JoGo: Joint Open Genome and Omics Platform

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
EYS_chr6_63714980_65712226	65454073	T T	TCTATTTT others(307): Show TCTATTTTTCATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG CGACTACAGGCGCCCGCCACTACTCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACTGTTTTAGCCGGGATGTTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCACGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0015 a0005c0010t0001g0015	1	24	0.0417	314	c.862 others(333): Show c.862+36520_862+36521insGGCCGGGCGTGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGAACATCCCGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGAGTAGTGGCGGGCGCCTGTAGTCGCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAATGAAAAATAG	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	5/42			chr6	TogoVar
EYS_chr6_63714980_65712226	65454073	T T	TCTATTTT others(307): Show TCTATTTTTCATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG CGACTACAGGCGCCCGCCACTACTCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACTGTTTTAGCCGGGATGTTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02622.hp1 HG03098.hp2 HG01169.hp2 HG02622.hp1 HG03098.hp2	a0003 a0009 a0016 a0003 a0009 a0016	a0003c0019 a0009c0006 a0016c0014 a0003c0019 a0009c0006 a0016c0014	a0003c0019t0001 a0009c0006t0001 a0016c0014t0001 a0003c0019t0001 a0009c0006t0001 a0016c0014t0001	a0003c0019t0001g0006 a0009c0006t0001g0004 a0016c0014t0001g0005 a0003c0019t0001g0006 a0009c0006t0001g0004 a0016c0014t0001g0005	3	24	0.1250	314	c.862 others(333): Show c.862+36520_862+36521insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGAACATCCCGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGAGTAGTGGCGGGCGCCTGTAGTCGCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAATGAAAAATAG	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	5/42			chr6	TogoVar
FAF1_chr1_50432028_50965267	50564278	A A	AGGACTCT others(307): Show AGGACTCTCTAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTG GAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCC GCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCA CCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCC TCGGCCTCCCAAAGT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	190	0.0053	314	c.126 others(333): Show c.1268+2798_1268+2799insACTTTGGGAGGCCGAGGCGGGCGGAT CACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGT CTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTA GTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAATTTAGAGAGTCC	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	13/18			chr1	TogoVar
FAM135B_chr8_138125023_138502261	138313722	T T	TAAGATAC others(307): Show TAAGATACAAGCTACGGCCGGGCGCGGTGGCTCGTGCCTGTAATCCTAGC ACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCTTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAATACAAAAAATTA GCCGGGCGTGTTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02965.hp2 HG03239.hp1 others(1): Show HG02809.hp2 HG02965.hp2 HG03239.hp1 HG03486.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0006 a0002c0002 a0007c0032 a0001c0006 a0002c0002 a0007c0032	a0001c0006t0002 a0002c0002t0001 a0002c0002t0020 others(1): Show a0001c0006t0002 a0002c0002t0001 a0002c0002t0020 a0007c0032t0005	a0001c0006t0002g0183 a0002c0002t0001g0038 a0002c0002t0020g0189 others(1): Show a0001c0006t0002g0183 a0002c0002t0001g0038 a0002c0002t0020g0189 a0007c0032t0005g0193	4	212	0.0189	314	c.78- others(329): Show c.78-2803_78-2802insTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCAACACGCCCGGCTAATTTTTTGTATTT TTAGTAGAAACGGGGTTTCACCGTGTTAGCCAAGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTAGGATTACAGGC ACGAGCCACCGCGCCCGGCCGTAGCTTGTATCTT	FAM135B	ENSG00000147724.12	transcript	ENST00000395297.6	protein_coding	2/19			chr8	TogoVar
FAT3_chr11_92219818_92901473	92875311	T T	TAAGATCC others(307): Show TAAGATCCTAGACAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCCGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0017 a0005c0004t0017	a0005c0004t0017g0058 a0005c0004t0017g0058	1	118	0.0085	314	c.121 others(335): Show c.12128-5406_12128-5405insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTC CGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAGATCCTAGACAG	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	22/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92875311	T T	TAAGATCC others(307): Show TAAGATCCTAGACAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01069.hp2 HG02615.hp2 others(2): Show HG00673.hp2 HG01069.hp2 HG02615.hp2 HG02723.hp1 HG03209.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0001c0005 a0005c0004 a0001c0002 a0001c0005 a0005c0004	a0001c0002t0078 a0001c0005t0019 a0005c0004t0006 a0001c0002t0078 a0001c0005t0019 a0005c0004t0006	a0001c0002t0078g0009 a0001c0005t0019g0089 a0005c0004t0006g0060 others(2): Show a0001c0002t0078g0009 a0001c0005t0019g0089 a0005c0004t0006g0060 a0005c0004t0006g0087 a0005c0004t0006g0111	5	118	0.0424	314	c.121 others(335): Show c.12128-5406_12128-5405insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAGATCCTAGACAG	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	22/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92875311	T T	TAAGATCC others(307): Show TAAGATCCTAGACAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTTAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp2 HG01884.hp2 HG02109.hp2	a0006 a0030 a0006 a0030	a0006c0077 a0030c0060 a0006c0077 a0030c0060	a0006c0077t0012 a0030c0060t0083 a0006c0077t0012 a0030c0060t0083	a0006c0077t0012g0081 a0030c0060t0083g0020 a0006c0077t0012g0081 a0030c0060t0083g0020	2	118	0.0170	314	c.121 others(335): Show c.12128-5406_12128-5405insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTTAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAGATCCTAGACAG	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	22/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FBP1_chr9_94598133_94644518	94625120	T T	TTAAAGTG others(307): Show TTAAAGTGAGAAGCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAT TAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGA GATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAA AAAAAAAAAATAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00408.hp1 others(109): Show HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01106.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01255.hp2 HG01358.hp2 HG01433.hp2 HG01516.hp1 HG01952.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02129.hp1 HG02129.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02523.hp1 HG02523.hp2 HG02698.hp2 HG02738.hp1 HG03239.hp2 HG03490.hp1 HG03492.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18612.hp2 NA18747.hp1 NA18943.hp1 NA18944.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18955.hp2 NA18957.hp2 NA18964.hp2 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18982.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp1 NA18997.hp2 NA18999.hp2 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19058.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp2 NA19080.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp1 NA19090.hp2 NA19240.hp2 NA20905.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0008	a0001c0001 a0001c0002 a0001c0004 others(7): Show a0001c0001 a0001c0002 a0001c0004 a0001c0013 a0001c0014 a0001c0017 a0003c0006 a0004c0008 a0005c0012 a0008c0009	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0005 a0001c0004t0001 a0001c0013t0001 a0001c0014t0001 a0001c0017t0001 a0003c0006t0001 a0004c0008t0001 a0005c0012t0001 a0008c0009t0002	a0001c0001t0001g0203 a0001c0001t0002g0009 a0001c0001t0002g0092 others(92): Show a0001c0001t0001g0203 a0001c0001t0002g0009 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0140 a0001c0001t0002g0190 a0001c0001t0002g0211 a0001c0001t0002g0246 a0001c0002t0001g0001 a0001c0002t0001g0010 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0083 a0001c0002t0001g0134 a0001c0002t0001g0171 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0210 a0001c0002t0001g0212 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0005g0260 a0001c0002t0005g0275 a0001c0002t0005g0282 a0001c0004t0001g0204 a0001c0004t0001g0205 a0001c0004t0001g0209 a0001c0004t0001g0221 a0001c0013t0001g0176 a0001c0014t0001g0213 a0001c0017t0001g0251 a0003c0006t0001g0214 a0004c0008t0001g0226 a0005c0012t0001g0195 a0008c0009t0002g0172	112	358	0.3129	314	c.171 others(331): Show c.171-4630_171-4629insTTTTATTTTTTTTTTTTTGAGACGGAGT CTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCA GGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTGCTTCTCACTTTA	FBP1	ENSG00000165140.12	transcript	ENST00000375326.9	protein_coding	1/6			chr9	TogoVar
FBP1_chr9_94598133_94644518	94625120	T T	TTAAAGTG others(307): Show TTAAAGTGAGAAGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAT TAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGA GATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAA AAAAAAAAAATAAAA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0186 a0001c0002t0001g0186	1	358	0.0028	314	c.171 others(331): Show c.171-4630_171-4629insTTTTATTTTTTTTTTTTTGAGACGGAGT CTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCA GGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCACCCGGCCTGCTTCTCACTTTA	FBP1	ENSG00000165140.12	transcript	ENST00000375326.9	protein_coding	1/6			chr9	TogoVar
FER1L6_chr8_123846987_124125061	124034159	A A	AGAAGAAG others(307): Show AGAAGAAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGC TAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGC GTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0011 a0011	a0011c0042 a0011c0042	a0011c0042t0002 a0011c0042t0002	a0011c0042t0002g0042 a0011c0042t0002g0042	1	196	0.0051	314	c.228 others(333): Show c.2287-1118_2287-1117insGAAGAAGGGCCGGGCGCGGTGGCTCA CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGC TACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAG	FER1L6	ENSG00000214814.7	transcript	ENST00000522917.5	protein_coding	18/40			chr8	TogoVar
FKBP15_chr9_113156006_113226277	113207344	A A	ACTAATTT others(307): Show ACTAATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAA GCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00621.hp2 HG00642.hp1 others(23): Show HG00323.hp1 HG00621.hp2 HG00642.hp1 HG00741.hp2 HG01099.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01257.hp1 HG01358.hp2 HG01993.hp1 HG02145.hp1 HG02258.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02717.hp1 HG02818.hp2 HG03041.hp1 HG03540.hp2 HG03669.hp2 HG04115.hp1 HG06807.hp2 NA18942.hp2 NA18977.hp1 NA21309.hp2	a0004 a0018 a0019 a0004 a0018 a0019	a0004c0005 a0018c0018 a0019c0017 a0004c0005 a0018c0018 a0019c0017	a0004c0005t0001 a0004c0005t0025 a0018c0018t0001 others(1): Show a0004c0005t0001 a0004c0005t0025 a0018c0018t0001 a0019c0017t0001	a0004c0005t0001g0017 a0004c0005t0001g0021 a0004c0005t0001g0041 others(21): Show a0004c0005t0001g0017 a0004c0005t0001g0021 a0004c0005t0001g0041 a0004c0005t0001g0043 a0004c0005t0001g0044 a0004c0005t0001g0047 a0004c0005t0001g0048 a0004c0005t0001g0061 a0004c0005t0001g0074 a0004c0005t0001g0088 a0004c0005t0001g0146 a0004c0005t0001g0150 a0004c0005t0001g0151 a0004c0005t0001g0181 a0004c0005t0001g0190 a0004c0005t0001g0192 a0004c0005t0001g0211 a0004c0005t0001g0233 a0004c0005t0001g0235 a0004c0005t0001g0266 a0004c0005t0001g0291 a0004c0005t0025g0293 a0018c0018t0001g0229 a0019c0017t0001g0244	26	410	0.0634	314	c.170 others(327): Show c.170-49_170-48insGCCGGGCGCGGTGGCTTACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAATTAG	FKBP15	ENSG00000119321.10	transcript	ENST00000238256.8	protein_coding	2/27			chr9	TogoVar
FKBP15_chr9_113156006_113226277	113207344	A A	ACTAATTT others(307): Show ACTAATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0023 a0004c0005t0023	a0004c0005t0023g0264 a0004c0005t0023g0264	1	410	0.0024	314	c.170 others(327): Show c.170-49_170-48insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAATTAG	FKBP15	ENSG00000119321.10	transcript	ENST00000238256.8	protein_coding	2/27			chr9	TogoVar
FKBP15_chr9_113156006_113226277	113207349	T T	TTTTTTTT others(307): Show TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGC TTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATG ATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCAC CGCGCCCGGCCTAAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0045 a0004c0005t0045	a0004c0005t0045g0257 a0004c0005t0045g0257	1	410	0.0024	314	c.170 others(327): Show c.170-54_170-53insTTTAGGCCGGGCGCGGTGGCTTACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATC GAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAG CCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA	FKBP15	ENSG00000119321.10	transcript	ENST00000238256.8	protein_coding	2/27			chr9	TogoVar
FRAS1_chr4_78052323_78549269	78368280	T T	TTCTAATG others(307): Show TTCTAATGAATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCACCCAGGCTGGAGTACAGTGGCGCAGCCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCC GAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTT TTTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCT CGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00558.hp2 HG00597.hp1 others(12): Show HG00280.hp2 HG00558.hp2 HG00597.hp1 HG00673.hp1 HG00735.hp1 HG02132.hp2 HG02293.hp1 HG02451.hp1 HG03017.hp1 HG03453.hp2 HG03491.hp2 NA18962.hp2 NA18975.hp1 NA18983.hp2 NA21309.hp1	a0002 a0005 a0007 others(8): Show a0002 a0005 a0007 a0009 a0019 a0021 a0037 a0055 a0058 a0068 a0082	a0002c0003 a0002c0052 a0005c0004 others(9): Show a0002c0003 a0002c0052 a0005c0004 a0007c0041 a0009c0096 a0019c0015 a0021c0023 a0037c0058 a0055c0026 a0058c0086 a0068c0087 a0082c0114	a0002c0003t0001 a0002c0052t0001 a0005c0004t0003 others(10): Show a0002c0003t0001 a0002c0052t0001 a0005c0004t0003 a0005c0004t0011 a0007c0041t0054 a0009c0096t0034 a0019c0015t0002 a0021c0023t0004 a0037c0058t0005 a0055c0026t0003 a0058c0086t0022 a0068c0087t0004 a0082c0114t0055	a0002c0003t0001g0017 a0002c0052t0001g0061 a0005c0004t0003g0073 others(12): Show a0002c0003t0001g0017 a0002c0052t0001g0061 a0005c0004t0003g0073 a0005c0004t0003g0077 a0005c0004t0003g0114 a0005c0004t0011g0137 a0007c0041t0054g0009 a0009c0096t0034g0141 a0019c0015t0002g0085 a0021c0023t0004g0175 a0037c0058t0005g0031 a0055c0026t0003g0063 a0058c0086t0022g0123 a0068c0087t0004g0162 a0082c0114t0055g0149	15	178	0.0843	314	c.272 others(333): Show c.2723-1543_2723-1542insTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTACAGTGGCGCAGCCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCTCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAA TTTTTTTTTTTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCT CCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA AGCGTGAGCCACCGCGCCCGGCCTCTAATGAATGTTTT	FRAS1	ENSG00000138759.20	transcript	ENST00000512123.4	protein_coding	22/73		INFO_REALIGN_3_PRIME	chr4	TogoVar
GAA_chr17_80096581_80124881	80113808	C C	CAAGAGTT others(307): Show CAAGAGTTCGAGGCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAAGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA19059.hp1 NA18974.hp1 NA19059.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0099 a0004c0005t0002g0140 a0004c0005t0002g0099 a0004c0005t0002g0140	2	416	0.0048	314	c.218 others(331): Show c.2189+458_2189+459insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAA GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAGAGTTCGAGGCCAG	GAA	ENSG00000171298.14	transcript	ENST00000302262.8	protein_coding	15/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
GABRG3_chr15_26966181_27546984	27520634	T T	TCCCAAAA others(307): Show TCCCAAAATCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTC CGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTGTATTTTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03516.hp2 HG03225.hp1 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0017 a0001c0003 a0001c0017	a0001c0003t0037 a0001c0017t0001 a0001c0003t0037 a0001c0017t0001	a0001c0003t0037g0018 a0001c0017t0001g0039 a0001c0003t0037g0018 a0001c0017t0001g0039	2	92	0.0217	314	c.865 others(329): Show c.865+521_865+522insTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACT GCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTGTAT TTTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCCCAAAATCTT	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GAL3ST2_chr2_241771822_241809287	241807988	G G	GCCCAGAG others(307): Show GCCCAGAGACCTCCGCAGGCCACTCTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CTTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACTCTCCCTCCCC CTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGG GACCTCCGCAGGCCACTCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCC TCCCTCCCTCCTCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	314	0.0032	314	c.38 others(325): Show c.3822_*3823insCCCAGAGACCTCCGCAGGCCACTCTCCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGG CCACTCTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTC CCCCCTCAACCCAGGGACCTCCGCAGGCCACTCTCCCTCCCCCCTCAGCC CAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCT GCAGGCCACCCTCCCTCCCTCCCTCCTCAA	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3702		chr2	TogoVar
GALNT13_chr2_153866922_154458979	153997453	T T	TATTGATT others(307): Show TATTGATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0188 a0001c0001t0010g0188	1	214	0.0047	314	c.142 others(333): Show c.142+52814_142+52815insATTGATTTCTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG GCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGC CCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGC CGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCC AAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	3/12			chr2	TogoVar
GALNT13_chr2_153866922_154458979	154298828	A A	ATTGTATA others(307): Show ATTGTATATATAAATTATATATACAATGTATATATAATTTATATATACAA TGTATATATAAATTATATATACATTGTATATACAATTTATATATACATTG TATATACAATTTATATATAAATTGTATATACAATGTATATATAAAATGTA TATACAATGTATATATAAATTGTATATACAATGTATATATAAATTGTATA TATAATTTATATATAAATTGTATATACAATTTATATATAAATTATATTAT TTATATATAGTATATATAAATATATATAATATATAAATTATATATTTATT TATATATTATATTAT	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0182 a0001c0001t0012g0182	1	214	0.0047	314	c.976 others(331): Show c.976-2579_976-2578insGTATATATAAATTATATATACAATGTAT ATATAATTTATATATACAATGTATATATAAATTATATATACATTGTATAT ACAATTTATATATACATTGTATATACAATTTATATATAAATTGTATATAC AATGTATATATAAAATGTATATACAATGTATATATAAATTGTATATACAA TGTATATATAAATTGTATATATAATTTATATATAAATTGTATATACAATT TATATATAAATTATATTATTTATATATAGTATATATAAATATATATAATA TATAAATTATATATTTATTTATATATTATATTATTT	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT9_chr12_132191372_132334589	132241874	A A	ACACACAC others(307): Show ACACACACGCCACACCCCCTTCCCGAGGCCCTCCCTATACCCATTACACA CACACCACACACCCTTCCAGGGGCCCTCCCTATACCCATTACACACATGC CACACACCCTTCCAGGGGCCCTCCCTATACCCATTACAAACACGCCACAC ACCCTTCCCAGGGCCGTCCCTATACCCATTACACACACAACACACACCCT TCCAGGGGTCCTCCCTATACCCATTACACACACGCCACACCCCCTTCCCG GGGCCGTCCCTATCCCCATTACACACACGCCACACCCCCTTCCCGGGGCC CTCCCTATACCCATT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03942.hp2 HG03017.hp1 HG03942.hp2	a0001 a0001	a0001c0006 a0001c0041 a0001c0006 a0001c0041	a0001c0006t0001 a0001c0041t0015 a0001c0006t0001 a0001c0041t0015	a0001c0006t0001g0098 a0001c0041t0015g0178 a0001c0006t0001g0098 a0001c0041t0015g0178	2	183	0.0109	314	c.107 others(333): Show c.1077+6035_1077+6036insAATGGGTATAGGGAGGGCCCCGGGAA GGGGGTGTGGCGTGTGTGTAATGGGGATAGGGACGGCCCCGGGAAGGGGG TGTGGCGTGTGTGTAATGGGTATAGGGAGGACCCCTGGAAGGGTGTGTGT TGTGTGTGTAATGGGTATAGGGACGGCCCTGGGAAGGGTGTGTGGCGTGT TTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGTGTGTGGCATGTGTGTA ATGGGTATAGGGAGGGCCCCTGGAAGGGTGTGTGGTGTGTGTGTAATGGG TATAGGGAGGGCCTCGGGAAGGGGGTGTGGCGTGTGTG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132242939	C C	CTCCCTAT others(307): Show CTCCCTATACCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCC TATACCCATTACACACACAACACACACCCTTCCCGGGGCCCTCCCTATAC CCATTACACACACGCCACACCCCCTTCCCGGGCCCTCCCTATACCCATTA CACACACGCCACACCCCCTTCCCGGGGCCTTCCCTATACCCATTACACAC ACGCCACACCCCCTTCCCGGGGCCCTCCCTATACCCATTACACACACAAC ACACACCCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACC CCCTTCCCGGGGCCT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	183	0.0055	314	c.107 others(333): Show c.1077+4970_1077+4971insAGGCCCCGGGAAGGGGGTGTGGCGTG TGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGTGTGTGTTGTGTGTGT AATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGG GTATAGGGAAGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATA GGGAGGGCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGG GCCCCGGGAAGGGTGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCC GGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGA	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GCNT4_chr5_75020346_75057558	75027968	T T	TCCCTTCG others(307): Show TCCCTTCGCTCCTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGATCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02145.hp2 HG02970.hp2 HG02145.hp2 HG02970.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0056 a0003c0003t0057 a0003c0003t0056 a0003c0003t0057	a0003c0003t0056g0055 a0003c0003t0057g0172 a0003c0003t0056g0055 a0003c0003t0057g0172	2	382	0.0052	314	c.70 others(323): Show c.707_*708insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGATCCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAGAGGAGCGAAGGG	GCNT4	ENSG00000176928.7	transcript	ENST00000652361.2	protein_coding	4/4	707		chr5	TogoVar
GDF2_chr10_47317454_47332588	47319409	T T	TAAATTTT others(307): Show TAAATTTTATCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGC GGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACC CCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCC TGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTG GGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG03688.hp1 NA18971.hp2 others(10): Show HG00673.hp2 HG03688.hp1 NA18971.hp2 NA18972.hp2 NA18985.hp1 NA18994.hp2 NA18995.hp1 NA19002.hp1 NA19003.hp1 NA19012.hp2 NA19076.hp1 NA19090.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0003g0001 others(1): Show a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0003g0001 a0001c0001t0006g0001	13	424	0.0307	314	c.-32 others(325): Show c.-3260_-3259insAAATTTTATCACGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGC TAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGC GTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GDF2	ENSG00000263761.3	transcript	ENST00000581492.3	protein_coding		3044		chr10	TogoVar
GET4_chr7_871554_901436	890415	C C	CGGGCCTG others(307): Show CGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGA GCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGG GTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGAC GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGA GCGAGAGTGGGTGTT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0272 a0001c0008t0001g0272	1	384	0.0026	314	c.467 others(329): Show c.467-493_467-492insCGCGAGCGGGTGTCAGGACGGGGTCTGGGA GTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAG CGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGG TGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACG GGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGA GTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAG CGAGAGTGGGTGTTGGGCCTGGGAGTGGAGGGAG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GET4_chr7_871554_901436	890415	C C	CGGGGTCT others(307): Show CGGGGTCTGGGAGTGGAGGGAGGGCGAGCGGGTGTTAGGACGGGCCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGA GCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGG GTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGAC GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGA GCGAGAGTGGGTGTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0023 a0001c0006t0023	a0001c0006t0023g0266 a0001c0006t0023g0266	1	384	0.0026	314	c.467 others(329): Show c.467-510_467-509insGTCTGGGAGTGGAGGGAGGGCGAGCGGGTG TTAGGACGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG TCTGGGAGTGGAGGGAGCGAGAGTGGGTGTTGGG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GGTLC2_chr22_22639614_22652898	22644846	T T	TTGCACTC others(307): Show TTGCACTCCAGCCTGGGCAACAAGTGCAAAACTCAGTCTCCAGATAAAAA AAAGAAAAAGAAAAAAAAGAGGCCGGGCGTGGTGGCTTATGCCTATAATC CTAGCACTTTGGGAGGTCGGGGCAGACGGATCACGAGATCAGGAGTTGGA GACCAGCCTGGCCAACAGAGTGAAACCCCGTCTCTAGTAAAAATACAAAT TTAGTCAGACATGGTGGCACGCGCCTGTAGTCCCAGCTACTCCGGCGGCT GAGACAGGAAAATCACTTGAACCCGGGGGCGGGGAAGGGATTGTGATGCG CTGAGATCGCGCCAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0263 a0001c0003t0007g0263	1	412	0.0024	314	c.-35 others(329): Show c.-35+159_-35+160insAGTGCAAAACTCAGTCTCCAGATAAAAAAA AGAAAAAGAAAAAAAAGAGGCCGGGCGTGGTGGCTTATGCCTATAATCCT AGCACTTTGGGAGGTCGGGGCAGACGGATCACGAGATCAGGAGTTGGAGA CCAGCCTGGCCAACAGAGTGAAACCCCGTCTCTAGTAAAAATACAAATTT AGTCAGACATGGTGGCACGCGCCTGTAGTCCCAGCTACTCCGGCGGCTGA GACAGGAAAATCACTTGAACCCGGGGGCGGGGAAGGGATTGTGATGCGCT GAGATCGCGCCACTGCACTCCAGCCTGGGCAACA	GGTLC2	ENSG00000100121.14	transcript	ENST00000448514.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
GGTLC2_chr22_22639614_22652898	22644846	T T	TTGCACTC others(307): Show TTGCACTCCAGCCTGGGCAACAAGTGCAAAACTCAGTCTCCAGATAAAAA AAAGAAAAAGAAAAAAAAGAGGCCGGGCGTGGTGGCTTATGCCTATAATC CTAGCACTTTGGGAGGTCGGGGCGGACGGATCACGAGATCAGGAGTTGGA GACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTAGTAAAAATACAAAT TTAGTCAGACATGGTGGCACGCGCCTGTAGTCCCAGCTACTCCGGCGGCT GAGACAGGAAAATCACTTGAACCCGGGGGCGGGGAAGGGATTGTGATGCG CTGAGATCGCGCCAC	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0264	1	412	0.0024	314	c.-35 others(329): Show c.-35+159_-35+160insAGTGCAAAACTCAGTCTCCAGATAAAAAAA AGAAAAAGAAAAAAAAGAGGCCGGGCGTGGTGGCTTATGCCTATAATCCT AGCACTTTGGGAGGTCGGGGCGGACGGATCACGAGATCAGGAGTTGGAGA CCAGCCTGGCCAACATAGTGAAACCCCGTCTCTAGTAAAAATACAAATTT AGTCAGACATGGTGGCACGCGCCTGTAGTCCCAGCTACTCCGGCGGCTGA GACAGGAAAATCACTTGAACCCGGGGGCGGGGAAGGGATTGTGATGCGCT GAGATCGCGCCACTGCACTCCAGCCTGGGCAACA	GGTLC2	ENSG00000100121.14	transcript	ENST00000448514.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
GGTLC2_chr22_22639614_22652898	22644846	T T	TTGCACTC others(307): Show TTGCACTCCAGCCTGGGCAACAAGTGCAAAACTCAGTCTCCAGATAAAGA AAAGAAAAAGAAAAAAAAGAGGCCGGGCGTGGTGGCTTATGCCTATAATC CTAGCACTTTGGGAGGTCGGGGCAGACGGATCACGAGATCAGGAGTTGGA GACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTAGTAAAAATACAAAT TTAGTCAGACATGGTGGCACGCGCCTGTAGTCCCAGCTGCTCCGGCGGCT GAGACAGGAGAATCACTTGAACCCGGGGGCGGGGAAGGGATTGTGATGCG CTGAGATCGCGCCAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02809.hp2 HG02572.hp2 HG02809.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0004 a0006c0011t0004	a0006c0011t0004g0040 a0006c0011t0004g0040	2	412	0.0049	314	c.-35 others(329): Show c.-35+159_-35+160insAGTGCAAAACTCAGTCTCCAGATAAAGAAA AGAAAAAGAAAAAAAAGAGGCCGGGCGTGGTGGCTTATGCCTATAATCCT AGCACTTTGGGAGGTCGGGGCAGACGGATCACGAGATCAGGAGTTGGAGA CCAGCCTGGCCAACATAGTGAAACCCCGTCTCTAGTAAAAATACAAATTT AGTCAGACATGGTGGCACGCGCCTGTAGTCCCAGCTGCTCCGGCGGCTGA GACAGGAGAATCACTTGAACCCGGGGGCGGGGAAGGGATTGTGATGCGCT GAGATCGCGCCACTGCACTCCAGCCTGGGCAACA	GGTLC2	ENSG00000100121.14	transcript	ENST00000448514.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
GINS1_chr20_25402673_25453563	25446388	T T	TTACAGTG others(307): Show TTACAGTGTGTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCCGGACTGCAGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCT CCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTG GGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGACTACAGGCGTGAG CCACCGCGCCCGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02559.hp2 HG02809.hp2 HG02559.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0016 a0001c0001t0009g0017 a0001c0001t0009g0016 a0001c0001t0009g0017	2	360	0.0056	314	c.41 others(323): Show c.412_*413insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCCGGACTGCAGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCC GCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGG ACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCA TGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGCC ACCGCGCCCGGCCTACAGTGTGTTTTTT	GINS1	ENSG00000101003.12	transcript	ENST00000262460.5	protein_coding	7/7	413	INFO_REALIGN_3_PRIME	chr20	TogoVar
GLIS3_chr9_3819127_4305068	3876693	G G	GGGAGGAA others(307): Show GGGAGGAAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGG AAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGAGGGGAAGGGA GGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAA GGGAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGAGGAAGG GAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGA GGGAGGGAAGGGAGGGAGGGAGGGGAAGGAAGGAAGGGAGGGAGGGGAAG GAAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0065 a0002c0002t0065	a0002c0002t0065g0152 a0002c0002t0065g0152	1	188	0.0053	314	c.229 others(333): Show c.2297+2733_2297+2734insTCCCTCCCTCCCTTCCTTCCCCTCCC TCCCTTCCTTCCTTCCCCTCCCTCCCTCCCTTCCCTCCCTCCCTCCCTCC CTTCCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCTCTCC CTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTCCCTTCCCCTCCCT CCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTTCCCCT CCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTTCCCCTCCCTTC CCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCC	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	8/10			chr9	TogoVar
GLIS3_chr9_3819127_4305068	3876693	G G	GGGAGGAA others(307): Show GGGAGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGGAAGGGAGGGAGG GAGGGGAAGGGAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGA GGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAA GGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGG GAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGA GGGAGGGAAGGGAGGGAGGGAGGGGAAGGAAGGAAGGGAGGGAGGGGAAG GAAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0039 a0002c0002t0015g0039	1	188	0.0053	314	c.229 others(333): Show c.2297+2733_2297+2734insTCCCTCCCTCCCTTCCTTCCCCTCCC TCCCTTCCTTCCTTCCCCTCCCTCCCTCCCTTCCCTCCCTCCCTCCCTCC CTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCC CTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCT CCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCC CTCCCTTCCCCTCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCT TCCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCTCC	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	8/10			chr9	TogoVar
GLIS3_chr9_3819127_4305068	3876693	G G	GGGAGGGA others(307): Show GGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGG GGAGGGGAAGGGAGGGAGGGGAAGGAAGGGAGGGAGGGAGGGGAAGGAAA GGAGGGAGGGAGGGGAAGGAAGGGAGGGAGGGGAAGGAAGGGAGGGAGGG GAAGGAAGGGAGGGAGGGGAAGGAAGGGAGGGAGGGAGGGGAAGGAAAGG AGGGAGGGAGGGGAAGGAAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGGA AGGAAGGGAGGGAGGGAGGGAGGGGAAGGAAGGGAGGGAGGGAGGGGAAG GAAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0053 a0002c0002t0053	a0002c0002t0053g0087 a0002c0002t0053g0087	1	188	0.0053	314	c.229 others(333): Show c.2297+2733_2297+2734insTCCCTCCCTCCCTTCCTTCCCCTCCC TCCCTCCCTTCCTTCCCCTCCCTCCCTCCCTCCCTTCCTTCCCCTCCCTC CCTCCCTTCCCCTCCCTCCCTTCCTTCCCCTCCCTCCCTCCTTTCCTTCC CCTCCCTCCCTCCCTTCCTTCCCCTCCCTCCCTTCCTTCCCCTCCCTCCC TTCCTTCCCCTCCCTCCCTTCCTTCCCCTCCCTCCCTCCTTTCCTTCCCC TCCCTCCCTCCCTTCCTTCCCCTCCCTCCCTTCCCCTCCCCTCCCTCCCT CCCTTCCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCC	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	8/10			chr9	TogoVar
GMDS_chr6_1618806_2250605	1897926	C C	CTTGCCAT others(307): Show CTTGCCATCCTGGACACCTATCCTGGCCTCCCTTGCCATCCTGGACACCT ACCCTGGCCTCCCTTTGCCATCCTGGACACCTACCCTGGCCTCCCTTGCC ATCCTGGACACCTATCCTGGCCTCCCTTTGCCATCCTGGACACCTACCCT GGCCTCCCTTGCCATCCTGGACACCTACCCTGGCCTCCCTTGCCATCCTG GACACCTACCCTGGCCTCCCTTTGCCATCCTGGACACCTATCCTGGCCAC CCTTGCCATCCTGGACACCTACCCTGGCCTCCCTTGCCATCCTGGACACC TACCCTGGCCACCCT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	166	0.0060	314	c.771 others(333): Show c.771+32176_771+32177insAGGGTGGCCAGGGTAGGTGTCCAGGA TGGCAAGGGAGGCCAGGGTAGGTGTCCAGGATGGCAAGGGTGGCCAGGAT AGGTGTCCAGGATGGCAAAGGGAGGCCAGGGTAGGTGTCCAGGATGGCAA GGGAGGCCAGGGTAGGTGTCCAGGATGGCAAGGGAGGCCAGGGTAGGTGT CCAGGATGGCAAAGGGAGGCCAGGATAGGTGTCCAGGATGGCAAGGGAGG CCAGGGTAGGTGTCCAGGATGGCAAAGGGAGGCCAGGGTAGGTGTCCAGG ATGGCAAGGGAGGCCAGGATAGGTGTCCAGGATGGCAA	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GNG13_chr16_793041_805734	795580	G G	GCCCTTCT others(307): Show GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC TTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTT CTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCT CCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCC AACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCGC CCCGCCCCTCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	422	0.0024	314	c.31 others(325): Show c.3138_*3139insGGGGGGAGGGGCGGGGCGGGGCGGGGCGGCACGG GGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGGCACGGGGCCG GGGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGG GGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGG CAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCA GCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGC CACACGGGCAGTGTGGTTGGGGGAGAAGGG	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2460		chr16	TogoVar
GPC6_chr13_93221807_94413020	94061740	T T	TGAGAAAG others(307): Show TGAGAAAGTGTATTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTG CAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCAC CGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTG TTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGC CTCCCAAAGTGCTGG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0035 a0001c0001t0016g0035	1	76	0.0132	314	c.877 others(333): Show c.877+33862_877+33863insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTG CGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGC CCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCG CCTCGGCCTCCCAAAGTGCTGGGAGAAAGTGTATTGTT	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
GRHL3_chr1_24314357_24360318	24345043	C C	CCTCCACA others(307): Show CCTCCACACCTGTGCCCCTCCACACCTGTGTCCCCTCCACACCTGTGCCC CCTCCACACCTGTGCCCCCTCCACACCTGTGCCCCCTCTACACCTGTGCC CCTCCACACCTGTGCCCCCTCCACACCTGTGCACCTCCACACCTGTGCCC CTCCACACCTGTGCCCCCTCTACACCTGTGCCCCTCCACACCTGTGCCCC CTTTACACCTGTGCCCCTCCACACCTGTGCCCCCTCTACACCTGTGCCCC CTCCACACCTGTGCCCCCTCTACACCTGTGCCCCTCCACACCTGTGCCCC CTCCACACCTGTGCA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp2 HG00733.hp1 others(88): Show HG00639.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01993.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03688.hp1 HG03704.hp2 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18964.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0008	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0016 a0002c0004 a0002c0022 a0004c0008 a0008c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0002t0001 a0001c0003t0001 a0001c0016t0002 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0002c0022t0002 a0004c0008t0002 a0004c0008t0010 a0008c0019t0001	a0001c0001t0001g0032 a0001c0001t0001g0047 a0001c0001t0001g0061 others(72): Show a0001c0001t0001g0032 a0001c0001t0001g0047 a0001c0001t0001g0061 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0112 a0001c0001t0001g0166 a0001c0001t0001g0197 a0001c0001t0001g0206 a0001c0001t0001g0247 a0001c0001t0002g0006 a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0027 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0046 a0001c0001t0002g0054 a0001c0001t0002g0058 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0079 a0001c0001t0002g0097 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0118 a0001c0001t0002g0123 a0001c0001t0002g0139 a0001c0001t0002g0153 a0001c0001t0002g0160 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0174 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0241 a0001c0001t0002g0246 a0001c0001t0002g0252 a0001c0001t0002g0266 a0001c0001t0002g0300 a0001c0001t0002g0302 a0001c0001t0002g0308 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0006g0242 a0001c0002t0001g0019 a0001c0002t0001g0117 a0001c0002t0001g0119 a0001c0003t0001g0039 a0001c0016t0002g0145 a0002c0004t0001g0009 a0002c0004t0001g0033 a0002c0004t0001g0043 a0002c0004t0001g0290 a0002c0004t0002g0003 a0002c0004t0002g0082 a0002c0004t0002g0083 a0002c0004t0002g0084 a0002c0004t0002g0267 a0002c0004t0002g0289 a0002c0004t0003g0293 a0002c0022t0002g0085 a0004c0008t0002g0081 a0004c0008t0002g0098 a0004c0008t0010g0073 a0008c0019t0001g0120	91	372	0.2446	314	c.145 others(331): Show c.1454+113_1454+114insTCCACACCTGTGCCCCTCCACACCTGTG TCCCCTCCACACCTGTGCCCCCTCCACACCTGTGCCCCCTCCACACCTGT GCCCCCTCTACACCTGTGCCCCTCCACACCTGTGCCCCCTCCACACCTGT GCACCTCCACACCTGTGCCCCTCCACACCTGTGCCCCCTCTACACCTGTG CCCCTCCACACCTGTGCCCCCTTTACACCTGTGCCCCTCCACACCTGTGC CCCCTCTACACCTGTGCCCCCTCCACACCTGTGCCCCCTCTACACCTGTG CCCCTCCACACCTGTGCCCCCTCCACACCTGTGCAC	GRHL3	ENSG00000158055.17	transcript	ENST00000361548.9	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
GRM5_chr11_88499642_89070982	88646597	T T	TAAAGAGT others(307): Show TAAAGAGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGG CTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGG CGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGA GAATGGCGTGAATCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCC ACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01081.hp1 NA18939.hp2 others(6): Show HG00099.hp1 HG01081.hp1 NA18939.hp2 NA18950.hp1 NA18957.hp2 NA18983.hp1 NA19065.hp1 NA19066.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0032 a0001c0001t0038	a0001c0001t0001g0038 a0001c0001t0001g0045 a0001c0001t0001g0046 others(6): Show a0001c0001t0001g0038 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0002g0091 a0001c0001t0002g0109 a0001c0001t0002g0142 a0001c0001t0011g0001 a0001c0001t0032g0113 a0001c0001t0038g0183	9	184	0.0489	314	c.114 others(333): Show c.1147+6570_1147+6571insTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGATTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCAGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCTACTCTTT	GRM5	ENSG00000168959.15	transcript	ENST00000305447.5	protein_coding	4/9			chr11	TogoVar
GSAP_chr7_77305751_77421349	77351448	T T	TAAGAGAA others(307): Show TAAGAGAAAAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGATATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTACAAATACAAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02723.hp1 HG02976.hp1 others(2): Show HG01891.hp2 HG02723.hp1 HG02976.hp1 HG03195.hp1 NA19043.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0002 a0007c0011t0002	a0007c0011t0002g0036 a0007c0011t0002g0139 a0007c0011t0002g0145 others(2): Show a0007c0011t0002g0036 a0007c0011t0002g0139 a0007c0011t0002g0145 a0007c0011t0002g0209 a0007c0011t0002g0311	5	352	0.0142	314	c.149 others(333): Show c.1491+1495_1491+1496insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTT GTATTTGTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA TATCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCTATTTTTCTCTT	GSAP	ENSG00000186088.16	transcript	ENST00000257626.12	protein_coding	18/30			chr7	TogoVar
GSE1_chr16_85608322_85681200	85653214	T T	TCCTCCTC others(307): Show TCCTCCTCCCCCCTCCTCCTCCCCCCTCCCACTCCTCCCCCCTCCTCCCC CCTCCCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCC CCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCCTCCTCCCCCCCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCC TCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCC TCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCC CCCCTCCTCCTCCTC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02818.hp1 HG02886.hp1 others(2): Show HG02647.hp1 HG02818.hp1 HG02886.hp1 HG02965.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0036 a0001c0002 a0001c0036	a0001c0002t0006 a0001c0036t0006 a0001c0002t0006 a0001c0036t0006	a0001c0002t0006g0184 a0001c0002t0006g0213 a0001c0002t0006g0281 others(2): Show a0001c0002t0006g0184 a0001c0002t0006g0213 a0001c0002t0006g0281 a0001c0002t0006g0285 a0001c0036t0006g0112	5	290	0.0172	314	c.427 others(331): Show c.427-1062_427-1061insTCCTCCCCCCTCCTCCTCCCCCCTCCCA CTCCTCCCCCCTCCTCCCCCCTCCCCCCCCTCCTCCCCCCTCCTCCCCCC TCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCC CTCCTCCCCCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCC CCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCC TCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCC CCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GSE1_chr16_85608322_85681200	85653223	T T	TCCCCCCT others(307): Show TCCCCCCTCCTCCTCCCCCCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCC CCCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCT CCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCC CCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCTCC TCCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCCCC CTCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCCC	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0004 a0001c0035t0004	a0001c0035t0004g0070 a0001c0035t0004g0070	1	290	0.0035	314	c.427 others(331): Show c.427-1053_427-1052insCCCCTCCTCCTCCCCCCTCTTCCCCCCT CCTCCCCCCTCCTCCTCCCCCCTCTTCCCCCCTCCTCCCCCCTCCTCCTC CCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCC CTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCC CCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCTCCTCCTCC CCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCCCCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCCCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GULP1_chr2_188286874_188600926	188298290	T T	TCTCACGC others(307): Show TCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCAT GAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTC TACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTC CCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCG GAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTG GGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02055.hp2 HG04228.hp2 HG00140.hp1 HG02055.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0105 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0105	3	162	0.0185	314	c.-17 others(333): Show c.-172+6124_-172+6125insCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGG CTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCC ACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GULP1	ENSG00000144366.17	transcript	ENST00000409830.6	protein_coding	1/11			chr2	TogoVar
HACL1_chr3_15555699_15606569	15590060	T T	TAAAAAAT others(307): Show TAAAAAATATCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGGCCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAAGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0083 a0005c0010t0001g0083	1	428	0.0023	314	c.309 others(329): Show c.309-449_309-448insTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCTTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGCCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCAGATATTTTTT	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	4/16			chr3	TogoVar
HACL1_chr3_15555699_15606569	15597657	T T	TGGATCAT others(307): Show TGGATCATAATCTTTGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGA TGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG06807.hp1 NA20129.hp1 HG02965.hp2 HG06807.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169	3	428	0.0070	314	c.187 others(331): Show c.187-1234_187-1233insGCCTGTAATCCCAGCACTTTGGGAGGCC GAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAACACAAAGATTATGATCC	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	2/16			chr3	TogoVar
HACL1_chr3_15555699_15606569	15597657	T T	TGGATCAT others(307): Show TGGATCATAATCTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGA TGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01167.hp1 HG03453.hp2 HG01069.hp1 HG01167.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0004t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0004t0001g0162	3	428	0.0070	314	c.187 others(331): Show c.187-1234_187-1233insGCCTGTAATCCCAGCACTTTGGGAGGCC GAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAACAAAGATTATGATCC	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	2/16			chr3	TogoVar
HCN1_chr5_45249948_45701380	45257948	C C	CAGTATGA others(307): Show CAGTATGAGTACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGT GGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACG CCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAG CCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCC CAAAGTGCTGGGATT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0010 a0001c0001t0032g0010	1	226	0.0044	314	c.39 others(325): Show c.3972_*3973insAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGA TCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCG TCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGT AGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGA GGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGC GACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAGTACTCATACT	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	8/8	3972		chr5	TogoVar
HCN2_chr19_584881_622159	602941	C C	CAGGCGCC others(307): Show CAGGCGCCTGGGGGGAAGGCACCGGCCTGAGGTGTGGGCACCCTCGCCCC CCAGGGAGGAATGCCCGGGGCTGGTCCCATAGGTGCCTGGGGGAAGGCAC CAGCCTGAGGTGTGGGCACCCTTGCCCCCCAGGGAGGAGTGCCCAGGGCT GGTCCTGCAGGCGCCTGGGGGGAAGGCACTGGCCTGAGGTGTGGGCACCC TCGTCCCCCAGGGAGGAATGCCCGGGGCTGGTCCCATAGGTGCCTGGGGG AAGGCACCAGCCTGAGGTGTGGGTGCCCCTCGCCCCCAGGGAGGAATGCC CGGGGCTGGTCCCAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02055.hp2 HG03130.hp1 others(1): Show HG01243.hp2 HG02055.hp2 HG03130.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0026 others(1): Show a0001c0001 a0001c0008 a0001c0026 a0001c0032	a0001c0001t0004 a0001c0008t0012 a0001c0026t0002 others(1): Show a0001c0001t0004 a0001c0008t0012 a0001c0026t0002 a0001c0032t0004	a0001c0001t0004g0229 a0001c0008t0012g0371 a0001c0026t0002g0057 others(1): Show a0001c0001t0004g0229 a0001c0008t0012g0371 a0001c0026t0002g0057 a0001c0032t0004g0100	4	408	0.0098	314	c.633 others(329): Show c.633-573_633-572insGTGTGGGCACCCTCGCCCCCCAGGGAGGAA TGCCCGGGGCTGGTCCCATAGGTGCCTGGGGGAAGGCACCAGCCTGAGGT GTGGGCACCCTTGCCCCCCAGGGAGGAGTGCCCAGGGCTGGTCCTGCAGG CGCCTGGGGGGAAGGCACTGGCCTGAGGTGTGGGCACCCTCGTCCCCCAG GGAGGAATGCCCGGGGCTGGTCCCATAGGTGCCTGGGGGAAGGCACCAGC CTGAGGTGTGGGTGCCCCTCGCCCCCAGGGAGGAATGCCCGGGGCTGGTC CCATAGGCGCCTGGGGGGAAGGCACCGGCCTGAG	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HDLBP_chr2_241222291_241320672	241264041	T T	TAAGAAAG others(307): Show TAAGAAAGAACAGCGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	354	0.0028	314	c.234 others(329): Show c.234+406_234+407insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGC TTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATG ATCCACCCGCCTCGGCCTCCCGCTGTTCTTTCTT	HDLBP	ENSG00000115677.18	transcript	ENST00000310931.10	protein_coding	4/27			chr2	TogoVar
HERC4_chr10_67916905_68080283	68044216	T T	TAAAAATA others(307): Show TAAAAATAGCAAATCAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATTCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAAACACAAAAAA TTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACGCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTGTCTCA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02451.hp1 HG03098.hp2 others(3): Show HG01106.hp2 HG02451.hp1 HG03098.hp2 HG03139.hp2 NA18906.hp2 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0196 a0001c0002t0005g0197 a0001c0002t0005g0198 others(3): Show a0001c0002t0005g0196 a0001c0002t0005g0197 a0001c0002t0005g0198 a0001c0002t0005g0319 a0001c0002t0005g0320 a0001c0002t0005g0321	6	360	0.0167	314	c.386 others(329): Show c.386+187_386+188insTTTTTTTTTTTTTTTTGAGACAGAGTCTCG CTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGCGTAGC TGGGACTACAGGCGCCCGCCACCACGCCCAGCTAATTTTTTGTGTTTTTT AGTAGAGACGGGGTTTCACTGTGTTAGCCAGAATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCTTGATTTGCTATTTTT	HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	4/24			chr10	TogoVar
HGS_chr17_81679011_81707121	81683623	T T	TAAAGGGT others(307): Show TAAAGGGTGAGTCCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG03579.hp1 HG02965.hp1 HG03579.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0063 a0003c0006t0002g0063	2	414	0.0048	314	c.-44 others(323): Show c.-444_-443insAAAGGGTGAGTCCCGGCCGGGCGCGGTGGCTCACGC CTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAG GAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAA ATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTAC TCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGC AGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAA	HGS	ENSG00000185359.14	transcript	ENST00000329138.9	protein_coding		387		chr17	TogoVar
HIVEP1_chr6_12007312_12169999	12101934	T T	TAAGAAAG others(307): Show TAAGAAAGCTGGAGTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0048 a0004c0004t0001g0048	1	344	0.0029	314	c.94+ others(331): Show c.94+12713_94+12714insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCG AGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGC CGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAGAAAGCTGGAGTGG	HIVEP1	ENSG00000095951.17	transcript	ENST00000379388.7	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr6	TogoVar

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Search Results (Total: 10000 hits)