEPTIN7_chr7_35796057_35912110	35838294	TTCCTTCC others(45): Show TTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCC	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0045 a0001c0001t0013g0045	1	346	0.0029	-52	c.169 others(69): Show c.169+5398_169+5449delTTCCTTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTCCCTCC	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SGCZ_chr8_14079845_15243431	14551446	ATATATAT others(45): Show ATATATATATTATATATATTATATATATTATATATTATATATATTATATA TAT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0008 a0001c0001t0045g0008	1	102	0.0098	-52	c.234 others(69): Show c.234+3234_234+3285delATATATATAATATATATAATATATAATA TATATAATATATATAATATATATA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	2/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14551473	TTATATAT others(45): Show TTATATATTATATATATTATATATATTATATATATTATATATATTATATA TAA	T T	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0015 a0001c0001t0021g0015	1	102	0.0098	-52	c.234 others(69): Show c.234+3207_234+3258delTTATATATAATATATATAATATATATAA TATATATAATATATATAATATATA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	2/7			chr8	TogoVar
SGIP1_chr1_66529153_66756139	66736402	ATTATATG others(45): Show ATTATATGTGAATATAATATATTGCGTATTATATGTGAATATAATATATT GCG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG06807.hp1 HG02976.hp1 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0036 a0002c0002t0037 a0001c0001t0036 a0002c0002t0037	a0001c0001t0036g0238 a0002c0002t0037g0111 a0001c0001t0036g0238 a0002c0002t0037g0111	2	302	0.0066	-52	c.203 others(71): Show c.2031+2524_2031+2575delTATATGTGAATATAATATATTGCGTA TTATATGTGAATATAATATATTGCGT	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	21/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SH2D4A_chr8_19308693_19401218	19322648	GCTCTGTC others(45): Show GCTCTGTCTCCCAAGCTGCAGTGCAGTGGTGTGAGATTTCAACTCACTGC AAC	G G	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0050 a0001c0001t0004g0050	1	354	0.0028	-52	c.181 others(69): Show c.181+2932_181+2983delAAGCTGCAGTGCAGTGGTGTGAGATTTC AACTCACTGCAACCTCTGTCTCCC	SH2D4A	ENSG00000104611.12	transcript	ENST00000265807.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr8	TogoVar
SH2D4A_chr8_19308693_19401218	19322706	TCTCCCTA others(45): Show TCTCCCTAGCTGCAGTGCAGTGGTGTGACATTTCAACTCACTGCAACCTC TGC	T T	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA19043.hp2 HG03540.hp2 NA19043.hp2	a0002 a0009 a0002 a0009	a0002c0004 a0009c0021 a0002c0004 a0009c0021	a0002c0004t0003 a0009c0021t0019 a0002c0004t0003 a0009c0021t0019	a0002c0004t0003g0268 a0009c0021t0019g0269 a0002c0004t0003g0268 a0009c0021t0019g0269	2	354	0.0057	-52	c.181 others(69): Show c.181+2984_181+3035delTAGCTGCAGTGCAGTGGTGTGACATTTC AACTCACTGCAACCTCTGCCTCCC	SH2D4A	ENSG00000104611.12	transcript	ENST00000265807.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr8	TogoVar
SH3PXD2B_chr5_172328499_172459525	172348642	CTATCTAT others(45): Show CTATCTATCTATCCTATCTATCTATCTATCTATCTATCTATCTATCTATC TAT	C C	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0119 a0001c0002t0002g0119	1	280	0.0036	-52	c.101 others(71): Show c.1013-1362_1013-1311delATAGATAGATAGATAGATAGATAGAT AGATAGATAGATAGGATAGATAGATA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	10/12			chr5	TogoVar
SH3PXD2B_chr5_172328499_172459525	172368462	TATATATT others(45): Show TATATATTATATATATATATAAAATATATATATATTATATATATATATAT AAA	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00621.hp1 HG02698.hp1 others(12): Show HG00609.hp2 HG00621.hp1 HG02698.hp1 HG03195.hp2 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03927.hp2 HG04184.hp2 HG04204.hp1 NA18747.hp1 NA18984.hp2 NA18998.hp2 NA20905.hp1 NA20905.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0016 a0001c0001 a0009c0016	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0020 a0001c0001t0058 a0001c0001t0062 a0009c0016t0001	a0001c0001t0001g0054 a0001c0001t0001g0125 a0001c0001t0001g0126 others(12): Show a0001c0001t0001g0054 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0006g0027 a0001c0001t0008g0122 a0001c0001t0008g0129 a0001c0001t0008g0130 a0001c0001t0008g0131 a0001c0001t0020g0128 a0001c0001t0058g0180 a0001c0001t0062g0166 a0009c0016t0001g0181	15	280	0.0536	-52	c.427 others(69): Show c.427+5276_427+5327delTTTATATATATATATATAATATATATAT ATTTTATATATATATATAATATAT	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	6/12			chr5	TogoVar

Search by Variant

Search

Search Results