Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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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
RNF169_chr11_74743849_74847413	74785160	TATATATA others(30): Show TATATATATATATGATATATATATATGATATATATATG	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02572.hp2 HG02647.hp2 others(7): Show HG02451.hp2 HG02572.hp2 HG02647.hp2 HG02723.hp2 HG02886.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03139.hp2 NA19030.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0006 a0004c0004 a0001c0001 a0001c0006 a0004c0004	a0001c0001t0011 a0001c0001t0045 a0001c0006t0044 others(1): Show a0001c0001t0011 a0001c0001t0045 a0001c0006t0044 a0004c0004t0024	a0001c0001t0011g0007 a0001c0001t0011g0123 a0001c0001t0011g0134 others(6): Show a0001c0001t0011g0007 a0001c0001t0011g0123 a0001c0001t0011g0134 a0001c0001t0011g0136 a0001c0001t0011g0138 a0001c0001t0045g0135 a0001c0006t0044g0121 a0004c0004t0024g0122 a0004c0004t0024g0126	10	354	0.0283	-37	c.503 others(54): Show c.503-4442_503-4406delATGATATATATATGATATATATATATGA TATATATAT	RNF169	ENSG00000166439.6	transcript	ENST00000299563.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr11	TogoVar
RNF175_chr4_153705160_153765024	153746432	TCCGTAGC others(30): Show TCCGTAGCTCTCCTAGGCTGGAGTTGCATGCTGCATGC	T T	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0162 a0002c0002t0001g0162	1	394	0.0025	-37	c.246 others(54): Show c.246+2176_246+2212delGCATGCAGCATGCAACTCCAGCCTAGGA GAGCTACGG	RNF175	ENSG00000145428.15	transcript	ENST00000347063.9	protein_coding	3/8			chr4	TogoVar
RNF175_chr4_153705160_153765024	153746556	TAGGCTGG others(30): Show TAGGCTGGAGTTGCATGCTGCATGCCCATAGCTCTCCG	T T	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0162 a0002c0002t0001g0162	1	394	0.0025	-37	c.246 others(54): Show c.246+2052_246+2088delCGGAGAGCTATGGGCATGCAGCATGCAA CTCCAGCCT	RNF175	ENSG00000145428.15	transcript	ENST00000347063.9	protein_coding	3/8			chr4	TogoVar
RNF213_chr17_80255852_80403794	80355563	AGGAAGAA others(30): Show AGGAAGAAGCGGGGTGAGTGGGAATGGGGGCTTACAGG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG04204.hp2 HG00738.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0094 a0001c0001 a0001c0094	a0001c0001t0001 a0001c0094t0001 a0001c0001t0001 a0001c0094t0001	a0001c0001t0001g0128 a0001c0094t0001g0162 a0001c0001t0001g0128 a0001c0094t0001g0162	2	292	0.0069	-37	c.108 others(58): Show c.10862+1040_10862+1076delAGTGGGAATGGGGGCTTACAGGGG AAGAAGCGGGGTG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80355692	CCGGGAAT others(30): Show CCGGGAATGGGGGCTTACAGAGGAAGAAGCGGGGTGGA	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02630.hp2 HG00673.hp1 HG02630.hp2	a0001 a0030 a0001 a0030	a0001c0001 a0030c0112 a0001c0001 a0030c0112	a0001c0001t0002 a0030c0112t0079 a0001c0001t0002 a0030c0112t0079	a0001c0001t0002g0153 a0030c0112t0079g0276 a0001c0001t0002g0153 a0030c0112t0079g0276	2	292	0.0069	-37	c.108 others(58): Show c.10862+1131_10862+1167delTACAGAGGAAGAAGCGGGGTGGAC GGGAATGGGGGCT	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80355707	TACAGAGG others(30): Show TACAGAGGAAGAAGCGGGGTGGACGGGAATGGGGGCTC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0037 a0037	a0037c0145 a0037c0145	a0037c0145t0035 a0037c0145t0035	a0037c0145t0035g0174 a0037c0145t0035g0174	1	292	0.0034	-37	c.108 others(58): Show c.10862+1134_10862+1170delAGAGGAAGAAGCGGGGTGGACGGG AATGGGGGCTCAC	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF4_chr4_2464106_2520857	2470882	AAATGCCA others(30): Show AAATGCCAGCCATTTTTCCAACAGCATGTGCTCACTTT	A A	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	378	0.0027	-37	c.-15 others(56): Show c.-158+1625_-158+1661delAATGCCAGCCATTTTTCCAACAGCAT GTGCTCACTTT	RNF4	ENSG00000063978.17	transcript	ENST00000314289.13	protein_coding	1/7			chr4	TogoVar
RNFT2_chr12_116733315_116858631	116841844	TAAATATA others(30): Show TAAATATATATAAAAATATATATATAAATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0065 a0001c0003t0014g0065	1	268	0.0037	-37	c.120 others(56): Show c.1200+5565_1200+5601delATATATATAAAAATATATATATAAAT ATATATATAAA	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
ROBO2_chr3_77035099_77654964	77164973	TCCGGGAG others(30): Show TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCGGCCCTTA	T T	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	160	0.0063	-37	c.388 others(56): Show c.388+66635_388+66671delCGGGAGGTGAGGGGCGCCTCTGCCCG GCGGCCCTTAC	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
RPGRIP1L_chr16_53593153_53708859	53629719	CTAACTCA others(30): Show CTAACTCATGAGTTGGCAATTTTTTTTTCTGTAAAAGG	C C	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0006	a0003c0003t0006g0138 a0003c0003t0006g0138	1	364	0.0028	-37	c.329 others(56): Show c.3294+6683_3294+6719delCCTTTTACAGAAAAAAAAATTGCCAA CTCATGAGTTA	RPGRIP1L	ENSG00000103494.16	transcript	ENST00000647211.2	protein_coding	22/26			chr16	TogoVar
RPH3AL_chr17_207389_357807	233824	GGGGAGCG others(30): Show GGGGAGCGGCTACTTCCCCTGACCAACTTCCCTGAGCA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0131 a0001c0001t0010g0131	1	133	0.0075	-37	c.613 others(56): Show c.613+13250_613+13286delTGCTCAGGGAAGTTGGTCAGGGGAAG TAGCCGCTCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	233900	GGGGAGCG others(30): Show GGGGAGCGGCTACTTACCCTGACCAACTTCCCTGAGCA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02738.hp1 HG01167.hp2 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0002t0002 a0001c0001t0009 a0001c0002t0002	a0001c0001t0009g0094 a0001c0002t0002g0038 a0001c0001t0009g0094 a0001c0002t0002g0038	2	133	0.0150	-37	c.613 others(56): Show c.613+13174_613+13210delTGCTCAGGGAAGTTGGTCAGGGTAAG TAGCCGCTCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	233932	TGAGCAGG others(30): Show TGAGCAGGGAGCGGCTACTTACCCTGACCAACTTCCCC	T T	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	133	0.0075	-37	c.613 others(56): Show c.613+13142_613+13178delGGGGAAGTTGGTCAGGGTAAGTAGCC GCTCCCTGCTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	234378	CGAGCAGG others(30): Show CGAGCAGGGAGCGGCTACTTACCCTGACCAACTTCCCT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0028 a0001c0003t0028	a0001c0003t0028g0088 a0001c0003t0028g0088	1	133	0.0075	-37	c.613 others(56): Show c.613+12696_613+12732delAGGGAAGTTGGTCAGGGTAAGTAGCC GCTCCCTGCTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	250566	TCTTTACT others(30): Show TCTTTACTAAGCTCTATCACTGCGGGACCTCTCAGGGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(41): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG01070.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01358.hp2 HG01496.hp2 HG01515.hp2 HG01884.hp2 HG01978.hp1 HG02055.hp1 HG02071.hp1 HG02080.hp1 HG02135.hp2 HG02572.hp2 HG02622.hp2 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG03017.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG04184.hp1 NA18522.hp2 NA18940.hp1 NA18947.hp1 NA18951.hp1 NA18951.hp2 NA18963.hp2 NA18993.hp1 NA18999.hp1 NA19005.hp1 NA19056.hp1 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0008 a0001 a0005 a0008	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0005c0010 a0008c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0033 a0001c0001t0035 a0001c0002t0001 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009 a0001c0003t0001 a0001c0003t0018 a0001c0003t0036 a0001c0004t0001 a0005c0010t0003 a0008c0013t0003	a0001c0001t0001g0047 a0001c0001t0001g0086 a0001c0001t0001g0089 others(41): Show a0001c0001t0001g0047 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0104 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0133 a0001c0001t0002g0028 a0001c0001t0002g0049 a0001c0001t0002g0069 a0001c0001t0003g0084 a0001c0001t0003g0101 a0001c0001t0004g0087 a0001c0001t0004g0092 a0001c0001t0005g0132 a0001c0001t0006g0072 a0001c0001t0006g0120 a0001c0001t0007g0097 a0001c0001t0009g0066 a0001c0001t0010g0015 a0001c0001t0010g0131 a0001c0001t0013g0108 a0001c0001t0015g0036 a0001c0001t0016g0082 a0001c0001t0016g0093 a0001c0001t0017g0099 a0001c0001t0019g0011 a0001c0001t0019g0012 a0001c0001t0022g0071 a0001c0001t0024g0083 a0001c0001t0025g0076 a0001c0001t0033g0063 a0001c0001t0035g0074 a0001c0002t0001g0057 a0001c0002t0006g0060 a0001c0002t0007g0112 a0001c0002t0009g0126 a0001c0003t0001g0075 a0001c0003t0018g0019 a0001c0003t0036g0064 a0001c0004t0001g0046 a0001c0004t0001g0062 a0005c0010t0003g0085 a0008c0013t0003g0037	44	133	0.3308	-37	c.439 others(54): Show c.439-3318_439-3282delGCCCTGAGAGGTCCCGCAGTGATAGAGC TTAGTAAAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPS3_chr11_75394518_75411907	75409398	TGCTGCCT others(30): Show TGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0001 a0001c0004t0001g0001	1	412	0.0024	-37	c.37 others(48): Show c.3789_*3825delGCTGCCTTCAAGCATCTGTTTAACAAAGCACATC TTG	RPS3	ENSG00000149273.15	transcript	ENST00000531188.6	protein_coding		2492		chr11	TogoVar
RPS6KA5_chr14_90842861_91065641	91056799	TCCTAACC others(30): Show TCCTAACCCATTCTTTGCTAACTTTATACTTGAATATC	T T	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02280.hp2 HG02698.hp1 others(6): Show HG02135.hp1 HG02280.hp2 HG02698.hp1 HG02886.hp2 HG03195.hp2 HG03486.hp1 HG03710.hp2 NA18522.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0095 a0001c0001t0189 others(6): Show a0001c0001t0011 a0001c0001t0095 a0001c0001t0189 a0001c0001t0190 a0001c0001t0191 a0001c0001t0206 a0001c0001t0229 a0001c0001t0230 a0001c0001t0231	a0001c0001t0011g0223 a0001c0001t0095g0272 a0001c0001t0189g0216 others(6): Show a0001c0001t0011g0223 a0001c0001t0095g0272 a0001c0001t0189g0216 a0001c0001t0190g0213 a0001c0001t0191g0215 a0001c0001t0206g0214 a0001c0001t0229g0224 a0001c0001t0230g0226 a0001c0001t0231g0225	9	306	0.0294	-37	c.103 others(54): Show c.103+3496_103+3532delGATATTCAAGTATAAAGTTAGCAAAGAA TGGGTTAGG	RPS6KA5	ENSG00000100784.12	transcript	ENST00000614987.5	protein_coding	1/16			chr14	TogoVar
RPS6KB1_chr17_59888121_59955574	59909226	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03492.hp2 HG00639.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0172 a0001c0001t0001g0134 a0001c0001t0001g0172	2	304	0.0066	-37	c.142 others(54): Show c.142-1313_142-1277delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	RPS6KB1	ENSG00000108443.14	transcript	ENST00000225577.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80746188	AGGTGATC others(30): Show AGGTGATCCCCACCGCCCCCACAGCGGTGCTTTCTGCG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(78): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00621.hp2 HG00639.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01109.hp1 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01361.hp2 HG01496.hp1 HG01517.hp1 HG01884.hp1 HG01934.hp1 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02129.hp1 HG02129.hp2 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02486.hp1 HG02683.hp1 HG02683.hp2 HG02886.hp2 HG02895.hp1 HG02976.hp2 HG03017.hp2 HG03239.hp2 HG03490.hp2 HG03491.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03831.hp2 NA18747.hp2 NA18906.hp1 NA18944.hp1 NA18944.hp2 NA18963.hp1 NA18963.hp2 NA18980.hp1 NA18980.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19057.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19082.hp1 NA19082.hp2 NA19088.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(40): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0013 a0001c0014 a0001c0015 a0001c0017 a0001c0018 a0001c0019 a0001c0020 a0001c0021 a0001c0022 a0001c0023 a0001c0024 a0001c0026 a0001c0027 a0001c0031 a0001c0032 a0001c0033 a0001c0035 a0001c0037 a0001c0039 a0001c0044 a0001c0049 a0001c0058 a0001c0060 a0001c0061 a0001c0072 a0001c0073 a0001c0076 a0001c0078 a0001c0080 a0001c0081 a0001c0085 a0003c0069 a0004c0082	a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 others(72): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0015 a0001c0001t0019 a0001c0001t0092 a0001c0002t0002 a0001c0002t0008 a0001c0002t0010 a0001c0002t0015 a0001c0002t0017 a0001c0002t0039 a0001c0002t0040 a0001c0003t0010 a0001c0003t0013 a0001c0003t0014 a0001c0003t0038 a0001c0004t0014 a0001c0004t0023 a0001c0004t0033 a0001c0006t0013 a0001c0006t0022 a0001c0007t0090 a0001c0008t0021 a0001c0008t0054 a0001c0009t0028 a0001c0010t0032 a0001c0011t0047 a0001c0013t0013 a0001c0013t0021 a0001c0013t0089 a0001c0014t0002 a0001c0014t0034 a0001c0015t0046 a0001c0017t0005 a0001c0017t0015 a0001c0018t0009 a0001c0019t0003 a0001c0019t0005 a0001c0019t0042 a0001c0020t0048 a0001c0021t0018 a0001c0021t0079 a0001c0022t0001 a0001c0022t0022 a0001c0023t0002 a0001c0023t0009 a0001c0024t0002 a0001c0024t0003 a0001c0024t0037 a0001c0026t0010 a0001c0026t0043 a0001c0027t0096 a0001c0031t0011 a0001c0032t0033 a0001c0033t0023 a0001c0033t0098 a0001c0035t0010 a0001c0035t0095 a0001c0037t0004 a0001c0039t0061 a0001c0044t0045 a0001c0049t0011 a0001c0058t0004 a0001c0060t0001 a0001c0061t0009 a0001c0072t0006 a0001c0073t0002 a0001c0076t0011 a0001c0078t0041 a0001c0080t0011 a0001c0081t0002 a0001c0085t0003 a0003c0069t0044 a0004c0082t0010	a0001c0001t0002g0038 a0001c0001t0005g0042 a0001c0001t0005g0044 others(78): Show a0001c0001t0002g0038 a0001c0001t0005g0042 a0001c0001t0005g0044 a0001c0001t0005g0046 a0001c0001t0009g0030 a0001c0001t0015g0085 a0001c0001t0019g0050 a0001c0001t0092g0029 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0008g0131 a0001c0002t0010g0064 a0001c0002t0015g0086 a0001c0002t0017g0118 a0001c0002t0039g0088 a0001c0002t0040g0105 a0001c0003t0010g0069 a0001c0003t0013g0043 a0001c0003t0014g0102 a0001c0003t0038g0087 a0001c0004t0014g0081 a0001c0004t0014g0098 a0001c0004t0023g0074 a0001c0004t0033g0023 a0001c0006t0013g0068 a0001c0006t0022g0090 a0001c0007t0090g0025 a0001c0008t0021g0091 a0001c0008t0054g0169 a0001c0009t0028g0113 a0001c0010t0032g0059 a0001c0011t0047g0076 a0001c0013t0013g0065 a0001c0013t0021g0093 a0001c0013t0089g0047 a0001c0014t0002g0032 a0001c0014t0002g0033 a0001c0014t0034g0072 a0001c0015t0046g0079 a0001c0017t0005g0031 a0001c0017t0005g0067 a0001c0017t0015g0082 a0001c0018t0009g0066 a0001c0019t0003g0135 a0001c0019t0005g0037 a0001c0019t0042g0089 a0001c0020t0048g0094 a0001c0021t0018g0014 a0001c0021t0079g0005 a0001c0022t0001g0170 a0001c0022t0022g0095 a0001c0023t0002g0049 a0001c0023t0009g0071 a0001c0024t0002g0048 a0001c0024t0003g0129 a0001c0024t0037g0092 a0001c0026t0010g0045 a0001c0026t0043g0096 a0001c0027t0096g0060 a0001c0031t0011g0073 a0001c0032t0033g0039 a0001c0033t0023g0075 a0001c0033t0098g0026 a0001c0035t0010g0063 a0001c0035t0095g0041 a0001c0037t0004g0145 a0001c0039t0061g0177 a0001c0044t0045g0080 a0001c0049t0011g0078 a0001c0058t0004g0156 a0001c0060t0001g0130 a0001c0061t0009g0040 a0001c0072t0006g0108 a0001c0073t0002g0070 a0001c0076t0011g0084 a0001c0078t0041g0100 a0001c0080t0011g0077 a0001c0081t0002g0022 a0001c0085t0003g0162 a0003c0069t0044g0099 a0004c0082t0010g0052	81	196	0.4133	-37	c.655 others(54): Show c.655-7674_655-7638delGGGTGATCCCCACCGCCCCCACAGCGGT GCTTTCTGC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RRAGD_chr6_89359616_89417273	89408064	CATCTGTT others(30): Show CATCTGTTCCAACTCTTCTGTATTTCCAGGGCCAGAAG	C C	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0243 a0001c0001t0027g0243	1	372	0.0027	-37	c.148 others(54): Show c.148+3745_148+3781delCTTCTGGCCCTGGAAATACAGAAGAGTT GGAACAGAT	RRAGD	ENSG00000025039.15	transcript	ENST00000369415.9	protein_coding	1/6			chr6	TogoVar
RRM1_chr11_4089799_4143932	4137981	TGGCCGGG others(30): Show TGGCCGGGCAGAGGACCTCCTCACTTCCCAGTAGGGGC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02647.hp2 HG02886.hp1 others(2): Show HG01243.hp2 HG02647.hp2 HG02886.hp1 HG02922.hp2 HG03041.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0007 a0001c0003 a0002c0007	a0001c0003t0002 a0001c0003t0004 a0002c0007t0002 a0001c0003t0002 a0001c0003t0004 a0002c0007t0002	a0001c0003t0002g0025 a0001c0003t0002g0093 a0001c0003t0004g0268 others(2): Show a0001c0003t0002g0025 a0001c0003t0002g0093 a0001c0003t0004g0268 a0002c0007t0002g0032 a0002c0007t0002g0033	5	368	0.0136	-37	c.219 others(54): Show c.2191-200_2191-164delACCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGG	RRM1	ENSG00000167325.15	transcript	ENST00000300738.10	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
RRP12_chr10_97351701_97406340	97384338	TGCAGCCT others(30): Show TGCAGCCTGGAGGGAGGCCCTGAGGACCCCCCACCTTG	T T	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0291 a0003c0002t0001g0291	1	400	0.0025	-37	c.120 others(54): Show c.1208+791_1208+827delCAAGGTGGGGGGTCCTCAGGGCCTCCCT CCAGGCTGC	RRP12	ENSG00000052749.14	transcript	ENST00000370992.9	protein_coding	10/33			chr10	TogoVar
RSPRY1_chr16_57181329_57245469	57201304	TCTCCTCA others(30): Show TCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGACG	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02559.hp2 HG02572.hp1 others(3): Show HG02257.hp1 HG02559.hp2 HG02572.hp1 HG02886.hp2 HG03041.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0003 a0001c0001t0001g0030 a0001c0001t0001g0031 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0112 a0001c0001t0001g0123 a0001c0004t0001g0040	6	358	0.0168	-37	c.-15 others(56): Show c.-155-3191_-155-3155delTTCTCAGACGGGGCGGCCGGGCAGAG ACGCTCCTCAC	RSPRY1	ENSG00000159579.14	transcript	ENST00000394420.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
RSRC1_chr3_158105089_158550730	158375984	CTCTCCAC others(30): Show CTCTCCACTGATTTCTGAATTCTCTTTTTAAGGGTGAG	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01243.hp2 HG01255.hp2 others(31): Show HG01175.hp2 HG01243.hp2 HG01255.hp2 HG01891.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02647.hp2 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02965.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp2 NA19240.hp1 NA19240.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0003 a0001c0001 a0005c0003	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(6): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0021 a0001c0001t0022 a0005c0003t0002	a0001c0001t0002g0007 a0001c0001t0002g0020 a0001c0001t0002g0022 others(31): Show a0001c0001t0002g0007 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0095 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0258 a0001c0001t0002g0263 a0001c0001t0004g0249 a0001c0001t0004g0267 a0001c0001t0006g0021 a0001c0001t0006g0025 a0001c0001t0006g0026 a0001c0001t0006g0029 a0001c0001t0006g0036 a0001c0001t0006g0250 a0001c0001t0007g0044 a0001c0001t0007g0276 a0001c0001t0009g0006 a0001c0001t0009g0009 a0001c0001t0009g0010 a0001c0001t0009g0011 a0001c0001t0009g0012 a0001c0001t0009g0034 a0001c0001t0012g0031 a0001c0001t0021g0035 a0001c0001t0022g0008 a0005c0003t0002g0033	34	276	0.1232	-37	c.583 others(56): Show c.583+21095_583+21131delTTCTCTTTTTAAGGGTGAGTCTCCAC TGATTTCTGAA	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RTTN_chr18_69998031_70210687	70102897	TGCCCCGT others(30): Show TGCCCCGTCTGGGAAGTGAGGAGCGCCTCTGCCCGGGC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02630.hp2 HG01891.hp2 HG02630.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0002 a0004c0005t0001 a0004c0005t0002	a0004c0005t0001g0113 a0004c0005t0002g0112 a0004c0005t0001g0113 a0004c0005t0002g0112	2	156	0.0128	-37	c.390 others(56): Show c.3903+6564_3903+6600delGCCCGGGCAGAGGCGCTCCTCACTTC CCAGACGGGGC	RTTN	ENSG00000176225.15	transcript	ENST00000640769.2	protein_coding	28/48			chr18	TogoVar
RUSF1_chr16_31484475_31513391	31512895	GACAGTTA others(30): Show GACAGTTACTACTGTTACTACTTGAGACCGTCATTATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02896.hp2 NA19240.hp1 HG02809.hp2 HG02896.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 a0001c0001t0001 a0001c0001t0007 a0001c0001t0011	a0001c0001t0001g0060 a0001c0001t0007g0069 a0001c0001t0011g0044 a0001c0001t0001g0060 a0001c0001t0007g0069 a0001c0001t0011g0044	3	378	0.0079	-37	c.-45 others(48): Show c.-4559_-4523delTATAATGACGGTCTCAAGTAGTAACAGTAGTAAC TGT	RUSF1	ENSG00000140688.18	transcript	ENST00000327237.7	protein_coding		4505		chr16	TogoVar
RYR1_chr19_38428691_38592564	38584414	TCCTGGCC others(30): Show TCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCACCCAA	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01071.hp2 HG01884.hp2 others(12): Show HG00609.hp1 HG01071.hp2 HG01884.hp2 HG01934.hp1 HG02056.hp1 HG02083.hp2 HG02148.hp1 HG02735.hp1 HG03669.hp1 HG03942.hp2 HG04184.hp1 NA18747.hp2 NA19057.hp2 NA19068.hp2 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0011	a0001c0035 a0001c0065 a0001c0076 others(7): Show a0001c0035 a0001c0065 a0001c0076 a0001c0090 a0002c0012 a0003c0006 a0003c0051 a0003c0064 a0003c0100 a0011c0121	a0001c0035t0001 a0001c0065t0001 a0001c0076t0001 others(7): Show a0001c0035t0001 a0001c0065t0001 a0001c0076t0001 a0001c0090t0001 a0002c0012t0001 a0003c0006t0001 a0003c0051t0003 a0003c0064t0001 a0003c0100t0001 a0011c0121t0001	a0001c0035t0001g0113 a0001c0065t0001g0131 a0001c0076t0001g0164 others(12): Show a0001c0035t0001g0113 a0001c0065t0001g0131 a0001c0076t0001g0164 a0001c0090t0001g0017 a0002c0012t0001g0168 a0002c0012t0001g0171 a0003c0006t0001g0045 a0003c0006t0001g0057 a0003c0006t0001g0114 a0003c0006t0001g0191 a0003c0006t0001g0193 a0003c0051t0003g0036 a0003c0064t0001g0181 a0003c0100t0001g0150 a0011c0121t0001g0086	15	218	0.0688	-37	c.146 others(56): Show c.14647-514_14647-478delCTCTGCCTGTGCCCCCCACCCAACCT GGCCCTGACCC	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	101/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
S1PR4_chr19_3173769_3185332	3174518	CTCATGGG others(30): Show CTCATGGGACGCCTGTGCCCTCATGGGACGCCTGTGTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	1	418	0.0024	-37	c.-42 others(48): Show c.-4274_-4238delTCATGGGACGCCTGTGCCCTCATGGGACGCCTGT GTT	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		4250		chr19	TogoVar
SANBR_chr2_61060871_61129280	61127542	ACCACTGC others(30): Show ACCACTGCAGCGTTTTATGGGGAAGATGCTATGGAATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0268 a0001c0002t0003g0268	1	346	0.0029	-37	c.53 others(48): Show c.5381_*5417delCCACTGCAGCGTTTTATGGGGAAGATGCTATGGA ATT	SANBR	ENSG00000162929.14	transcript	ENST00000402291.6	protein_coding		3263		chr2	TogoVar
SASH1_chr6_148337838_148557044	148387583	TCTTTCTT others(30): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0225 a0001c0001t0034g0225	1	322	0.0031	-37	c.157 others(54): Show c.157-2550_157-2514delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTC	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19			chr6	TogoVar
SBK2_chr19_55523611_55542133	55530501	AGGCCTAG others(30): Show AGGCCTAGTGTGACCTGTGAGGCCTGTGGGTTTAGTGG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03098.hp1 HG02572.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0019 a0001c0001 a0001c0019	a0001c0001t0012 a0001c0019t0035 a0001c0001t0012 a0001c0019t0035	a0001c0001t0012g0147 a0001c0019t0035g0168 a0001c0001t0012g0147 a0001c0019t0035g0168	2	434	0.0046	-37	c.457 others(52): Show c.457-215_457-179delCCACTAAACCCACAGGCCTCACAGGTCACA CTAGGCC	SBK2	ENSG00000187550.9	transcript	ENST00000413299.6	protein_coding	3/3			chr19	TogoVar
SBK2_chr19_55523611_55542133	55530579	TTAGTGTG others(30): Show TTAGTGTGACCCGTGAGGCCTGTGGGTTTAGTGTGGCC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01123.hp2 HG01261.hp1 others(14): Show HG00558.hp2 HG01123.hp2 HG01261.hp1 HG01361.hp1 HG01496.hp1 HG01934.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02056.hp2 HG03225.hp2 HG03516.hp1 NA18984.hp2 NA19030.hp1 NA19058.hp1	a0000 a0001 a0003 a0000 a0001 a0003	a0000c0025 a0001c0001 a0001c0004 others(1): Show a0000c0025 a0001c0001 a0001c0004 a0003c0026	a0000c0025t0004 a0001c0001t0016 a0001c0004t0004 others(3): Show a0000c0025t0004 a0001c0001t0016 a0001c0004t0004 a0001c0004t0010 a0001c0004t0036 a0003c0026t0027	a0000c0025t0004g0131 a0001c0001t0016g0047 a0001c0001t0016g0122 others(8): Show a0000c0025t0004g0131 a0001c0001t0016g0047 a0001c0001t0016g0122 a0001c0004t0004g0007 a0001c0004t0004g0136 a0001c0004t0004g0169 a0001c0004t0004g0198 a0001c0004t0010g0061 a0001c0004t0010g0091 a0001c0004t0036g0263 a0003c0026t0027g0062	17	434	0.0392	-37	c.457 others(52): Show c.457-293_457-257delGGCCACACTAAACCCACAGGCCTCACGGGT CACACTA	SBK2	ENSG00000187550.9	transcript	ENST00000413299.6	protein_coding	3/3			chr19	TogoVar
SBK2_chr19_55523611_55542133	55530758	CGTGAGGC others(30): Show CGTGAGGCCTGTGGGTTTAGTGTGGCCTAGTGTGACCT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0004 a0001c0018t0004	a0001c0018t0004g0229 a0001c0018t0004g0229	1	434	0.0023	-37	c.456 others(52): Show c.456+348_456+384delAGGTCACACTAGGCCACACTAAACCCACAG GCCTCAC	SBK2	ENSG00000187550.9	transcript	ENST00000413299.6	protein_coding	3/3			chr19	TogoVar
SBK2_chr19_55523611_55542133	55537499	GCCCCCAG others(30): Show GCCCCCAGCTTTCCCTCCCTCAGACCCAGGAATCCAGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0017 a0001c0001t0004g0017	1	434	0.0023	-37	c.-48 others(46): Show c.-485_-449delACTGGATTCCTGGGTCTGAGGGAGGGAAAGCTGGGG G	SBK2	ENSG00000187550.9	transcript	ENST00000413299.6	protein_coding		367		chr19	TogoVar
SBK2_chr19_55523611_55542133	55537635	CAGGAATT others(30): Show CAGGAATTCAGGTCTCCAGCCCCTCCTCCCTCAGACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp1 NA18960.hp2 NA18994.hp1 others(3): Show NA18940.hp1 NA18960.hp2 NA18994.hp1 NA19004.hp2 NA19012.hp1 NA19063.hp1	a0002 a0002	a0002c0002 a0002c0012 a0002c0002 a0002c0012	a0002c0002t0003 a0002c0012t0003 a0002c0002t0003 a0002c0012t0003	a0002c0002t0003g0025 a0002c0002t0003g0269 a0002c0002t0003g0270 others(1): Show a0002c0002t0003g0025 a0002c0002t0003g0269 a0002c0002t0003g0270 a0002c0012t0003g0243	6	434	0.0138	-37	c.-62 others(46): Show c.-621_-585delAGGTCTGAGGGAGGAGGGGCTGGAGACCTGAATTCC T	SBK2	ENSG00000187550.9	transcript	ENST00000413299.6	protein_coding		503		chr19	TogoVar
SBK3_chr19_55535656_55550543	55537499	GCCCCCAG others(30): Show GCCCCCAGCTTTCCCTCCCTCAGACCCAGGAATCCAGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0004 a0002c0003t0001g0004	1	438	0.0023	-37	c.33 others(48): Show c.3310_*3346delACTGGATTCCTGGGTCTGAGGGAGGGAAAGCTGG GGG	SBK3	ENSG00000231274.5	transcript	ENST00000612221.1	protein_coding		3156		chr19	TogoVar
SBK3_chr19_55535656_55550543	55537635	CAGGAATT others(30): Show CAGGAATTCAGGTCTCCAGCCCCTCCTCCCTCAGACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp2 NA18994.hp2 NA19004.hp2 others(3): Show NA18960.hp2 NA18994.hp2 NA19004.hp2 NA19012.hp1 NA19063.hp1 NA19078.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0006c0014 a0001c0002 a0006c0014	a0001c0002t0001 a0006c0014t0001 a0001c0002t0001 a0006c0014t0001	a0001c0002t0001g0002 a0001c0002t0001g0031 a0006c0014t0001g0064 a0001c0002t0001g0002 a0001c0002t0001g0031 a0006c0014t0001g0064	6	438	0.0137	-37	c.31 others(48): Show c.3174_*3210delAGGTCTGAGGGAGGAGGGGCTGGAGACCTGAATT CCT	SBK3	ENSG00000231274.5	transcript	ENST00000612221.1	protein_coding		3020		chr19	TogoVar
SBK3_chr19_55535656_55550543	55547051	CCTCCCTC others(30): Show CCTCCCTCAGACCCAGGAGTCCAGGCTCCCAGCCCCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(182): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00544.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02015.hp2 HG02040.hp2 HG02074.hp2 HG02083.hp2 HG02135.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03017.hp1 HG03098.hp1 HG03139.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18906.hp1 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18954.hp1 NA18957.hp1 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp2 NA18973.hp1 NA18979.hp1 NA18985.hp2 NA18989.hp1 NA18994.hp1 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19030.hp1 NA19043.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp2 NA19080.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0007 a0008 a0009	a0001c0001 a0001c0002 a0001c0009 others(6): Show a0001c0001 a0001c0002 a0001c0009 a0001c0013 a0002c0003 a0005c0008 a0007c0012 a0008c0016 a0009c0010	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0009t0001 a0001c0013t0001 a0002c0003t0001 a0005c0008t0001 a0007c0012t0001 a0008c0016t0001 a0009c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(29): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0002g0016 a0001c0002t0001g0002 a0001c0009t0001g0022 a0001c0013t0001g0039 a0002c0003t0001g0004 a0002c0003t0001g0028 a0002c0003t0001g0055 a0002c0003t0001g0056 a0005c0008t0001g0033 a0005c0008t0001g0068 a0007c0012t0001g0045 a0008c0016t0001g0054 a0009c0010t0001g0034	185	438	0.4224	-37	c.-15 others(48): Show c.-1545_-1509delAAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGG GAG	SBK3	ENSG00000231274.5	transcript	ENST00000612221.1	protein_coding		1509		chr19	TogoVar
SBNO2_chr19_1102638_1179268	1110538	TGTTCCCA others(30): Show TGTTCCCACGAGCCCCGAGCCCACCTGGGATGCCCGGC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG04228.hp2 HG02559.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0018 a0001c0001 a0001c0018	a0001c0001t0001 a0001c0018t0001 a0001c0001t0001 a0001c0018t0001	a0001c0001t0001g0023 a0001c0018t0001g0154 a0001c0001t0001g0023 a0001c0018t0001g0154	2	203	0.0099	-37	c.302 others(54): Show c.3028+170_3028+206delGCCGGGCATCCCAGGTGGGCTCGGGGCT CGTGGGAAC	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	26/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1148663	CCCTCCTT others(30): Show CCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCAT	C C	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp2 HG01884.hp1 others(13): Show HG01257.hp1 HG01257.hp2 HG01884.hp1 HG01928.hp2 HG02071.hp1 HG02074.hp1 HG02155.hp2 HG02572.hp2 HG02723.hp1 HG03239.hp2 NA18906.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0001c0013 a0002c0003 a0002c0008	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0001c0013t0001 a0002c0003t0001 a0002c0003t0003 a0002c0003t0004 a0002c0008t0001	a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0065 others(13): Show a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0065 a0001c0001t0001g0090 a0001c0002t0001g0130 a0001c0006t0001g0039 a0001c0006t0001g0180 a0001c0013t0001g0054 a0002c0003t0001g0077 a0002c0003t0001g0078 a0002c0003t0001g0093 a0002c0003t0003g0027 a0002c0003t0004g0119 a0002c0003t0004g0120 a0002c0008t0001g0047 a0002c0008t0001g0091	16	203	0.0788	-37	c.167 others(52): Show c.167+669_167+705delATGGGAAGGGGCGGGAGGTTTTCTGGGGTG AAGGAGG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	3/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1148700	TCCTCCTT others(30): Show TCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCAC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0066 a0001c0002t0001g0066	1	203	0.0049	-37	c.167 others(52): Show c.167+632_167+668delGTGGGAAGGGGCGGGAGGTTTTCTGGGGTG AAGGAGG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	3/31			chr19	TogoVar
SCAF8_chr6_154728416_154839221	154788226	CTGTGTTA others(30): Show CTGTGTTAAAATTGCCTACAGTATGCAGTACAGTGACA	C C	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	282	0.0036	-37	c.321 others(52): Show c.321+207_321+243delTGTTAAAATTGCCTACAGTATGCAGTACAG TGACATG	SCAF8	ENSG00000213079.10	transcript	ENST00000367178.8	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCAPER_chr15_76342904_76910340	76899750	TGTGAGGA others(30): Show TGTGAGGAGCACCTCTGCCCGGCCGCCCCGTCTGGGAA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0013 a0013	a0013c0021 a0013c0021	a0013c0021t0001 a0013c0021t0001	a0013c0021t0001g0197 a0013c0021t0001g0197	1	312	0.0032	-37	c.-60 others(54): Show c.-60+5512_-60+5548delTTCCCAGACGGGGCGGCCGGGCAGAGGT GCTCCTCAC	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	1/31			chr15	TogoVar
SCARF1_chr17_1628858_1650732	1645534	CCGCATCA others(30): Show CCGCATCAGACTCCCACGAGACCCACCTGCTGGCCACA	C C	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA18960.hp1 NA18969.hp2 others(3): Show HG03579.hp2 NA18960.hp1 NA18969.hp2 NA18971.hp2 NA18992.hp2 NA19060.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0013c0042 a0001c0001 a0013c0042	a0001c0001t0001 a0013c0042t0003 a0001c0001t0001 a0013c0042t0003	a0001c0001t0001g0015 a0001c0001t0001g0053 a0001c0001t0001g0054 others(1): Show a0001c0001t0001g0015 a0001c0001t0001g0053 a0001c0001t0001g0054 a0013c0042t0003g0229	6	401	0.0150	-37	c.101 others(50): Show c.101+26_101+62delTGTGGCCAGCAGGTGGGTCTCGTGGGAGTCTG ATGCG	SCARF1	ENSG00000074660.17	transcript	ENST00000263071.9	protein_coding	1/10			chr17	TogoVar
SCART1_chr10_133448945_133474760	133472755	TGAAAGTG others(30): Show TGAAAGTGTGGCGTCTCCCTCCTGAGATCTGGTCAGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	434	0.0023	-37	c.47 others(48): Show c.4788_*4824delGAAAGTGTGGCGTCTCCCTCCTGAGATCTGGTCA GTG	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding		2996		chr10	TogoVar
SCART1_chr10_133448945_133474760	133472792	GGAAAGTG others(30): Show GGAAAGTGTGGCGTCTCCCTCCTGAGATCTGGTCAGTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0023 a0023	a0023c0049 a0023c0049	a0023c0049t0004 a0023c0049t0004	a0023c0049t0004g0169 a0023c0049t0004g0169	1	434	0.0023	-37	c.48 others(48): Show c.4825_*4861delGAAAGTGTGGCGTCTCCCTCCTGAGATCTGGTCA GTT	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding		3033		chr10	TogoVar
SCFD1_chr14_30617319_30740850	30713356	TAAAAACC others(30): Show TAAAAACCAGACAAAAACATACGAAAGAGTTGTCTCTG	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp1 HG02451.hp1 others(10): Show HG02109.hp2 HG02145.hp1 HG02451.hp1 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02922.hp1 HG02976.hp2 HG03098.hp1 HG03516.hp1 HG03516.hp2 HG06807.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(10): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014	13	328	0.0396	-37	c.163 others(56): Show c.1630-2530_1630-2494delAAAAACCAGACAAAAACATACGAAAG AGTTGTCTCTG	SCFD1	ENSG00000092108.22	transcript	ENST00000458591.7	protein_coding	19/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
SCFD2_chr4_52867982_53371061	53256248	CGGGGCAG others(30): Show CGGGGCAGCCGGGCAGAGGCGCTCCTCACATCCCAGAT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01358.hp1 HG02004.hp2 others(23): Show HG00423.hp1 HG01358.hp1 HG02004.hp2 HG02129.hp2 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02647.hp2 HG02818.hp1 HG02897.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03492.hp2 HG03540.hp2 HG03669.hp2 NA18747.hp1 NA18906.hp1 NA18945.hp1 NA18963.hp2 NA18999.hp1 NA19009.hp1 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0009 a0003c0008 a0003c0015	a0001c0001t0001 a0001c0001t0004 a0001c0003t0003 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0003t0003 a0001c0004t0003 a0001c0004t0006 a0001c0004t0007 a0001c0009t0009 a0003c0008t0002 a0003c0008t0008 a0003c0008t0014 a0003c0015t0003	a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 others(23): Show a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0004g0009 a0001c0001t0004g0014 a0001c0003t0003g0007 a0001c0004t0003g0134 a0001c0004t0006g0152 a0001c0004t0006g0155 a0001c0004t0006g0158 a0001c0004t0006g0162 a0001c0004t0007g0150 a0001c0004t0007g0151 a0001c0004t0007g0154 a0001c0009t0009g0153 a0001c0009t0009g0156 a0001c0009t0009g0157 a0003c0008t0002g0146 a0003c0008t0002g0149 a0003c0008t0008g0148 a0003c0008t0014g0145 a0003c0015t0003g0147	26	162	0.1605	-37	c.131 others(58): Show c.1311+17541_1311+17577delATCTGGGATGTGAGGAGCGCCTCT GCCCGGCTGCCCC	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	4/8			chr4	TogoVar
SCGB1C2_chr17_132569_144067	136362	CCCTAACC others(30): Show CCCTAACCCCTAACCCCTAACCCTAACCCTAACCCTAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	402	0.0025	-37	c.-12 others(48): Show c.-1228_-1192delCCTAACCCCTAACCCCTAACCCTAACCCTAACCC TAA	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		1206		chr17	TogoVar
SCML4_chr6_107697154_107829313	107778205	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0075 a0001c0001t0019g0075	1	250	0.0040	-37	c.-59 others(54): Show c.-59-5856_-59-5820delATATATATATATATATATATTTTTTTTT TTTTTTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar

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Search Results (Total: 1847 hits)