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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
IGFN1_chr1_201185824_201233952	201210972	C C	CGGTCAAT others(209): Show CGGTCAATGGATGAGGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGG AATGGGTTCAGGCAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTG GAGAAATGGGGTCAGTGAATGAAGTAGGTTATAGGAAGGATTTGGGGGCT CCTAAGGGAATGGGTTCAGGGAGCAAGGCAGGTTTTAGGGATGGTTTAGG GAGTTCTGGGGAAATGG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02451.hp1 HG02970.hp2 HG06807.hp2 HG02451.hp1 HG02970.hp2 HG06807.hp2	a0020 a0020	a0020c0029 a0020c0029	a0020c0029t0002 a0020c0029t0002	a0020c0029t0002g0031 a0020c0029t0002g0120 a0020c0029t0002g0031 a0020c0029t0002g0120	3	428	0.0070	216	c.612 others(225): Show c.6123_6124insAAGGGAATGGGTTCAGGCAGTAAGGCAAGTTTTAGG GATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAAGTAGGTTA TAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGCAAGGCAG GTTTTAGGGATGGTTTAGGGAGTTCTGGGGAAATGGGGTCAATGGATGAG GCAGGTTATAGGAAGGATTTGGGGGCTCCT	p.Pro others(231): Show p.Pro2041_Glu2042insLysGlyMetGlySerGlySerLysAlaSer PheArgAspGlyLeuGlyGlySerGlyGluMetGlySerValAsnGluVa lGlyTyrArgLysAspLeuGlyAlaProLysGlyMetGlySerGlySerL ysAlaGlyPheArgAspGlyLeuGlySerSerGlyGluMetGlySerMet AspGluAlaGlyTyrArgLysAspLeuGlyAlaPro	IGFN1	ENSG00000163395.17	transcript	ENST00000335211.9	protein_coding	12/24	6255/11811	6124/11127	2042/3708		INFO_REALIGN_3_PRIME	chr1	TogoVar
IGFN1_chr1_201185824_201233952	201210972	C C	CGGTCAAT others(209): Show CGGTCAATGGATGAGGCAGGTTATAGGAAGGATTTGGGGGTTCCTAAGGG AATGGGTTCAGGCAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTG GAGAAATGGGGTCAGTGAATGAAGCAGATTATAGGAAGGATTTGGGGGCT CCTAAGGGAATGGGTTCAGGGAGCAAGGCAGGTTTTAGGGATGGTTTAGG GAGTTCTGGGGAAATGG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18957.hp1 NA18957.hp1	a0062 a0062	a0062c0067 a0062c0067	a0062c0067t0003 a0062c0067t0003	a0062c0067t0003g0237 a0062c0067t0003g0237	1	428	0.0023	216	c.611 others(225): Show c.6118_6119insTTCCTAAGGGAATGGGTTCAGGCAGTAAGGCAAGTT TTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAAGCA GATTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGCAA GGCAGGTTTTAGGGATGGTTTAGGGAGTTCTGGGGAAATGGGGTCAATGG ATGAGGCAGGTTATAGGAAGGATTTGGGGG	p.Gly others(231): Show p.Gly2039_Ala2040insValProLysGlyMetGlySerGlySerLys AlaSerPheArgAspGlyLeuGlyGlySerGlyGluMetGlySerValAs nGluAlaAspTyrArgLysAspLeuGlyAlaProLysGlyMetGlySerG lySerLysAlaGlyPheArgAspGlyLeuGlySerSerGlyGluMetGly SerMetAspGluAlaGlyTyrArgLysAspLeuGly	IGFN1	ENSG00000163395.17	transcript	ENST00000335211.9	protein_coding	12/24	6250/11811	6119/11127	2040/3708		INFO_REALIGN_3_PRIME	chr1	TogoVar
IGFN1_chr1_201185824_201233952	201210972	C C	CGGTCAAT others(209): Show CGGTCAATGGATGAGGCAGGTTATAGGAAGGATTTGGGGGTTCCTAAGGG AATGGGTTCAGGCAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTG GAGAAATGGGGTCAGTGAATGAAGCAGGTTATAGGAAGGATTTGGGGGCT CCTAAGGGAATGGGTTCAGGGAGCAAGGCAGGTTTTAGGGATGGTTTAGG GAGTTCTGGGGAAATGG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00423.hp1 HG00438.hp2 HG00544.hp1 others(107): Show HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00673.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG01928.hp2 HG01934.hp2 HG01978.hp1 HG02027.hp2 HG02040.hp2 HG02083.hp1 HG02129.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02523.hp2 HG02622.hp2 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02922.hp2 HG03098.hp1 HG03209.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG04184.hp1 HG04204.hp1 HG06807.hp1 NA18522.hp2 NA18939.hp1 NA18939.hp2 NA18946.hp1 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18975.hp2 NA18991.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19002.hp1 NA19004.hp2 NA19011.hp2 NA19043.hp2 NA19057.hp1 NA19058.hp2 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19077.hp1 NA19079.hp2 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19090.hp1 NA19091.hp2 NA20300.hp2 NA21309.hp2	a0001 a0005 a0017 others(25): Show a0001 a0005 a0017 a0022 a0023 a0028 a0031 a0032 a0033 a0057 a0058 a0059 a0063 a0064 a0065 a0066 a0067 a0068 a0069 a0070 a0071 a0077 a0079 a0101 a0102 a0103 a0104 a0105	a0001c0001 a0001c0013 a0001c0017 others(38): Show a0001c0001 a0001c0013 a0001c0017 a0001c0022 a0001c0065 a0001c0090 a0005c0004 a0005c0030 a0005c0054 a0017c0055 a0017c0141 a0017c0142 a0017c0143 a0022c0089 a0022c0096 a0022c0097 a0023c0041 a0023c0086 a0028c0051 a0031c0044 a0032c0042 a0033c0043 a0057c0102 a0058c0066 a0059c0091 a0063c0100 a0064c0099 a0065c0094 a0066c0095 a0067c0098 a0068c0068 a0069c0076 a0070c0093 a0071c0101 a0077c0088 a0079c0108 a0101c0138 a0102c0140 a0103c0144 a0104c0139 a0105c0137	a0001c0001t0001 a0001c0013t0001 a0001c0013t0011 others(40): Show a0001c0001t0001 a0001c0013t0001 a0001c0013t0011 a0001c0017t0001 a0001c0022t0003 a0001c0065t0001 a0001c0090t0001 a0005c0004t0001 a0005c0004t0003 a0005c0030t0005 a0005c0054t0001 a0017c0055t0002 a0017c0141t0004 a0017c0142t0004 a0017c0143t0002 a0022c0089t0004 a0022c0096t0002 a0022c0097t0002 a0023c0041t0001 a0023c0086t0001 a0028c0051t0001 a0031c0044t0001 a0032c0042t0001 a0033c0043t0001 a0057c0102t0001 a0058c0066t0009 a0059c0091t0001 a0063c0100t0001 a0064c0099t0001 a0065c0094t0001 a0066c0095t0001 a0067c0098t0001 a0068c0068t0001 a0069c0076t0005 a0070c0093t0001 a0071c0101t0001 a0077c0088t0001 a0079c0108t0001 a0101c0138t0009 a0102c0140t0001 a0103c0144t0002 a0104c0139t0001 a0105c0137t0004	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0009 others(85): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0022 a0001c0001t0001g0033 a0001c0001t0001g0039 a0001c0001t0001g0045 a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0097 a0001c0001t0001g0109 a0001c0001t0001g0136 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0180 a0001c0001t0001g0200 a0001c0001t0001g0206 a0001c0001t0001g0255 a0001c0001t0001g0322 a0001c0013t0001g0015 a0001c0013t0001g0220 a0001c0013t0001g0224 a0001c0013t0001g0236 a0001c0013t0001g0245 a0001c0013t0011g0209 a0001c0017t0001g0001 a0001c0017t0001g0046 a0001c0017t0001g0166 a0001c0022t0003g0037 a0001c0022t0003g0146 a0001c0022t0003g0149 a0001c0065t0001g0242 a0001c0090t0001g0191 a0005c0004t0001g0007 a0005c0004t0001g0019 a0005c0004t0001g0055 a0005c0004t0001g0060 a0005c0004t0001g0214 a0005c0004t0001g0215 a0005c0004t0001g0283 a0005c0004t0001g0286 a0005c0004t0001g0290 a0005c0004t0001g0297 a0005c0004t0001g0303 a0005c0004t0001g0306 a0005c0004t0003g0275 a0005c0030t0005g0081 a0005c0030t0005g0082 a0005c0030t0005g0093 a0005c0054t0001g0007 a0017c0055t0002g0282 a0017c0055t0002g0301 a0017c0141t0004g0056 a0017c0142t0004g0294 a0017c0143t0002g0310 a0022c0089t0004g0183 a0022c0096t0002g0145 a0022c0097t0002g0068 a0023c0041t0001g0001 a0023c0086t0001g0001 a0028c0051t0001g0009 a0031c0044t0001g0044 a0032c0042t0001g0001 a0032c0042t0001g0129 a0033c0043t0001g0165 a0033c0043t0001g0197 a0057c0102t0001g0001 a0058c0066t0009g0250 a0059c0091t0001g0190 a0063c0100t0001g0142 a0064c0099t0001g0130 a0065c0094t0001g0137 a0066c0095t0001g0122 a0067c0098t0001g0131 a0068c0068t0001g0015 a0069c0076t0005g0080 a0070c0093t0001g0192 a0071c0101t0001g0001 a0077c0088t0001g0144 a0079c0108t0001g0157 a0101c0138t0009g0315 a0102c0140t0001g0055 a0103c0144t0002g0295 a0104c0139t0001g0296 a0105c0137t0004g0056	110	428	0.2570	216	c.611 others(225): Show c.6118_6119insTTCCTAAGGGAATGGGTTCAGGCAGTAAGGCAAGTT TTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAAGCA GGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGCAA GGCAGGTTTTAGGGATGGTTTAGGGAGTTCTGGGGAAATGGGGTCAATGG ATGAGGCAGGTTATAGGAAGGATTTGGGGG	p.Gly others(231): Show p.Gly2039_Ala2040insValProLysGlyMetGlySerGlySerLys AlaSerPheArgAspGlyLeuGlyGlySerGlyGluMetGlySerValAs nGluAlaGlyTyrArgLysAspLeuGlyAlaProLysGlyMetGlySerG lySerLysAlaGlyPheArgAspGlyLeuGlySerSerGlyGluMetGly SerMetAspGluAlaGlyTyrArgLysAspLeuGly	IGFN1	ENSG00000163395.17	transcript	ENST00000335211.9	protein_coding	12/24	6250/11811	6119/11127	2040/3708		INFO_REALIGN_3_PRIME	chr1	TogoVar
IL17REL_chr22_49986811_50017765	50009894	T T	TGGCGGCA others(209): Show TGGCGGCAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGT GACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGTGACCCTCAGTCTGG TGTGGAATCGGCGGCAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGCGG CAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGTGACCCT CAGTCTGGTGTGGAATC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG00544.hp2 others(80): Show HG00280.hp2 HG00438.hp1 HG00544.hp2 HG00597.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp2 HG01891.hp2 HG02027.hp2 HG02040.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp2 HG02148.hp1 HG02155.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02523.hp2 HG02572.hp1 HG02622.hp2 HG02630.hp2 HG02717.hp1 HG02809.hp1 HG02818.hp1 HG02896.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03098.hp2 HG03139.hp2 HG03209.hp2 HG03516.hp2 HG03927.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18940.hp1 NA18945.hp1 NA18951.hp2 NA18952.hp1 NA18959.hp2 NA18960.hp2 NA18973.hp2 NA18983.hp2 NA18986.hp2 NA18990.hp2 NA19004.hp2 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19054.hp2 NA19056.hp2 NA19057.hp2 NA19063.hp2 NA19064.hp2 NA19067.hp2 NA19068.hp2 NA19072.hp2 NA19078.hp2 NA19081.hp2 NA19084.hp2 NA19086.hp2 NA19088.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0002c0005 a0007c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(12): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0001t0017 a0001c0001t0045 a0001c0003t0006 a0002c0002t0002 a0002c0002t0003 a0002c0002t0021 a0002c0002t0022 a0002c0002t0029 a0002c0002t0030 a0002c0005t0002 a0007c0006t0003	a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0275 others(46): Show a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0275 a0001c0001t0004g0051 a0001c0001t0004g0258 a0001c0001t0004g0259 a0001c0001t0009g0020 a0001c0001t0010g0093 a0001c0001t0017g0018 a0001c0001t0017g0282 a0001c0001t0045g0099 a0001c0003t0006g0098 a0002c0002t0002g0007 a0002c0002t0002g0055 a0002c0002t0002g0057 a0002c0002t0002g0288 a0002c0002t0002g0294 a0002c0002t0002g0304 a0002c0002t0002g0305 a0002c0002t0002g0307 a0002c0002t0003g0001 a0002c0002t0003g0009 a0002c0002t0003g0042 a0002c0002t0003g0050 a0002c0002t0003g0202 a0002c0002t0003g0249 a0002c0002t0003g0250 a0002c0002t0003g0251 a0002c0002t0003g0252 a0002c0002t0003g0253 a0002c0002t0003g0256 a0002c0002t0003g0264 a0002c0002t0003g0266 a0002c0002t0003g0267 a0002c0002t0003g0268 a0002c0002t0003g0269 a0002c0002t0003g0270 a0002c0002t0003g0272 a0002c0002t0003g0273 a0002c0002t0003g0274 a0002c0002t0003g0308 a0002c0002t0021g0052 a0002c0002t0022g0289 a0002c0002t0022g0306 a0002c0002t0029g0265 a0002c0002t0030g0263 a0002c0005t0002g0056 a0002c0005t0002g0309 a0007c0006t0003g0271	83	440	0.1886	216	c.103 others(233): Show c.103-1231_103-1230insGATTCCACACCAGACTGAGGGTCACTGA CTGCCGCCGATTCCACACCAGACTGAGGGTCACTGACTGCCGCCGATTCC ACACCAGACTGAGGGTCACTGACTGCCGCCGATTCCACACCAGACTGAGG GTCACTGACTGCCGCCGATTCCACACCAGACTGAGGGTCACTGACTGCCG CCGATTCCACACCAGACTGAGGGTCACTGACTGCCGCC		IL17REL	ENSG00000188263.11	transcript	ENST00000695950.1	protein_coding	1/14						chr22	TogoVar
IMPA1_chr8_81651914_81691325	81688664	A A	AAAAGAAA others(209): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0091 a0001c0001t0009g0091	1	380	0.0026	216	c.-24 others(227): Show c.-2438_-2437insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT		IMPA1	ENSG00000133731.10	transcript	ENST00000256108.10	protein_coding					2340		chr8	TogoVar
INMT_chr7_30747135_30762602	30758218	G G	GGCTCACT others(209): Show GGCTCACTGCAAGCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAA CCTCCCCAGTAGCTGGGACTACAGGTGCCCGTCACCACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTG AAAGTGCTTTTTTTAAGGTGTAGTTTCACTCTTGTTGCCCAAGCTGGCGT GCAATGGTGCGATCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG03710.hp1 HG03834.hp1 HG02818.hp1 HG03710.hp1 HG03834.hp1	a0007 a0012 a0007 a0012	a0007c0010 a0012c0016 a0007c0010 a0012c0016	a0007c0010t0031 a0012c0016t0026 a0007c0010t0031 a0012c0016t0026	a0007c0010t0031g0040 a0012c0016t0026g0020 a0007c0010t0031g0040 a0012c0016t0026g0020	3	434	0.0069	216	c.23 others(227): Show c.2367_*2368insGCTCACTGCAAGCTCCGCCTCCCGGGTTCAGGCC ATTCTCCTGCCTCAACCTCCCCAGTAGCTGGGACTACAGGTGCCCGTCAC CACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTG TTAGCCAGGATGGTGAAAGTGCTTTTTTTAAGGTGTAGTTTCACTCTTGT TGCCCAAGCTGGCGTGCAATGGTGCGATCTCA		INMT	ENSG00000241644.2	transcript	ENST00000013222.5	protein_coding					617		chr7	TogoVar
INMT_chr7_30747135_30762602	30758252	C C	CATTCTCC others(209): Show CATTCTCCTGCCTCAACCTCCCCAGTAGCTGGGACTACAGGTGCCCGTCA CCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGT GTTAGCCAGGATGGTGAAAGTGCTTTTTTTAAGGTGTAGTTTCACTCTTG TTGCCCAAGCTGGCGTGCAATGGTGCGATCTCAGCTCACTGCAAGCTCCG CCTCCTGGGTTCAAGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00642.hp1 others(23): Show HG00099.hp2 HG00280.hp2 HG00642.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp2 HG01123.hp2 HG01169.hp1 HG01891.hp1 HG01943.hp2 HG01975.hp2 HG01993.hp2 HG02055.hp1 HG02148.hp2 HG02273.hp1 HG02273.hp2 HG02622.hp1 HG02965.hp2 HG02970.hp2 HG03471.hp1 HG03491.hp2 HG03834.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA19240.hp1	a0004 a0006 a0004 a0006	a0004c0003 a0006c0005 a0004c0003 a0006c0005	a0004c0003t0006 a0004c0003t0024 a0006c0005t0006 others(3): Show a0004c0003t0006 a0004c0003t0024 a0006c0005t0006 a0006c0005t0042 a0006c0005t0043 a0006c0005t0045	a0004c0003t0006g0006 a0004c0003t0006g0008 a0004c0003t0024g0006 others(6): Show a0004c0003t0006g0006 a0004c0003t0006g0008 a0004c0003t0024g0006 a0006c0005t0006g0006 a0006c0005t0006g0025 a0006c0005t0006g0042 a0006c0005t0042g0006 a0006c0005t0043g0006 a0006c0005t0045g0006	26	434	0.0599	216	c.24 others(227): Show c.2401_*2402insATTCTCCTGCCTCAACCTCCCCAGTAGCTGGGAC TACAGGTGCCCGTCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTGTTAGCCAGGATGGTGAAAGTGCTTTTTTTAAGGT GTAGTTTCACTCTTGTTGCCCAAGCTGGCGTGCAATGGTGCGATCTCAGC TCACTGCAAGCTCCGCCTCCTGGGTTCAAGTG		INMT	ENSG00000241644.2	transcript	ENST00000013222.5	protein_coding					651		chr7	TogoVar
INMT_chr7_30747135_30762602	30758252	C C	CATTCTCC others(209): Show CATTCTCCTGCCTCAACCTCCCCAGTAGCTGGGACTACAGGTGCCCGTCA CCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGT GTTAGCCAGGATGGTGAAAGTGCTTTTTTTAAGGTGTAGTTTCACTCTTG TTGCCCAAGCTGGCGTGCAATGGTGTGATCTCAGCTCACTGCAAGCTCCG CCTCCTGGGTTCAAGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0006 a0006c0005t0006	a0006c0005t0006g0006 a0006c0005t0006g0006	1	434	0.0023	216	c.24 others(227): Show c.2401_*2402insATTCTCCTGCCTCAACCTCCCCAGTAGCTGGGAC TACAGGTGCCCGTCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTGTTAGCCAGGATGGTGAAAGTGCTTTTTTTAAGGT GTAGTTTCACTCTTGTTGCCCAAGCTGGCGTGCAATGGTGTGATCTCAGC TCACTGCAAGCTCCGCCTCCTGGGTTCAAGTG		INMT	ENSG00000241644.2	transcript	ENST00000013222.5	protein_coding					651		chr7	TogoVar
INPP5A_chr10_132532787_132788480	132772532	G G	GGACACTC others(209): Show GGACACTCAGCACTGACACGGAGGCCCCGGCAGCCGCCCCATGAAGAGTG GGACGGACACTCAGCACTGACACGGAGGCCCCGGCAGCCGCCCCATGAAG AGTGGGACGGACACTCAGCACTGACACAGAGGCCACAGCAGCCACCCCAT GAAGAGTGGGACGGACACTCAGCACTGACACAGAGGCCACGGCAGCCACC CCATGAAGAGTGGGACA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	204	0.0049	216	c.978 others(233): Show c.978-5121_978-5120insGGAGGCCCCGGCAGCCGCCCCATGAAGA GTGGGACGGACACTCAGCACTGACACGGAGGCCCCGGCAGCCGCCCCATG AAGAGTGGGACGGACACTCAGCACTGACACAGAGGCCACAGCAGCCACCC CATGAAGAGTGGGACGGACACTCAGCACTGACACAGAGGCCACGGCAGCC ACCCCATGAAGAGTGGGACAGACACTCAGCACTGACAC		INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
IPCEF1_chr6_154149496_154361803	154354415	A A	ACCTCCAC others(209): Show ACCTCCACCACCACCTCCACCATCTCCTCCACCACCACCTCCACCATCTC CTCCACCACCACCTCCACCATCTCCTCCACCACCACCTCCACCATCTCCT CCACCACCACCTCCACCATCTCCTCCACCACCACCTCCACCATCTCCTCC ACCACCACCTCCACCATCTCCTCCACAACCACCTCCACCATCTCCTCCAC CACCACCTCCACCATCT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0238 a0001c0001t0004g0238	1	264	0.0038	216	c.-62 others(233): Show c.-62+2256_-62+2257insAGATGGTGGAGGTGGTGGTGGAGGAGAT GGTGGAGGTGGTTGTGGAGGAGATGGTGGAGGTGGTGGTGGAGGAGATGG TGGAGGTGGTGGTGGAGGAGATGGTGGAGGTGGTGGTGGAGGAGATGGTG GAGGTGGTGGTGGAGGAGATGGTGGAGGTGGTGGTGGAGGAGATGGTGGA GGTGGTGGTGGAGGAGATGGTGGAGGTGGTGGTGGAGG		IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding	1/11						chr6	TogoVar
IRAK2_chr3_10159919_10248745	10224731	T T	TCCATCCA others(209): Show TCCATCCATCCACCCACCCACCCACCCATCCATCCACCCACCCACCTGTC CACCCATCCATCCACCCACCCACCCACCCATCCATCCACCCACCCACCCA CCCATCCATCCACCCACCCACCCACCCATCCATCCACCCACCCACCTGTC CACCCATGTACCCACCCTCCCACCAACCCACCCACCCATCCATTTATCCA CCTACCCACACATCCAC	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA18906.hp1 HG02809.hp1 NA18906.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0051 a0004c0005t0001g0275 a0004c0005t0001g0051 a0004c0005t0001g0275	2	292	0.0069	216	c.121 others(235): Show c.1210-1629_1210-1628insCCCACCCACCCACCCATCCATCCACC CACCCACCTGTCCACCCATCCATCCACCCACCCACCCACCCATCCATCCA CCCACCCACCCACCCATCCATCCACCCACCCACCCACCCATCCATCCACC CACCCACCTGTCCACCCATGTACCCACCCTCCCACCAACCCACCCACCCA TCCATTTATCCACCTACCCACACATCCACCCATCCATCCA		IRAK2	ENSG00000134070.5	transcript	ENST00000256458.5	protein_coding	9/12					INFO_REALIGN_3_PRIME	chr3	TogoVar
IRAK2_chr3_10159919_10248745	10224735	T T	TCCATCCA others(209): Show TCCATCCACCCACCCACCCACCCATCCATCCACCCACCCACCTGTCCACC CATCCATCCACCCACCCACCCACCCATCCATCCACCCACCCACCCACCCA TCCATCCACCCACCCACCCACCCACCCATCCATCCACCCACCCACCTGTC CACCCATGTACCCACCCTCCCACCAACCCACCCACCCATCCATTTATCCA CCTACCCACACATCCAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp1 HG00544.hp2 others(79): Show HG00140.hp2 HG00438.hp1 HG00544.hp2 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01169.hp1 HG01175.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01496.hp2 HG01891.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG02071.hp2 HG02083.hp2 HG02109.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02300.hp1 HG02630.hp1 HG02683.hp2 HG02717.hp1 HG02809.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG03041.hp1 HG03130.hp1 HG03139.hp2 HG03239.hp1 HG03453.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03927.hp1 HG04115.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18906.hp2 NA18942.hp1 NA18943.hp1 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18957.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18983.hp1 NA18984.hp1 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18998.hp2 NA19005.hp2 NA19012.hp1 NA19079.hp2 NA19082.hp2 NA19090.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp1	a0001 a0007 a0009 others(2): Show a0001 a0007 a0009 a0010 a0013	a0001c0001 a0001c0014 a0001c0020 others(4): Show a0001c0001 a0001c0014 a0001c0020 a0007c0008 a0009c0010 a0010c0012 a0013c0017	a0001c0001t0001 a0001c0014t0001 a0001c0020t0001 others(4): Show a0001c0001t0001 a0001c0014t0001 a0001c0020t0001 a0007c0008t0001 a0009c0010t0001 a0010c0012t0001 a0013c0017t0001	a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0013 others(79): Show a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0050 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0215 a0001c0001t0001g0233 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0248 a0001c0001t0001g0256 a0001c0001t0001g0261 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0287 a0001c0001t0001g0292 a0001c0014t0001g0110 a0001c0020t0001g0020 a0007c0008t0001g0093 a0007c0008t0001g0152 a0009c0010t0001g0005 a0009c0010t0001g0008 a0010c0012t0001g0092 a0010c0012t0001g0114 a0010c0012t0001g0268 a0013c0017t0001g0108	82	292	0.2808	216	c.121 others(235): Show c.1210-1629_1210-1628insCCCACCCACCCACCCATCCATCCACC CACCCACCTGTCCACCCATCCATCCACCCACCCACCCACCCATCCATCCA CCCACCCACCCACCCATCCATCCACCCACCCACCCACCCACCCATCCATC CACCCACCCACCTGTCCACCCATGTACCCACCCTCCCACCAACCCACCCA CCCATCCATTTATCCACCTACCCACACATCCACCCATCCA		IRAK2	ENSG00000134070.5	transcript	ENST00000256458.5	protein_coding	9/12					INFO_REALIGN_3_PRIME	chr3	TogoVar
ITGA11_chr15_68291532_68437163	68400708	A A	AATATTAT others(209): Show AATATTATATTATATATTATATAATAAATATTATATTATATATTATATAA TAAATATTATATTATATATTATATAATAAATATTATAATATTATATATTA TATAATAAATATTATATTATATATTATATAATAAATATTATATTATATAT TATATAATAAATATTATATTATATATTATATAATAAATATTATATTATAT ATTATATAATAAATATT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0016 a0004c0013t0016	a0004c0013t0016g0184 a0004c0013t0016g0184	1	242	0.0041	216	c.164 others(233): Show c.164+2209_164+2210insAATATTTATTATATAATATATAATATAA TATTTATTATATAATATATAATATAATATTTATTATATAATATATAATAT AATATTTATTATATAATATATAATATAATATTTATTATATAATATATAAT ATTATAATATTTATTATATAATATATAATATAATATTTATTATATAATAT ATAATATAATATTTATTATATAATATATAATATAATAT		ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	2/29						chr15	TogoVar
ITGA11_chr15_68291532_68437163	68400728	A A	AAATATTA others(209): Show AAATATTATATTATATATTATATAATAAATATTATATTATATATTATATA ATAAATATTATATTATATATTATATAATAAATATTATATTATATATTATA TAATAAATATTATATTATATATTATATAATAAATATTATATTATATATTA TATAATAAATATTATATTATATATTATATAATAAATATTATATTATATAT TATATAATAAATATTAT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0005 a0005	a0005c0018 a0005c0018	a0005c0018t0043 a0005c0018t0043	a0005c0018t0043g0036 a0005c0018t0043g0036	1	242	0.0041	216	c.164 others(233): Show c.164+2189_164+2190insATAATATTTATTATATAATATATAATAT AATATTTATTATATAATATATAATATAATATTTATTATATAATATATAAT ATAATATTTATTATATAATATATAATATAATATTTATTATATAATATATA ATATAATATTTATTATATAATATATAATATAATATTTATTATATAATATA TAATATAATATTTATTATATAATATATAATATAATATT		ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	2/29						chr15	TogoVar
ITGA3_chr17_50051110_50095481	50086190	T T	TTATATAT others(209): Show TTATATATATTATACATGTATAATATATATATTAGATTATATATATTATA CATGTATAATATATATATTAGATTATATATATTATACATGTATAATATAT ATATTAGATTATATATATTATACATGTATAATATATATATTAGATTATAT ATATTATACATGTATAATATATATTAGATTATATATATTATACATGTATA ATATATATATTAGATTA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0267 a0001c0001t0002g0267	1	402	0.0025	216	c.292 others(235): Show c.2920-1547_2920-1546insATTATACATGTATAATATATATATTA GATTATATATATTATACATGTATAATATATATATTAGATTATATATATTA TACATGTATAATATATATATTAGATTATATATATTATACATGTATAATAT ATATATTAGATTATATATATTATACATGTATAATATATATTAGATTATAT ATATTATACATGTATAATATATATATTAGATTATATATAT		ITGA3	ENSG00000005884.18	transcript	ENST00000320031.13	protein_coding	23/25					INFO_REALIGN_3_PRIME	chr17	TogoVar
ITGAV_chr2_186585056_186685901	186605797	A A	AATATATT others(209): Show AATATATTCTTATGTATATGTATAATACATATATTCTTATGTATATGTAT AATACATATATTCTTATGTATATGTATAATACATATATTCTTATGTATAT GTATAATACATATATTCTTATGTATATGTATAATACATATATTCTTATGT ATATGTATAATACATATATTCTTATGTATATGTATAATACATATATTCTT ATGTATATGTATAATAC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG02886.hp1 others(1): Show HG01516.hp2 HG01517.hp1 HG02886.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0002 a0001c0001t0009 a0001c0008t0020 a0001c0001t0002 a0001c0001t0009 a0001c0008t0020	a0001c0001t0002g0002 a0001c0001t0009g0070 a0001c0008t0020g0094 a0001c0001t0002g0002 a0001c0001t0009g0070 a0001c0008t0020g0094	4	308	0.0130	216	c.316 others(233): Show c.316+3750_316+3751insATACATATATTCTTATGTATATGTATAA TACATATATTCTTATGTATATGTATAATACATATATTCTTATGTATATGT ATAATACATATATTCTTATGTATATGTATAATACATATATTCTTATGTAT ATGTATAATACATATATTCTTATGTATATGTATAATACATATATTCTTAT GTATATGTATAATACATATATTCTTATGTATATGTATA		ITGAV	ENSG00000138448.13	transcript	ENST00000261023.8	protein_coding	2/29					INFO_REALIGN_3_PRIME	chr2	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406396	C C	CGTCTTCC others(209): Show CGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGACAT CTCGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGAC ATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTC TGTGACATCTAGTCTTCCTCAGGCCTTCAATGTGTGTGTGTCACTGAGTG GACCTCTGTGACATCTA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0176 a0001c0001t0176	a0001c0001t0176g0204 a0001c0001t0176g0204	1	276	0.0036	216	c.43 others(225): Show c.437_*438insTAGATGTCACAGAGGTCCACTCAGTGACACACACAC ATTGAAGGCCTGAGGAAGACTAGATGTCACAGAGGTCCACTCAGTGACAA ACACACACTGAAGGCCTGAGGAAGACTAGATGTCACAGAGGTCCACTCAG TGACACACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTC AGTGACACACACTGAAGGCCTGAGGAAGAC		ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7				437		chr2	TogoVar
ITPR2_chr12_26330352_26838194	26831677	T T	TTTATATA others(209): Show TTTATATATATTTATTTATATAAATATATATATTTATATAAATATATATA TATTCTACATAAAATATATAAATATATATTCTACATAAAATATATAAATA TATATTCTACATAAAATATATAAATATATATTATACATAAAATATATAAA TATATATTATACATAAAATATATAAATATATATTATACATAAAATATATA AATATATATTATACATA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0023 a0001c0003t0023	a0001c0003t0023g0135 a0001c0003t0023g0135	1	142	0.0070	216	c.92+ others(231): Show c.92+1012_92+1013insTATGTATAATATATATTTATATATTTTATG TATAATATATATTTATATATTTTATGTATAATATATATTTATATATTTTA TGTATAATATATATTTATATATTTTATGTAGAATATATATTTATATATTT TATGTAGAATATATATTTATATATTTTATGTAGAATATATATATATTTAT ATAAATATATATATTTATATAAATAAATATATATAA		ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	1/56						chr12	TogoVar
IZUMO3_chr9_24537952_24550897	24546511	T T	TCTTTTCT others(209): Show TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 HG03669.hp2 HG03704.hp2 HG01928.hp2 HG03669.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0014 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0014 a0001c0002t0002g0019 a0001c0002t0002g0020	3	426	0.0070	216	c.-86 others(225): Show c.-863_-862insGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAG		IZUMO3	ENSG00000205442.13	transcript	ENST00000543880.7	protein_coding					615		chr9	TogoVar
KALRN_chr3_124028369_124731325	124673442	A A	ACATATAG others(209): Show ACATATAGAATATATATGTATATCCTGTATGTATATGCATATAGAATATA TATGTATATCCTGTATGTATATGCATATAGAATATATATGTATATCCTGT ATGTATATGCATATAGAATATATATGTATATCCTGTATGTATATGCATAT AGAATATATATGTATATCCTGTATGTATATGCATATAGAATATATATGTA TATCCTGTATGTATATG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0008 a0008	a0008c0048 a0008c0048	a0008c0048t0003 a0008c0048t0003	a0008c0048t0003g0007 a0008c0048t0003g0007	1	116	0.0086	216	c.694 others(233): Show c.6943-887_6943-886insGCATATAGAATATATATGTATATCCTGT ATGTATATGCATATAGAATATATATGTATATCCTGTATGTATATGCATAT AGAATATATATGTATATCCTGTATGTATATGCATATAGAATATATATGTA TATCCTGTATGTATATGCATATAGAATATATATGTATATCCTGTATGTAT ATGCATATAGAATATATATGTATATCCTGTATGTATAT		KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	48/59					INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124673514	A A	ACATATAG others(209): Show ACATATAGAATATATATGTATATCCTGTATGTATATACATATAGAATATA TATGTATATCCTGTATGTATATGCATATAGAATATATATGTATATCCTGT ATGTATATGCATATAGAATATATATGTATATCCTGTATGTATATGCATAT AGAATATATATGTATATCCTGTATGTATATGCATATAGAATATATATGTA TATCCTGTATGTATATG	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA18906.hp2 HG02486.hp2 NA18906.hp2	a0001 a0001	a0001c0029 a0001c0069 a0001c0029 a0001c0069	a0001c0029t0020 a0001c0069t0022 a0001c0029t0020 a0001c0069t0022	a0001c0029t0020g0114 a0001c0069t0022g0102 a0001c0029t0020g0114 a0001c0069t0022g0102	2	116	0.0172	216	c.694 others(233): Show c.6943-815_6943-814insACATATAGAATATATATGTATATCCTGT ATGTATATGCATATAGAATATATATGTATATCCTGTATGTATATGCATAT AGAATATATATGTATATCCTGTATGTATATGCATATAGAATATATATGTA TATCCTGTATGTATATGCATATAGAATATATATGTATATCCTGTATGTAT ATGCATATAGAATATATATGTATATCCTGTATGTATAT		KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	48/59					INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124673514	A A	ACATATAG others(209): Show ACATATAGAATATATATGTATATCCTGTATGTATATGCATATAGAATATA TATGTATATCCTGTATGTATATGCATATAGAATATATATGTATATCCTGT ATGTATATGCATATAGAATATATATGTATATCCTGTATGTATATGCATAT AGAATATATATGTATATCCTGTATGTATATGCATATAGAATATATATGTA TATCCTGTATGTATATG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02615.hp1 HG02055.hp1 HG02615.hp1	a0001 a0001	a0001c0031 a0001c0040 a0001c0031 a0001c0040	a0001c0031t0003 a0001c0040t0032 a0001c0031t0003 a0001c0040t0032	a0001c0031t0003g0018 a0001c0040t0032g0100 a0001c0031t0003g0018 a0001c0040t0032g0100	2	116	0.0172	216	c.694 others(233): Show c.6943-720_6943-719insCCTGTATGTATATGCATATAGAATATAT ATGTATATCCTGTATGTATATGCATATAGAATATATATGTATATCCTGTA TGTATATGCATATAGAATATATATGTATATCCTGTATGTATATGCATATA GAATATATATGTATATCCTGTATGTATATGCATATAGAATATATATGTAT ATCCTGTATGTATATGCATATAGAATATATATGTATAT		KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	48/59					INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNK10_chr14_88175108_88328269	88310229	G G	GATATACC others(209): Show GATATACCATATCATATGGTATATGATATACCATATCATATGGTATATGA TATACCATATCATATGGTATATGATATACCATATCATATGGTATATGATA TACCATATCATATGGTATATGATATACCATATCATATGGTATATGATATA CCATATCATATGGTATATCATATACCATATCATATGGTATATCATATACC ATATCATATGGTATATC	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA19030.hp2 HG02559.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0017 a0001c0002t0017g0018 a0001c0002t0017g0017 a0001c0002t0017g0018	2	334	0.0060	216	c.52+ others(233): Show c.52+12517_52+12518insGATATACCATATGATATGGTATATGATA TACCATATGATATGGTATATGATATACCATATGATATGGTATATCATATA CCATATGATATGGTATATCATATACCATATGATATGGTATATCATATACC ATATGATATGGTATATCATATACCATATGATATGGTATATCATATACCAT ATGATATGGTATATCATATACCATATGATATGGTATAT		KCNK10	ENSG00000100433.16	transcript	ENST00000319231.10	protein_coding	1/6						chr14	TogoVar
KCNK9_chr8_139612121_139708123	139687464	A A	ATATATGT others(209): Show ATATATGTGTATACACATATATTCATATATATGTGTATACACATATATTC ATATATATGTGTATACACATATATTCATATATATGTGTATACACATATAT TCATATATATGTGTATACACATATATTCATATATATGTGTATACACATAT ATTCATATATATGTGTATACACATATATTCATATATATGTGTATACACAT ATATTCATATATATGTG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	322	0.0031	216	c.283 others(235): Show c.283+15245_283+15246insCACATATATATGAATATATGTGTATA CACATATATATGAATATATGTGTATACACATATATATGAATATATGTGTA TACACATATATATGAATATATGTGTATACACATATATATGAATATATGTG TATACACATATATATGAATATATGTGTATACACATATATATGAATATATG TGTATACACATATATATGAATATATGTGTATACACATATA		KCNK9	ENSG00000169427.8	transcript	ENST00000520439.3	protein_coding	1/1						chr8	TogoVar
KCNQ2_chr20_63395208_63477655	63432458	C C	CTCCACCC others(209): Show CTCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGAG AAGGCCCCACCCTCAGGGAAGGCCCCACCCTCTGGGAAGGCCCCACCCTC AGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCAC CCTCTGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCC CCACCCTCAGGGAAGGA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01109.hp2 others(3): Show HG01069.hp2 HG01071.hp1 HG01109.hp2 HG02148.hp1 HG02258.hp2 HG03209.hp1	a0002 a0002	a0002c0001 a0002c0019 a0002c0001 a0002c0019	a0002c0001t0020 a0002c0001t0058 a0002c0019t0038 a0002c0001t0020 a0002c0001t0058 a0002c0019t0038	a0002c0001t0020g0205 a0002c0001t0020g0207 a0002c0001t0020g0245 others(3): Show a0002c0001t0020g0205 a0002c0001t0020g0207 a0002c0001t0020g0245 a0002c0001t0058g0204 a0002c0019t0038g0290 a0002c0019t0038g0291	6	330	0.0182	216	c.111 others(235): Show c.1119-1090_1119-1089insTCCTTCCCTGAGGGTGGGGCCTTCCC TGAGGGTGGGGCCTTCCCTGTGGGTGGGGCCTTCCCAGAGGGTGGAGCCT TCCCTGTGGGTGGATCCTTCCCTGAGGGTGGAGCCTTCCCTGAGGGTGGG GCCTTCCCAGAGGGTGGGGCCTTCCCTGAGGGTGGGGCCTTCTCTGTGGG TGGATCCTTCCCTGAGGGTGGGGCCTTCCCAGAGGGTGGA		KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	8/16						chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63442752	T T	TCACCATC others(209): Show TCACCATCACCACCATCACCATCACCACCATCACCATTACCACCACCATT ACCACCACCATCACCATCACCATCACCACCACCACCACCACCACCACCAC CACCACCATCACCACCACCATCACCATCACCACCACCATCACCATTATCA CCACCACCATCACCACCATCACCACCACCACCATCACCATCACCACCACC ATCACCATTATCACCAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0196 a0002c0001t0001g0196	1	330	0.0030	216	c.691 others(231): Show c.691-222_691-221insGTGGTGATAATGGTGATGGTGGTGGTGATG GTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGATAATGGTGAT GGTGGTGGTGATGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTAATGGTGGTGGTA ATGGTGATGGTGGTGATGGTGATGGTGGTGATGGTG		KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16						chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63442782	C C	CCACCATC others(209): Show CCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATC ACCACCACCACCACCACCATCACCATCACCACCACCATCACCATTATCAC CACCACCATCACCACCATCACCACCACCACCATCACCATCACCACCACCA TCACCATTATCACCACCACCATCACCACCATCACCATCACCACCATCACC ATCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02723.hp1 HG01167.hp2 HG02723.hp1	a0001 a0001	a0001c0004 a0001c0017 a0001c0004 a0001c0017	a0001c0004t0004 a0001c0017t0051 a0001c0004t0004 a0001c0017t0051	a0001c0004t0004g0094 a0001c0017t0051g0160 a0001c0004t0004g0094 a0001c0017t0051g0160	2	330	0.0061	216	c.691 others(231): Show c.691-252_691-251insATGGTGGTGGTGGTGATGGTGATGGTGGTG ATGGTGATGGTGGTGATGGTGGTGGTGATAATGGTGATGGTGGTGGTGAT GGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGATAATGGTGA TGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGATGGTGATGGTG ATGGTGGTGGTAATGGTGGTGGTAATGGTGATGGTG		KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16						chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63442854	C C	CCACCACC others(209): Show CCACCACCATCACCACCACCATCACCATCACCACCACCATCACCATTATC ACCACCACCATCACCACCATCACCACCACCACCATCACCATCACCACCAC CATCACCATTATCACCACCACCATCACCACCATCACCATCACCACCACCA CCATCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACC ACCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0034 a0001c0002t0034	a0001c0002t0034g0040 a0001c0002t0034g0040	1	330	0.0030	216	c.691 others(231): Show c.691-324_691-323insATGGTGGTGGTGGTGGTGGTGATGGTGATG GTGGTGGTAATGGTGGTGGTAATGGTGATGGTGATGGTGGTGGTGGTGAT GGTGATGGTGGTGATGGTGGTGGTGATAATGGTGATGGTGGTGGTGATGG TGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGATAATGGTGATG GTGGTGGTGATGGTGATGGTGGTGGTGATGGTGGTG		KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16						chr20	TogoVar
KIAA0825_chr5_94145851_94623604	94608474	A A	ATATTATA others(209): Show ATATTATATATATAATATATATTATATATATAATATATATAATATATATA AAATATATATATTATATATATAATATATATTATATATATAATATATATAT TTTATATATATTATATATATAAAATATATATATTATATATATAATATATA TTATATAATATATATTATATATATAATATATATATTATATATATAATATA TATATTATATATATAAT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0039 a0001c0001t0040g0039	1	54	0.0185	216	c.-15 others(237): Show c.-153+10025_-153+10026insATTATATATATAATATATATATTA TATATATAATATATATATTATATATATAATATATATTATATAATATATAT TATATATATAATATATATATTTTATATATATAATATATATAAAATATATA TATTATATATATAATATATATTATATATATAATATATATATTTTATATAT ATTATATATATTATATATATAATATATATTATATATATAATA		KIAA0825	ENSG00000185261.16	transcript	ENST00000682413.1	protein_coding	1/20						chr5	TogoVar
KIAA1958_chr9_112481827_112674397	112525918	T T	TTTCTTCT others(209): Show TTTCTTCTTCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTTCTCCTTCT TCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0008 a0001c0002t0022g0008	1	308	0.0033	216	c.-25 others(235): Show c.-25+38819_-25+38820insCCTTCTTCTTCTCCTTCTTCTTCTCC TTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTC CTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT		KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525918	T T	TTTCTTCT others(209): Show TTTCTTCTTCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTTCTTCTTCT TCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTC CTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCT TCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	308	0.0033	216	c.-25 others(235): Show c.-25+38819_-25+38820insCCTTCTTCTTCTCCTTCTTCTTCTTC TTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTC CTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT		KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525918	T T	TTTCTTCT others(209): Show TTTCTTCTTCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTTCTTCTTCT TCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTC CTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCT TCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	308	0.0033	216	c.-25 others(235): Show c.-25+38819_-25+38820insCCTTCTTCTTCTCCTTCTTCTTCTTC TTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTC CTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT		KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525918	T T	TTTCTTCT others(209): Show TTTCTTCTTCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTTCTTCTTCT TCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTC CTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01256.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0092 a0001c0001t0001g0096	2	308	0.0065	216	c.-25 others(235): Show c.-25+38819_-25+38820insCCTTCTTCTTCTCCTTCTTCTTCTTC TTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTC CTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT		KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525964	T T	TTCTCCTT others(209): Show TTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTT CTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCT TCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCCTCTTCTT CTTCCTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0205 a0001c0001t0060g0205	1	308	0.0033	216	c.-25 others(235): Show c.-25+38849_-25+38850insCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTCCTTCCTCTTCTTCTTCCTCTTCTTCTTCCTCT		KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525964	T T	TTCTTCTC others(209): Show TTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTC CTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCCTCTTCTT CTTCCTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA18951.hp2 NA18987.hp2 HG03098.hp1 NA18951.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0001t0068 a0001c0007t0002 a0001c0001t0002 a0001c0001t0068 a0001c0007t0002	a0001c0001t0002g0267 a0001c0001t0068g0249 a0001c0007t0002g0274 a0001c0001t0002g0267 a0001c0001t0068g0249 a0001c0007t0002g0274	3	308	0.0097	216	c.-25 others(235): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTCCTTCCTCTTCTTCTTCCTCTTCTTCTTCCTCTTCT		KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525964	T T	TTCTTCTC others(209): Show TTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTC CTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCCTCTTCTT CTTCCTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01361.hp1 HG01496.hp1 others(2): Show HG00735.hp2 HG01361.hp1 HG01496.hp1 HG02257.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008	a0001c0001t0001g0221 a0001c0001t0002g0200 a0001c0001t0002g0276 others(2): Show a0001c0001t0001g0221 a0001c0001t0002g0200 a0001c0001t0002g0276 a0001c0001t0005g0275 a0001c0001t0008g0203	5	308	0.0162	216	c.-25 others(235): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTCCTTCCTCTTCTTCTTCCTCTTCTTCTTCCTCTTCT		KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525964	T T	TTCTTCTC others(209): Show TTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTC CTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCCTCTTCTT CTTCCTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0280 a0001c0001t0002g0280	1	308	0.0033	216	c.-25 others(235): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTCCTTCCTCTTCTTCTTCCTCTTCTTCTTCCTCTTCT		KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525964	T T	TTCTTCTC others(209): Show TTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTT CTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCT TCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCCTCTTCTT CTTCCTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	308	0.0033	216	c.-25 others(235): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTTCTTCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTT CTCCTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCT TCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTCCTTCCTCTTCTTCTTCCTCTTCTTCTTCCTCTTCT		KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525970	T T	TCCTTCTT others(209): Show TCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTT CTTCCTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0080 a0001c0001t0003g0080	1	308	0.0033	216	c.-25 others(235): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCCTCTTCTTCTTCCTCTTCTTCTTCC		KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3						chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525970	T T	TCCTTCTT others(209): Show TCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTCCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTT CTTCCTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0125 a0001c0001t0003g0125	1	308	0.0033	216	c.-25 others(235): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCCTCTTCTTCTTCCTCTTCTTCTTCC		KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3						chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525970	T T	TCCTTCTT others(209): Show TCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTCCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTT CTTCCTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0044 a0001c0002t0004g0044	1	308	0.0033	216	c.-25 others(235): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCCTCTTCTTCTTCCTCTTCTTCTTCC		KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3						chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525970	T T	TCCTTCTT others(209): Show TCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTCCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTCCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTT CTTCCTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0082 a0001c0002t0004g0082	1	308	0.0033	216	c.-25 others(235): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTTCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCCTCTTCTTCTTCCTCTTCTTCTTCC		KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3						chr9	TogoVar
KIF17_chr1_20659014_20723007	20712845	T T	TTATCTAT others(209): Show TTATCTATATTATAGATATAGATATTTATATCTATAATATAGATATAGAT ATTATCTATATCTATAATATAGATAATATTATCTATATCTATAATATAGA TAATATTATCTATATCTATAATATAGATAATATTATCTATATCTATAATA TAGATAATATTATCTATATCTATAATATAGATAATATTATCTATATTATA GATATTATCTATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp2 HG00609.hp1 others(23): Show HG00408.hp1 HG00597.hp2 HG00609.hp1 HG01978.hp2 HG01993.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02132.hp1 HG02273.hp2 HG02602.hp1 NA18939.hp1 NA18953.hp2 NA18960.hp1 NA18962.hp1 NA18964.hp2 NA18973.hp1 NA18974.hp2 NA19002.hp1 NA19004.hp2 NA19064.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19090.hp2 NA19091.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0036	a0001c0005 a0001c0009 a0001c0047 others(9): Show a0001c0005 a0001c0009 a0001c0047 a0001c0105 a0002c0003 a0002c0010 a0002c0025 a0002c0104 a0002c0107 a0003c0037 a0004c0030 a0036c0102	a0001c0005t0001 a0001c0009t0001 a0001c0009t0002 others(10): Show a0001c0005t0001 a0001c0009t0001 a0001c0009t0002 a0001c0047t0001 a0001c0105t0002 a0002c0003t0001 a0002c0010t0001 a0002c0025t0001 a0002c0104t0001 a0002c0107t0001 a0003c0037t0001 a0004c0030t0001 a0036c0102t0001	a0001c0005t0001g0121 a0001c0005t0001g0128 a0001c0005t0001g0178 others(23): Show a0001c0005t0001g0121 a0001c0005t0001g0128 a0001c0005t0001g0178 a0001c0009t0001g0134 a0001c0009t0001g0141 a0001c0009t0002g0135 a0001c0047t0001g0118 a0001c0105t0002g0138 a0002c0003t0001g0053 a0002c0003t0001g0054 a0002c0003t0001g0116 a0002c0003t0001g0137 a0002c0003t0001g0140 a0002c0003t0001g0239 a0002c0003t0001g0240 a0002c0003t0001g0299 a0002c0010t0001g0127 a0002c0010t0001g0241 a0002c0025t0001g0144 a0002c0025t0001g0145 a0002c0025t0001g0146 a0002c0104t0001g0120 a0002c0107t0001g0142 a0003c0037t0001g0265 a0004c0030t0001g0129 a0036c0102t0001g0122	26	414	0.0628	216	c.480 others(231): Show c.480+608_480+609insTATATATAGATAATATCTATAATATAGATA ATATTATCTATATTATAGATATAGATAATATTATCTATATTATAGATATA GATAATATTATCTATATTATAGATATAGATAATATTATCTATATTATAGA TATAGATAATATTATCTATATTATAGATATAGATAATATCTATATCTATA TTATAGATATAAATATCTATATCTATAATATAGATA		KIF17	ENSG00000117245.13	transcript	ENST00000400463.8	protein_coding	3/14						chr1	TogoVar
KIF1A_chr2_240708767_240825219	240780984	A A	AGCTCCAC others(209): Show AGCTCCACACACACACAGCTCCACACACACACACACAGCTCCACACACAC ACAGCTCCACACACACACACACACACACAGCTCCACACACACACACACAG CTCCACACACACACAGCTCCACACACACACACACACACACAGCTCCACAC ACACACAGCTCCACACACACACACACAGCTCCACACACACACACACAGCT CCACACACACACAGCTC	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0234 a0001c0004t0001g0234	1	330	0.0030	216	c.882 others(233): Show c.882+1605_882+1606insGAGCTGTGTGTGTGTGGAGCTGTGTGTG TGTGTGTGGAGCTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGGAGCTG TGTGTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGGAGCTGTGTGTGTG TGTGTGGAGCTGTGTGTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGGA GCTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGGAGC		KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48						chr2	TogoVar
KLHDC4_chr16_87702812_87770986	87726345	G G	GCCGCGCC others(209): Show GCCGCGCCTCGCCCGTCTCCCCACGCCGCGCCTCGCCCGTCTCCCCACCC CGCGCCTCGCCCGTCTCCCCACCCCGCGCCTCGCCCGTCTCCCCACCCCG CGCCTCGCCCGTCTCCCCACGCCGCGCCTCGCCCGTCTCCCCACGCCGCG CCTCGCCCGTCTCCCCACGCCGCGCCTCGCCCGTCTCCCCACGCCACGCC TCGCCCGTCTCCCCACC	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	380	0.0026	216	c.759 others(231): Show c.759+419_759+420insGGTGGGGAGACGGGCGAGGCGTGGCGTGGG GAGACGGGCGAGGCGCGGCGTGGGGAGACGGGCGAGGCGCGGCGTGGGGA GACGGGCGAGGCGCGGCGTGGGGAGACGGGCGAGGCGCGGGGTGGGGAGA CGGGCGAGGCGCGGGGTGGGGAGACGGGCGAGGCGCGGGGTGGGGAGACG GGCGAGGCGCGGCGTGGGGAGACGGGCGAGGCGCGG		KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	7/11						chr16	TogoVar
KLHL6_chr3_183482551_183560706	183534073	C C	CCTTTAAA others(209): Show CCTTTAAAAGTACTTTACTTTTAAAGTACTTTAAAAGTACTTTACTTTTA AAGTACTTTAAAAGTACTTTACTTTTAAAGTACTTTAAAAGTACTTTACT TTTAAAGTACTTTAAAAGTACTTTACTTTTAAAGTACTTTAAAAGTACTT TACTTTTAAAGTACTTTAAAAGTACTTTACTTTTAAAGTACTTTAAAAGT ACTTTACTTTTAAAGTA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0092 a0001c0001t0092	a0001c0001t0092g0207 a0001c0001t0092g0207	1	298	0.0034	216	c.294 others(233): Show c.294-6064_294-6063insTACTTTAAAAGTAAAGTACTTTTAAAGT ACTTTAAAAGTAAAGTACTTTTAAAGTACTTTAAAAGTAAAGTACTTTTA AAGTACTTTAAAAGTAAAGTACTTTTAAAGTACTTTAAAAGTAAAGTACT TTTAAAGTACTTTAAAAGTAAAGTACTTTTAAAGTACTTTAAAAGTAAAG TACTTTTAAAGTACTTTAAAAGTAAAGTACTTTTAAAG		KLHL6	ENSG00000172578.12	transcript	ENST00000341319.8	protein_coding	1/6						chr3	TogoVar
KRT82_chr12_52388931_52411335	52409043	C C	CCTCCTCT others(209): Show CCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCACTCCCTCTCCCTCCTCTCCCTCTCCCTC CTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCT CCTCTCCCTCTCCCTCCTCTCCCTCCTCTCCCTCACTCTCCCTCTCCCTC ACTCTCCCTCTCCCTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0030 a0004c0004t0001g0030	1	370	0.0027	216	c.-27 others(227): Show c.-2767_-2766insTGAGGGAGAGGGAGAGTGAGGGAGAGGGAGAGTG AGGGAGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGA GGGAGAGGGAGTGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG		KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding					2709		chr12	TogoVar
LAMA5_chr20_62304065_62372312	62360614	A A	ATGGATAG others(209): Show ATGGATAGGTGGATGGGTGGGTGGAGGGATAGATGGGTGGGTGGGTGGGT GGGTGGAGGGATAGATGGGTGGGTGGGTGGGTGGAGGGATAGATGGGTGG GTGGGTGGGTGGAGGAATAGATGGGTGGGTGGGTGGGTGGGTGGAGGGAT AGATGGGTGGGTGGGTGGGTGGAGGGATAGATGGGTGGGTGGGTGGGTGG GTGGATGGATAGGTGGG	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0018 a0018	a0018c0116 a0018c0116	a0018c0116t0001 a0018c0116t0001	a0018c0116t0001g0070 a0018c0116t0001g0070	1	186	0.0054	216	c.450 others(233): Show c.450+1785_450+1786insCCCACCTATCCATCCACCCACCCACCCA CCCACCCATCTATCCCTCCACCCACCCACCCACCCATCTATCCCTCCACC CACCCACCCACCCACCCATCTATTCCTCCACCCACCCACCCACCCATCTA TCCCTCCACCCACCCACCCACCCATCTATCCCTCCACCCACCCACCCACC CACCCATCTATCCCTCCACCCACCCATCCACCTATCCA		LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	2/79						chr20	TogoVar
LMF1_chr16_848634_975984	857498	G G	GAGTGGTG others(209): Show GAGTGGTGTCTCGGGACGGGAGTGCAGTGGTGTCACGGGACGGGAGTGCA GTGGTGTCACGGGACGGGAGTGCAGTGGTGTCACGGGACGGGAGTGCAGT GGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGG TGTCACGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTG TCTCGGGACGGGTGTGC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0135 a0001c0001t0002g0135	1	294	0.0034	216	c.153 others(235): Show c.1530-2793_1530-2792insGCACACCCGTCCCGAGACACCACTGC ACACCCGTCCCGTGACACCACTGCACACCCGTCCCGTGACACCACTGCAC ACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACTC CCGTCCCGTGACACCACTGCACTCCCGTCCCGTGACACCACTGCACTCCC GTCCCGTGACACCACTGCACTCCCGTCCCGAGACACCACT		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10						chr16	TogoVar
LMF1_chr16_848634_975984	857498	G G	GAGTGGTG others(209): Show GAGTGGTGTCTCGGGACGGGAGTGCAGTGGTGTCACGGGACGGGAGTGCA GTGGTGTCACGGGACGGGAGTGCAGTGGTGTCTCGGGACGGGAGTGCAGT GGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGG TGTCACGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTG TCTCGGGACGGGTGTGC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0030 a0001c0004t0004g0030	1	294	0.0034	216	c.153 others(235): Show c.1530-2793_1530-2792insGCACACCCGTCCCGAGACACCACTGC ACACCCGTCCCGTGACACCACTGCACACCCGTCCCGTGACACCACTGCAC ACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACTC CCGTCCCGAGACACCACTGCACTCCCGTCCCGTGACACCACTGCACTCCC GTCCCGTGACACCACTGCACTCCCGTCCCGAGACACCACT		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10						chr16	TogoVar

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Search Results (Total: 10000 hits)