Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
COMMD10_chr5_116080025_116298287	116158474	C C	CCTCTCTC others(162): Show CCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCT CTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTC CCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCCCCCTCT CCTCTCTCTCTCCCTCTCCT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0093 a0001c0002t0001g0093	1	350	0.0029	169	c.510 others(188): Show c.510+24297_510+24298insTCTCTCTCCCTCTCCTCTCTCTCCCT CTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCT CTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTC TCCCTCTCCTCTCTCCCCCTCTCCTCTCTCTCTCCCTCTCCTC	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158495	T T	TCTCCGTC others(162): Show TCTCCGTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCC CTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTC CTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTC TCTCCGTCTCCTCTCTCCCC	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA19011.hp1 NA18944.hp2 NA19011.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0038 a0002c0003t0001g0050 a0002c0003t0001g0038 a0002c0003t0001g0050	2	350	0.0057	169	c.510 others(188): Show c.510+24318_510+24319insTCCGTCTCCTCTCTCTCCCTCTCCTC TCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCT CCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTC TCCTCTCTCTCCCTCTCCTCTCTCTCCGTCTCCTCTCTCCCCC	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158501	T T	TCTCCTCT others(162): Show TCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCC TCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCT CTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCG TCTCCTCTCTCCCCCTCCCC	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18967.hp1 NA18957.hp1 NA18967.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0064 a0002c0003t0001g0066 a0002c0003t0001g0064 a0002c0003t0001g0066	2	350	0.0057	169	c.510 others(188): Show c.510+24324_510+24325insTCCTCTCTCTCCCTCTCCTCTCTCTC CCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCT CCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCT CTCTCCCTCTCCTCTCTCTCCGTCTCCTCTCTCCCCCTCCCCC	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD1_chr2_61900674_62141058	62139879	T T	TGCTGGGA others(162): Show TGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCTTTTATTTATTTAT TTATTTTTGAGAAGGAGTCTCACTCTGTCGCCCAGGGTGGAGTGCAGTGG TGCAATCTCTGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTC CTGTGTCAGCCTCCCGAGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	286	0.0035	169	c.39 others(180): Show c.3938_*3939insGCTGGGATTACAGGTGTGAGCCACCATGCCCAGC CTTTTATTTATTTATTTATTTTTGAGAAGGAGTCTCACTCTGTCGCCCAG GGTGGAGTGCAGTGGTGCAATCTCTGCTCACTGCAACCTCTGCCTCCCAG GTTCAAGCGATTCTCCTGTGTCAGCCTCCCGAGTA	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding		3822		chr2	TogoVar
CRYL1_chr13_20398669_20530857	20497481	C C	CACACACA others(162): Show CACACACAACTACACACACACCACCATACACACAACTACACACACCACAT ATACACACTACACACACGCCACCACACACACAACTACACACACACCACCA TACACACAACTACACACACCGCATATACACACCACACACACCACCATACA CACTACACACACACCACAAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02647.hp1 HG02109.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0209 a0001c0002t0001g0097 a0001c0001t0002g0209 a0001c0002t0001g0097	2	250	0.0080	169	c.150 others(186): Show c.150-7986_150-7985insATTGTGGTGTGTGTGTAGTGTGTATGGT GGTGTGTGTGGTGTGTATATGCGGTGTGTGTAGTTGTGTGTATGGTGGTG TGTGTGTAGTTGTGTGTGTGGTGGCGTGTGTGTAGTGTGTATATGTGGTG TGTGTAGTTGTGTGTATGGTGGTGTGTGTGTAGTTGTGTGT	CRYL1	ENSG00000165475.15	transcript	ENST00000298248.12	protein_coding	2/7			chr13	TogoVar
CTCFL_chr20_57492166_57530140	57526149	A A	AGGAGGAG others(162): Show AGGAGGAGGGCCCGCAGGAGGCACTGAGAGACTGGGGGGAGGGGTGGAAT GAGGAGGGGAGGAGAGCCCTGCAGGGGGCGCTGGGATACCTTGTGGGGGA ATGGATAAGGAGGGGAGGGGGTCCTGCAGGGGGCGCTGGGAGACCTAGGG GAGGGGAATGGATAAGGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02280.hp1 HG02559.hp2 others(5): Show HG02145.hp2 HG02280.hp1 HG02559.hp2 HG02809.hp2 HG03098.hp1 HG03195.hp2 HG03209.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0010 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0010 a0001c0004t0001 a0001c0004t0009	a0001c0001t0001g0228 a0001c0001t0001g0262 a0001c0001t0010g0333 others(4): Show a0001c0001t0001g0228 a0001c0001t0001g0262 a0001c0001t0010g0333 a0001c0004t0001g0136 a0001c0004t0001g0150 a0001c0004t0009g0029 a0001c0004t0009g0134	8	424	0.0189	169	c.-11 others(180): Show c.-1134_-1133insCACCCTTATCCATTCCCCTCCCCTAGGTCTCCCA GCGCCCCCTGCAGGACCCCCTCCCCTCCTTATCCATTCCCCCACAAGGTA TCCCAGCGCCCCCTGCAGGGCTCTCCTCCCCTCCTCATTCCACCCCTCCC CCCAGTCTCTCAGTGCCTCCTGCGGGCCCTCCTCC	CTCFL	ENSG00000124092.13	transcript	ENST00000243914.8	protein_coding		1010		chr20	TogoVar
CTCFL_chr20_57492166_57530140	57526178	G G	GACTGGGG others(162): Show GACTGGGGGGAGGGGTGGAATGAGGAGGGGAGGAGAGCCCTGCAGGGGGC GCTGGGATACCTTGTGGGGGAATGGATAAGGAGGGGAGGGGGTCCTGCAG GGGGCGCTGGGAGACCTAGGGGAGGGGAATGGATAAGGGTGGGAGGAGGG CCCGCAGGAGGCACTGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0126 a0003c0003t0001g0126	1	424	0.0024	169	c.-11 others(180): Show c.-1163_-1162insATCTCAGTGCCTCCTGCGGGCCCTCCTCCCACCC TTATCCATTCCCCTCCCCTAGGTCTCCCAGCGCCCCCTGCAGGACCCCCT CCCCTCCTTATCCATTCCCCCACAAGGTATCCCAGCGCCCCCTGCAGGGC TCTCCTCCCCTCCTCATTCCACCCCTCCCCCCAGT	CTCFL	ENSG00000124092.13	transcript	ENST00000243914.8	protein_coding		1039		chr20	TogoVar
CTSD_chr11_1747755_1768927	1754348	T T	TGAGGGGC others(162): Show TGAGGGGCATGGAGGGATGGAGGGGATGGAGGGGCATAGAGGGATGGAGG GGATGGAGGGGCATAGAGGGATGGAGGGGATGGAGGGGATGAAGGGATGG AGGGGCATGGAGGGATGGAGGGGATGGAGGGGCATAGAGGGATGGAGGGG ATGGAGGGGATGAAGGGATG	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	386	0.0026	169	c.828 others(184): Show c.828-211_828-210insCATCCCTTCATCCCCTCCATCCCCTCCATC CCTCTATGCCCCTCCATCCCCTCCATCCCTCCATGCCCCTCCATCCCTTC ATCCCCTCCATCCCCTCCATCCCTCTATGCCCCTCCATCCCCTCCATCCC TCTATGCCCCTCCATCCCCTCCATCCCTCCATGCCCCTC	CTSD	ENSG00000117984.15	transcript	ENST00000236671.7	protein_coding	6/8			chr11	TogoVar
CYLC1_chrX_83856146_83891698	83878434	A A	AATATATA others(162): Show AATATATATAAATATATATAAATATATATAAATATATATAAATATATATA AATATATATATAAATATATATAAATATATATAAATATATATAAATATATA TATAAATATATATAAATATATATAAATATATATAAATATATATATAAATA TATATAAATATATATAAAAT	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	208	0.0048	169	c.192 others(188): Show c.1923+3842_1923+3843insAATATATATAAATATATATATAAATA TATATAAATATATATAAATATATATAAATATATATATAAATATATATAAA TATATATAAATATATATAAATATATATATAAATATATATAAATATATATA AAATATATATATAAATATATATAAATATATATAAATATATATA	CYLC1	ENSG00000183035.13	transcript	ENST00000329312.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
CYP3A5_chr7_99643194_99684996	99675638	T T	TCTCCTCT others(162): Show TCTCCTCTCCTCCCCACTCCTCTCCCCTCCCCCTCCCCTCTCCCCTCCCC TCCCCTCTCCTCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCCTCCCC CCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCCTCCCCCCTCCCCTCC CCTCCTCCCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	292	0.0034	169	c.165 others(184): Show c.165+476_165+477insGGGAGGGGAGGGGGAGGAGGGGAGGGGAGG GGGGAGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGGGAGGGGGGAGGAGG GGAGGGGAGGGGGGAGGAGGGGAGGGGAGAGGAGAGGGGAGGGGAGGGGA GAGGGGAGGGGGAGGGGAGAGGAGTGGGGAGGAGAGGAG	CYP3A5	ENSG00000106258.16	transcript	ENST00000222982.8	protein_coding	2/12			chr7	TogoVar
CYP4F3_chr19_15635897_15667825	15650738	T T	TTCTTTTT others(162): Show TTCTTTTTCTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTTCCTTCCT TCCTTCCATCTTTCTTTCTTTCTTTTTCTTTCGTTCGTTCTTTCTTTCTT TCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTCTTTCTCTT TCTTTCTTTCTTTCTTTTCC	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18999.hp1 HG00544.hp2 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0014 a0001c0001t0003 a0001c0001t0014	a0001c0001t0003g0236 a0001c0001t0014g0219 a0001c0001t0003g0236 a0001c0001t0014g0219	2	424	0.0047	169	c.918 others(184): Show c.918+556_918+557insCTTTTTCTCTCTTTCTTTCTTTCTCTTTCT TTCTTTCTTTTCCTTCCTTCCTTCCATCTTTCTTTCTTTCTTTTTCTTTC GTTCGTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTC TTTCTTTCTCTTTCTCTTTCTTTCTTTCTTTCTTTTCCT	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15650738	T T	TTTTCTCT others(162): Show TTTTCTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTTCCTTCCTTCCT TCCATCTTTCTTTCTTTCTTTTTCTTTCGTTCGTTCTTTCTTTCTTTCTT TCTTTCTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTCTCTCTTTCTCTT TCTTTCTTTCTTTCTTTTCC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02572.hp2 HG02809.hp1 others(3): Show HG02486.hp2 HG02572.hp2 HG02809.hp1 HG02896.hp1 HG02922.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0018 a0001c0001t0020 a0001c0001t0033 others(1): Show a0001c0001t0018 a0001c0001t0020 a0001c0001t0033 a0001c0002t0001	a0001c0001t0018g0190 a0001c0001t0020g0164 a0001c0001t0020g0207 others(3): Show a0001c0001t0018g0190 a0001c0001t0020g0164 a0001c0001t0020g0207 a0001c0001t0033g0188 a0001c0001t0033g0189 a0001c0002t0001g0216	6	424	0.0142	169	c.918 others(184): Show c.918+557_918+558insTCTCTCTTTCTTTCTTTCTCTTTCTTTCTT TCTTTTCCTTCCTTCCTTCCATCTTTCTTTCTTTCTTTTTCTTTCGTTCG TTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTCTTTCT TTCTCTCTCTTTCTCTTTCTTTCTTTCTTTCTTTTCCTT	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15650738	T T	TTTTCTCT others(162): Show TTTTCTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTTCCTTCCTTCCT TCCATCTTTCTTTCTTTCTTTTTCTTTCGTTCGTTCTTTCTTTCTTTCTT TCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTCTTTCTCTT TCTTTCTTTCTTTCTTTTCC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00621.hp2 HG00673.hp1 others(28): Show HG00438.hp1 HG00621.hp2 HG00673.hp1 HG01257.hp1 HG01261.hp1 HG01952.hp1 HG02015.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02300.hp2 HG03688.hp1 HG04199.hp1 NA18941.hp1 NA18945.hp2 NA18946.hp2 NA18952.hp1 NA18957.hp2 NA18962.hp1 NA18966.hp1 NA18994.hp2 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19055.hp2 NA19058.hp2 NA19066.hp2 NA19079.hp1 NA19083.hp2 NA19085.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0024 others(6): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0040 a0001c0001t0059 a0001c0001t0079 a0001c0001t0080	a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 others(28): Show a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0228 a0001c0001t0002g0242 a0001c0001t0002g0257 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0282 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0290 a0001c0001t0002g0306 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0006g0217 a0001c0001t0006g0283 a0001c0001t0006g0305 a0001c0001t0024g0227 a0001c0001t0026g0288 a0001c0001t0027g0298 a0001c0001t0040g0230 a0001c0001t0059g0289 a0001c0001t0079g0281 a0001c0001t0080g0185	31	424	0.0731	169	c.918 others(184): Show c.918+557_918+558insTCTCTCTTTCTTTCTTTCTCTTTCTTTCTT TCTTTTCCTTCCTTCCTTCCATCTTTCTTTCTTTCTTTTTCTTTCGTTCG TTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTCT TTCTTTCTCTTTCTCTTTCTTTCTTTCTTTCTTTTCCTT	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYTH3_chr7_6156779_6277624	6259796	T T	TAATATAT others(162): Show TAATATATATATAATATATATATAATATATATATATTATATATATATAAT ATATATATATAATATATATATAATATATATATTATATATATATATATAAT ATATATATAATATATATATATAATATATATATAATATATATATTATATAT ATATATATAATATATATATA	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0320 a0001c0004t0006g0320	1	348	0.0029	169	c.34+ others(186): Show c.34+12677_34+12678insTATATATATATTATATATATATATATAA TATATATATTATATATATATTATATATATATATTATATATATATTATATA TATATATATAATATATATATTATATATATATTATATATATATATTATATA TATATAATATATATATATTATATATATATTATATATATATT	CYTH3	ENSG00000008256.17	transcript	ENST00000350796.8	protein_coding	1/12			chr7	TogoVar
DECR2_chr16_396885_417482	397695	T T	TGGGGGTG others(162): Show TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GTGGGGGGGTGAGGGAGTCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02622.hp2 HG02723.hp1 HG01884.hp2 HG02622.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	3	367	0.0082	169	c.-42 others(180): Show c.-4269_-4268insGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4189		chr16	TogoVar
DGAT1_chr8_144309584_144331852	144313723	G G	GCACCGCC others(162): Show GCACCGCCTCCCCGCCTCCCCGCCCCGCCTCCCCGCGCCTCCCCGCCTCC CCGCCCCGCCTCCCCGCACCGCCTCCCCGCACCGCCTCCCCGCGCCGCCT CCCCGCGCCGCCTCCCCGCGCCGCGCCGCCTCCCCGCGCCGCGCCGCCTC CCCGCCTCCCCGCGCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	370	0.0027	169	c.28 others(180): Show c.2830_*2831insAGGCGGCGCGGGGAGGCGGGGAGGCGGCGCGGCG CGGGGAGGCGGCGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGA GGCGGTGCGGGGAGGCGGTGCGGGGAGGCGGGGCGGGGAGGCGGGGAGGC GCGGGGAGGCGGGGCGGGGAGGCGGGGAGGCGGTG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		860		chr8	TogoVar
DGKQ_chr4_953887_978569	968179	C C	CGCCTCTC others(162): Show CGCCTCTCCTGCCCCGCCCCCCCCAACTCCTCCACCTCCCAGCACCCACC CAACCCCGCACCTCTCCTGCCCCACCCCCACCCCCTCCACCTCCCAGCAC CCACCCAACCCCGCACCTCTCCTGCCCCACCCCCACCCCCTCCACCTCCC AGCGCCCCCCTGGACCCCGT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0136 a0002c0003t0003g0136	1	438	0.0023	169	c.663 others(184): Show c.663+102_663+103insACGGGGTCCAGGGGGGCGCTGGGAGGTGGA GGGGGTGGGGGTGGGGCAGGAGAGGTGCGGGGTTGGGTGGGTGCTGGGAG GTGGAGGGGGTGGGGGTGGGGCAGGAGAGGTGCGGGGTTGGGTGGGTGCT GGGAGGTGGAGGAGTTGGGGGGGGCGGGGCAGGAGAGGC	DGKQ	ENSG00000145214.14	transcript	ENST00000273814.8	protein_coding	5/22			chr4	TogoVar
DIP2B_chr12_50499985_50753657	50593744	T T	TCCTCTCC others(162): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCT CCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0015 a0001c0003t0002g0015	1	284	0.0035	169	c.101 others(188): Show c.101-32230_101-32229insTCTCCTCTCCTCTCCTCTCCTCTCCT CTCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50598771	T T	TCCCCCTC others(162): Show TCCCCCTCTCCCCTCCCCTCCCCCTCCCCTCTTCCCCTCTCCCCTCCCCT CTTCCCCCTCTCCCCTCCCCTCTCCCCCCTCCCCTCTCCCCCTCTCCCCC TCCCCTCCCCTCTCCCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCC	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	284	0.0035	169	c.101 others(188): Show c.101-27201_101-27200insCTCTCCCCTCCCCTCCCCCTCCCCTC TTCCCCTCTCCCCTCCCCTCTTCCCCCTCTCCCCTCCCCTCTCCCCCCTC CCCTCTCCCCCTCTCCCCCTCCCCTCCCCTCTCCCCCCTCCCCTCCCCTC CTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCCCCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	516522	G G	GAGGGGGG others(162): Show GAGGGGGGAAGGGGCGAAGGGGAAGGGGGTAAGGTGGACAGTGGGACAGG GGAAGGGGGTAAGGGGGGGACAGGGGGTAGGGTGGGAGGGGGGGACGGGG TAGGGTGGGAGGGGGGGACGGGGTAGGGTGGGAGGGGGGGACGGGGTAGG GTGGGGGGGGACAGGGGGTA	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	88	0.0114	169	c.86- others(186): Show c.86-29993_86-29992insTACCCCCTGTCCCCCCCCACCCTACCCC GTCCCCCCCTCCCACCCTACCCCGTCCCCCCCTCCCACCCTACCCCGTCC CCCCCTCCCACCCTACCCCCTGTCCCCCCCTTACCCCCTTCCCCTGTCCC ACTGTCCACCTTACCCCCTTCCCCTTCGCCCCTTCCCCCCT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	1626059	T T	TGTTCCCA others(162): Show TGTTCCCACCTCTGCCCTGTGGTGGGTGCTCAGCCTCTGGGTGTGGGTTG GACGGCTGTTCCCATCTCTACCCTGCAGCGGGTGCTCACCCTCTGGGTGT GGGTTGGACGGCTGTTCCCATCTGTACCCTGTGGTGGGTGCTCAGCCTCT GGGTGTGGGTTGGACAGTCG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0015 a0001c0011t0015	a0001c0011t0015g0002 a0001c0011t0015g0002	1	40	0.0250	169	c.144 others(186): Show c.1443-681_1443-680insGTTCCCACCTCTGCCCTGTGGTGGGTGC TCAGCCTCTGGGTGTGGGTTGGACGGCTGTTCCCATCTCTACCCTGCAGC GGGTGCTCACCCTCTGGGTGTGGGTTGGACGGCTGTTCCCATCTGTACCC TGTGGTGGGTGCTCAGCCTCTGGGTGTGGGTTGGACAGTCG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	6/14			chr8	TogoVar
DLGAP2_chr8_732628_1713476	1626059	T T	TGTTCCCA others(162): Show TGTTCCCATCTCTGCCCTGTGGCGGGTGCTCAGCCTCTGGATGTGGGTTG GACGGCTGTTCCCACCTCTGCCCTGTGGTGGGTGCTCAGCCTCTGGGTGT GGGTTGGACGGTCGTTCCCATCTCTGGCCTGTGGTGGGTGCTCAGCCTCT GGGTGTGGGTTGGACGGTCG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0037 a0003c0005t0004g0037	1	40	0.0250	169	c.144 others(186): Show c.1443-681_1443-680insGTTCCCATCTCTGCCCTGTGGCGGGTGC TCAGCCTCTGGATGTGGGTTGGACGGCTGTTCCCACCTCTGCCCTGTGGT GGGTGCTCAGCCTCTGGGTGTGGGTTGGACGGTCGTTCCCATCTCTGGCC TGTGGTGGGTGCTCAGCCTCTGGGTGTGGGTTGGACGGTCG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	6/14			chr8	TogoVar
DNAJC4_chr11_64225548_64239281	64237126	G G	GAGAGAGA others(162): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGACAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGACAGAGACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	338	0.0030	169	c.29 others(180): Show c.2942_*2943insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGACAGAGACA	DNAJC4	ENSG00000110011.14	transcript	ENST00000628077.3	protein_coding		2846		chr11	TogoVar
DOK7_chr4_3458306_3499482	3490116	A A	ATTCCTTT others(162): Show ATTCCTTTCTTCACCCCCATTCATTCCTTTCTTCACCCCCTCATTCATTC CTTTTCTCCCTGCTCATTCATTCCTTCCTTCCCCACCCTGCTCATTCATT TCTTCCTCCGCCCCCCCCACTCATTCCTTCCCCCCTCATTCATTCCTTTC TTCACCCCCTCATTCATTCC	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0297 a0001c0001t0003g0297	1	404	0.0025	169	c.772 others(184): Show c.772+327_772+328insCTTCACCCCCATTCATTCCTTTCTTCACCC CCTCATTCATTCCTTTTCTCCCTGCTCATTCATTCCTTCCTTCCCCACCC TGCTCATTCATTTCTTCCTCCGCCCCCCCCACTCATTCCTTCCCCCCTCA TTCATTCCTTTCTTCACCCCCTCATTCATTCCTTCCTTT	DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
DOP1A_chr6_83062671_83173471	83145204	A A	AATATATA others(162): Show AATATATATAATATGTATATATAATATATATATAATATGTATATATAATA TATATATAATATATATAATATATATATAATATATATATTATATATATTAT ATATATAATATATATATAATATATATATAATATATATATAATATATATAT TTAAAAGTATATATATATAT	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18946.hp1 NA18939.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0146 a0001c0001t0001g0139 a0001c0001t0001g0146	2	298	0.0067	169	c.554 others(186): Show c.5542-317_5542-316insTATATAATATGTATATATAATATATATA TAATATGTATATATAATATATATATAATATATATAATATATATATAATAT ATATATTATATATATTATATATATAATATATATATAATATATATATAATA TATATATAATATATATATTTAAAAGTATATATATATATATA	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	24/38		INFO_REALIGN_3_PRIME	chr6	TogoVar
DUSP8_chr11_1549051_1577271	1551118	T T	TCCATCCA others(162): Show TCCATCCATCCACCCACCCATCCACCCCACTCATCCCTCTACCCATTCAT CATCTGCCTATCCATCCATCCAACCACCCACCCCACTCATCCCTCTACCC ATTCATCCATTTGCTCATCCATCCATCCACCCACCCACCCCACTCATCCC TCTACCCATTCATCCATCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0006 a0001c0001t0009g0006	1	367	0.0027	169	c.53 others(180): Show c.5399_*5400insCAGATGGATGAATGGGTAGAGGGATGAGTGGGGT GGGTGGGTGGATGGATGGATGAGCAAATGGATGAATGGGTAGAGGGATGA GTGGGGTGGGTGGTTGGATGGATGGATAGGCAGATGATGAATGGGTAGAG GGATGAGTGGGGTGGATGGGTGGGTGGATGGATGG	DUSP8	ENSG00000184545.11	transcript	ENST00000397374.8	protein_coding		2932		chr11	TogoVar
DYM_chr18_49031387_49465645	49440488	T T	TTATATAT others(162): Show TTATATATGACTATATATTATATATTTATATATGACTATATATTATATAT TTATATATGACTATATATTATATATTTATATATGACTATATATTATATAT ATATGACTATATATTATATATATAATATATGACTATATATTATATATATA ATATATGACTATATATTATA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0004 a0001c0003t0009g0004	1	290	0.0035	169	c.-53 others(188): Show c.-53-10042_-53-10041insTATAATATATAGTCATATATTATATA TATAATATATAGTCATATATTATATATATAATATATAGTCATATATATAT AATATATAGTCATATATAAATATATAATATATAGTCATATATAAATATAT AATATATAGTCATATATAAATATATAATATATAGTCATATATA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
DZIP3_chr3_108584722_108699840	108633875	A A	ATCTCTCT others(162): Show ATCTCTCTGGATCTATCAGAGTACTTCTGATAGATCTCTCTGGATCTATC AGAGTACTTCTGATAGATCTCTCTGGATCTATCAGAGTACTTCTGATAGA TCTCTCTGGATCTATCAGAGTACTTCTGATAGATCTCTCTGGATCTATCA GAGTACTTCTGATAGATCTC	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02257.hp2 HG02818.hp2 others(3): Show HG01975.hp2 HG02257.hp2 HG02818.hp2 HG02886.hp1 HG02965.hp1 NA18522.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0210 a0002c0003t0001g0212 a0002c0003t0001g0213 others(3): Show a0002c0003t0001g0210 a0002c0003t0001g0212 a0002c0003t0001g0213 a0002c0003t0001g0214 a0002c0003t0001g0215 a0002c0003t0001g0217	6	318	0.0189	169	c.816 others(184): Show c.816+822_816+823insGTACTTCTGATAGATCTCTCTGGATCTATC AGAGTACTTCTGATAGATCTCTCTGGATCTATCAGAGTACTTCTGATAGA TCTCTCTGGATCTATCAGAGTACTTCTGATAGATCTCTCTGGATCTATCA GAGTACTTCTGATAGATCTCTCTCTCTGGATCTATCAGA	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	9/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
EDDM13_chr19_56267748_56315454	56302581	C C	CTCCCTCC others(162): Show CTCCCTCCCCCCTTCCTTTTCTTCCTCCCCCTTTTCTTCCTCTCCCTCTT CCTCCCTCCCTCCTCCTCCCTTCCTTTTCTTCCTCCCCCCTTCCTTTTCT TCCTCCCCCTCTTCTTCCTCTCCCTCTTCCTCCCTCCCTCCTCCTCCCTT CCTTTTCTTCCTCCCCCCTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	396	0.0025	169	c.423 others(184): Show c.423+486_423+487insTCCCTCCCCCCTTCCTTTTCTTCCTCCCCC TTTTCTTCCTCTCCCTCTTCCTCCCTCCCTCCTCCTCCCTTCCTTTTCTT CCTCCCCCCTTCCTTTTCTTCCTCCCCCTCTTCTTCCTCTCCCTCTTCCT CCCTCCCTCCTCCTCCCTTCCTTTTCTTCCTCCCCCCTT	EDDM13	ENSG00000267710.9	transcript	ENST00000649256.2	protein_coding	13/14			chr19	TogoVar
EFNA5_chr5_107371894_107675937	107591917	T T	TATTATAT others(162): Show TATTATATATATTATATATAATATATTATATATATTATATATAATATATA TATATAATATATAATATATATATTATATATATTATATAATATATATAATA TATAATATATATATTATATATAATATATAATATATATAATATATAATATA TATATTATATATATTATATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0082 a0001c0001t0082	a0001c0001t0082g0012 a0001c0001t0082g0012	1	190	0.0053	169	c.125 others(188): Show c.125+78571_125+78572insTATATAATATATATAATATATATATT ATATATTATATATATTATATATTATATATAATATATATATTATATATTAT ATATATTATATAATATATATAATATATATATTATATATTATATATATATA TTATATATAATATATATAATATATTATATATAATATATATAAT	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EIF4G3_chr1_20801479_21181897	21179800	A A	ATATTATA others(162): Show ATATTATATATATTATATATTATATATAATACATTATATATATTATATAT TATATATAATACATTATATATATTATATAATATATATAATATATTATATA TAATATATAATATATTATATATATAATATAATATATATAATATATATAAT ATATATTATATATAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0274 a0001c0001t0003g0274	1	312	0.0032	169	c.-35 others(180): Show c.-3535_-3534insATATATTATATATAATATATATTATATATATTAT ATATATTATATTATATATATAATATATTATATATTATATATAATATATTA TATATATTATATAATATATATAATGTATTATATATAATATATAATATATA TAATGTATTATATATAATATATAATATATATAATA	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding		2904		chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21179800	A A	ATATTATA others(162): Show ATATTATATATATTATATATTATATATAATACATTATATATATTATATAT TATATATAATACATTATATATATTATATAATATATATAATATATTATATA TAATATATAATATATTATATATATAATATAATATATATAATATATATTTA ATATATTATATATAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01515.hp2 HG01517.hp2 others(37): Show HG01361.hp1 HG01515.hp2 HG01517.hp2 HG02004.hp2 HG02132.hp2 HG02280.hp1 HG02451.hp2 HG02523.hp2 HG02723.hp1 HG03225.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp1 HG03669.hp2 HG03834.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 NA18906.hp1 NA18948.hp1 NA18950.hp1 NA18952.hp2 NA18955.hp2 NA18957.hp2 NA18962.hp1 NA18966.hp2 NA18975.hp1 NA18979.hp2 NA18980.hp2 NA18987.hp1 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19064.hp2 NA19070.hp2 NA19090.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0005 a0001c0001t0012 others(5): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0022 a0001c0001t0027 a0001c0002t0026	a0001c0001t0003g0027 a0001c0001t0003g0239 a0001c0001t0003g0243 others(37): Show a0001c0001t0003g0027 a0001c0001t0003g0239 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0003g0265 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0001t0003g0279 a0001c0001t0005g0282 a0001c0001t0005g0283 a0001c0001t0005g0284 a0001c0001t0005g0285 a0001c0001t0005g0286 a0001c0001t0005g0287 a0001c0001t0005g0288 a0001c0001t0005g0289 a0001c0001t0005g0293 a0001c0001t0005g0294 a0001c0001t0012g0298 a0001c0001t0015g0308 a0001c0001t0015g0309 a0001c0001t0016g0035 a0001c0001t0022g0299 a0001c0001t0027g0307 a0001c0002t0026g0306	40	312	0.1282	169	c.-35 others(180): Show c.-3535_-3534insATATATTATATATAATATATTAAATATATATTAT ATATATTATATTATATATATAATATATTATATATTATATATAATATATTA TATATATTATATAATATATATAATGTATTATATATAATATATAATATATA TAATGTATTATATATAATATATAATATATATAATA	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding		2904		chr1	TogoVar
ELOVL6_chr4_110040846_110203615	110083967	G G	GATATAAC others(162): Show GATATAACATATGCTATATATCATATATATGATATATAACATATGTTATA TATGATATATATGATATATAGCATATGTTATATATGATATATAACATATA TATGATATATAACATATGTTATATATCATATATATGTTATATGCGATATA TAACATACGCCATATATGGT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0073 a0001c0001t0009g0073	1	338	0.0030	169	c.221 others(188): Show c.221+21529_221+21530insACCATATATGGCGTATGTTATATATC GCATATAACATATATATGATATATAACATATGTTATATATCATATATATG TTATATATCATATATAACATATGCTATATATCATATATATCATATATAAC ATATGTTATATATCATATATATGATATATAGCATATGTTATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110083978	T T	TGCTATAT others(162): Show TGCTATATATCATATATATGATATATAACATATGTTATATATGATATATA TGATATATAGCATATGTTATATATGATATATAACATATATATGATATATA ACATATGTTATATATCATATATATGTTATATGTCATATATAACATATGCT ATATGCGATATATAACATAC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0004 a0001c0001t0011g0004	1	338	0.0030	169	c.221 others(188): Show c.221+21518_221+21519insGTATGTTATATATCGCATATAGCATA TGTTATATATGACATATAACATATATATGATATATAACATATGTTATATA TCATATATATGTTATATATCATATATAACATATGCTATATATCATATATA TCATATATAACATATGTTATATATCATATATATGATATATAGC	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ERBB4_chr2_211370717_212543802	212373951	C C	CCATATAT others(162): Show CCATATATATATCCATATATATCCATATATATATATCCATATATATCCAT ATATATATATCCATATATATCCATATATATATATCCATATATATCCATAT ATATATATCCATATATATCCATATATATATATCCATATATATCCATATAT ATATATCCATATATATCCAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0046 a0001c0001t0009g0046	1	56	0.0179	169	c.82+ others(188): Show c.82+164497_82+164498insATGGATATATATGGATATATATATAT GGATATATATGGATATATATATATGGATATATATGGATATATATATATGG ATATATATGGATATATATATATGGATATATATGGATATATATATATGGAT ATATATGGATATATATATATGGATATATATGGATATATATATG	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERICH1_chr8_659200_736224	688310	C C	CCCGGCCC others(162): Show CCCGGCCCCTCCCCCGCCCCGCCCCGGCCCCGCCCCGCCCCGGCCCTTCC GCCGCCCCGCCCCGGCCCCTCCCCCGCCCCGCCCCGGCCCCGCCCCGCCC CGGCCCCTCCGCCGCCCCGCCCCGGCCCCTCCCCCGCCCCGCCCCGGCCC CTCCGCCGCCCCGCCCCGCT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	378	0.0027	169	c.304 others(186): Show c.304+4167_304+4168insAGCGGGGCGGGGCGGCGGAGGGGCCGGG GCGGGGCGGGGGAGGGGCCGGGGCGGGGCGGCGGAGGGGCCGGGGCGGGG CGGGGCCGGGGCGGGGCGGGGGAGGGGCCGGGGCGGGGCGGCGGAAGGGC CGGGGCGGGGCGGGGCCGGGGCGGGGCGGGGGAGGGGCCGG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
EXOC6B_chr2_72170984_72831033	72422680	G G	GTCTAGCT others(162): Show GTCTAGCTCAGGGATTGTAAACACACCAATCAGCACCCAGTGTTTAGCTC AAGGTTTGTGAGTGCACCAATCGACACTCTGTATCTAGCTGCTATGGTGG GGCCTTGGAGAACCTGTGTGTCCAAACTCTGTATCTAACTAATCTGATGA GGACATGGAGAACCTTTGTA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	104	0.0096	169	c.198 others(190): Show c.1980+42311_1980+42479dupTACAAAGGTTCTCCATGTCCTCAT CAGATTAGTTAGATACAGAGTTTGGACACACAGGTTCTCCAAGGCCCCAC CATAGCAGCTAGATACAGAGTGTCGATTGGTGCACTCACAAACCTTGAGC TAAACACTGGGTGCTGATTGGTGTGTTTACAATCCCTGAGCTAGA	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	18/21			chr2	TogoVar
FBXO34_chr14_55266421_55358611	55331769	A A	ATACACCA others(162): Show ATACACCACCGTGGTGTATATATAAAAATGTATATATACACCACCGTGGT GTATATATAAAAATGTATATATACACCACCGTGGTGTATATATAAAAATG TATATATACACCACCGTGGTGTATATATAAAAATGTATATATACACCACC GTGGTGTATATATAAAAATG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02886.hp1 HG03041.hp2 others(1): Show HG02818.hp1 HG02886.hp1 HG03041.hp2 HG03453.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0006	a0004c0004t0006g0324 a0004c0004t0006g0325 a0004c0004t0006g0327 others(1): Show a0004c0004t0006g0324 a0004c0004t0006g0325 a0004c0004t0006g0327 a0004c0004t0006g0329	4	334	0.0120	169	c.-10 others(188): Show c.-10-18610_-10-18609insCACCACCGTGGTGTATATATAAAAAT GTATATATACACCACCGTGGTGTATATATAAAAATGTATATATACACCAC CGTGGTGTATATATAAAAATGTATATATACACCACCGTGGTGTATATATA AAAATGTATATATACACCACCGTGGTGTATATATAAAAATGTA	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
FER1L5_chr2_96637764_96709883	96659354	C C	CTTTCTTT others(162): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0066 a0002c0001t0001g0066	1	226	0.0044	169	c.748 others(184): Show c.748-985_748-984insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	FER1L5	ENSG00000249715.13	transcript	ENST00000624922.6	protein_coding	9/52		INFO_REALIGN_3_PRIME	chr2	TogoVar
FOXD4L3_chr9_68297867_68310084	68301572	C C	CCACTGCA others(162): Show CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCTTCCCAGATAAAT AAACCAACCAAATTAGCTGCGCATGGTGGCGGGCGCCTGTAGTCCCAACT ACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTT GCAGTGGTCCTAGATTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp2 HG01884.hp2 HG01934.hp2 others(7): Show HG01169.hp2 HG01884.hp2 HG01934.hp2 HG02257.hp2 HG02717.hp1 HG02738.hp2 HG03688.hp2 NA18957.hp2 NA19067.hp2 NA19077.hp2	a0003 a0003	a0003c0004 a0003c0008 a0003c0004 a0003c0008	a0003c0004t0002 a0003c0008t0002 a0003c0004t0002 a0003c0008t0002	a0003c0004t0002g0000 a0003c0008t0002g0000 a0003c0004t0002g0000 a0003c0008t0002g0000	10	175	0.0571	169	c.-13 others(180): Show c.-1380_-1379insCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCTTCCCAGATAAATAAACCAACCAAATTAGCTGCGCATGGTGGCGGGCG CCTGTAGTCCCAACTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACC CGGGAGGCGGAGCTTGCAGTGGTCCTAGATTGTGT	FOXD4L3	ENSG00000187559.6	transcript	ENST00000342833.4	protein_coding		1294		chr9	TogoVar
FOXD4L3_chr9_68297867_68310084	68301572	C C	CCACTGCA others(162): Show CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCTTCCCAGATAAAT AAACCAACCAAATTAGCTGCGCGTGGTGGCGGGCGCCTGTAGTCCCAACT ACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTT GCAGTGGTCCTAGATTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00738.hp1 HG01074.hp2 others(16): Show HG00423.hp2 HG00738.hp1 HG01074.hp2 HG01361.hp2 HG02040.hp2 HG02886.hp1 HG03017.hp1 HG03130.hp2 NA18906.hp2 NA18939.hp1 NA18944.hp2 NA18961.hp2 NA18962.hp1 NA18987.hp2 NA18997.hp2 NA19055.hp2 NA19076.hp2 NA19080.hp2 NA19083.hp2	a0003 a0008 a0003 a0008	a0003c0004 a0003c0009 a0008c0010 a0003c0004 a0003c0009 a0008c0010	a0003c0004t0002 a0003c0004t0006 a0003c0009t0002 others(1): Show a0003c0004t0002 a0003c0004t0006 a0003c0009t0002 a0008c0010t0002	a0003c0004t0002g0000 a0003c0004t0006g0000 a0003c0009t0002g0000 others(1): Show a0003c0004t0002g0000 a0003c0004t0006g0000 a0003c0009t0002g0000 a0008c0010t0002g0000	19	175	0.1086	169	c.-13 others(180): Show c.-1380_-1379insCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCTTCCCAGATAAATAAACCAACCAAATTAGCTGCGCGTGGTGGCGGGCG CCTGTAGTCCCAACTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACC CGGGAGGCGGAGCTTGCAGTGGTCCTAGATTGTGT	FOXD4L3	ENSG00000187559.6	transcript	ENST00000342833.4	protein_coding		1294		chr9	TogoVar
GABRA3_chrX_152161234_152456315	152275347	A A	AATATATA others(162): Show AATATATATAATATATAATATATATTTAATATTATATATAATAAATATAT ATTTTAAATATAAAATATATATTTACATATTTATTTTAAATGTAAAATAT ATATTTACATATTTATTTTAAATATAAAATATATATTTACATATTTATTT TAAATATAAAAATATATATT	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	204	0.0049	169	c.330 others(186): Show c.330+9320_330+9321insAATATATATTTTTATATTTAAAATAAAT ATGTAAATATATATTTTATATTTAAAATAAATATGTAAATATATATTTTA CATTTAAAATAAATATGTAAATATATATTTTATATTTAAAATATATATTT ATTATATATAATATTAAATATATATTATATATTATATATAT	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	4/9			chrX	TogoVar
GALNT8_chr12_4715400_4777726	4732341	C C	CGGGAGGA others(162): Show CGGGAGGAGTGGCTAGAGATCTGTTCCTCTAGATGTCATCCAACCAACAA ACACTTTTTCAGTATCTTCTGCTGCACCGTTCAATATGATAGCTACTAGT CACACATGGCTACTTAAATGTAAATTAATTAAAATTATTTGCTTGAGGTG GTACACTGTGATTCTCTGCT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	338	0.0030	169	c.509 others(186): Show c.509+5588_509+5589insCGTTCAATATGATAGCTACTAGTCACAC ATGGCTACTTAAATGTAAATTAATTAAAATTATTTGCTTGAGGTGGTACA CTGTGATTCTCTGCTGGGAGGAGTGGCTAGAGATCTGTTCCTCTAGATGT CATCCAACCAACAAACACTTTTTCAGTATCTTCTGCTGCAC	GALNT8	ENSG00000130035.9	transcript	ENST00000252318.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
GALNT8_chr12_4715400_4777726	4732341	C C	CGGGAGGA others(162): Show CGGGAGGAGTGGCTAGAGATCTGTTCCTCTAGATGTCATCCAACCAACAA ACACTTTTTCAGTATCTTCTGCTGCACTGTTCAATATGATAGCTACTAGT CACACATGGCTACTTAAATGTAAATTAATTAAAATTATTTGCTTGAGGTG GTACACTGTGATTCTCTGCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00609.hp1 others(162): Show HG00140.hp1 HG00323.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01192.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02129.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03688.hp1 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18942.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18972.hp2 NA18973.hp2 NA18975.hp1 NA18977.hp2 NA18983.hp1 NA18983.hp2 NA18988.hp1 NA18989.hp2 NA18992.hp2 NA18993.hp1 NA18995.hp2 NA19000.hp1 NA19001.hp1 NA19002.hp2 NA19006.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19075.hp2 NA19077.hp1 NA19079.hp1 NA19081.hp2 NA19086.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0012 a0014 a0015 a0016 a0018 a0019 a0020	a0001c0001 a0002c0002 a0002c0018 others(15): Show a0001c0001 a0002c0002 a0002c0018 a0002c0020 a0003c0003 a0003c0004 a0003c0016 a0004c0005 a0005c0006 a0005c0010 a0006c0007 a0012c0017 a0014c0015 a0015c0021 a0016c0027 a0018c0023 a0019c0025 a0020c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0007 a0002c0018t0002 a0002c0020t0002 a0003c0003t0001 a0003c0003t0002 a0003c0004t0001 a0003c0016t0002 a0004c0005t0005 a0004c0005t0006 a0005c0006t0002 a0005c0010t0002 a0006c0007t0002 a0012c0017t0002 a0014c0015t0002 a0015c0021t0002 a0016c0027t0002 a0018c0023t0001 a0019c0025t0004 a0020c0024t0002	a0001c0001t0001g0032 a0001c0001t0001g0253 a0001c0001t0001g0254 others(138): Show a0001c0001t0001g0032 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0002g0249 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0057 a0001c0001t0003g0296 a0001c0001t0004g0014 a0001c0001t0004g0044 a0001c0001t0004g0049 a0002c0002t0001g0008 a0002c0002t0001g0102 a0002c0002t0001g0154 a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0005 a0002c0002t0002g0006 a0002c0002t0002g0017 a0002c0002t0002g0020 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0103 a0002c0002t0002g0105 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0124 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0002t0002g0135 a0002c0002t0002g0136 a0002c0002t0002g0137 a0002c0002t0002g0140 a0002c0002t0002g0145 a0002c0002t0002g0147 a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0002g0150 a0002c0002t0002g0151 a0002c0002t0002g0152 a0002c0002t0002g0153 a0002c0002t0002g0155 a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0158 a0002c0002t0002g0159 a0002c0002t0002g0160 a0002c0002t0002g0161 a0002c0002t0002g0163 a0002c0002t0002g0164 a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0175 a0002c0002t0002g0176 a0002c0002t0002g0177 a0002c0002t0002g0178 a0002c0002t0002g0179 a0002c0002t0002g0180 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0183 a0002c0002t0002g0184 a0002c0002t0002g0278 a0002c0002t0007g0138 a0002c0002t0007g0139 a0002c0018t0002g0020 a0002c0020t0002g0144 a0003c0003t0001g0018 a0003c0003t0001g0104 a0003c0003t0001g0126 a0003c0003t0001g0170 a0003c0003t0001g0171 a0003c0003t0001g0172 a0003c0003t0001g0173 a0003c0003t0001g0174 a0003c0003t0002g0169 a0003c0004t0001g0106 a0003c0004t0001g0107 a0003c0004t0001g0108 a0003c0004t0001g0141 a0003c0004t0001g0142 a0003c0004t0001g0143 a0003c0016t0002g0001 a0004c0005t0005g0252 a0004c0005t0005g0271 a0004c0005t0005g0272 a0004c0005t0005g0276 a0004c0005t0006g0256 a0004c0005t0006g0257 a0005c0006t0002g0031 a0005c0010t0002g0019 a0006c0007t0002g0007 a0012c0017t0002g0123 a0014c0015t0002g0162 a0015c0021t0002g0125 a0016c0027t0002g0250 a0018c0023t0001g0267 a0019c0025t0004g0014 a0020c0024t0002g0292	165	338	0.4882	169	c.509 others(186): Show c.509+5680_509+5681insTGGGAGGAGTGGCTAGAGATCTGTTCCT CTAGATGTCATCCAACCAACAAACACTTTTTCAGTATCTTCTGCTGCACT GTTCAATATGATAGCTACTAGTCACACATGGCTACTTAAATGTAAATTAA TTAAAATTATTTGCTTGAGGTGGTACACTGTGATTCTCTGC	GALNT8	ENSG00000130035.9	transcript	ENST00000252318.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
GALNT8_chr12_4715400_4777726	4732341	C C	CGGGAGGA others(162): Show CGGGAGGAGTGGCTAGAGATCTGTTCCTCTAGATGTCATCCAACCAACAA ACACTTTTTCAGTATCTTTTGCTGCACTGTTCAATATGATAGCTACTAGT CACACATGGCTACTTAAATGTAAATTAATTAAAATTATTTGCTTGAGGTG GTACACTGTGATTCTCTGCT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0060 a0005c0006t0002g0060	1	338	0.0030	169	c.509 others(186): Show c.509+5579_509+5580insTTGCTGCACTGTTCAATATGATAGCTAC TAGTCACACATGGCTACTTAAATGTAAATTAATTAAAATTATTTGCTTGA GGTGGTACACTGTGATTCTCTGCTGGGAGGAGTGGCTAGAGATCTGTTCC TCTAGATGTCATCCAACCAACAAACACTTTTTCAGTATCTT	GALNT8	ENSG00000130035.9	transcript	ENST00000252318.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
GALNT8_chr12_4715400_4777726	4732349	G G	GTGGCTAG others(162): Show GTGGCTAGAGATCTGTTCCTCTAGATGTCATCCAACCAACAAACACTTTT TCAGTATCTTCTGCTGCACTGTTCAATATGATAGCTACTAGTCACACATG GCTACTTAAATGTAAATTAATTAAAATTATTTGCTTGAGGTGGTACACTG TGATTCTCTGCTGGGAGGAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0002 a0001c0022t0002	a0001c0022t0002g0251 a0001c0022t0002g0251	1	338	0.0030	169	c.509 others(186): Show c.509+5680_509+5681insTGGGAGGATTGGCTAGAGATCTGTTCCT CTAGATGTCATCCAACCAACAAACACTTTTTCAGTATCTTCTGCTGCACT GTTCAATATGATAGCTACTAGTCACACATGGCTACTTAAATGTAAATTAA TTAAAATTATTTGCTTGAGGTGGTACACTGTGATTCTCTGC	GALNT8	ENSG00000130035.9	transcript	ENST00000252318.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
GALNT8_chr12_4715400_4777726	4732418	T T	TGTTCAAT others(162): Show TGTTCAATATGATAGCTACTAGTCACACATGGCTACTTAAATGTAAATTA ATTAAAATTATTTGCTTGAGGTGGTACACTGTGATTCTCTGCTGGGAGGA GTGGCTAGAGATCTGTTCCTCTAGATGTCATCCAACCAACAAACACTTTT TCAGTATCTTCTGCTGCACC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00738.hp1 HG01106.hp2 others(41): Show HG00558.hp2 HG00738.hp1 HG01106.hp2 HG01167.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01361.hp2 HG01496.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG02015.hp2 HG02056.hp2 HG02074.hp1 HG02080.hp2 HG02683.hp2 HG03239.hp2 HG03669.hp2 HG03688.hp2 HG03942.hp2 HG04184.hp1 HG04204.hp2 NA18941.hp1 NA18950.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18960.hp1 NA18962.hp2 NA18972.hp1 NA18977.hp1 NA18981.hp2 NA18984.hp1 NA18992.hp1 NA18999.hp2 NA19000.hp2 NA19005.hp2 NA19055.hp2 NA19074.hp1 NA19079.hp2 NA19085.hp1 NA20905.hp1	a0001 a0017 a0001 a0017	a0001c0001 a0017c0026 a0001c0001 a0017c0026	a0001c0001t0001 a0017c0026t0001 a0001c0001t0001 a0017c0026t0001	a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0016 others(37): Show a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0030 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0017c0026t0001g0078	44	338	0.1302	169	c.509 others(186): Show c.509+5680_509+5681insTGGGAGGAGTGGCTAGAGATCTGTTCCT CTAGATGTCATCCAACCAACAAACACTTTTTCAGTATCTTCTGCTGCACC GTTCAATATGATAGCTACTAGTCACACATGGCTACTTAAATGTAAATTAA TTAAAATTATTTGCTTGAGGTGGTACACTGTGATTCTCTGC	GALNT8	ENSG00000130035.9	transcript	ENST00000252318.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
GALNT8_chr12_4715400_4777726	4732424	A A	ATATGATA others(162): Show ATATGATAGCTACTAGTCACACATGGCTACTTAAATGTAAATTAATTAAA ATTATTTGCTTGAGGTGGTACACTGTGATTCTCTGCTGGGAGGAGTGGCT AGAGATCTGTTCCTCTAGATGTCATCCAACCAACAAACACTTTTTCAGTA TCTTCTGCTGCACTGTTCAG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00733.hp1 HG00735.hp2 others(13): Show HG00642.hp2 HG00733.hp1 HG00735.hp2 HG01070.hp1 HG01516.hp1 HG01517.hp1 HG02109.hp2 HG02145.hp1 HG02258.hp2 HG02965.hp1 HG02965.hp2 HG03540.hp2 HG03579.hp1 HG04228.hp1 NA18965.hp1 NA19240.hp2	a0001 a0009 a0013 a0001 a0009 a0013	a0001c0001 a0009c0013 a0013c0019 a0001c0001 a0009c0013 a0013c0019	a0001c0001t0001 a0001c0001t0002 a0009c0013t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0009c0013t0002 a0013c0019t0008	a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0286 others(12): Show a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0286 a0001c0001t0002g0027 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0291 a0009c0013t0002g0279 a0009c0013t0002g0295 a0013c0019t0008g0275	16	338	0.0473	169	c.509 others(186): Show c.509+5680_509+5681insTGGGAGGAGTGGCTAGAGATCTGTTCCT CTAGATGTCATCCAACCAACAAACACTTTTTCAGTATCTTCTGCTGCACT GTTCAGTATGATAGCTACTAGTCACACATGGCTACTTAAATGTAAATTAA TTAAAATTATTTGCTTGAGGTGGTACACTGTGATTCTCTGC	GALNT8	ENSG00000130035.9	transcript	ENST00000252318.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
GALNT8_chr12_4715400_4777726	4732510	C C	CGGGAGGA others(162): Show CGGGAGGAGTGGCTAGAGATCTGTTCCTCTAGATGTCATCCAACCAACAA ACACTTTTTCAGTATCTTCTGCTGCACCGTTCAGTATGATAGCTACTAGT CACACATGGCTACTTAAATGTAAATTAATTAAAATTATTTGCTTGAGGTG GTACACTGTGATTCTCTGCT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0264	1	338	0.0030	169	c.509 others(186): Show c.509+5757_509+5758insCGTTCAGTATGATAGCTACTAGTCACAC ATGGCTACTTAAATGTAAATTAATTAAAATTATTTGCTTGAGGTGGTACA CTGTGATTCTCTGCTGGGAGGAGTGGCTAGAGATCTGTTCCTCTAGATGT CATCCAACCAACAAACACTTTTTCAGTATCTTCTGCTGCAC	GALNT8	ENSG00000130035.9	transcript	ENST00000252318.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
GALNT8_chr12_4715400_4777726	4732558	A A	AAACACTT others(162): Show AAACACTTTTTCAGTATCTTCTGCTGCACTGTTCAATATGATAGCTACTA GTCACACATGGCTACTTAAATGTAAATTAATTAAAATTATTTGCTTGAGG TGGTACACTGTGATTCTCTGCTGGGAGGAGTGGCTAGAGATCTGTTCCTC TAGATGTCATCCAACCAACC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03540.hp1 HG02647.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0058 a0001c0001t0002g0059	2	338	0.0059	169	c.509 others(186): Show c.509+5897_509+5898insCAACACTTTTTCAGTATCTTCTGCTGCA CTGTTCAATATGATAGCTACTAGTCACACATGGCTACTTAAATGTAAATT AATTAAAATTATTTGCTTGAGGTGGTACACTGTGATTCTCTGCTGGGAGG AGTGGCTAGAGATCTGTTCCTCTAGATGTCATCCAACCAAC	GALNT8	ENSG00000130035.9	transcript	ENST00000252318.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr12	TogoVar

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