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

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
RCOR1_chr14_102587649_102735561	102676507	A A	ACCCCCCC others(165): Show ACCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCAGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCT CCCGGACAGGGCGGCTGGCCGAC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0022 a0001c0001t0003g0022	1	292	0.0034	172	c.362 others(189): Show c.362-5379_362-5378insCCCCCGCCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCTCCCGGACGGGGCAGCTGGCCAGGCGGGGGGCTGATCC CCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCCC	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RCOR1_chr14_102587649_102735561	102676507	A A	ACCCCCCC others(165): Show ACCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCT CCCGGACAGGGCGGCTGGCCGAC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02895.hp1 HG02809.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0031 a0001c0001t0003g0041 a0001c0001t0003g0031 a0001c0001t0003g0041	2	292	0.0069	172	c.362 others(189): Show c.362-5379_362-5378insCCCCCGCCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCC CCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCCC	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RCOR1_chr14_102587649_102735561	102676507	A A	ACCCCCCC others(165): Show ACCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCAGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTC CCGGACAGGGCGGCTGGCCGACC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	292	0.0034	172	c.362 others(189): Show c.362-5379_362-5378insCCCCGCCTCCCTCCCGGACGGGGCAGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCC CCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCCCC	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RCOR1_chr14_102587649_102735561	102676508	C C	CCCCCCCC others(165): Show CCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01928.hp1 HG02109.hp1 others(7): Show HG01884.hp2 HG01928.hp1 HG02109.hp1 HG02293.hp1 HG02818.hp1 HG02922.hp1 HG06807.hp2 NA18994.hp2 NA19000.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007	a0001c0001t0002g0196 a0001c0001t0002g0201 a0001c0001t0002g0210 others(7): Show a0001c0001t0002g0196 a0001c0001t0002g0201 a0001c0001t0002g0210 a0001c0001t0002g0217 a0001c0001t0002g0241 a0001c0001t0005g0004 a0001c0001t0005g0121 a0001c0001t0007g0234 a0001c0001t0007g0235 a0001c0001t0007g0253	10	292	0.0343	172	c.362 others(189): Show c.362-5379_362-5378insCCCCCCCGCCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGAT CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGACCCCCCCC	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RETNLB_chr3_108750638_108762410	108759522	T T	TGTATGTG others(165): Show TGTATGTGTATGCATACATATGTATGTGTATGCATACGTATGTATGTATG TGTATACATACGTATGTATGTATGTGTATACATACGTATGTATGTGTATA CATACGTATGTATGTATGTGTATACATACGTATGTATGTGTATACATACG TATGTATGTATGTGTATACATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	452	0.0022	172	c.-23 others(183): Show c.-2338_-2337insGTATGTATACACATACATACATACGTATGTATAC ACATACATACGTATGTATACACATACATACATACGTATGTATACACATAC ATACGTATGTATACACATACATACATACGTATGTATACACATACATACAT ACGTATGCATACACATACATATGTATGCATACACATAC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2113		chr3	TogoVar
RHBDL3_chr17_32260832_32329659	32310728	T T	CAAAAAAT others(165): Show CAAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTGGTCCCAGCTACTCA GGACGCTGAGGCAGGAGAATGGCTTGAAACTGGGAGGCAGAGCTTGCAGT GAGCCGAGATCACACCACTGCACTTCAGCCTGGGCGACAGAGCGAGACTC CGTCTAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	306	0.0033	172	c.882 others(189): Show c.882+5286_882+5287insCAAAAAATTAGCCAGGCGTGGTGGCGGG CACCTGTGGTCCCAGCTACTCAGGACGCTGAGGCAGGAGAATGGCTTGAA ACTGGGAGGCAGAGCTTGCAGTGAGCCGAGATCACACCACTGCACTTCAG CCTGGGCGACAGAGCGAGACTCCGTCTAAAAATATATATATATA	RHBDL3	ENSG00000141314.13	transcript	ENST00000269051.9	protein_coding	7/8			chr17	TogoVar
RIGI_chr9_32450302_32531196	32463889	C C	CTTTTTTT others(165): Show CTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCA CATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTG CACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCC TCCCCCCTCCCCCGACCCCACCA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00423.hp2 others(193): Show HG00280.hp2 HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03130.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 NA18522.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18970.hp1 NA18970.hp2 NA18974.hp1 NA18974.hp2 NA18981.hp1 NA18981.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18987.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0007 a0009 a0010 a0011	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0002c0004 a0003c0008 a0003c0009 a0003c0021 a0007c0015 a0009c0024 a0010c0017 a0011c0016	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(35): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0001c0001t0020 a0001c0001t0022 a0001c0001t0024 a0001c0001t0027 a0001c0001t0028 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0017 a0001c0002t0018 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0008 a0001c0003t0014 a0001c0003t0019 a0001c0006t0006 a0002c0004t0005 a0002c0004t0008 a0003c0008t0001 a0003c0008t0002 a0003c0008t0003 a0003c0008t0012 a0003c0009t0001 a0003c0009t0003 a0003c0009t0007 a0003c0009t0012 a0003c0009t0025 a0003c0021t0012 a0007c0015t0001 a0009c0024t0015 a0010c0017t0001 a0011c0016t0011	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0012 others(189): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0088 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0149 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0193 a0001c0001t0001g0200 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0230 a0001c0001t0001g0248 a0001c0001t0001g0258 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0003g0042 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0192 a0001c0001t0003g0197 a0001c0001t0003g0204 a0001c0001t0004g0022 a0001c0001t0004g0052 a0001c0001t0004g0086 a0001c0001t0004g0139 a0001c0001t0004g0164 a0001c0001t0004g0169 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0004g0173 a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0004g0182 a0001c0001t0004g0184 a0001c0001t0004g0189 a0001c0001t0004g0190 a0001c0001t0004g0194 a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0001t0004g0198 a0001c0001t0004g0201 a0001c0001t0004g0202 a0001c0001t0004g0206 a0001c0001t0007g0055 a0001c0001t0007g0056 a0001c0001t0007g0107 a0001c0001t0007g0108 a0001c0001t0007g0109 a0001c0001t0011g0157 a0001c0001t0011g0159 a0001c0001t0011g0162 a0001c0001t0011g0163 a0001c0001t0020g0249 a0001c0001t0022g0037 a0001c0001t0024g0158 a0001c0001t0027g0135 a0001c0001t0028g0337 a0001c0002t0002g0043 a0001c0002t0002g0059 a0001c0002t0002g0064 a0001c0002t0002g0092 a0001c0002t0002g0104 a0001c0002t0002g0110 a0001c0002t0002g0126 a0001c0002t0003g0002 a0001c0002t0003g0005 a0001c0002t0003g0024 a0001c0002t0003g0039 a0001c0002t0003g0046 a0001c0002t0003g0047 a0001c0002t0003g0049 a0001c0002t0003g0085 a0001c0002t0003g0087 a0001c0002t0003g0095 a0001c0002t0003g0097 a0001c0002t0003g0119 a0001c0002t0003g0120 a0001c0002t0004g0077 a0001c0002t0017g0009 a0001c0002t0018g0008 a0001c0003t0001g0239 a0001c0003t0002g0209 a0001c0003t0002g0210 a0001c0003t0002g0212 a0001c0003t0002g0213 a0001c0003t0002g0231 a0001c0003t0002g0232 a0001c0003t0002g0233 a0001c0003t0002g0235 a0001c0003t0002g0236 a0001c0003t0002g0238 a0001c0003t0003g0234 a0001c0003t0008g0051 a0001c0003t0014g0211 a0001c0003t0014g0214 a0001c0003t0014g0215 a0001c0003t0019g0237 a0001c0006t0006g0029 a0001c0006t0006g0044 a0001c0006t0006g0054 a0001c0006t0006g0090 a0001c0006t0006g0091 a0001c0006t0006g0178 a0002c0004t0005g0320 a0002c0004t0008g0332 a0003c0008t0001g0240 a0003c0008t0001g0242 a0003c0008t0002g0208 a0003c0008t0002g0218 a0003c0008t0002g0221 a0003c0008t0002g0227 a0003c0008t0002g0228 a0003c0008t0003g0220 a0003c0008t0003g0223 a0003c0008t0003g0241 a0003c0008t0012g0229 a0003c0009t0001g0246 a0003c0009t0003g0219 a0003c0009t0007g0225 a0003c0009t0007g0243 a0003c0009t0012g0245 a0003c0009t0025g0224 a0003c0021t0012g0226 a0007c0015t0001g0186 a0007c0015t0001g0191 a0009c0024t0015g0294 a0010c0017t0001g0073 a0011c0016t0011g0147	196	344	0.5698	172	c.233 others(191): Show c.2337+2400_2337+2401insTGGTGGGGTCGGGGGAGGGGGGAGGG ATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAG CGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGC ACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAA	RIGI	ENSG00000107201.11	transcript	ENST00000379883.3	protein_coding	16/17			chr9	TogoVar
RIGI_chr9_32450302_32531196	32463889	C C	CTTTTTTT others(165): Show CTTTTTTTTTTTTTTTTTTTTTATACTCTAAGTTTTAGGGTACATGTGCA CATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTG CACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCC TCCCCCCTCCCCCGACCCCACCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00639.hp1 others(28): Show HG00099.hp1 HG00140.hp1 HG00639.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG01074.hp1 HG01081.hp2 HG01123.hp2 HG01167.hp1 HG01952.hp2 HG02040.hp2 HG02622.hp1 HG03490.hp1 HG04115.hp2 NA18945.hp1 NA18954.hp1 NA18959.hp2 NA18989.hp1 NA18992.hp2 NA18995.hp1 NA18998.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp2 NA19056.hp1 NA19078.hp2 NA19085.hp1 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0001c0003 a0001c0010 others(2): Show a0001c0002 a0001c0003 a0001c0010 a0004c0005 a0004c0014	a0001c0002t0003 a0001c0002t0015 a0001c0003t0002 others(5): Show a0001c0002t0003 a0001c0002t0015 a0001c0003t0002 a0001c0010t0002 a0004c0005t0001 a0004c0005t0002 a0004c0005t0003 a0004c0014t0001	a0001c0002t0003g0028 a0001c0002t0003g0040 a0001c0002t0003g0111 others(28): Show a0001c0002t0003g0028 a0001c0002t0003g0040 a0001c0002t0003g0111 a0001c0002t0003g0122 a0001c0002t0015g0185 a0001c0003t0002g0015 a0001c0003t0002g0140 a0001c0003t0002g0141 a0001c0003t0002g0143 a0001c0003t0002g0144 a0001c0003t0002g0145 a0001c0010t0002g0142 a0001c0010t0002g0146 a0004c0005t0001g0259 a0004c0005t0002g0260 a0004c0005t0002g0264 a0004c0005t0002g0268 a0004c0005t0002g0269 a0004c0005t0002g0272 a0004c0005t0002g0275 a0004c0005t0002g0276 a0004c0005t0003g0256 a0004c0005t0003g0261 a0004c0005t0003g0265 a0004c0005t0003g0267 a0004c0005t0003g0270 a0004c0005t0003g0271 a0004c0005t0003g0273 a0004c0014t0001g0262 a0004c0014t0001g0266 a0004c0014t0001g0274	31	344	0.0901	172	c.233 others(191): Show c.2337+2400_2337+2401insTGGTGGGGTCGGGGGAGGGGGGAGGG ATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAG CGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGC ACATGTACCCTAAAACTTAGAGTATAAAAAAAAAAAAAAAAAAAAA	RIGI	ENSG00000107201.11	transcript	ENST00000379883.3	protein_coding	16/17			chr9	TogoVar
RIMOC1_chr5_41899344_41926636	41914502	A A	AAACAAAA others(165): Show AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACA AAACAAACAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0041 a0001c0001t0006g0041	1	318	0.0031	172	c.601 others(189): Show c.601+2320_601+2321insACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAACAAAACAAAACAAACAAAACAAAACAAAACA	RIMOC1	ENSG00000205765.10	transcript	ENST00000381647.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
RIPK4_chr21_41734373_41772052	41736022	A A	ACTTCTTC others(165): Show ACTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0092 a0001c0002t0006g0092	1	448	0.0022	172	c.48 others(183): Show c.4815_*4816insAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding		3350		chr21	TogoVar
RIPOR3_chr20_50581108_50696542	50666183	A A	ATTTCTTT others(165): Show ATTTCTTTTCTTTTCTTTTCTTTTTTTCTTTGTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0253 a0002c0002t0002g0253	1	280	0.0036	172	c.3+2 others(187): Show c.3+24942_3+24943insAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAACAAAGAAAAAAAGAAAAGAAAAGAAAAGAAA	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RNF223_chr1_1065967_1079306	1078261	G G	GGGGAGGC others(165): Show GGGGAGGCTGACGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTGATG GGACTCGTGCGGAGGCTGAGGCTATGGGGACTCCGTGCGGGAGGCTGAGG CTATGGGGACTCCGTTGCCGGAGGCTGAGGCTATGGGACTCCGTGGGGAG GCTGAGCTATGGGACTCCGTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	172	c.-42 others(183): Show c.-4256_-4255insGGCACGGAGTCCCATAGCTCAGCCTCCCCACGGA GTCCCATAGCCTCAGCCTCCGGCAACGGAGTCCCCATAGCCTCAGCCTCC CGCACGGAGTCCCCATAGCCTCAGCCTCCGCACGAGTCCCATCAGCCTCA GCCTCCCCCCACGGAGTCCCCATAGCCGTCAGCCTCCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		3956		chr1	TogoVar
RNFT2_chr12_116733315_116858631	116733346	T T	TTAATTTT others(165): Show TTAATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTAC AGGCGCCCGCCACTACGCCCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0014 a0001c0002t0012g0014	1	268	0.0037	172	c.-51 others(183): Show c.-5178_-5177insTAATTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding		4968		chr12	TogoVar
RTN1_chr14_59590983_59875776	59774599	T T	TAAAAACA others(165): Show TAAAAACACATGAAACCAGCGCACCAGCATGGCACATGTATACATATGTA ACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAA AAAAAAAAAAAAAAAAAAGAAAAAGCCTCACCCTGGCTGGGTGTGGTGGC TCACGCCTGAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0071 a0001c0007t0005g0071	1	172	0.0058	172	c.242 others(191): Show c.242-28119_242-28118insTTTTTTTTTTTTTTCAGGCGTGAGCC ACCACACCCAGCCAGGGTGAGGCTTTTTCTTTTTTTTTTTTTTTTTTTTT ATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTAC ATATGTATACATGTGCCATGCTGGTGCGCTGGTTTCATGTGTTTTT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
SCHIP1_chr3_159268244_159902359	159680706	T T	TATATATA others(165): Show TATATATAATATATGTATATATAATATACATATATTATATATGTATATAT ATACATATATAATATATGTATATATATATAATATACATATATTATATATG TATATATATACATATATAATATATGTATATTATATATATATACATATATA ATATATGTATATATATAATATAC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0061 a0001c0002t0001g0061	1	100	0.0100	172	c.64- others(189): Show c.64-83715_64-83714insATATACATATATTATATATGTATATATA TACATATATAATATATGTATATATATATAATATACATATATTATATATGT ATATATATACATATATAATATATGTATATTATATATATATACATATATAA TATATGTATATATATAATATACATATATAATATATGTATATATA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCNN1D_chr1_1275436_1297025	1284173	G G	GTGTTGGG others(165): Show GTGTTGGGTGAGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGG GTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGT GAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGGGGTTGGGTGAGGGGGG TGGGGGGGTTGGGTGAGGGGGGT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0013 a0013	a0013c0042 a0013c0042	a0013c0042t0001 a0013c0042t0001	a0013c0042t0001g0129 a0013c0042t0001g0129	1	290	0.0035	172	c.464 others(185): Show c.464+83_464+84insTGTTGGGTGAGGGGTTGGGGGGGTTGGGTGAG GGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGG GGGGTGGGGTGTTGGGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGG GGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGT	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17			chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289257	T T	TCCGTCCC others(165): Show TCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0112 a0002c0003t0001g0112	1	290	0.0035	172	c.166 others(190): Show c.1663-1000_1663-999insTCTGCCCCGTCCCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289579	T T	TCCCGTGT others(165): Show TCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGT GTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0001 a0005c0016t0001	a0005c0016t0001g0289 a0005c0016t0001g0289	1	290	0.0035	172	c.166 others(189): Show c.1663-684_1663-683insCCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTG CCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCC CGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289633	T T	TCCCCCGT others(165): Show TCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCC CTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	290	0.0035	172	c.166 others(189): Show c.1663-635_1663-634insCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCCCCGTCCCGTGTCCCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289689	T T	TCCCCCGT others(165): Show TCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCATTCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0113 a0002c0003t0004g0113	1	290	0.0035	172	c.166 others(189): Show c.1663-579_1663-578insCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCATTCCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1290090	T T	TCCCCCGT others(165): Show TCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCTCCATTCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0073 a0007c0006t0001g0073	1	290	0.0035	172	c.166 others(189): Show c.1663-178_1663-177insCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCTCCATTCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1290128	C C	CCGTGTCT others(165): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCCCCCGAGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0072 a0007c0006t0001g0072	1	290	0.0035	172	c.166 others(189): Show c.1663-142_1663-141insGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEC14L3_chr22_30454229_30477017	30454536	A A	AATAATAT others(165): Show AATAATATTATTATATATAATCTATAATAATATTATTATATATAATCTAT AATAATATTATTATATATAATCTATAATAATATTATTATATATAATCTAT AATAATATTATTATATATAATCTATAATAATATTATTATATATAATCTAT AATAATATTATTATATATAATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02896.hp2 HG02897.hp1 others(1): Show HG02615.hp1 HG02896.hp2 HG02897.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0002 a0001c0001t0002 a0003c0003t0002	a0001c0001t0002g0031 a0001c0001t0002g0091 a0003c0003t0002g0003 a0001c0001t0002g0031 a0001c0001t0002g0091 a0003c0003t0002g0003	4	454	0.0088	172	c.54 others(183): Show c.5484_*5485insAGATTATATATAATAATATTATTATAGATTATAT ATAATAATATTATTATAGATTATATATAATAATATTATTATAGATTATAT ATAATAATATTATTATAGATTATATATAATAATATTATTATAGATTATAT ATAATAATATTATTATAGATTATATATAATAATATTAT	SEC14L3	ENSG00000100012.12	transcript	ENST00000215812.9	protein_coding		4692		chr22	TogoVar
SEPTIN9_chr17_77276499_77505593	77484894	G G	GGTGATGG others(165): Show GGTGATGGGGCGATGGTGGTGATTGTGATGGTGGTGAAGGGGGTGATGGT GGTGATTGTGATGGTGGTGATGGTGATGGTGGTGATTGTGGTGGTGGTGA TGTGGGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATTGTGATGGGGTGA TGGTAATGTGGGTGATGGTGATT	intron_variant intron_variant	MODIFIER	HG01168.hp2 NA18612.hp1 NA18979.hp1 HG01168.hp2 NA18612.hp1 NA18979.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0001c0001t0003 a0004c0006t0001 a0001c0001t0001 a0001c0001t0003 a0004c0006t0001	a0001c0001t0001g0110 a0001c0001t0003g0062 a0004c0006t0001g0097 a0001c0001t0001g0110 a0001c0001t0003g0062 a0004c0006t0001g0097	3	150	0.0200	172	c.914 others(189): Show c.914-2527_914-2526insATGGGGCGATGGTGGTGATTGTGATGGT GGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGGTGATGGTGATGGTGG TGATTGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATGTGGGTGGTGGTG GTGATTGTGATGGGGTGATGGTAATGTGGGTGATGGTGATTGTG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77484894	G G	GGTGATGG others(165): Show GGTGATGGGGCGATGGTGGTGATTGTGATGGTGGTGAAGGGGGTGATGGT GGTGATTGTGATGGTGGTGATGGTGATGGTGGTGATTGTGGTGGTGGTGA TGTGGGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATTGTGATGGGGTGA TGGTAATGTGGGTGATGGTGATT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01168.hp2 HG02273.hp1 others(2): Show HG01109.hp1 HG01168.hp2 HG02273.hp1 NA18979.hp2 NA19091.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0007 a0001c0001 a0002c0002 a0004c0007	a0001c0001t0001 a0001c0001t0060 a0002c0002t0008 others(1): Show a0001c0001t0001 a0001c0001t0060 a0002c0002t0008 a0004c0007t0001	a0001c0001t0001g0027 a0001c0001t0001g0132 a0001c0001t0060g0151 others(2): Show a0001c0001t0001g0027 a0001c0001t0001g0132 a0001c0001t0060g0151 a0002c0002t0008g0050 a0004c0007t0001g0110	5	158	0.0317	172	c.860 others(189): Show c.860-2527_860-2526insATGGGGCGATGGTGGTGATTGTGATGGT GGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGGTGATGGTGATGGTGG TGATTGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATGTGGGTGGTGGTG GTGATTGTGATGGGGTGATGGTAATGTGGGTGATGGTGATTGTG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SERAC1_chr6_158104519_158173262	158169766	A A	ATATATTA others(165): Show ATATATTATATAATATATAATATACAATATATTATATAATATATAATATA CAATATATTATATATTATATAATATATTGTATATTATATATTATATAATA TATTGTATATTATATATTGTATATTATATAATATATTGTATATTATATAT TGTATATTATATATAATATATTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp2 NA19004.hp2 HG03834.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0129 a0001c0001t0001g0076 a0001c0001t0001g0129	2	366	0.0055	172	c.-16 others(183): Show c.-1629_-1628insCAATATATTATATATAATATACAATATATAATAT ACAATATATTATATAATATACAATATATAATATACAATATATTATATAAT ATATAATATACAATATATTATATAATATATAATATATTGTATATTATATA TTATATAATATATTGTATATTATATATTATATAATATA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1505		chr6	TogoVar
SFSWAP_chr12_131706090_131804738	131792279	A A	ATTCACAG others(165): Show ATTCACAGATCAGTACTGTGTGTGCACCCGTGTGTGTTCACAGACCAGTA CTGTGTGTGCATATGTGTGTGTTCACAGATCAGTACTGTGTGTGCGCCCG TGTGTGTTCACAGATCAGTACTGGTGTGCATGTGTGTGCTCACAGACCAG TACTGTGTGTGCATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01358.hp1 HG01346.hp1 HG01358.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0294 a0001c0002t0001g0298 a0001c0002t0001g0294 a0001c0002t0001g0298	2	318	0.0063	172	c.253 others(191): Show c.2535-4836_2535-4665dupTGTGTGTGTTCACAGATCAGTACTGT GTGTGCGCCCGTGTGTGTTCACAGATCAGTACTGGTGTGCATGTGTGTGC TCACAGACCAGTACTGTGTGTGCATATGTGTGTGTTCACAGATCAGTACT GTGTGTGCACCCGTGTGTGTTCACAGACCAGTACTGTGTGTGCATA	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SGCD_chr5_156322164_156772788	156423193	A A	AATATTAT others(165): Show AATATTATATTTTATTATAATATAATATAATATTATATTTTATTATAATA TAATATAATATAATATTTTATTATAATATAATATTATATTTTATTATAAT ATAATATATTATAATATAATATAATATTGTATTATATTTTATTATAATAT AATATATTATATTTTATTATAAT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0135 a0001c0001t0030g0135	1	150	0.0067	172	c.192 others(191): Show c.192+78548_192+78549insTATATTTTATTATAATATAATATAAT ATAATATTTTATTATAATATAATATTATATTTTATTATAATATAATATAT TATAATATAATATAATATTGTATTATATTTTATTATAATATAATATATTA TATTTTATTATAATATATTATATTTTATTATAATATAATATAATAT	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGIP1_chr1_66529153_66756139	66630904	A A	AAAGAAAG others(165): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGGA GGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	302	0.0033	172	c.75- others(187): Show c.75-2165_75-2164insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAAGAAAG AAAGAAAGAAAGAAAGGAGGGAGGGAGGGAGGGAGGGAGGGA	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGIP1_chr1_66529153_66756139	66630904	A A	AAAGAAGG others(165): Show AAAGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	302	0.0033	172	c.75- others(187): Show c.75-2165_75-2164insAGAAGGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGGAGGGAGGGAGGGAGGGAGGGA	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SHANK1_chr19_50654255_50724802	50678902	G G	GATGGGGA others(165): Show GATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGG TCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGG GGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGT GTGATGGAGAGGGGTCAGGGTGA	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0143 a0001c0002t0003g0143	1	316	0.0032	172	c.257 others(191): Show c.2578-6789_2578-6788insTCACCCTGACCCCTCTCCATCACACT GACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCA TCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCC CTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCAT	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SHANK1_chr19_50654255_50724802	50678994	G G	GATGGGGA others(165): Show GATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGG TCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGG GGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGG GTGATGGGGAGGGGTCAAGATGA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0028 a0001c0004t0028	a0001c0004t0028g0274 a0001c0004t0028g0274	1	316	0.0032	172	c.257 others(191): Show c.2578-6881_2578-6880insTCATCTTGACCCCTCCCCATCACCCT GACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCA TCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCC CTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCAT	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SHISA5_chr3_48462876_48509174	48486239	C C	CATATATT others(165): Show CATATATTATATACTATATATATATTATATATATTATATATTATATACTA TATATATTATATATACTATAGTATATATTATATAATATATATAATATAGT ATATATTATATAATATATACTATATTATATATAGTATATAATACATTATA TGTTATATAACATATAATGTATT	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA18906.hp1 HG03486.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0188 a0001c0001t0001g0172 a0001c0001t0001g0188	2	290	0.0069	172	c.234 others(189): Show c.234-6983_234-6982insAATACATTATATGTTATATAACATATAA TGTATTATATACTATATATAATATAGTATATATTATATAATATATACTAT ATTATATATATTATATAATATATACTATAGTATATATAATATATATAGTA TATAATATATAATATATATAATATATATATAGTATATAATATAT	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5			chr3	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(165): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA19010.hp2 HG00438.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0017 a0001c0001t0016 a0001c0001t0017	a0001c0001t0016g0210 a0001c0001t0017g0021 a0001c0001t0016g0210 a0001c0001t0017g0021	2	214	0.0094	172	c.691 others(191): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTTCCCTTCCCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SKI_chr1_2223319_2315213	2280826	G G	GCCCGAGA others(165): Show GCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAG AAGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAG GCGGTGGTGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGCGG CGGCGATCTTCAGAGAGAGGACA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03139.hp2 HG02559.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0070 a0001c0001t0002 a0001c0001t0070	a0001c0001t0002g0077 a0001c0001t0070g0074 a0001c0001t0002g0077 a0001c0001t0070g0074	2	330	0.0061	172	c.970 others(191): Show c.970-22145_970-22144insGGACAGGCGGCGGCGGCGATCTTCAG AGAGCGGACGCCCGAGAAGACAGGCGGCGGCGGAGATCTTCAGAGAGAGG ATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGATGCCCG AGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACACCCGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2280936	C C	CGATCTTC others(165): Show CGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTT CAGAGAGAGGATGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAG AGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGACGC CCGAGAAGACAGGTGGTGGCGGA	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0081	a0001c0001t0081g0083 a0001c0001t0081g0083	1	330	0.0030	172	c.970 others(191): Show c.970-22029_970-22028insCGGACGCCCGAGAGGACAGGCGGCGG CGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGCGGCGGCGAT CTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATA GAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281148	C C	CGGCGATC others(165): Show CGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGAT CTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGA GAGCGGACGCCCGAGAAGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGA TGCCCGAGAGGACAGGCGGTGGT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0077	1	330	0.0030	172	c.970 others(191): Show c.970-21828_970-21827insCGATCTTCAGAGAGAGGACGCCCGAG AAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAG GCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAAGACAGGCGGCGG CGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281221	A A	AGACAGGT others(165): Show AGACAGGTGGTGGCGGAGATCTTCAGAGAGCGGACGCCCGAGAGGACAGG CGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGT GGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATC TTCAGAGAGAGGATGCCCGAGAG	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0085 a0001c0001t0010g0085	1	330	0.0030	172	c.970 others(191): Show c.970-21751_970-21750insTGGTGGCGGAGATCTTCAGAGAGCGG ACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCG AGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAAGAC AGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281653	A A	AGACAGGC others(165): Show AGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACATG CGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGC GGTGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATC TTCAGAGAGCGGACGCCCGAGAG	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0231 a0001c0001t0083g0231	1	330	0.0030	172	c.970 others(191): Show c.970-21316_970-21315insCGGCGGCGATCTTCAGAGAGAGGACG CCCGAGAAGACATGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGA GGACAGGCGGCGGCGGTGATCTTCAGAGAGCGGACGCCCGAGAGGACAGG CGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282078	C C	CGAGAAGA others(165): Show CGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGG ACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCG GTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGG AGATCTTCAGAGAGAAGACACGT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0247 a0001c0001t0002g0247	1	330	0.0030	172	c.970 others(191): Show c.970-20886_970-20885insCGGCGGCGATCTTCAGAGAGCGGACG CCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGA GGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGG CGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282200	A A	AGGAAGCC others(165): Show AGGAAGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGC CCGAGAAGACATGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAG GACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGC GGCGGCGGCGATCTTCAGAGAGC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0233 a0001c0001t0019g0233	1	330	0.0030	172	c.970 others(191): Show c.970-20775_970-20774insAGCCCGAGAAGACAGGCGGCGGCGGC GATCTTCAGAGAGAGGACGCCCGAGAAGACATGCGGCGGCGGCGATCTTC AGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGC GGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282342	A A	AGACAGGC others(165): Show AGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAGGACATG CGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGC GGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATC TTCAGAGAGAGGATGCCCGAGAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0096 a0001c0001t0010g0096	1	330	0.0030	172	c.970 others(191): Show c.970-20627_970-20626insCGGCGGCGATCTTCAGAGAGAGGACG CCCGAGAGGACATGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGA GGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGG CGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC12A1_chr15_48201302_48309078	48270766	A A	ATATATAC others(165): Show ATATATACTCTAAGTATTATATATTATATACTCCAAAACTGTGTGTGTGT GTGTGTATATATATATATATATATATATATATATATATATTTATACACAC ATATATATACATACACATATATATATACACACACACACAGAGTTTTGGAG TATATAATATATAATACTTAGAG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	266	0.0038	172	c.240 others(191): Show c.2402+1008_2402+1009insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTGTGTATATATATATATATATATATATATATA TATATATTTATACACACATATATATACATACACATATATATATACACACA CACACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A1_chr15_48201302_48309078	48270766	A A	ATATATAT others(165): Show ATATATATACTCTAAGTATTATATATTATATACTCCAAAACTGTGTGTGT GTGTGTGTATATATATATATATATATATATATATATATATTTATACACAC ATATATATACATACACATATATATATACACACACACACAGAGTTTTGGAG TATATAATATATAATACTTAGAG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG03139.hp2 NA19060.hp1 HG01346.hp2 HG03139.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0195 a0001c0001t0001g0212 a0001c0001t0001g0071 a0001c0001t0001g0195 a0001c0001t0001g0212	3	266	0.0113	172	c.240 others(191): Show c.2402+1010_2402+1011insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTGTGTATATATATATATATATATATATATATA TATATTTATACACACATATATATACATACACATATATATATACACACACA CACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATATA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A1_chr15_48201302_48309078	48270766	A A	ATATATAT others(165): Show ATATATATATACTCTAAGTATTATATATTATATACTCCAAAACTGTGTGT GTGTGTGTGTATATATATATATATATATATATATATATATTTATACACAC ATATATATACATACACATATATATATACACACACACACAGAGTTTTGGAG TATATAATATATAATACTTAGAG	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA19079.hp2 NA18970.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0180 a0001c0001t0002g0237 a0001c0001t0002g0180 a0001c0001t0002g0237	2	266	0.0075	172	c.240 others(191): Show c.2402+1012_2402+1013insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTGTGTATATATATATATATATATATATATATA TATTTATACACACATATATATACATACACATATATATATACACACACACA CAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATATATA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A1_chr15_48201302_48309078	48270770	A A	ATATATAT others(165): Show ATATATATACTCTAAGTATTATATATTATATACTCCAAAACTGTGTGTGT GTGTGTATATATATATATATATATGTATATATATATATATTTATACACAC ATATATATACATACACATATATATATACACACACACACAGAGTTTTGGAG TATATAATATATAATACTTAGAG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01934.hp2 HG01496.hp2 HG01934.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0068 a0001c0002t0001g0108 a0001c0002t0001g0068 a0001c0002t0001g0108	2	266	0.0075	172	c.240 others(191): Show c.2402+1014_2402+1015insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTGTATATATATATATATATATGTATATATATA TATATTTATACACACATATATATACATACACATATATATATACACACACA CACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATATA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A7_chr5_1045384_1117063	1071701	G G	GCCCCAGT others(165): Show GCCCCAGTGAGCCCCAGCACACGGCATCACACTTATGCAGCCCCAGTGAG CCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCAGCAC ACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCAGTGAGCCCCCAGCA CACGGCATCACACTTAACGCAGC	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0067 a0002c0008t0002g0067	1	118	0.0085	172	c.224 others(191): Show c.2241+1931_2241+1932insGCTGCGTTAAGTGTGATGCCGTGTGC TGGGGGCTCACTGGGGCTCACTGGGGGCTGCATAAGTGTGATGCCGTGTG CTGGGGCTCACTGGGGGCTGCATAAGTGTGATGCCGTGTGCTGGGGGCTC ACTGGGGCTGCATAAGTGTGATGCCGTGTGCTGGGGCTCACTGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC25A36_chr3_140936836_140985995	140983539	A A	AAAAAAAT others(165): Show AAAAAAATATATATATATATATATATATATATGTGTATATATATATATAT GTATGTATATATATATGTATGTATATATATGTATGTATATATATATATGT ATATATATGTATGTATATATATATATGTATATATATATGTATATATATGT ATATATATATGTATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0035 a0001c0003t0035	a0001c0003t0035g0073 a0001c0003t0035g0073	1	270	0.0037	172	c.70 others(183): Show c.7086_*7087insAAAAAATATATATATATATATATATATATATGTG TATATATATATATATGTATGTATATATATATGTATGTATATATATGTATG TATATATATATATGTATATATATGTATGTATATATATATATGTATATATA TATGTATATATATGTATATATATATGTATATATATATG	SLC25A36	ENSG00000114120.14	transcript	ENST00000324194.12	protein_coding		2545		chr3	TogoVar
SLC27A5_chr19_58493333_58516992	58502462	A A	AACAGAGT others(165): Show AACAGAGTAGTGAGTGAGAAGATGGATGGGTGAACAGTTAGAGTAGTGAG TGAGTGGATGGATGGGTGGACAGTTAGAGTAGTGAGTGAGTAGATGGATG GGTGGACAGTTAGAGTAGTGAGTGAGTAGATGGATGGGTGGACAGAGTAG TGAGTGAGAAGATGGATGTGTGG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	424	0.0024	172	c.105 others(191): Show c.1058-1053_1058-1052insCCACACATCCATCTTCTCACTCACTA CTCTGTCCACCCATCCATCTACTCACTCACTACTCTAACTGTCCACCCAT CCATCTACTCACTCACTACTCTAACTGTCCACCCATCCATCCACTCACTC ACTACTCTAACTGTTCACCCATCCATCTTCTCACTCACTACTCTGT	SLC27A5	ENSG00000083807.10	transcript	ENST00000263093.7	protein_coding	3/9			chr19	TogoVar
SLC5A12_chr11_26662020_26727060	26680308	T T	TATATATG others(165): Show TATATATGTATATATATTCATATATATGTATATATATTCATATATATATA TGAATATATATTCATATATATATGTATATATATTCATATATATATGTATA TATATTCATATATATGTATATATATTCATATATATATATGTATATATATT CATATATATATGTATATATATTC	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0295 a0001c0003t0001g0295	1	412	0.0024	172	c.147 others(189): Show c.1475+746_1475+747insGAATATATATACATATATATATGAATAT ATATACATATATATATATGAATATATATACATATATATGAATATATATAC ATATATATATGAATATATATACATATATATATGAATATATATTCATATAT ATATATGAATATATATACATATATATGAATATATATACATATAT	SLC5A12	ENSG00000148942.15	transcript	ENST00000396005.8	protein_coding	12/14			chr11	TogoVar

Search by Variant

Search

Search Results