Joint Open Genome and Omics Platform (JoGo)

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Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

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)

Samplehapid

No_hapid

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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
DOP1A_chr6_83062671_83173471	83145192	A A	ATATATAT others(232): Show ATATATATAATATATATATAATATGTATATATATAATATATATATTATGT ATATATAATATATATATAATATATATATTATATATATATTATATATATAT AATATATATAATATATATATAATATATATATTATATATAATATATATATA ATATATATATTATATATAATATATATATATAATATATATATAATATATAT ATAATATATATAATATATATATAATATATATATTTAAAAG	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA19000.hp1 NA18947.hp1 NA19000.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0090 a0002c0002t0002g0107 a0002c0002t0002g0090 a0002c0002t0002g0107	2	298	0.0067	239	c.554 others(256): Show c.5542-324_5542-323insATATATATATAATATGTATATATATAAT ATATATATTATGTATATATAATATATATATAATATATATATTATATATAT ATTATATATATATAATATATATAATATATATATAATATATATATTATATA TAATATATATATAATATATATATTATATATAATATATATATATAATATAT ATATAATATATATATAATATATATAATATATATATAATATATATATTTAA AAGTATATATA	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	24/38		INFO_REALIGN_3_PRIME	chr6	TogoVar
DPEP1_chr16_89608642_89643433	89619404	T T	TGCTCCCC others(232): Show TGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCC CTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCC CTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCC TGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTC CATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCC	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	250	0.0040	239	c.-10 others(258): Show c.-107+5702_-107+5703insTCCATGCCCCCCGCTCCCCTCCCTGC AGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTC CCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGC CCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTG CAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTC CCCTCCCTGCAGC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DYM_chr18_49031387_49465645	49440994	A A	ATTTATAT others(232): Show ATTTATATAATATATGACTATATATTATATATTTATATAATATATGACTA TATATTATATATTTATATAATATATGACTATATATTATATATTTATATAA TATATGACTATATATTATATATTTATATATGACTATATATTATATATTTA TATAATATATGACTATATATTATATATTTATATAATATATTTATATAAAT ACATTATATTTTATATATTTATATAAATACATTATATTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0119 a0001c0001t0004g0119	1	290	0.0035	239	c.-53 others(258): Show c.-53-10548_-53-10547insAAAATATAATGTATTTATATAAATAT ATAAAATATAATGTATTTATATAAATATATTATATAAATATATAATATAT AGTCATATATTATATAAATATATAATATATAGTCATATATAAATATATAA TATATAGTCATATATTATATAAATATATAATATATAGTCATATATTATAT AAATATATAATATATAGTCATATATTATATAAATATATAATATATAGTCA TATATTATATAAA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
FARP1_chr13_98138094_98460176	98198909	C C	CCTGCTCC others(232): Show CCTGCTCCGCTCCCCCTCCCTGCTCCGCTCCCCCTCCCTGCTCCGCTCCC CCTCCCTGCTTCCCCCCCCGCCCCTCCCCGCTCCCCCACTCTGCCCCTCC CCGCCCCCCCCGCCCCTCCCCGCTTCCCCCTCTGCCCCTCCCCGCTTCCC CCTCTGCCCCTCCCCGCTTCCCCTTCTGCCCCTCCCCGCTCCCCGCTCCC GCTGCTCCCTCCCCCTCCATCCCTTCCCCCTCCCCCTCCA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp2 HG02258.hp1 HG01175.hp1 HG01175.hp2 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0006 a0001c0002t0001 a0001c0002t0006	a0001c0002t0001g0118 a0001c0002t0006g0064 a0001c0002t0006g0119 a0001c0002t0001g0118 a0001c0002t0006g0064 a0001c0002t0006g0119	3	218	0.0138	239	c.-23 others(258): Show c.-23-14310_-23-14309insTGCTCCGCTCCCCCTCCCTGCTCCGC TCCCCCTCCCTGCTCCGCTCCCCCTCCCTGCTTCCCCCCCCGCCCCTCCC CGCTCCCCCACTCTGCCCCTCCCCGCCCCCCCCGCCCCTCCCCGCTTCCC CCTCTGCCCCTCCCCGCTTCCCCCTCTGCCCCTCCCCGCTTCCCCTTCTG CCCCTCCCCGCTCCCCGCTCCCGCTGCTCCCTCCCCCTCCATCCCTTCCC CCTCCCCCTCCAC	FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
FARP1_chr13_98138094_98460176	98198909	C C	CCTGCTCC others(232): Show CCTGCTCCGCTCCCCCTCCCTGCTCCGCTCCCCCTCCCTGCTCCGCTCCC CCTCCCTGCTTCCCCCCCGCCCCTCCCCGCTCCCCCACTCTGCCCCTCCC CGCCCCCCCCCGCCCCTCCCCGCTTCCCCCTCTGCCCCTCCCCGCTTCCC CCTCTGCCCCTCCCCGCTTCCCCTTCTGCCCCTCCCCGCTCCCCGCTCCC GCTGCTCCCTCCCCCTCCATCCCTTCCCCCTCCCCCTCCA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0143 a0001c0002t0017g0143	1	218	0.0046	239	c.-23 others(258): Show c.-23-14310_-23-14309insTGCTCCGCTCCCCCTCCCTGCTCCGC TCCCCCTCCCTGCTCCGCTCCCCCTCCCTGCTTCCCCCCCGCCCCTCCCC GCTCCCCCACTCTGCCCCTCCCCGCCCCCCCCCGCCCCTCCCCGCTTCCC CCTCTGCCCCTCCCCGCTTCCCCCTCTGCCCCTCCCCGCTTCCCCTTCTG CCCCTCCCCGCTCCCCGCTCCCGCTGCTCCCTCCCCCTCCATCCCTTCCC CCTCCCCCTCCAC	FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
FARP1_chr13_98138094_98460176	98198909	C C	CCTGCTCC others(232): Show CCTGCTCCGCTCCCCCTCCCTGCTCCGCTCCCCCTCCCTGCTCCGCTCCC CCTCCCTGCTTCCCCCCCGCCCCTCCCCGCTCCCCCACTCTGCCCCTCCC CGCCCCCCCCGCCCCTCCCCGCTTCCCCCTCTGCCCCTCCCCGCTTCCCC CTCTGCCCCTCCCCGCTTCCCCTTCTGCCCCTCCCCGCTCCCCGCTCCCC GCTGCTCCCTCCCCCTCCATCCCTTCCCCCTCCCCCTCCA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0183 a0001c0001t0007g0183	1	218	0.0046	239	c.-23 others(258): Show c.-23-14310_-23-14309insTGCTCCGCTCCCCCTCCCTGCTCCGC TCCCCCTCCCTGCTCCGCTCCCCCTCCCTGCTTCCCCCCCGCCCCTCCCC GCTCCCCCACTCTGCCCCTCCCCGCCCCCCCCGCCCCTCCCCGCTTCCCC CTCTGCCCCTCCCCGCTTCCCCCTCTGCCCCTCCCCGCTTCCCCTTCTGC CCCTCCCCGCTCCCCGCTCCCCGCTGCTCCCTCCCCCTCCATCCCTTCCC CCTCCCCCTCCAC	FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
FBXO47_chr17_38931432_38972403	38946735	T T	TATATACA others(232): Show TATATACAATATATAAATATATATAAATATATACAATATATAAATATAAA TATATATAATATATAAATATATATAAATATATACAATATATAAATATATA TAAATATATATAATATATAAATATATATAAATATATACAATATATAAATA TATATATATAATATATAAAGATATATAAATATATAAATATATATAAATAT ATATAATATATAAATATATAAAAATATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	344	0.0029	239	c.617 others(256): Show c.617-1600_617-1599insTATATATATTTATATATTTTTATATATT TATATATTATATATATTTATATATATTTATATATTTATATATCTTTATAT ATTATATATATATATTTATATATTGTATATATTTATATATATTTATATAT TATATATATTTATATATATTTATATATTGTATATATTTATATATATTTAT ATATTATATATATTTATATTTATATATTGTATATATTTATATATATTTAT ATATTGTATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
FLACC1_chr2_201283271_201362345	201284695	G G	GGAGAGGG others(232): Show GGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGACGGGAGACGGGG AGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAG GGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAG GCGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAG GGAGAGGGAGACGAGAGGGAGAGGGAGAGGGAGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01433.hp2 HG01168.hp1 HG01169.hp1 HG01433.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0007 a0002c0002t0004 a0001c0001t0007 a0002c0002t0004	a0001c0001t0007g0125 a0002c0002t0004g0216 a0002c0002t0004g0217 a0001c0001t0007g0125 a0002c0002t0004g0216 a0002c0002t0004g0217	3	370	0.0081	239	c.39 others(250): Show c.3959_*3960insTCTCCCTCTCCCTCTCCCTCTCCCTCTCGTCTCC CTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCT CCCCGCCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCC CTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCT CCCTCTCCCCGTCTCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCGTCTCC CTCTC	FLACC1	ENSG00000155749.13	transcript	ENST00000392257.8	protein_coding		3575		chr2	TogoVar
FOXP1_chr3_70949708_71588728	71327315	G G	GAAGCAGC others(232): Show GAAGCAGCCTTCTTGGCTGCAACAGAAACGTCACTTGCAAGAGAACTGCA TTGTGTATAAATATGTACCCACAAATTATGAAATCTGACCACCAATCAAT TTCTTAACTTTTGGGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTTAGACAGTCTCCTTCCATTGTCCAGGCTGGAATGCAGTG GCACGATCTCCACTCACTGCAACCTCCGCCTCCTGGGTTC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0046 a0001c0001t0027g0046	1	96	0.0104	239	c.-72 others(258): Show c.-72-27436_-72-27435insGAACCCAGGAGGCGGAGGTTGCAGTG AGTGGAGATCGTGCCACTGCATTCCAGCCTGGACAATGGAAGGAGACTGT CTAACACACACACACACACACACACACACACACACACACACACACACCCC CCAAAAGTTAAGAAATTGATTGGTGGTCAGATTTCATAATTTGTGGGTAC ATATTTATACACAATGCAGTTCTCTTGCAAGTGACGTTTCTGTTGCAGCC AAGAAGGCTGCTT	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	4/20			chr3	TogoVar
FOXP1_chr3_70949708_71588728	71327315	G G	GAAGCAGC others(232): Show GAAGCAGCCTTCTTGGCTGCAACAGAAACGTCACTTGCAAGAGAACTGCA TTGTGTATAAATATGTACCCACAAATTATGAAATCTGACCACCAATCAAT TTCTTAACTTTTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTTAGACAGTCTCCTTCCATTGTCCAGGCTGGAATGCAGTG GCACGATCTCCACTCACTGCAACCTCCGCCTCCTGGGTTC	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG03704.hp2 HG01169.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0069 a0001c0001t0054 a0001c0001t0069	a0001c0001t0054g0058 a0001c0001t0069g0027 a0001c0001t0054g0058 a0001c0001t0069g0027	2	96	0.0208	239	c.-72 others(258): Show c.-72-27436_-72-27435insGAACCCAGGAGGCGGAGGTTGCAGTG AGTGGAGATCGTGCCACTGCATTCCAGCCTGGACAATGGAAGGAGACTGT CTAACACACACACACACACACACACACACACACACACACACACACACACC CCAAAAGTTAAGAAATTGATTGGTGGTCAGATTTCATAATTTGTGGGTAC ATATTTATACACAATGCAGTTCTCTTGCAAGTGACGTTTCTGTTGCAGCC AAGAAGGCTGCTT	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	4/20			chr3	TogoVar
FOXP1_chr3_70949708_71588728	71327315	G G	GAAGCAGC others(232): Show GAAGCAGCCTTCTTGGCTGCAACAGAAACGTCACTTGCAAGAGAACTGCA TTGTGTATAAATATGTACCCACAAATTATGAAATCTGACCACCAATCAAT TTCTTAACTTTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTTAGACAGTCTCCTTCCATTGTCCAGGCTGGAATGCAGTG GCACGATCTCCACTCACTGCAACCTCCGCCTCCTGGGTTC	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02922.hp1 HG03139.hp2 others(3): Show HG02132.hp2 HG02922.hp1 HG03139.hp2 HG03239.hp2 HG03704.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0050 a0001c0001t0053 others(3): Show a0001c0001t0049 a0001c0001t0050 a0001c0001t0053 a0001c0001t0061 a0001c0001t0073 a0001c0001t0076	a0001c0001t0049g0070 a0001c0001t0050g0095 a0001c0001t0053g0074 others(3): Show a0001c0001t0049g0070 a0001c0001t0050g0095 a0001c0001t0053g0074 a0001c0001t0061g0077 a0001c0001t0073g0072 a0001c0001t0076g0024	6	96	0.0625	239	c.-72 others(258): Show c.-72-27436_-72-27435insGAACCCAGGAGGCGGAGGTTGCAGTG AGTGGAGATCGTGCCACTGCATTCCAGCCTGGACAATGGAAGGAGACTGT CTAACACACACACACACACACACACACACACACACACACACACACACACA CCAAAAGTTAAGAAATTGATTGGTGGTCAGATTTCATAATTTGTGGGTAC ATATTTATACACAATGCAGTTCTCTTGCAAGTGACGTTTCTGTTGCAGCC AAGAAGGCTGCTT	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	4/20			chr3	TogoVar
GAL3ST2_chr2_241771822_241809287	241806532	A A	ACCCTCCC others(232): Show ACCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCTCAGCCCAGGGACCTC TGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC TTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	314	0.0032	239	c.23 others(250): Show c.2366_*2367insCCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCA GGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCC CTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCT CAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCTTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCTT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2246		chr2	TogoVar
GALNT17_chr7_71127144_71718599	71679927	T T	TCCTCCCT others(232): Show TCCTCCCTCTATCCCTTCCTCCTCCCTCTCTCCCTTCCTCCCTCCCGCTC TCTCTTTCTCCCTCCTGCTCTCTCTTCCTCCCTCCCTCTCTCCCTTCCTC CCTCCCTCTCTCTCTTCCTCCCTCCTCCTCTCCCTTCCTCCCTCCCTCTC TCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTC CCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	76	0.0132	239	c.150 others(258): Show c.1500+2630_1500+2631insATCCCTTCCTCCTCCCTCTCTCCCTT CCTCCCTCCCGCTCTCTCTTTCTCCCTCCTGCTCTCTCTTCCTCCCTCCC TCTCTCCCTTCCTCCCTCCCTCTCTCTCTTCCTCCCTCCTCCTCTCCCTT CCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCC TCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTT CCTCCCTCCCTCT	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALR1_chr18_77244848_77282900	77259174	G G	GATGGTGG others(232): Show GATGGTGGTCATGGTGGCGATTGTGGTGATGGTGGTGGATGGTGGTGGTG GTCACAGTGGTGGTGGTGTTGGTGTTGGTGGTGGTCATGGTGGTCATGGT GGTGATGACGGTGATGATGATGGTGGTCATGGTGGCGATTGTGGTGATGG TGGTGGATGGTGGTGGTGGTCACAGTGGTGGTGGTGTTGGTGTTGGTGGT GGTCATGGTGGTTATGGTGGTGATGATGGTCATGGTGGTC	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0294 a0001c0001t0003g0294	1	366	0.0027	239	c.732 others(256): Show c.732+2959_732+2960insCATGGTGGCGATTGTGGTGATGGTGGTG GATGGTGGTGGTGGTCACAGTGGTGGTGGTGTTGGTGTTGGTGGTGGTCA TGGTGGTCATGGTGGTGATGACGGTGATGATGATGGTGGTCATGGTGGCG ATTGTGGTGATGGTGGTGGATGGTGGTGGTGGTCACAGTGGTGGTGGTGT TGGTGTTGGTGGTGGTCATGGTGGTTATGGTGGTGATGATGGTCATGGTG GTCATGGTGGT	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GET4_chr7_871554_901436	889893	T T	TAGGACGG others(232): Show TAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGT CTGGGAGTGGAGGGAGCGTGAGCGGGTGTTAGGACGGGGTCTGGGAGTGG AGGGAGCGCAAGCGGGTGTTAGGACGGGGCCTGGGAGTGGAGGGAGCGCG AGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTC AGGACGGGGTCTGGGAGTGGAGGGAGCGTGAGCGGGTGTC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0002 a0001c0015t0002	a0001c0015t0002g0096 a0001c0015t0002g0096	1	384	0.0026	239	c.467 others(256): Show c.467-1027_467-1026insTCTGGGAGTGGAGGGAGCGCGAGCGGGT GTTAGGACGGGGTCTGGGAGTGGAGGGAGCGTGAGCGGGTGTTAGGACGG GGTCTGGGAGTGGAGGGAGCGCAAGCGGGTGTTAGGACGGGGCCTGGGAG TGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGC GCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGTGAGCGGGT GTCAGGACGGG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GFRA2_chr8_21685398_21793875	21697084	A A	ACAGAGGA others(232): Show ACAGAGGAAAGGGGAAGGGACAGAGGAGAAGGGAGGGGAGAGAAGGGGAA GGGGACAGAGGCAGAGGGGAAGGGACAGAGGAGAGGGGAGGGGACAGAGG AGAGGGGAGGGGACAGAGGGTAAGGGGACAGAGGAGGGGGGAGGGGACAC AGGAGAGGAGGGGACAGAGGATGAGGGAGGGAACAGAGGGGAGGGGAAGG GACAGAGGAGAGGGGAGGGGTCACAGGAGAGGGGAGGGGC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	322	0.0031	239	c.121 others(258): Show c.1219-2568_1219-2567insGCCCCTCCCCTCTCCTGTGACCCCTC CCCTCTCCTCTGTCCCTTCCCCTCCCCTCTGTTCCCTCCCTCATCCTCTG TCCCCTCCTCTCCTGTGTCCCCTCCCCCCTCCTCTGTCCCCTTACCCTCT GTCCCCTCCCCTCTCCTCTGTCCCCTCCCCTCTCCTCTGTCCCTTCCCCT CTGCCTCTGTCCCCTTCCCCTTCTCTCCCCTCCCTTCTCCTCTGTCCCTT CCCCTTTCCTCTG	GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	7/8			chr8	TogoVar
GMEB2_chr20_63582605_63632101	63609417	C C	CCACACAT others(232): Show CCACACATCCATTTCTAGAAACATGTCCCTCTGACCCACCTCCATTTCCA GAAACATGCCCCTCTGACCCACCTCCATTTCTAGAAACATGTCCCTCTGA CCCACACCTCCATTTCTAGAAACATGCCCCTGACCCCACACATCCATTTC TAGAAACATGCCCCTCTGACCCACCTCCATTTCCAGAAACATGCCCCTCT GACCCCACACATCCATTTCTAGAAACATGTCCCTCTGACT	intron_variant intron_variant	MODIFIER	HG01433.hp1 NA19074.hp2 HG01433.hp1 NA19074.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0024 a0001c0003t0002 a0001c0003t0024	a0001c0003t0002g0145 a0001c0003t0024g0167 a0001c0003t0002g0145 a0001c0003t0024g0167	2	330	0.0061	239	c.132 others(256): Show c.132-4578_132-4577insAGTCAGAGGGACATGTTTCTAGAAATGG ATGTGTGGGGTCAGAGGGGCATGTTTCTGGAAATGGAGGTGGGTCAGAGG GGCATGTTTCTAGAAATGGATGTGTGGGGTCAGGGGCATGTTTCTAGAAA TGGAGGTGTGGGTCAGAGGGACATGTTTCTAGAAATGGAGGTGGGTCAGA GGGGCATGTTTCTGGAAATGGAGGTGGGTCAGAGGGACATGTTTCTAGAA ATGGATGTGTG	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GRM5_chr11_88499642_89070982	88687572	T T	TTATATAT others(232): Show TTATATATATATATTATATATATTATATATATATAATATATATAATATAT ATATTATATATATATAATATATATATTATATATATATTATATATATTATA TATATATAATATATATAATATATATATTATATATATAATATATATATTAT ATATATATTATATATATATTATATATATATTATATGTATATAATATATAT ATAATATATATAATATATATATATTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0171 a0001c0001t0029g0171	1	184	0.0054	239	c.912 others(258): Show c.912-34170_912-34169insTATATATATATATATAATATATATAT ATTATATATATTATATATATATTATATACATATAATATATATATAATATA TATATAATATATATATAATATATATATTATATATATAATATATATATTAT ATATATTATATATATATAATATATATAATATATATATAATATATATATTA TATATATATAATATATATATTATATATATTATATATATATAATATATATA ATATATATATATA	GRM5	ENSG00000168959.15	transcript	ENST00000305447.5	protein_coding	3/9			chr11	TogoVar
GRTP1_chr13_113319163_113369130	113364444	A A	AGGAGGGG others(232): Show AGGAGGGGCAGGAGCGGGGGAGGGGCAGGGGAGCACCCAGGGCGGGGGAG GGGCGGGGCTGGGGGCGGGGAGGACTTGGGGACAGAGGAGGGGCAGGAGC GGGGGAGGGGGAGGGGCAGGGGAGCACCCAGGGCGGGGGAGGGGGCGGGG CTGGGGGGCGGGAGGACCTGGGGAGAGAGGAGGGGGGGGGGGGAGGGGGA GGGGAGAGAGGAGAGGGTGGGGGCGGGGCGGGGAATGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	288	0.0035	239	c.-39 others(248): Show c.-394_-393insGCCCATTCCCCGCCCCGCCCCCACCCTCTCCTCTCT CCCCTCCCCCTCCCCCCCCCCCCTCCTCTCTCCCCAGGTCCTCCCGCCCC CCAGCCCCGCCCCCTCCCCCGCCCTGGGTGCTCCCCTGCCCCTCCCCCTC CCCCGCTCCTGCCCCTCCTCTGTCCCCAAGTCCTCCCCGCCCCCAGCCCC GCCCCTCCCCCGCCCTGGGTGCTCCCCTGCCCCTCCCCCGCTCCTGCCCC TCC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding		315		chr13	TogoVar
GSE1_chr16_85608322_85681200	85653216	C C	CTCCCCCC others(232): Show CTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCTTCCCCCCTCCTCCCCC CTCCTCCTCCCCCCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCC TCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCC TCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCTCCCCCTC CTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0009 a0001c0001t0004g0009	1	290	0.0035	239	c.427 others(256): Show c.427-1062_427-1061insTCCCCCCTCCTCCCCCCTCCTCCTCCCC CCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCTTCCCCCCTCCTC CCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCC CTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCC CCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTC CTCCTCCTCCT	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15			chr16	TogoVar
GSE1_chr16_85608322_85681200	85653236	C C	CCCTCTTC others(232): Show CCCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCTTCCCCCCTCCT CCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCC CCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTC CTCCTCCTCCTCCCCCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCCTC CTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0144 a0001c0001t0004g0144	1	290	0.0035	239	c.427 others(256): Show c.427-1038_427-1037insTTCCCCCCTCCTCCCCCCTCCTCCTCCC CCCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCT CCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCT CCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCCCCTCCTCCTCCTCCC CCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCC TCCTCCTCCTC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GUCY1A2_chr11_106669019_107023476	106709791	A A	ATTATATA others(232): Show ATTATATACACGTATAGAATATATAGTTATATACACGTATAGAATATATA GTTATATACACGTATAGAATATATAGTTATATATTATATACACGTATAGA ATATATAGTTATATACACGTATAGAATATATAGTTATATACACGTATAGA ATATATAGTTATATATTATATACACGTATAGAATATATAGTTATATACAC GTATAGAATATATAGTTATATACACGTATAGAATATATAG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02109.hp1 HG03471.hp2 others(1): Show HG01433.hp1 HG02109.hp1 HG03471.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0003 a0001c0001t0002 a0001c0003t0003	a0001c0001t0002g0084 a0001c0003t0003g0238 a0001c0003t0003g0241 others(1): Show a0001c0001t0002g0084 a0001c0003t0003g0238 a0001c0003t0003g0241 a0001c0003t0003g0253	4	256	0.0156	239	c.183 others(258): Show c.1837-1126_1837-1125insCTATATATTCTATACGTGTATATAAC TATATATTCTATACGTGTATATAACTATATATTCTATACGTGTATATAAT ATATAACTATATATTCTATACGTGTATATAACTATATATTCTATACGTGT ATATAACTATATATTCTATACGTGTATATAATATATAACTATATATTCTA TACGTGTATATAACTATATATTCTATACGTGTATATAACTATATATTCTA TACGTGTATATAA	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7			chr11	TogoVar
HBQ1_chr16_175459_186179	186102	G G	GGAGGAAC others(232): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAAC AGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGG GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	239	c.49 others(250): Show c.4994_*4995insGAGGAACAGCGACACGGGGGAGGAACAGCGACAC GGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCG ACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAG GAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACAC GGGGA	HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding		4924		chr16	TogoVar
IFITM10_chr11_1727406_1755595	1754525	G G	GGGGATGG others(232): Show GGGGATGGAGGGATGGAGGGGATGGAGGGATGGAGGGGATGGAGGAATGG AGGAGATGGAGGGTCATGAAGAGTCACAGAGGGATGAGGGGATGGAGGGA TGGAGGGATGGAGGGGATGTGGGGATGGAGGGATGGAGGGATGGAGGGGA TGGAGGGATGGAGGGGATGGAGGGATGGAGGAGATGGAGGGTCATGAAGA GTCACAGAGGGATGTGGGGATGGAGGGATGGAGGGATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0147 a0001c0001t0022g0147	1	406	0.0025	239	c.-40 others(250): Show c.-4084_-4083insTCCATCCCTCCATCCCTCCATCCCCACATCCCTC TGTGACTCTTCATGACCCTCCATCTCCTCCATCCCTCCATCCCCTCCATC CCTCCATCCCCTCCATCCCTCCATCCCTCCATCCCCACATCCCCTCCATC CCTCCATCCCTCCATCCCCTCATCCCTCTGTGACTCTTCATGACCCTCCA TCTCCTCCATTCCTCCATCCCCTCCATCCCTCCATCCCCTCCATCCCTCC ATCCC	IFITM10	ENSG00000244242.2	transcript	ENST00000340134.5	protein_coding		3931		chr11	TogoVar
IQSEC3_chr12_61767_183455	103848	T T	TTCGGTGG others(232): Show TTCGGTGGGGAGGCGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAG GTGGGACTCAGGAGGGAGAGGTGGAGTTCGGGGGGAGGCAGGGCTGGGGG GAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCA GGAGGGAGAGGTGGAGTTCGGTGGGGAGGCAGGGCTCAGGGGGGAGGCGG GGCTCAGGGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0103 a0001c0007t0001g0103	1	282	0.0036	239	c.623 others(256): Show c.623+4636_623+4637insGGTGGGGAGGCGGGGCTCGGGGGGTAGG TGGGGGCTCAGGAGGGGAGGTGGGACTCAGGAGGGAGAGGTGGAGTTCGG GGGGAGGCAGGGCTGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTC AGGGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCA GGGCTCAGGGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCGGGAGGGG AGGCGGGGCTC	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
IRAG2_chr12_25047706_25113335	25077266	A A	AATATATA others(232): Show AATATATATATCATATATATATGAAATATATATATGATATATATATGAAA TATATATATCATATATATGAAATATATATATGATATATGAAATATATATA TGATATATGAAATATATATATGATATATGAAATATATATATGATATATAT ATGAAATATATATATGATATATATATGAAATATATATATGATATATATAT GAAATATATATATGATATATATATGAAATATATATATGAT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0179 a0002c0002t0001g0179	1	344	0.0029	239	c.25- others(254): Show c.25-1970_25-1969insATCATATATATATGAAATATATATATGATA TATATATGAAATATATATATCATATATATGAAATATATATATGATATATG AAATATATATATGATATATGAAATATATATATGATATATGAAATATATAT ATGATATATATATGAAATATATATATGATATATATATGAAATATATATAT GATATATATATGAAATATATATATGATATATATATGAAATATATATATGA TATATATAT	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
IRAG2_chr12_25047706_25113335	25077266	A A	AATATATA others(232): Show AATATATATCATATATATATGAAATATATATATGATATATATATGAAATA TATATATCATATATATATGAAATATATATATGATATATGAAATATATATA TGATATATGAAATATATATATGATATATGAAATATATATATGATATATAT ATGAAATATATATATGATATATATATGAAATATATATATGATATATATAT GAAATATATATATGATATATATATGAAATATATATATGAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA18982.hp1 HG00673.hp2 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0237 a0001c0001t0001g0238	2	344	0.0058	239	c.25- others(254): Show c.25-1970_25-1969insCATATATATATGAAATATATATATGATATA TATATGAAATATATATATCATATATATATGAAATATATATATGATATATG AAATATATATATGATATATGAAATATATATATGATATATGAAATATATAT ATGATATATATATGAAATATATATATGATATATATATGAAATATATATAT GATATATATATGAAATATATATATGATATATATATGAAATATATATATGA TATATATAT	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
JAKMIP1_chr4_6021199_6205549	6067649	A A	ACAGGTCA others(232): Show ACAGGTCACCCCCCTGAGCTCCAGGTTCACTCAAGCTCTTCTGCACACAC ACACACAGGTCACCCCCTGAGCTCCAGGTTCACTCAAGCTCTTCTGCACA CACAGGTCACCCCCCTGAGCTCCACGTTCACTCAAGCTCTTCTGCACACG CAGGTCACCCCCCTGAGCTCCACGTTCACTCAAGCTCTTCCGCACACACA GGTCACCCCCCTGAGCTCCACGTTCACTCAAGCTCTTCTG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03540.hp1 HG02622.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0193 a0001c0001t0001g0164 a0001c0001t0001g0193	2	233	0.0086	239	c.130 others(258): Show c.1303-2642_1303-2641insCAGAAGAGCTTGAGTGAACGTGGAGC TCAGGGGGGTGACCTGTGTGTGCGGAAGAGCTTGAGTGAACGTGGAGCTC AGGGGGGTGACCTGCGTGTGCAGAAGAGCTTGAGTGAACGTGGAGCTCAG GGGGGTGACCTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGG GGTGACCTGTGTGTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCA GGGGGGTGACCTG	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	8/20			chr4	TogoVar
JARID2_chr6_15241069_15527042	15469354	T T	TCCTCCCC others(232): Show TCCTCCCCTTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCT CTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCT CCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCC CCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCC CTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCC	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0065 a0001c0002t0013g0065	1	284	0.0035	239	c.670 others(254): Show c.670+637_670+638insCTCCCCTTCTCCCCCTCTCCCCCTCTCCCC CTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCT CTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCT CCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCC CCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCC CTCTCCCCC	JARID2	ENSG00000008083.14	transcript	ENST00000341776.7	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
JAZF1_chr7_27825577_28185795	28110504	A A	AAAGGAAA others(232): Show AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	206	0.0049	239	c.115 others(258): Show c.115+69958_115+69959insCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTT	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	1/4			chr7	TogoVar
KIF25_chr6_167992671_168050091	168035461	C C	CGGGGGGG others(232): Show CGGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGC TGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACG GCGCTGCGGGGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGGCG GGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGC GGGAACGGCGCTGCGGGGTGGGGGCGGGAACGGCGCTGCG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0068 a0001c0003t0004g0068	1	375	0.0027	239	c.317 others(256): Show c.317+1438_317+1439insGGCGGGAACGGCGCTGCGGGGCGGGGGG GCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGG GGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGGCGGGAACGGCGCTGCGG GGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGC GGGGCGGGGGGGCGGGAACGGCGCTGCGGGGTGGGGGCGGGAACGGCGCT GCGGGGGGGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KLHDC4_chr16_87702812_87770986	87726258	G G	GCCCGTCT others(232): Show GCCCGTCTCCCCACGCCGCGCCTCGCCCGTCTCCCCACCCCGCGCCTCGC CCGTCTCCCCACCCCGCGCCTCGCCCGTCTCCCCACGCCGCGCCTCGCCC GTCTCCCCACGCCGCGCCTCGCCCGTCTCCCCACCCCGCGCCTCGCCCGT CTCCCCACCCCGCGCCTCGCCCGTCTCCCCACCCCGCGCCTCGCCCGTCT CCCCACGCCGCGCCTCGCCCGTCTCCCCACGCCGCGCCTC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00438.hp2 others(40): Show HG00140.hp1 HG00280.hp1 HG00438.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG01243.hp1 HG01243.hp2 HG01361.hp1 HG01433.hp2 HG01952.hp2 HG01978.hp2 HG02040.hp2 HG02080.hp2 HG02135.hp1 HG02165.hp1 HG02273.hp2 HG02293.hp2 HG02630.hp1 HG02818.hp1 HG03139.hp2 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG04204.hp1 HG04228.hp2 NA18940.hp2 NA18945.hp1 NA18947.hp1 NA18954.hp1 NA18962.hp1 NA18981.hp2 NA18992.hp1 NA18999.hp1 NA19000.hp1 NA19003.hp2 NA19005.hp2 NA19010.hp2 NA19054.hp1 NA19074.hp1 NA20300.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0008	a0001c0001 a0001c0015 a0002c0002 others(2): Show a0001c0001 a0001c0015 a0002c0002 a0004c0004 a0008c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0015t0001 a0002c0002t0001 a0002c0002t0002 a0004c0004t0001 a0008c0008t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 others(40): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0056 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0094 a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0280 a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0001t0002g0055 a0001c0001t0006g0002 a0001c0015t0001g0082 a0002c0002t0001g0036 a0002c0002t0002g0171 a0004c0004t0001g0039 a0004c0004t0001g0053 a0004c0004t0001g0087 a0004c0004t0001g0101 a0004c0004t0001g0102 a0004c0004t0001g0105 a0008c0008t0001g0092 a0008c0008t0001g0144	43	380	0.1132	239	c.759 others(254): Show c.759+506_759+507insGAGGCGCGGCGTGGGGAGACGGGCGAGGCG CGGCGTGGGGAGACGGGCGAGGCGCGGGGTGGGGAGACGGGCGAGGCGCG GGGTGGGGAGACGGGCGAGGCGCGGGGTGGGGAGACGGGCGAGGCGCGGC GTGGGGAGACGGGCGAGGCGCGGCGTGGGGAGACGGGCGAGGCGCGGGGT GGGGAGACGGGCGAGGCGCGGGGTGGGGAGACGGGCGAGGCGCGGCGTGG GGAGACGGG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	7/11			chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87726258	G G	GCCCGTCT others(232): Show GCCCGTCTCCCCACGCCGCGCCTCGCCCGTCTCCCCACGCCGCGCCTCGC CCGTCTCCCCACCCCGCGCCTCGCCCGTCTCCCCACCCCGCGCCTCGCCC GTCTCCCCACGCCGCGCCTCGCCCGTCTCCCCACGCCGCGCCTCGCCCGT CTCCCCACCCCGCGCCTCGCCCGTCTCCCCACCCCGCGCCTCGCCCGTCT CCCCACGCCGCGCCTCGCCCGTCTCCCCACGCCGCGCCTC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	380	0.0026	239	c.759 others(254): Show c.759+506_759+507insGAGGCGCGGCGTGGGGAGACGGGCGAGGCG CGGCGTGGGGAGACGGGCGAGGCGCGGGGTGGGGAGACGGGCGAGGCGCG GGGTGGGGAGACGGGCGAGGCGCGGCGTGGGGAGACGGGCGAGGCGCGGC GTGGGGAGACGGGCGAGGCGCGGGGTGGGGAGACGGGCGAGGCGCGGGGT GGGGAGACGGGCGAGGCGCGGCGTGGGGAGACGGGCGAGGCGCGGCGTGG GGAGACGGG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	7/11			chr16	TogoVar
LCE1F_chr1_152770140_152782024	152775938	T T	TTCCAATA others(232): Show TTCCAATAGAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTG CAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCAC CGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	438	0.0023	239	c.-22 others(254): Show c.-22-398_-22-397insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCG GACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCC GCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTCCAA TAGAAATTT	LCE1F	ENSG00000240386.4	transcript	ENST00000334371.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr1	TogoVar
LCE1F_chr1_152770140_152782024	152775938	T T	TTCCAATA others(232): Show TTCCAATAGAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGGCTG CAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCAC CGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	438	0.0023	239	c.-22 others(254): Show c.-22-398_-22-397insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCG GGCTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCC GCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTCCAA TAGAAATTT	LCE1F	ENSG00000240386.4	transcript	ENST00000334371.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr1	TogoVar
LINGO2_chr9_27932617_29218601	28848053	A A	ATACACTA others(232): Show ATACACTATATATAGTGTATATATACTATATATATACACACTATATATAG TGTATATATACACTATATATACACACTATATATATAGTGTATATATATAT ATACACACTATATATGTAGTATATATACTATATATATACACACTATATAT AGTGTATATATACTATATATACACACTATATATAGTGTGTATATATACTA TATATACACTATATATAGTGTATATATACTATATATACAC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0036 a0001c0003t0009g0036	1	62	0.0161	239	c.-39 others(260): Show c.-395+99764_-395+99765insGTGTATATATAGTATATATACACT ATATATAGTGTATATATAGTATATATACACACTATATATAGTGTGTATAT ATAGTATATATACACTATATATAGTGTGTATATATATAGTATATATACTA CATATATAGTGTGTATATATATATATACACTATATATATAGTGTGTATAT ATAGTGTATATATACACTATATATAGTGTGTATATATATAGTATATATAC ACTATATATAGTGTA	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	2/6			chr9	TogoVar
LMF2_chr22_50497949_50512702	50504238	C C	CCCCCCCC others(232): Show CCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACC CCCCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCC CCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCC CCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTG CCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0001 a0001c0021t0001	a0001c0021t0001g0177 a0001c0021t0001g0177	1	414	0.0024	239	c.171 others(256): Show c.1718+101_1718+102insAGGGGGGGTGTGGAGCCCGGGGTGCAGG GGTAAGGCCGGGCACCGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGG CCGGGCACCGGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGC CGGGCACCGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGG GCACTGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACC GGGGGGGGGGG	LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13			chr22	TogoVar
LMF2_chr22_50497949_50512702	50504238	C C	CCCCCCCC others(232): Show CCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCC CCCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCC CCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCC CCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTG CCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0286 a0001c0002t0001g0286	1	414	0.0024	239	c.171 others(256): Show c.1718+101_1718+102insAGGGGGGGTGTGGAGCCCGGGGTGCAGG GGTAAGGCCGGGCACCGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGG CCGGGCACCGGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGC CGGGCACCGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCG GGCACTGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCAC CGGGGGGGGGG	LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13			chr22	TogoVar
LMF2_chr22_50497949_50512702	50504238	C C	CCCCCCCC others(232): Show CCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCC CCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCC CCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCC CGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCGGTG CCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0041 a0001c0009t0001g0041	1	414	0.0024	239	c.171 others(256): Show c.1718+101_1718+102insAGGGGGGGTGTGGAGCCCGGGGTGCAGG GGTAAGGCCGGGCACCGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAA GGCCGGGCACCGGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAG GCCGGGCACCGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGC CGGGCACTGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCA CCGGGGGGGGG	LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13			chr22	TogoVar
LOC128125818_chr4_6059977_6075162	6067649	A A	ACAGGTCA others(232): Show ACAGGTCACCCCCCTGAGCTCCAGGTTCACTCAAGCTCTTCTGCACACAC ACACACAGGTCACCCCCTGAGCTCCAGGTTCACTCAAGCTCTTCTGCACA CACAGGTCACCCCCCTGAGCTCCACGTTCACTCAAGCTCTTCTGCACACG CAGGTCACCCCCCTGAGCTCCACGTTCACTCAAGCTCTTCCGCACACACA GGTCACCCCCCTGAGCTCCACGTTCACTCAAGCTCTTCTG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03540.hp1 HG02622.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0054 a0001c0001t0000g0123 a0001c0001t0000g0054 a0001c0001t0000g0123	2	462	0.0043	239	c.106 others(256): Show c.106+2407_106+2408insCAGAAGAGCTTGAGTGAACGTGGAGCTC AGGGGGGTGACCTGTGTGTGCGGAAGAGCTTGAGTGAACGTGGAGCTCAG GGGGGTGACCTGCGTGTGCAGAAGAGCTTGAGTGAACGTGGAGCTCAGGG GGGTGACCTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGG TGACCTGTGTGTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGG GGGGTGACCTG	LOC128125818	ENSG00000284684.1	transcript	ENST00000636216.1	protein_coding	1/1			chr4	TogoVar
LUC7L_chr16_183990_234449	186102	G G	GGAGGAAC others(232): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGAGGAACAGCGACATGGAGGGAACAGCGACACGGGGGAGGAAC AGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGG GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	350	0.0029	239	c.30 others(250): Show c.3095_*3096insTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGT TCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTC GCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGT GTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCTCCATGTCGCTGTTCCTCC CCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGT TCCTC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2887		chr16	TogoVar
LUC7L_chr16_183990_234449	187190	G G	GGAGGAAC others(232): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGTC ACGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACA GCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGGGA ACAGCGACACGGGAGGGAGGAACAGCGACACGGGGGGAACAGCGACACGG AGGGAACAGCGACACGGGGGGAACAGCGACACGGGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0284	1	350	0.0029	239	c.20 others(250): Show c.2007_*2008insTCCCTCCCGTGTCGCTGTTCCCCCCGTGTCGCTG TTCCCTCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCTCCCGTGT CGCTGTTCCCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTGTTCCTCCCCG TGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCC TCCCGTGACGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGT TCCTC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		1799		chr16	TogoVar
MAD1L1_chr7_1810795_2237945	1929718	G G	GCCCCGTC others(232): Show GCCCCGTCCCCGTACTGCCACGTCCCCACTGCCCCGTCCCCTACTGCCAC GTCCCCACTGCCACGTCCCCCTCGCCCCGTCCCCACTGCCACGTCCCCCT CGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTC CCCTCGCCCCGTCCCCACTGCCACGTCCCCCTCGCCCGTCCCCACTGCCA CGTCCCCTTCGCCCCGTCCCCACTGCCACGTCCCCCTCGC	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0205 a0001c0004t0001g0205	1	264	0.0038	239	c.180 others(258): Show c.1807+6968_1807+6969insGCGAGGGGGACGTGGCAGTGGGGACG GGGCGAAGGGGACGTGGCAGTGGGGACGGGCGAGGGGGACGTGGCAGTGG GGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCA GTGGGGACGGGGCGAGGGGGACGTGGCAGTGGGGACGGGGCGAGGGGGAC GTGGCAGTGGGGACGTGGCAGTAGGGGACGGGGCAGTGGGGACGTGGCAG TACGGGGACGGGG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MADCAM1_chr19_491486_510343	496853	G G	GGGGGCGC others(232): Show GGGGGCGCAGGAGAGAGCAGGGGGCGCAGGAGAGAGGAGGGGGCGCGGGG AGAGGGGAGGGGGTGCGGGAGAGGGGAGGGGGCTCGGGGGAGAGGAAGGG GCGCGGTGAGCGGGGAGGGGACGCGGGAGAGAGGAGGGAGTTAGGAGGGG GGCTCAGGAGAGGGGAGGGGGCTCAGTAGAGTGGGGGGGGCTCAGGAGAG AGGAGGGACGCAGGAGAGAGGAGGGGCGCAGGGGAGAGGA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0002 a0004c0003t0002	a0004c0003t0002g0171 a0004c0003t0002g0171	1	364	0.0028	239	c.52+ others(252): Show c.52+318_52+319insCAGGGGGCGCAGGAGAGAGGAGGGGGCGCGGG GAGAGGGGAGGGGGTGCGGGAGAGGGGAGGGGGCTCGGGGGAGAGGAAGG GGCGCGGTGAGCGGGGAGGGGACGCGGGAGAGAGGAGGGAGTTAGGAGGG GGGCTCAGGAGAGGGGAGGGGGCTCAGTAGAGTGGGGGGGGCTCAGGAGA GAGGAGGGACGCAGGAGAGAGGAGGGGCGCAGGGGAGAGGAGGGGCGCAG GAGAGAG	MADCAM1	ENSG00000099866.16	transcript	ENST00000215637.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
MAP3K15_chrX_19355059_19520508	19477854	A A	AGGGGGGA others(232): Show AGGGGGGAGGGGGGAGAGGGGGAGAGGGGGAGGGGGGAGAGGGGGGAGAG GGGGGAGGGGGAGGGGGGAGAGGGGGGAGGGGGAGGGGGGAGGGGGCAGG GGGGAGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGG GAGGGGGGGGAGGGGGGAGGGGGGGGGAGGGGGGAGAGGGGGAGGGGGGA GGGGGAGGGGGGAGGGGGAGGGGGGGAGAGGGTGGGAGGG	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0151 a0001c0001t0006g0151	1	163	0.0061	239	c.525 others(256): Show c.525+8627_525+8628insCCCTCCCACCCTCTCCCCCCCTCCCCCT CCCCCCTCCCCCTCCCCCCTCCCCCTCTCCCCCCTCCCCCCCCCTCCCCC CTCCCCCCCCTCCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTC CCCCCTCTCCCCCCTGCCCCCTCCCCCCTCCCCCTCCCCCCTCTCCCCCC TCCCCCTCCCCCCTCTCCCCCCTCTCCCCCCTCCCCCTCTCCCCCTCTCC CCCCTCCCCCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MELTF_chr3_196996740_197034817	197032993	T T	TTTGGGTG others(232): Show TTTGGGTGTGAGCACCTGCAGTAGTGTGATGTCAGAGGATGTTACACTCT TGCCAACTGGTTGGGGTGTGAGCATCTGCAGTAGTGTGATGTCAGAGGAT GTTACACTCTTGCCAACTGGTTGGGGTGTGAGCATCTGCAGTAGTGTGAT GTCAGAGGATGTTACTCTCTTGCTGACTGGTTACTGTGTGAGCACCTGCA GTAGTGTGATGTCAGAGGATGTTACACTCTTGCTGACTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0273 a0001c0001t0003g0273	1	420	0.0024	239	c.-32 others(250): Show c.-3292_-3291insCCAGTCAGCAAGAGTGTAACATCCTCTGACATCA CACTACTGCAGGTGCTCACACAGTAACCAGTCAGCAAGAGAGTAACATCC TCTGACATCACACTACTGCAGATGCTCACACCCCAACCAGTTGGCAAGAG TGTAACATCCTCTGACATCACACTACTGCAGATGCTCACACCCCAACCAG TTGGCAAGAGTGTAACATCCTCTGACATCACACTACTGCAGGTGCTCACA CCCAA	MELTF	ENSG00000163975.14	transcript	ENST00000296350.10	protein_coding		3177		chr3	TogoVar
MELTF_chr3_196996740_197034817	197033777	T T	TGTGTGAG others(232): Show TGTGTGAGCACCTGCTGTAGTGTGATGTCAGAGGATGTTACACTCTTGCT GACGGGTTGGGGTGTCAGCATCTGCAGTAGTGTGATGTCAGAGGATGTTA CCCTCTTGCTGACTTGTTGGGGTGTGAGCACCTGCAGTAGTGTGATGTCA GAGGATGTTACACTCTTGCTGACTGGTTGGGTGTGAGCACCTGCAGTCGT GTGATGTCAGAAGATTTTACACTCTTGCTGACTGGTTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0014 a0014	a0014c0029 a0014c0029	a0014c0029t0021 a0014c0029t0021	a0014c0029t0021g0067 a0014c0029t0021g0067	1	420	0.0024	239	c.-40 others(250): Show c.-4076_-4075insCACAACCAGTCAGCAAGAGTGTAAAATCTTCTGA CATCACACGACTGCAGGTGCTCACACCCAACCAGTCAGCAAGAGTGTAAC ATCCTCTGACATCACACTACTGCAGGTGCTCACACCCCAACAAGTCAGCA AGAGGGTAACATCCTCTGACATCACACTACTGCAGATGCTGACACCCCAA CCCGTCAGCAAGAGTGTAACATCCTCTGACATCACACTACAGCAGGTGCT CACAC	MELTF	ENSG00000163975.14	transcript	ENST00000296350.10	protein_coding		3961		chr3	TogoVar
METRNL_chr17_83074609_83100122	83090506	A A	ACCCCCGC others(232): Show ACCCCCGCCCCACACACACACACACCCCCGCCCCACACACACACACCCCC GCCCCGCCCCAGGGTGGGAGCCACACACCCCCGCCCTGCCCCAGGGTGGG AGCCACACACACCCCCGCCCCACACACACACACCCCCGCCCCGCCCCAGG GTGGGAACCACACACCCCCGCCCTGCCCCAGGGTGGGAGCCACACACACA CCCCCCACCCCCCGCCCCAGGGTGGGAGCCACACACACAC	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	399	0.0025	239	c.557 others(256): Show c.557-2643_557-2642insACACACCCCCGCCCCACACACACACACC CCCGCCCCGCCCCAGGGTGGGAGCCACACACCCCCGCCCTGCCCCAGGGT GGGAGCCACACACACCCCCGCCCCACACACACACACCCCCGCCCCGCCCC AGGGTGGGAACCACACACCCCCGCCCTGCCCCAGGGTGGGAGCCACACAC ACACCCCCCACCCCCCGCCCCAGGGTGGGAGCCACACACACACCCCCCGC CCCACACACAC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
MLPH_chr2_237482251_237560322	237545165	G G	GGGACAGT others(232): Show GGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGAGGACAGTGGTGAGTG GGGACAGTGGTGAGTGGGAGGACAGTGGTGAGTGGGAGGACAGTGGTGAG TGGGAGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGAGGGGACAGTGGT GAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGCACAGTGGTG AGTGGGGACAGTGGTGAGTGGGAGGACAGTGGTGAGTGGA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0003 a0006c0006t0003	a0006c0006t0003g0116 a0006c0006t0003g0116	1	286	0.0035	239	c.154 others(258): Show c.1540-1439_1540-1438insACAGTGGTGAGTGGGGACAGTGGTGA GTGGGAGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGAGGACAGTGGT GAGTGGGAGGACAGTGGTGAGTGGGAGGACAGTGGTGAGTGGGGACAGTG GTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGT GGTGAGTGGGGCACAGTGGTGAGTGGGGACAGTGGTGAGTGGGAGGACAG TGGTGAGTGGAGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MMD2_chr7_4900998_4964187	4960096	T T	TGGGGGGG others(232): Show TGGGGGGGAGTGGGAAGTGGGGGTGTTGGGGGGGGAGTGAGGGGGTTAGT GGGAAGAGAGGGACTTGGAGGTTGGGGGAGTGGGAAGTGGGGGTGTTGGA GGGAGTGGGGGACCTGGGGGTGGGGGGAGTGGGAAGTGGGGGTGTTGGGG GGGAGTGAGGGGGTTAGTGGGAAGAGAGGGACTTGGAGGTTGGGGGAGTG GGAAGTGGGGGTGTTGGAGGGAGTGGGGGACCTGGGGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0031 a0001c0002t0031	a0001c0002t0031g0161 a0001c0002t0031g0161	1	382	0.0026	239	c.-10 others(250): Show c.-1080_-1079insCACCCCCAGGTCCCCCACTCCCTCCAACACCCCC ACTTCCCACTCCCCCAACCTCCAAGTCCCTCTCTTCCCACTAACCCCCTC ACTCCCCCCCAACACCCCCACTTCCCACTCCCCCCACCCCCAGGTCCCCC ACTCCCTCCAACACCCCCACTTCCCACTCCCCCAACCTCCAAGTCCCTCT CTTCCCACTAACCCCCTCACTCCCCCCCCAACACCCCCACTTCCCACTCC CCCCC	MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding		910		chr7	TogoVar

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