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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
RGSL1_chr1_182445146_182565597	182451475	G G	GGATATAC others(102): Show GGATATACGTGATGGTATAGGGAGATAGTGATGAATTCTACCATTGCAGT AGATTCTACCTTTCTTGGCTCACCAAGATTATATGTAAACCAGTTCTTAA TGGATGACTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG00642.hp1 others(27): Show HG00099.hp1 HG00438.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG01099.hp1 HG01123.hp1 HG01175.hp2 HG01192.hp1 HG02004.hp2 HG02074.hp2 HG02129.hp2 HG02165.hp1 HG02572.hp1 HG02698.hp1 HG03017.hp1 NA18939.hp1 NA18962.hp1 NA18965.hp2 NA18970.hp1 NA18977.hp2 NA18989.hp1 NA19000.hp1 NA19006.hp2 NA19056.hp1 NA19074.hp2 NA19086.hp2 NA19089.hp1 NA20752.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0004 a0002c0002 others(2): Show a0001c0001 a0001c0004 a0002c0002 a0003c0003 a0007c0018	a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 a0003c0003t0001 a0003c0003t0002 a0007c0018t0001	a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0296 others(27): Show a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0320 a0001c0004t0001g0192 a0001c0004t0001g0312 a0001c0004t0001g0314 a0001c0004t0001g0315 a0001c0004t0001g0316 a0001c0004t0001g0317 a0001c0004t0001g0318 a0001c0004t0001g0319 a0001c0004t0001g0325 a0002c0002t0001g0300 a0002c0002t0001g0313 a0003c0003t0001g0295 a0003c0003t0002g0310 a0007c0018t0001g0298	30	338	0.0888	109	c.13+ others(124): Show c.13+1297_13+1298insGATATACGTGATGGTATAGGGAGATAGTGA TGAATTCTACCATTGCAGTAGATTCTACCTTTCTTGGCTCACCAAGATTA TATGTAAACCAGTTCTTAATGGATGACTA	RGSL1	ENSG00000121446.20	transcript	ENST00000294854.13	protein_coding	1/21			chr1	TogoVar
RHCE_chr1_25357249_25425825	25405592	T T	TGCAATGA others(102): Show TGCAATGAGCTATGATTGTACCACTGGGAAGTAACAAAGGGCACCCTGGG GGATTTCAAATGGTGGTGGCCCTGGTTTGGTGTTGCTGCCAGGTGAGTCC TTAAGCTATA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	334	0.0030	109	c.336 others(126): Show c.336-2847_336-2846insTATAGCTTAAGGACTCACCTGGCAGCAA CACCAAACCAGGGCCACCACCATTTGAAATCCCCCAGGGTGCCCTTTGTT ACTTCCCAGTGGTACAATCATAGCTCATTGC	RHCE	ENSG00000188672.19	transcript	ENST00000294413.13	protein_coding	2/9			chr1	TogoVar
RHCE_chr1_25357249_25425825	25405592	T T	TGCAATGA others(102): Show TGCAATGAGCTATGATTGTACCACTGGGAAGTGACAAAGGGCACCCTGGG GGATTTCAAATGGTGGTGGCCCTGGTTTGGTGTTGCTGCCAGGTGAGTCC TTAAGCTATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00408.hp2 others(137): Show HG00099.hp2 HG00140.hp1 HG00408.hp2 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01978.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02135.hp1 HG02148.hp2 HG02165.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02683.hp2 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG02895.hp1 HG02897.hp1 HG02970.hp1 HG03017.hp1 HG03239.hp1 HG03654.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18946.hp2 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19043.hp2 NA19057.hp1 NA19060.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19072.hp2 NA19076.hp2 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19087.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp2 homoSapiens_chm13v2.hp1	a0001 a0009 a0010 others(3): Show a0001 a0009 a0010 a0011 a0012 a0019	a0001c0001 a0001c0025 a0009c0009 others(5): Show a0001c0001 a0001c0025 a0009c0009 a0010c0015 a0010c0022 a0011c0017 a0012c0016 a0019c0021	a0001c0001t0001 a0001c0025t0001 a0009c0009t0001 others(5): Show a0001c0001t0001 a0001c0025t0001 a0009c0009t0001 a0010c0015t0001 a0010c0022t0001 a0011c0017t0001 a0012c0016t0001 a0019c0021t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(136): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0025t0001g0192 a0009c0009t0001g0059 a0009c0009t0001g0071 a0009c0009t0001g0072 a0009c0009t0001g0073 a0010c0015t0001g0111 a0010c0015t0001g0114 a0010c0022t0001g0140 a0011c0017t0001g0047 a0011c0017t0001g0080 a0012c0016t0001g0088 a0012c0016t0001g0089 a0019c0021t0001g0040	140	334	0.4192	109	c.336 others(126): Show c.336-2847_336-2846insTATAGCTTAAGGACTCACCTGGCAGCAA CACCAAACCAGGGCCACCACCATTTGAAATCCCCCAGGGTGCCCTTTGTC ACTTCCCAGTGGTACAATCATAGCTCATTGC	RHCE	ENSG00000188672.19	transcript	ENST00000294413.13	protein_coding	2/9			chr1	TogoVar
RHCE_chr1_25357249_25425825	25405592	T T	TGCAATGA others(102): Show TGCAATGAGCTATGATTGTACCACTGGGAAGTGACAAAGGGCACCCTGGT GGATTTCAAATGGTGGTGGCCCTGGTTTGGTGTTGCTGCCAGGTGAGTCC TTAAGCTATA	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	334	0.0030	109	c.336 others(126): Show c.336-2847_336-2846insTATAGCTTAAGGACTCACCTGGCAGCAA CACCAAACCAGGGCCACCACCATTTGAAATCCACCAGGGTGCCCTTTGTC ACTTCCCAGTGGTACAATCATAGCTCATTGC	RHCE	ENSG00000188672.19	transcript	ENST00000294413.13	protein_coding	2/9			chr1	TogoVar
RHD_chr1_25267509_25335445	25287775	G G	GCAGTGGT others(102): Show GCAGTGGTACAATCATAGCTCATTGCTATAGCTTAAGGACTCACCTGGCA GCAACACCAAACCAGGGCCACCACCATTTGAAATCCCCCAGGGTGCCCTT TGTCACTTCC	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18995.hp1 NA18612.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0196 a0001c0001t0001g0183 a0001c0001t0001g0196	2	214	0.0094	109	c.336 others(126): Show c.336-2841_336-2840insTATAGCTTAAGGACTCACCTGGCAGCAA CACCAAACCAGGGCCACCACCATTTGAAATCCCCCAGGGTGCCCTTTGTC ACTTCCCAGTGGTACAATCATAGCTCATTGC	RHD	ENSG00000187010.21	transcript	ENST00000328664.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
RIPOR2_chr6_24799284_24940960	24927044	C C	CACCACCA others(102): Show CACCACCACCACAACTACAATCACCACCACCACCATCACTACCACCAGCA CCACTACAACTACAATCACCACCATCACCATCACTACCACCAGCACCACT ACAACTACAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0022 a0009c0012t0022	a0009c0012t0022g0291 a0009c0012t0022g0291	1	328	0.0031	109	c.61+ others(124): Show c.61+8793_61+8794insTTGTAGTTGTAGTGGTGCTGGTGGTAGTGA TGGTGATGGTGGTGATTGTAGTTGTAGTGGTGCTGGTGGTAGTGATGGTG GTGGTGGTGATTGTAGTTGTGGTGGTGGT	RIPOR2	ENSG00000111913.20	transcript	ENST00000643898.2	protein_coding	1/21			chr6	TogoVar
RNF213_chr17_80255852_80403794	80355708	A A	ATGGAGGA others(102): Show ATGGAGGAAGAAGCGGGGTGAACGGGAATGGGGGCTTACAGGGGAAGAAG CGGGGTGAATGGGAATGGGGGCTTACGGAGGAAGAAGCGGGGTGAACGGG AATGGGGTCT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0004 a0002c0010t0004	a0002c0010t0004g0077 a0002c0010t0004g0077	1	292	0.0034	109	c.108 others(130): Show c.10862+1132_10862+1133insTGGAGGAAGAAGCGGGGTGAACGG GAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTA CGGAGGAAGAAGCGGGGTGAACGGGAATGGGGTCT	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67			chr17	TogoVar
RNF213_chr17_80255852_80403794	80355708	A A	ATGGAGGA others(102): Show ATGGAGGAAGAAGCGGGGTGAACGGGAATGGGGGCTTACAGGGGAAGAAG CGGGGTGAATGGGAATGGGGGCTTACGGAGGAAGAAGCGGGGTGACCGGG AATGGGGTCT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0012 a0010c0017t0012	a0010c0017t0012g0097 a0010c0017t0012g0097	1	292	0.0034	109	c.108 others(130): Show c.10862+1132_10862+1133insTGGAGGAAGAAGCGGGGTGAACGG GAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTA CGGAGGAAGAAGCGGGGTGACCGGGAATGGGGTCT	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67			chr17	TogoVar
RPH3AL_chr17_207389_357807	319924	G G	GGGAGGGG others(102): Show GGGAGGGGGAGGGAGACTGAGGGGAGGGAGGGGGAGGGAGGAGGGGAGGG AGATGAGGGAGGGAGGGGAGGGAGACTGAGGAGAGGGAGGGGGAGGGAGA CTGAGGGGAT	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0050 a0001c0004t0001g0050	1	133	0.0075	109	c.222 others(124): Show c.222-376_222-375insATCCCCTCAGTCTCCCTCCCCCTCCCTCTC CTCAGTCTCCCTCCCCTCCCTCCCTCATCTCCCTCCCCTCCTCCCTCCCC CTCCCTCCCCTCAGTCTCCCTCCCCCTCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	4/9			chr17	TogoVar
RPSA2_chr19_23758004_23833868	23761901	A A	ATTCTTTC others(102): Show ATTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC TCTCTCTCTCTCTCTCTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0042 a0001c0001t0022g0042	1	366	0.0027	109	c.-15 others(120): Show c.-1536_-1535insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCT	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1102		chr19	TogoVar
RPTOR_chr17_80539838_80971368	80665459	T T	TTTCCTTT others(102): Show TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0064 a0001c0020t0064	a0001c0020t0064g0190 a0001c0020t0064g0190	1	196	0.0051	109	c.348 others(128): Show c.348+21693_348+21694insTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RSF1_chr11_77655009_77825722	77778115	A A	AGGAGGAG others(102): Show AGGAGGAGGGGGAAGGGGGGGAGGGGAGTGGAGGGGGAGGGAAGAGGGGG AGGGAAGGGGGGAATGGAGCGGGAGGGAAGGGGGAATGCAGGGGGAGTGG AGGGGGTGGG	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0031 a0001c0002t0031	a0001c0002t0031g0075 a0001c0002t0031g0075	1	352	0.0028	109	c.188 others(128): Show c.188-13427_188-13426insCCCACCCCCTCCACTCCCCCTGCATT CCCCCTTCCCTCCCGCTCCATTCCCCCCTTCCCTCCCCCTCTTCCCTCCC CCTCCACTCCCCTCCCCCCCTTCCCCCTCCTCC	RSF1	ENSG00000048649.14	transcript	ENST00000308488.11	protein_coding	1/15			chr11	TogoVar
RSF1_chr11_77655009_77825722	77778115	A A	AGGAGGAG others(102): Show AGGAGGAGGGGGGAAGGGGGGGAGGGGAGTGGAGGGGGAGGGAAGAGGGG GAGGGAAGGGGGGAATGGAGCGGGAGGGAAGGGGGAATGCAGGGGGAGTG GAGGGGGTGG	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	352	0.0028	109	c.188 others(128): Show c.188-13427_188-13426insCCACCCCCTCCACTCCCCCTGCATTC CCCCTTCCCTCCCGCTCCATTCCCCCCTTCCCTCCCCCTCTTCCCTCCCC CTCCACTCCCCTCCCCCCCTTCCCCCCTCCTCC	RSF1	ENSG00000048649.14	transcript	ENST00000308488.11	protein_coding	1/15			chr11	TogoVar
RSF1_chr11_77655009_77825722	77778115	A A	AGGAGGAG others(102): Show AGGAGGAGGGGGGAAGGGGGGGAGGGGAGTGGAGGGGGAGGGAAGAGGGG GAGGGAAGGGGGGAATGGAGCGGGAGGGAAGGGGGAATGCGGGGGAGTGG AGGGGGTGGG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0013 a0001c0002t0010g0013	1	352	0.0028	109	c.188 others(128): Show c.188-13427_188-13426insCCCACCCCCTCCACTCCCCCGCATTC CCCCTTCCCTCCCGCTCCATTCCCCCCTTCCCTCCCCCTCTTCCCTCCCC CTCCACTCCCCTCCCCCCCTTCCCCCCTCCTCC	RSF1	ENSG00000048649.14	transcript	ENST00000308488.11	protein_coding	1/15			chr11	TogoVar
RSPH10B2_chr7_6749103_6803765	6797861	A A	ATACACAC others(102): Show ATACACACACACACACACACACACACACACACACACACACACACATATAC ATACACACACACACACACATATATATATACACACACATATATATATACAC ACACACACAC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0043 a0002c0005t0001g0043	1	108	0.0093	109	c.243 others(126): Show c.2433-502_2433-501insTACACACACACACACACACACACACACA CACACACACACACACATATACATACACACACACACACACATATATATATA CACACACATATATATATACACACACACACAC	RSPH10B2	ENSG00000169402.16	transcript	ENST00000404077.6	protein_coding	20/20			chr7	TogoVar
RSPH10B2_chr7_6749103_6803765	6797863	A A	ATACACAC others(102): Show ATACACACACACACACACACACACACACACACACACACACACACATATAC ATACACACACACACACACATATATATACACACACATATATATATACACAC ACACACACAT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0033 a0003c0003t0001g0033	1	108	0.0093	109	c.243 others(126): Show c.2433-500_2433-499insTACACACACACACACACACACACACACA CACACACACACACACATATACATACACACACACACACACATATATATACA CACACATATATATATACACACACACACACAT	RSPH10B2	ENSG00000169402.16	transcript	ENST00000404077.6	protein_coding	20/20			chr7	TogoVar
RTP5_chr2_241864729_241878823	241876527	C C	CAGGGGCC others(102): Show CAGGGGCCCAACGGCAGGGACGAGGATCCCAGGAGAAACCTCAGTCCAGG TCTCAGGGGCCCAACTGCAGGGACCGAGGGTCCCAGGGGAAACCCCAATC CAGGTCTCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0002 a0002c0002t0015g0002	1	365	0.0027	109	c.32 others(120): Show c.3253_*3254insAGGGGCCCAACGGCAGGGACGAGGATCCCAGGAG AAACCTCAGTCCAGGTCTCAGGGGCCCAACTGCAGGGACCGAGGGTCCCA GGGGAAACCCCAATCCAGGTCTCAG	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		2705		chr2	TogoVar
RUFY1_chr5_179545554_179615012	179550536	C C	CCGCCCGC others(102): Show CCGCCCGCCCCCACCCCGCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGC CCGCCCCCACCCCGCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGC CCCCACCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0318 a0001c0002t0002g0318	1	376	0.0027	109	c.-34 others(116): Show c.-34_-33insCGCCCGCCCCCACCCCGCGCCCGCCCGCCCCCACCCCG CGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCCCACCCCGCGCCCGCC CGCCCGCCCGCCCCCACCCCG	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		17		chr5	TogoVar
RUFY1_chr5_179545554_179615012	179550536	C C	CCGCCCGC others(102): Show CCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGC CCGCCCCCACCCCGCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGC CCCCACCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03669.hp1 NA18990.hp1 others(1): Show HG03579.hp2 HG03669.hp1 NA18990.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0161 others(1): Show a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0161 a0001c0006t0001g0024	4	376	0.0106	109	c.-34 others(116): Show c.-34_-33insCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCC CCACCCCGCGCCCGCCCCCACCCCGCGCCCGCCCCCACCCCGCGCCCGCC CGCCCGCCCGCCCCCACCCCG	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		17		chr5	TogoVar
RUNDC3B_chr7_87623398_87837296	87626198	A A	ATGTCATA others(102): Show ATGTCATATATATGTGTCATATATGTGTCATATATATGTGTCATATATGT GTCATATATATGTGTCATATATGTGTCATATATATGTGTCATATATGTGT CATATATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0093 a0001c0001t0062g0093	1	202	0.0050	109	c.-26 others(120): Show c.-2626_-2625insTGTCATATATATGTGTCATATATGTGTCATATAT ATGTGTCATATATGTGTCATATATATGTGTCATATATGTGTCATATATAT GTGTCATATATGTGTCATATATGTG	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2199		chr7	TogoVar
SAA4_chr11_18226355_18241802	18230469	A A	AAAGAAAG others(102): Show AAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA AGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0074 a0001c0001t0004g0074	1	418	0.0024	109	c.10 others(120): Show c.1032_*1033insCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTTCTTTCTT	SAA4	ENSG00000148965.10	transcript	ENST00000278222.7	protein_coding		885		chr11	TogoVar
SAMD11_chr1_918923_949574	934349	A A	AGGCGGCT others(102): Show AGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGG CGGGGGGGGCGGCTCCGTTACAGGTGGGCAGGGGCGGCTGCGTTACAGGT GGGCGGGGGG	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0240 a0002c0003t0004g0240	1	434	0.0023	109	c.843 others(126): Show c.843-1401_843-1400insGGGGGAGGCGGCTGCGTTACAGGTGGGC GGGGGGGGCGGCTCCGTTACAGGTGGGCAGGGGCGGCTGCGTTACAGGTG GGCGGGGGGGGCGGCTGCGTTACAGGTGGGC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934458	G G	GGGGGGCG others(102): Show GGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGT GGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTT ACAGGTGGGC	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0028 a0028	a0028c0048 a0028c0048	a0028c0048t0004 a0028c0048t0004	a0028c0048t0004g0244 a0028c0048t0004g0244	1	434	0.0023	109	c.843 others(126): Show c.843-1312_843-1311insGGGCGGCTGCGTTACAGGTGGGCGGGGG AGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGG CGGGGGAGGCGGCTCCGTTACAGGTGGGCGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SARDH_chr9_133658560_133743352	133668693	T T	TCTCTCTC others(102): Show TCTCTCTCTCCTTCCCTCTCCCTTACCCTCCCTCTCCCTCACCCTCCCTC TCCCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTC TCCCCTCATC	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG04115.hp2 HG04228.hp1 HG03942.hp2 HG04115.hp2 HG04228.hp1	a0002 a0003 a0002 a0003	a0002c0034 a0003c0035 a0003c0049 a0002c0034 a0003c0035 a0003c0049	a0002c0034t0003 a0003c0035t0004 a0003c0049t0003 a0002c0034t0003 a0003c0035t0004 a0003c0049t0003	a0002c0034t0003g0154 a0003c0035t0004g0041 a0003c0049t0003g0170 a0002c0034t0003g0154 a0003c0035t0004g0041 a0003c0049t0003g0170	3	262	0.0115	109	c.249 others(128): Show c.2496-1824_2496-1823insGATGAGGGGAGAGGGAGGGTGAGGGA GAGGGAGGGTGAGGGGAGAGGGAGGGTGAGGGGAGAGGGAGGGTGAGGGA GAGGGAGGGTAAGGGAGAGGGAAGGAGAGAGAG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SCN7A_chr2_166398573_166499249	166410726	T T	TGTGATCA others(102): Show TGTGATCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCGTGAGCCACCG CGCCCGGCCC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0004 a0004	a0004c0024 a0004c0024	a0004c0024t0028 a0004c0024t0028	a0004c0024t0028g0342 a0004c0024t0028g0342	1	394	0.0025	109	c.360 others(126): Show c.3607-403_3607-402insGGGCCGGGCGCGGTGGCTCACGCACTCC AGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAATGATCAC	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	23/25			chr2	TogoVar
SCNN1D_chr1_1275436_1297025	1289337	C C	CCGTGTCT others(102): Show CCGTGTCTCTGCTCCGTCCCGTGTTCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTC TCTGCCCCGT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	290	0.0035	109	c.166 others(126): Show c.1663-933_1663-932insGTGTCTCTGCTCCGTCCCGTGTTCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTC TCTGCTCCGTCCCCCGTGTCTCTGCCCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEMA3A_chr7_83950777_84199789	84091119	A A	AAAGAAAG others(102): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAGAAAGAAAGAAAGAAGGAAGGAAGGAAAGAAAGAAAGAA AGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0052 a0001c0001t0003g0052	1	276	0.0036	109	c.453 others(128): Show c.453+19350_453+19351insCTTTCTTTCTTTCTTTCTTTCTTTCC TTCCTTCCTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SERAC1_chr6_158104519_158173262	158169559	T T	TATATATA others(102): Show TATATATAATATACTGTATATTATATATAATATACTGTATATTATATATA TAATATACTGTATATTACATATAATATACTGTATATTACATATAATATAT TGTATATTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	366	0.0027	109	c.-14 others(120): Show c.-1422_-1421insGTAATATACAATATATTATATGTAATATACAGTA TATTATATGTAATATACAGTATATTATATATATAATATACAGTATATTAT ATATAATATACAGTATATTATATAT	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1298		chr6	TogoVar
SERPINB9_chr6_2882270_2908309	2893196	A A	ATATATAT others(102): Show ATATATATTATATATACGTATATATATATAATATATATATATTATATATA CGTATATATAATATATATATATTATATATACGTATATATAATATATATAT TATATATACG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG02145.hp2 others(3): Show HG01167.hp2 HG01169.hp1 HG02145.hp2 HG02630.hp1 HG02809.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0042 others(2): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0042 a0001c0001t0044 a0001c0001t0124	a0001c0001t0003g0217 a0001c0001t0008g0213 a0001c0001t0042g0214 others(3): Show a0001c0001t0003g0217 a0001c0001t0008g0213 a0001c0001t0042g0214 a0001c0001t0044g0178 a0001c0001t0044g0215 a0001c0001t0124g0216	6	462	0.0130	109	c.567 others(124): Show c.567+214_567+215insCGTATATATAATATATATATTATATATACG TATATATAATATATATATATTATATATACGTATATATAATATATATATAT TATATATATATACGTATATATAATATATA	SERPINB9	ENSG00000170542.6	transcript	ENST00000380698.5	protein_coding	5/6			chr6	TogoVar
SGK1_chr6_134164256_134323112	134193824	A A	AGAGGGGA others(102): Show AGAGGGGAGGGGAGGGGAGGGGAGGAGAAGGGAGGGGAGGGGAGGGGAGG GGAGGAGAAGGGAGGGGAGGAGAGGGGAGGGGAGGGGAGGGAAGGGAGGG GAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02818.hp1 HG03139.hp2 others(1): Show HG02630.hp1 HG02818.hp1 HG03139.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0061 a0001c0001t0001g0160 a0001c0001t0005g0181 others(1): Show a0001c0001t0001g0061 a0001c0001t0001g0160 a0001c0001t0005g0181 a0001c0001t0005g0194	4	250	0.0160	109	c.361 others(128): Show c.361+13531_361+13532insCCTTCTCCTCCCCTCCCTTCCCTCCC CTCCCCTCCCCTCTCCTCCCCTCCCTTCTCCTCCCCTCCCCTCCCCTCCC CTCCCTTCTCCTCCCCTCCCCTCCCCTCCCCTC	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	3/13			chr6	TogoVar
SIGIRR_chr11_400716_419999	401702	C C	CACCCGCC others(102): Show CACCCGCCCCGCTCACCCCCAGCCCCGCTCACACCCGCCCCGCTCACCCC CGGCCCCGCTCACCCCCGGCCCCGCTCACCCCCCGGCCCCGCTCACCCCC GACCCGCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	242	0.0041	109	c.41 others(120): Show c.4193_*4194insTGAGCGGGTCGGGGGTGAGCGGGGCCGGGGGGTG AGCGGGGCCGGGGGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGC GGGGCTGGGGGTGAGCGGGGCGGGT	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4013		chr11	TogoVar
SIPA1L2_chr1_232392965_232635133	232415912	C C	CAGTCAGA others(102): Show CAGTCAGAACACGGGCACCACTGCCCCTCCCAGAGTCAGTCAGAACACGG GCACCACTGCCCCTCCCAGAGTCAGTCAGTCAGAACACGGGCACCACTGC CCCCTCCCAG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0111 a0001c0018t0001g0111	1	292	0.0034	109	c.463 others(126): Show c.4631-288_4631-287insCTGGGAGGGGGCAGTGGTGCCCGTGTTC TGACTGACTGACTCTGGGAGGGGCAGTGGTGCCCGTGTTCTGACTGACTC TGGGAGGGGCAGTGGTGCCCGTGTTCTGACT	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	18/22			chr1	TogoVar
SKI_chr1_2223319_2315213	2280786	C C	CGAGAGGA others(102): Show CGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAGG ACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGA GAAGACACGT	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	330	0.0030	109	c.970 others(128): Show c.970-22188_970-22187insGGACAGGCGGTGGTGGAGATCTTCAG AGAGAGGACGCCTGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGG TGGCGGAGATCTTCAGAGAGAAGACACGTGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2280872	C C	CGAGAGGA others(102): Show CGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAG ACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGA GAAGACACGT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0169 a0001c0001t0024g0169	1	330	0.0030	109	c.970 others(128): Show c.970-22102_970-22101insGGACAGGCGGTGGTGGAGATCTTCAG AGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGG TGGCGGAGATCTTCAGAGAGAAGACACGTGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2280872	C C	CGAGAGGA others(102): Show CGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAGG ACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGA GAAGACACGT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0050 a0001c0001t0026g0050	1	330	0.0030	109	c.970 others(128): Show c.970-22102_970-22101insGGACAGGCGGTGGTGGAGATCTTCAG AGAGAGGACGCCTGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGG TGGCGGAGATCTTCAGAGAGAAGACACGTGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2280915	C C	CGAGAGGA others(102): Show CGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAG ACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGA GAAGACACGT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp1 HG01123.hp1 others(3): Show HG00738.hp1 HG00741.hp1 HG01123.hp1 HG01169.hp1 HG02004.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0019 a0001c0001t0080	a0001c0001t0001g0026 a0001c0001t0002g0256 a0001c0001t0005g0207 others(3): Show a0001c0001t0001g0026 a0001c0001t0002g0256 a0001c0001t0005g0207 a0001c0001t0005g0221 a0001c0001t0019g0233 a0001c0001t0080g0043	6	330	0.0182	109	c.970 others(128): Show c.970-22059_970-22058insGGACAGGCGGTGGTGGAGATCTTCAG AGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGG TGGCGGAGATCTTCAGAGAGAAGACACGTGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281001	C C	CGAGAGGA others(102): Show CGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAG ACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGA GAAGACACGT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0051 a0001c0001t0014g0051	1	330	0.0030	109	c.970 others(128): Show c.970-21973_970-21972insGGACAGGCGGTGGTGGAGATCTTCAG AGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGG TGGCGGAGATCTTCAGAGAGAAGACACGTGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281043	C C	CTGAGAAG others(102): Show CTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATC TTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAG AGAAGACACG	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0279 a0001c0001t0008g0279	1	330	0.0030	109	c.970 others(128): Show c.970-21935_970-21934insTGAGAAGACAGGCGGTGGCGGAGATC TTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACA GGCGGTGGCGGAGATCTTCAGAGAGAAGACACG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6			chr1	TogoVar
SKI_chr1_2223319_2315213	2281087	C C	CGAGAGGA others(102): Show CGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAG ACAGGCAGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGA GAAGACACGT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0070 a0001c0001t0014g0070	1	330	0.0030	109	c.970 others(128): Show c.970-21887_970-21886insGGACAGGCGGTGGTGGAGATCTTCAG AGAGAGGACGCCTGAGAAGACAGGCAGTGGCGGAGATCTTCATAGAGAGG TGGCGGAGATCTTCAGAGAGAAGACACGTGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281087	C C	CGAGAGGA others(102): Show CGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAG ACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGA GAAGACACGT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0068 a0001c0001t0017g0068	1	330	0.0030	109	c.970 others(128): Show c.970-21887_970-21886insGGACAGGCGGTGGTGGAGATCTTCAG AGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGG TGGCGGAGATCTTCAGAGAGAAGACACGTGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281087	C C	CGAGAGGA others(102): Show CGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAGG ACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGA GAAGACACGT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0160 a0001c0001t0012g0160	1	330	0.0030	109	c.970 others(128): Show c.970-21887_970-21886insGGACAGGCGGTGGTGGAGATCTTCAG AGAGAGGACGCCTGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGG TGGCGGAGATCTTCAGAGAGAAGACACGTGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281178	G G	GGACAGGC others(102): Show GGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCTGAGAAGACAGG CGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGA CACGTGAGAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0259 a0001c0001t0063g0259	1	330	0.0030	109	c.970 others(128): Show c.970-21791_970-21790insCGGCGGCGATCTTCAGAGAGAGGACG CCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGAT CTTCAGAGAGAAGACACGTGAGAAGACAGGCGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281215	C C	CTGAGAAG others(102): Show CTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGTGGAGATC TTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAG AGAAGACACG	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0079 a0001c0001t0013g0079	1	330	0.0030	109	c.970 others(128): Show c.970-21763_970-21762insTGAGAAGACAGGCGGTGGCGGAGATC TTCATAGAGAGGTGGTGGAGATCTTCAGAGAGAAGACACGTGAGAAGACA GGCGGTGGCGGAGATCTTCAGAGAGAAGACACG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6			chr1	TogoVar
SKI_chr1_2223319_2315213	2281343	T T	TGCCCGAG others(102): Show TGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGTGGCGGAG ATCTTCAGAGAGAAGACACGTGAGAAGACAGGTGGTGGCGGAGATCTTCA GAGAGAGGAC	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0196 a0001c0001t0008g0196	1	330	0.0030	109	c.970 others(128): Show c.970-21594_970-21593insTGGCGGAGATCTTCAGAGAGAAGACA CGTGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGA AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281739	A A	AGACAGGC others(102): Show AGACAGGCGGCGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGA GAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGA AGCCCGAGAG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0293 a0001c0001t0047g0293	1	330	0.0030	109	c.970 others(128): Show c.970-21230_970-21229insCGGCGGAGATCTTCATAGAGAGGTGG CGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGAT CTTCAGAGAGAGGAAGCCCGAGAGGACAGGCGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281755	A A	AGATCTTC others(102): Show AGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGA AGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGG CGGCGGCGGC	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0188 a0002c0004t0001g0188	1	330	0.0030	109	c.970 others(128): Show c.970-21215_970-21214insTAGAGAGGTGGCGGAGATCTTCAGAG AGAAGACACGTGAGAAGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGAT GCCCGAGAGGACAGGCGGCGGCGGCGATCTTCA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281798	A A	AGATCTTC others(102): Show AGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGA AGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGG CGGCGGCGGC	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0188 a0002c0004t0001g0188	1	330	0.0030	109	c.970 others(128): Show c.970-21172_970-21171insTAGAGAGGTGGCGGAGATCTTCAGAG AGAAGACACGTGAGAAGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGAT GCCCGAGAGGACAGGCGGCGGCGGCGATCTTCA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281863	C C	CGAGAGGA others(102): Show CGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAG ACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGA GAAGACACGT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0229 a0001c0001t0014g0229	1	330	0.0030	109	c.970 others(128): Show c.970-21111_970-21110insGGACAGGCGGTGGTGGAGATCTTCAG AGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGG TGGCGGAGATCTTCAGAGAGAAGACACGTGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282077	C C	CTGAGAAG others(102): Show CTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAA GACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAG AGAAGACACG	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	330	0.0030	109	c.970 others(128): Show c.970-20901_970-20900insTGAGAAGACAGGCGGTGGCGGAGATC TTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCATAG AGAGGTGGCGGAGATCTTCAGAGAGAAGACACG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6			chr1	TogoVar
SKI_chr1_2223319_2315213	2282122	C C	CGAGAGGA others(102): Show CGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAG ACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGA GAAGACACGT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0169 a0001c0001t0024g0169	1	330	0.0030	109	c.970 others(128): Show c.970-20852_970-20851insGGACAGGCGGTGGTGGAGATCTTCAG AGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGG TGGCGGAGATCTTCAGAGAGAAGACACGTGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar

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Search Results (Total: 10000 hits)