Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SBNO2_chr19_1102638_1179268	1164894	G G	GAGGAGGA others(663): Show GAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGA GGAACAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAACAGGTGC TAGGACACTGTGGGGACGTCCCAGATGCCAGGGGCAGTGGAGACAGGAGG AGGAGGAGGAAGAGGAGGAGAAGGAGGAGGAGGAACAGGAGGAGGAGGAG GAACAGGAGGAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAGGAACAGGT GCTAAGACACTGTGGGGACGTCCCAGATGCCAGGGGCAGTGGAGACAGGA GGAGGAGGAGGAAGAGGAGGAGAAGGAGGAGGAGGAACAGGAGGAGGAGG AGGAGGAGGAACAGGAGGAGGAGGAGGAATAGGAGGAGGAGGAGGAGGAG GAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGA GGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGG AGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAGGAA CAGGAGGAGGAGGAGGAGGAACAGCAGGAGGAGGAGGCACAGGAGGAGGA GGAGGAGGCACAGGAGGAGGAGGAGGAAGCACAGGAGGAGGAGGAGGAAC AGGAGGAGGAGGAGGAGGCAC	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	149	0.0067	670	c.-12 others(689): Show c.-127+9277_-127+9278insGTGCCTCCTCCTCCTCCTCCTGTTCC TCCTCCTCCTCCTGTGCTTCCTCCTCCTCCTCCTGTGCCTCCTCCTCCTC CTCCTGTGCCTCCTCCTCCTGCTGTTCCTCCTCCTCCTCCTCCTGTTCCT CCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCC TCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTG TTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTCCTCCTCCTATTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCC TCCTCCTGTTCCTCCTCCTCCTTCTCCTCCTCTTCCTCCTCCTCCTCCTG TCTCCACTGCCCCTGGCATCTGGGACGTCCCCACAGTGTCTTAGCACCTG TTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTCCTGTTCCTCCTCCTCCTTCTCCTCCTCTTCCTCCTCCTCCTCC TGTCTCCACTGCCCCTGGCATCTGGGACGTCCCCACAGTGTCCTAGCACC TGTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTGTTCCTCCTC CTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCT	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SEPTIN9_chr17_77276499_77505593	77356681	C C	CCCCCTCC others(663): Show CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCC TCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCAC CCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCC TCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCC CTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTTC CCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCC ATCCCCTCCCCTCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCATCCCCT CCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCC CCACCCCTTCCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCC TCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCTTCCC CCTTTCCCTTCCCCTCCCCTG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	117	0.0085	670	c.77- others(687): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTT CCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCCT CCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCC CCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTC CCCATCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCC TCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCTCCCCTCCCCATCCCC TCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCC CCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCACCCCTT CCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCC CCTCCCCCTCCCTTCCCCCTTTCCCTTCCCCTCCCCTGCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77356681	C C	CCCCCTCC others(663): Show CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCTACCTCCTCCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCC TCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCAC CCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCC TCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCC CTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTTC CCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCC ATCCCCTCCCCTCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCATCCCCT CCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCC CCACCCCTTCCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCC TCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCTTCCC CCTTTCCCTTCCCCTCCCCTG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0127 a0001c0001t0003g0127	1	117	0.0085	670	c.77- others(687): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCTACCTCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTT CCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCCT CCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCC CCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTC CCCATCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCC TCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCTCCCCTCCCCATCCCC TCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCC CCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCACCCCTT CCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCC CCTCCCCCTCCCTTCCCCCTTTCCCTTCCCCTCCCCTGCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356681	C C	CCCCCTCC others(663): Show CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCC TCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCAC CCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCC TCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCC CTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTTC CCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCC ATCCCCTCCCCTCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCATCCCCT CCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCC CCACCCCTTCCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCC TCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCTTCCC CCTTTCCCTTCCCCTCCCCTG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02273.hp1 HG03654.hp2 HG01934.hp1 HG02273.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0039 a0001c0001t0001g0083 a0001c0001t0001g0027 a0001c0001t0001g0039 a0001c0001t0001g0083	3	123	0.0244	670	c.22+ others(687): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTT CCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCCT CCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCC CCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTC CCCATCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCC TCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCTCCCCTCCCCATCCCC TCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCC CCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCACCCCTT CCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCC CCTCCCCCTCCCTTCCCCCTTTCCCTTCCCCTCCCCTGCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356681	C C	CCCCCTCC others(663): Show CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCTACCTCCTCCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCC TCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCAC CCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCC TCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCC CTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTTC CCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCC ATCCCCTCCCCTCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCATCCCCT CCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCC CCACCCCTTCCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCC TCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCTTCCC CCTTTCCCTTCCCCTCCCCTG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0120 a0001c0001t0004g0120	1	121	0.0083	670	c.22+ others(687): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCTACCTCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTT CCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCCT CCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCC CCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTC CCCATCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCC TCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCTCCCCTCCCCATCCCC TCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCC CCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCACCCCTT CCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCC CCTCCCCCTCCCTTCCCCCTTTCCCTTCCCCTCCCCTGCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
TCF3_chr19_1604292_1657615	1627878	G G	GGGGATGA others(663): Show GGGGATGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAG GGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCA CGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAA GGGGACAGCAGAACTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCA CGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGA AGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCT CACGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGTGGGA AGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAACT CACGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGTGGGA AGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCT CACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGG GAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAAC TCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGG GAAGGGGACAGCAGAACTCAC	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18945.hp1 HG00609.hp2 NA18945.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0006 a0002c0001t0083 a0002c0001t0006 a0002c0001t0083	a0002c0001t0006g0068 a0002c0001t0083g0289 a0002c0001t0006g0068 a0002c0001t0083g0289	2	306	0.0065	670	c.299 others(685): Show c.299-453_299-452insGTGAGTTCTGCTGTCCCCTTCCCGCCTCAC CCCCGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGTTCTGCTG TCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCAC CCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCT GTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCACCTC ACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCT GTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCACCTC ACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCT GTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCC ACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTG CTGTCCCCTTCCCACCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCT CACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGTTCTG CTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCC TCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCATCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TGM2_chr20_38122385_38170270	38124008	A A	ATATATAT others(663): Show ATATATATAATATACCTATTATATATATAATATACCTATTATATATAATA TACCTATTATATATAAAATATACCTATTATATATAATATACCTATTATAT ACATTATATATAATATACCTATTATATGCATTATATATAATATACCTATT ATATGCATTATATATAATATACCTATTATATGCATTATATATAATATACC TATTATATGCATTATATATAATATACCTATTATATGCATTATATATAATA TACCTATTATATGCATTATATATAATATACCTATTATATGCATTATATAA TATATTATATATAATATGCATATTATATGTATTATATATTATATATTATA TATATAATATACATATTATATGTATTATATATAATATATTATATATATAA TATACATATTATATGTATTATATATTATATATAATATACATATTATATAT TATATATTATATACATATTATATATTATATATTATATACATATTATATAT TATATATTATATACATATTATATATTATATACATATTATATATTATATAT TATATACATATTATACATTATATATATCTAAAATATATAATACACATTAT ATATTATATAATACACATTATATATTATATATAATACACATTATATATTA TATATAATACACATTATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0004 a0001c0025t0004	a0001c0025t0004g0130 a0001c0025t0004g0130	1	322	0.0031	670	c.62 others(681): Show c.6210_*6211insATATATAATGTGTATTATATATAATATATAATGT GTATTATATATAATATATAATGTGTATTATATAATATATAATGTGTATTA TATATTTTAGATATATATAATGTATAATATGTATATAATATATAATATAT AATATGTATATAATATATAATATGTATATAATATATAATATATAATATGT ATATAATATATAATATATAATATGTATATAATATATAATATATAATATGT ATATTATATATAATATATAATACATATAATATGTATATTATATATATAAT ATATTATATATAATACATATAATATGTATATTATATATATAATATATAAT ATATAATACATATAATATGCATATTATATATAATATATTATATAATGCAT ATAATAGGTATATTATATATAATGCATATAATAGGTATATTATATATAAT GCATATAATAGGTATATTATATATAATGCATATAATAGGTATATTATATA TAATGCATATAATAGGTATATTATATATAATGCATATAATAGGTATATTA TATATAATGCATATAATAGGTATATTATATATAATGTATATAATAGGTAT ATTATATATAATAGGTATATTTTATATATAATAGGTATATTATATATAAT AGGTATATTATATATATAATAGGTATATTATATATA	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3376		chr20	TogoVar
TLL2_chr10_96359608_96518926	96415739	G G	GTCTCTCT others(663): Show GTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCT CTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTGTCT CTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCT CTCTCTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCT CTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCT CTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCT CTCTCTCTGTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCT CTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCT CTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCTCTCTGTCTCTTTCTCTCT CTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTGT CTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCT CTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGT CTCTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCT CTCTGTCTCTCTCTCTGTCTC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0069 a0001c0003t0001g0069	1	158	0.0063	670	c.924 others(687): Show c.924-2424_924-2423insGAGACAGAGAGAGAGACAGAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGA GAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGA GAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGA AAGAGACAGAGAGAGACAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGA GAGAAAGAGACAGAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGACA GAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGAGAGA GAGACAGAGACAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAGA GAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGAGA CAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGA GAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGACAGA GAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGA GAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TMEM120B_chr12_121707752_121787068	121747351	G G	GCTGGGGT others(663): Show GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTG GGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGTCTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTG GGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGTGGGAGGCA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03195.hp2 HG02486.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0076 a0001c0001t0028g0077 a0001c0001t0028g0076 a0001c0001t0028g0077	2	300	0.0067	670	c.189 others(685): Show c.189-962_189-961insTGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGTCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMPRSS9_chr19_2355265_2431261	2377639	C C	CTCTCCCC others(663): Show CTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCT CCCCTCTCCCCTCCCCTCTCCCCTCCCCCTTCCCCCTCTCCTACCCCTCC CCCTTACCCTTCCCCTTCCCCCCCTCTGCCCTCCCCTATCCCCTCCTCTG CCCTCCCCTCTCCCCCTCCCCTCCCCCCTCCCCTATCCCCTCTCCCCTCT CCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC TCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTC TCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTC CTCCCCTCCCCCCTCCCCTCCCTCCCCTTCCCCTCCCCCCTCCCTTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCTCCCGTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCTC CCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCCTCCCCTCCCCCCCTCCCCCTCCCCCCTCTCCTCTCCCCTCCCCTCT CCTCTCCCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCC CTCCCCTCTCCTCCCTTTCCT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0101 a0002c0002t0001g0101	1	10	0.1000	670	c.-25 others(689): Show c.-25-12098_-25-12097insTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTCCCCTCCCCCTTCCCCCTCTCCTACCCCTCCC CCTTACCCTTCCCCTTCCCCCCCTCTGCCCTCCCCTATCCCCTCCTCTGC CCTCCCCTCTCCCCCTCCCCTCCCCCCTCCCCTATCCCCTCTCCCCTCTC CCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCT CCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCT CCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCC TCCCCTCCCCCCTCCCCTCCCTCCCCTTCCCCTCCCCCCTCCCTTCCCCT CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCGTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCTCC CCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCC CCCTCCCCTCCCCCCCTCCCCCTCCCCCCTCTCCTCTCCCCTCCCCTCTC CTCTCCCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCC TCCCCTCTCCTCCCTTTCCTTCTCCCCTCCCCTCTCCCCTCCCC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TNFSF13B_chr13_108264718_108313478	108278578	C C	CTCCTCCT others(663): Show CTCCTCCTCCTCTTCCTCCTCCTCTGCTCCTGTCCTCCTCTTCTTCCTCC TCCCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTGCTCT GCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCTCCTTTCCTCC TCCTCCCCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCCTCCTCCTTCT CCTCTCCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCTTCCTCCTCCT CCTGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCTCTTC CTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCCTCCTCCTCCGCTTC TCTTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCCTCCTCCTCCC CTTCTCTTCCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCCCCTCC TCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCC TCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTCCACTTCTCTTTCTCC TCCTCCCCTCCTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCCCCTCCT CTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTCCTCCTCTCCTCCTCCTC TTCCTCCTCCTCCCCTTCTCT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	8	0.1250	670	c.424 others(687): Show c.424+8165_424+8166insTTCCTCCTCCTCTGCTCCTGTCCTCCTC TTCTTCCTCCTCCCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCT CCTCTGCTCTGCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCT CCTTTCCTCCTCCTCCCCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCC TCCTCCTTCTCCTCTCCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCT TCCTCCTCCTCCTGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCC CCTTCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCCTCCT CCTCCGCTTCTCTTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCC TCCTCCTCCCCTTCTCTTCCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCT CCTCCCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTC CCCTTCCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTCCACTT CTCTTTCTCCTCCTCCCCTCCTCTCCTCCTCCTCCCCTCCTCTCCTCCTC CTCCCCTCCTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTCCTCCTCT CCTCCTCCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTC	TNFSF13B	ENSG00000102524.12	transcript	ENST00000375887.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
TP53AIP1_chr11_128930370_128947871	128930893	T T	TGGGGTTA others(663): Show TGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGG GTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGGTTAGGGAGGCCAGGGGTT AGGGAGGCCAGGGTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAG GCCAGGGGGTTAGGGAGACCAAGGGTTAGGGAGGCTGGGGTTAGGGAGGC CGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTTAAGGAGGCCGGG GTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGTAGG GAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGC TGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGG TTAGGGAGGCCAGGGTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGG AGGCCAGGGGGTTAGGGAGACCAAGGGTTAGGGAGGCTGGGGTTAGGGAG GCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTTAAGGAGGCCG GGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTT AGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGG AGGCCGGGGTTAGGGAGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	76	0.0132	670	c.46 others(681): Show c.4697_*4698insTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGC CTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCC CTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCTTAAC CCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCA GCCTCCCTAACCCTTGGTCTCCCTAACCCCCTGGCCTCCCTAACCCCAGC CTCCCTAACCCCGGCCTCCCTACCCTGGCCTCCCTAACCCCAGCCTCCCT AACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCC CGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTACCCTGGCCT CCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCTTA ACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCC CAGCCTCCCTAACCCTTGGTCTCCCTAACCCCCTGGCCTCCCTAACCCCA GCCTCCCTAACCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCTGGCCTC CCTAACCCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCTGGCCTCCCT AACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4476		chr11	TogoVar
TPO_chr2_1408463_1548673	1524604	C C	CCCTCACA others(663): Show CCCTCACACTGGGTGCAACCTCCTCAAATCCCCTACTCTGTGGAACCTCC TCAAATCCCCCCCACTGTGTGCAGCCTCCTCAAATCCCCTCACTATGTGC AACTCCACCAAATCTCCCCCACTGTGAGCAAAACCACAAATCCCCCCAAT GTGTGCAACTTCCTCAAATCCCCCCACTGTGTGCAACCTCCCCAAAACCC CCCACTGTTTGCAACACCCCCAAATCTCCCCCACTGTGAGCAAACCCCCA AAACCCCCACTGGGTACAACCTCCTCAAATCCCCCCACTGTGTGTAACCT CCCAAAATCCCCCCACTGTGTGCAAACCCCCCAAATCTCCCTATGACCAA AACCACAAATCCCCCCACTGTGTGCAACCTCCTCAAATCCCCCCAATGTG TGCAACCCCCAAAATCCCCCCCACTGTGGGCAACCCCCCCAAATCCCCCA CTGTGTGCAACCCCCCAAAACTCCCCCACTGTGAGCAAAACCACAAATCT CCCCAGTGTGTGCAGCCTCCTCAAATCCCCCCACTGTGCGCATCCCTCCA ATCCCCTCCACTCTGTGCAACCTCCCCAAATTCCCCCAACTGTGTGCAAC CTCCTCAAATCCCTCCCACTCTGTGCAAACTCCCCAAATCCACCCCACAC TGTGCAACCTCCTCAAATCCT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01167.hp2 others(14): Show HG01069.hp2 HG01071.hp2 HG01167.hp2 HG01928.hp1 HG01928.hp2 HG01975.hp2 HG01978.hp1 HG02004.hp2 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02602.hp2 NA18962.hp2 NA19043.hp1 NA19043.hp2 NA19088.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0008	a0001c0001 a0002c0002 a0002c0015 others(4): Show a0001c0001 a0002c0002 a0002c0015 a0006c0026 a0008c0011 a0008c0016 a0008c0028	a0001c0001t0003 a0002c0002t0003 a0002c0002t0006 others(5): Show a0001c0001t0003 a0002c0002t0003 a0002c0002t0006 a0002c0015t0003 a0006c0026t0003 a0008c0011t0006 a0008c0016t0003 a0008c0028t0003	a0001c0001t0003g0081 a0001c0001t0003g0128 a0002c0002t0003g0056 others(14): Show a0001c0001t0003g0081 a0001c0001t0003g0128 a0002c0002t0003g0056 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0003g0059 a0002c0002t0003g0060 a0002c0002t0003g0063 a0002c0002t0003g0078 a0002c0002t0003g0095 a0002c0002t0006g0026 a0002c0015t0003g0110 a0006c0026t0003g0052 a0008c0011t0006g0048 a0008c0011t0006g0092 a0008c0016t0003g0020 a0008c0028t0003g0003	17	128	0.1328	670	c.261 others(689): Show c.2618+7623_2618+7624insCTCACACTGGGTGCAACCTCCTCAAA TCCCCTACTCTGTGGAACCTCCTCAAATCCCCCCCACTGTGTGCAGCCTC CTCAAATCCCCTCACTATGTGCAACTCCACCAAATCTCCCCCACTGTGAG CAAAACCACAAATCCCCCCAATGTGTGCAACTTCCTCAAATCCCCCCACT GTGTGCAACCTCCCCAAAACCCCCCACTGTTTGCAACACCCCCAAATCTC CCCCACTGTGAGCAAACCCCCAAAACCCCCACTGGGTACAACCTCCTCAA ATCCCCCCACTGTGTGTAACCTCCCAAAATCCCCCCACTGTGTGCAAACC CCCCAAATCTCCCTATGACCAAAACCACAAATCCCCCCACTGTGTGCAAC CTCCTCAAATCCCCCCAATGTGTGCAACCCCCAAAATCCCCCCCACTGTG GGCAACCCCCCCAAATCCCCCACTGTGTGCAACCCCCCAAAACTCCCCCA CTGTGAGCAAAACCACAAATCTCCCCAGTGTGTGCAGCCTCCTCAAATCC CCCCACTGTGCGCATCCCTCCAATCCCCTCCACTCTGTGCAACCTCCCCA AATTCCCCCAACTGTGTGCAACCTCCTCAAATCCCTCCCACTCTGTGCAA ACTCCCCAAATCCACCCCACACTGTGCAACCTCCTCAAATCCTC	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TUBA8_chr22_18105809_18136732	18106374	C C	CGTGGTTC others(663): Show CGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACG TGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACGTG GTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACGTGGT TCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACGTGGTTC CAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACGTGGTTCCA GTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACGTGGTTCCAGT CTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACGTGGTTCCAGTCT GAGTCTGAAGCCTGAGACCCAGGAGAGCTGAAGATGTGGTTTCAGTCTGT CTGAAGCCTGAGACCCAGGAGAGCTGAAGACGTGGTTCCAGTCTGAGTCT GAAGCCTGAGATCCAGGAGAGCTAAGGACATGGTTCCAGTCTGAGTCTGA AGCCGGAGACCCAGGAGAGCTGATGGTGTGGTTCCAGTCTGAGTCTGAAG CCTGAGACCCAGGAGAGCTGAATACGTAGTTCCAGTCGGAGTCTGAAGCC TGAGATCCAGGAGAGCTGAGGACATGGTTCCAGTCTGAATCTGAAGCCCG AGACCCAGGAGAGCTGATGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02055.hp2 HG01243.hp1 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0238 a0001c0001t0001g0193 a0001c0001t0001g0238	2	279	0.0072	670	c.-44 others(681): Show c.-4492_-4491insGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCA CGAGAGCTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACG AGAGCTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAG AGCTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAG CTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCT GAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGA AGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAG ACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCAGGAGAGCTGAAGAT GTGGTTTCAGTCTGTCTGAAGCCTGAGACCCAGGAGAGCTGAAGACGTGG TTCCAGTCTGAGTCTGAAGCCTGAGATCCAGGAGAGCTAAGGACATGGTT CCAGTCTGAGTCTGAAGCCGGAGACCCAGGAGAGCTGATGGTGTGGTTCC AGTCTGAGTCTGAAGCCTGAGACCCAGGAGAGCTGAATACGTAGTTCCAG TCGGAGTCTGAAGCCTGAGATCCAGGAGAGCTGAGGACATGGTTCCAGTC TGAATCTGAAGCCCGAGACCCAGGAGAGCTGATGGT	TUBA8	ENSG00000183785.16	transcript	ENST00000330423.8	protein_coding		4434		chr22	TogoVar
UBE2E3_chr2_180975605_181068425	181021630	T T	TCCTCCCT others(663): Show TCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCT TCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTCC CTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTTCCTTCCTCCCTCCCT CCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTTC CTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCT CCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTTCCTTCCTCC CTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTTCCTTCCTCCCT CCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTC CTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCT CCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTC CTCCCTCCCTTTTTTCCTTCC	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	336	0.0030	670	c.246 others(689): Show c.246-36063_246-36062insCCTCCCTCCCTCCCTCCCTCCCTTCC TTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTC CCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCC TCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTC CCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC TTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTT CCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCC TCCCTCCCTCCCTTCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTC CCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCC TCCCTTCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTT CCTTCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCC TTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTT CCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCC TTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTTTTTCCTTCC	UBE2E3	ENSG00000170035.16	transcript	ENST00000410062.9	protein_coding	3/5			chr2	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(663): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTC TCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCC CCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTGT CCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCCTCTCC CCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCC CCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCC TCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCC TCCCCTTTCCCCCCTCCCTTCCCCCTCCCTCTCCCCTCTCCCCCCTCCCC CTCCCCCCTCCCCCTCTCTCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCT CCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCT TTCCCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0021 a0021	a0021c0025 a0021c0025	a0021c0025t0004 a0021c0025t0004	a0021c0025t0004g0209 a0021c0025t0004g0209	1	33	0.0303	670	c.53- others(683): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCTCCTCCCCCTCCCCTCTCCTCCTCT CCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCCCTC CTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCC CCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTC CTCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCC CTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCC TCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCC TCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTCCCTCTCCCCTCTCCCCC CTCCCCCTCCCCCCTCCCCCTCTCTCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCC TCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCC TCCCCTTTCCCCCCTCCCTTCCCCCTCCCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
ZBTB34_chr9_126855639_126890878	126876197	T T	TCCCCCTT others(663): Show TCCCCCTTCCCCCCTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCC CTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTT CCCCCTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCC TTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCC CCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCT TCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCC CCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTT CCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCC CTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTT CCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCC CCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCT TCCCCCGTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCC CCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTTC CCCCCTTCCCCCCTTTCCCCC	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	100	0.0100	670	c.-10 others(687): Show c.-10-3193_-10-3192insCCCCCTTCCCCCCTCCCCCTTCCCCCCT TCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCC CCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCTTCCCCCCTT TCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCC CCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTC CCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCC TTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTC CCCCCTTCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCT TCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCC CCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCC TTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTC CCCCCTTCCCCCTTCCCCCCTTCCCCCGTTCCCCCTTCCCCCCTTCCCCC TTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCC CCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTTCCCCC	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1			chr9	TogoVar
ZFYVE28_chr4_2264597_2423645	2299660	G G	GGGAAAGG others(663): Show GGGAAAGGAAGGGAGGGGAGGGAGGGAGGGAGAAAAGGGAAGTGAGAGGA AGGAGGGAGGGAGGAAAGGGAAGGGAGAGGAGGGAGGGAGTGAGGGAAGG GAAGGGAGGGGAGGGAGGTAGGCAGGGAAGGGAGGGGAGGGAGGGAGGGG AGGGAGGGGAGGGAGGGAAGGGAAGGGAGGGGAGGGAAGGGGAGGGAGGG GAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAG GGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGG AGGGAAGGCAGGGAGGGGAGGGGAGGGAGGGAGGGGAGGGAGGGAGGGAA GGGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGCGAGGGAGGGAAGGCAGG GAGGGGAGGGGAGGGAGGGGAGGGAGGGAAGGGGAGGGAGGGGAGGGAAG GGGAGGGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGT GAGGGGAGGGAGGGAGGGAAGGCAGGGAGGGGAGGGAGGCAGGGAAGGGA GGGGAGGGAGGGAGGGAAGTGAAGGAAAGGGAAAGAGGGAGGGAGGGAAG GGAAGGGAAGGGAAGGGAGGGGAGGGTGGGGAGGGTGGGATGAAGGAAAT GGAAAGAAAGGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0014 a0002c0006t0014	a0002c0006t0014g0080 a0002c0006t0014g0080	1	72	0.0139	670	c.205 others(689): Show c.2051+4628_2051+4629insTTCTTTCTTTCCTTTCTTTCCATTTC CTTCATCCCACCCTCCCCACCCTCCCCTCCCTTCCCTTCCCTTCCCTTCC CTCCCTCCCTCTTTCCCTTTCCTTCACTTCCCTCCCTCCCTCCCCTCCCT TCCCTGCCTCCCTCCCCTCCCTGCCTTCCCTCCCTCCCTCCCCTCACTTC CCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCTCCCTCCCCTTCC CTCCCCTCCCTCCCCTTCCCTCCCTCCCCTCCCTCCCCTCCCCTCCCTGC CTTCCCTCCCTCGCTCCCCTCACTTCCCTCCCTCCCTCCCCTCCCTTCCC TCCCTCCCTCCCCTCCCTCCCTCCCCTCCCCTCCCTGCCTTCCCTCCCTC CCTCCCCTCACTTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCC CTCCCTCCCCTTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTC CCTCCCCTTCCCTCCCCTCCCTTCCCTTCCCTCCCTCCCCTCCCTCCCCT CCCTCCCTCCCCTCCCTTCCCTGCCTACCTCCCTCCCCTCCCTTCCCTTC CCTCACTCCCTCCCTCCTCTCCCTTCCCTTTCCTCCCTCCCTCCTTCCTC TCACTTCCCTTTTCTCCCTCCCTCCCTCCCCTCCCTTCCTTTCC	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	8/12			chr4	TogoVar
ZFYVE28_chr4_2264597_2423645	2299660	G G	GGGAAAGG others(663): Show GGGAAAGGAAGGGAGGGGAGGGAGGGAGGGAGAAAAGGGAAGTGAGAGGA AGGAGGGAGGGAGGAAAGGGAAGGGAGAGGAGGGAGGGAGTGAGGGAAGG GAAGGGAGGGGAGGGAGGTAGGCAGGGAAGGGAGGGGAGGGAGGGAGGGG AGGGAGGGGAGGGAGGGAAGGGAAGGGAGGGGAGGGAAGGGGAGGGAGGG GAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAG GGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGG AGGGAAGGCAGGGAGGGGAGGGGAGGGAGGGAGGGGAGGGAGGGAGGGAA GGGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGCGAGGGAGGGAAGGCAGG GAGGGGAGGGGAGGGAGGGGAGGGAGGGAAGGGGAGGGAGGGGAGGGAAG GGGAGGGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGT GAGGGGAGGGAGGGAGGGAAGGCAGGGAGGGGAGGGAGGGAGGGAAGGGA GGGGAGGGAGGGAGGGAAGTGAAGGAAAGGGAAAGAGGGAGGGAGGGAAG GGAAGGGAAGGGAAGGGAGGGGAGGGTGGGGAGGGTGGGATGAAGGAAAT GGAAAGAAAGGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02523.hp2 HG02559.hp1 others(7): Show HG01975.hp2 HG02523.hp2 HG02559.hp1 HG02622.hp1 HG02896.hp2 HG03041.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp1 NA18522.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0004 a0001c0005 others(3): Show a0001c0002 a0001c0004 a0001c0005 a0002c0009 a0002c0032 a0004c0014	a0001c0002t0010 a0001c0004t0002 a0001c0005t0002 others(3): Show a0001c0002t0010 a0001c0004t0002 a0001c0005t0002 a0002c0009t0002 a0002c0032t0002 a0004c0014t0002	a0001c0002t0010g0125 a0001c0004t0002g0031 a0001c0004t0002g0043 others(7): Show a0001c0002t0010g0125 a0001c0004t0002g0031 a0001c0004t0002g0043 a0001c0004t0002g0227 a0001c0004t0002g0254 a0001c0005t0002g0128 a0001c0005t0002g0137 a0002c0009t0002g0018 a0002c0032t0002g0273 a0004c0014t0002g0081	10	81	0.1235	670	c.205 others(689): Show c.2051+4628_2051+4629insTTCTTTCTTTCCTTTCTTTCCATTTC CTTCATCCCACCCTCCCCACCCTCCCCTCCCTTCCCTTCCCTTCCCTTCC CTCCCTCCCTCTTTCCCTTTCCTTCACTTCCCTCCCTCCCTCCCCTCCCT TCCCTCCCTCCCTCCCCTCCCTGCCTTCCCTCCCTCCCTCCCCTCACTTC CCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCTCCCTCCCCTTCC CTCCCCTCCCTCCCCTTCCCTCCCTCCCCTCCCTCCCCTCCCCTCCCTGC CTTCCCTCCCTCGCTCCCCTCACTTCCCTCCCTCCCTCCCCTCCCTTCCC TCCCTCCCTCCCCTCCCTCCCTCCCCTCCCCTCCCTGCCTTCCCTCCCTC CCTCCCCTCACTTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCC CTCCCTCCCCTTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTC CCTCCCCTTCCCTCCCCTCCCTTCCCTTCCCTCCCTCCCCTCCCTCCCCT CCCTCCCTCCCCTCCCTTCCCTGCCTACCTCCCTCCCCTCCCTTCCCTTC CCTCACTCCCTCCCTCCTCTCCCTTCCCTTTCCTCCCTCCCTCCTTCCTC TCACTTCCCTTTTCTCCCTCCCTCCCTCCCCTCCCTTCCTTTCC	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	8/12			chr4	TogoVar
ZFYVE28_chr4_2264597_2423645	2299660	G G	GGGAAAGG others(663): Show GGGAAAGGAAGGGAGGGGAGGGAGGGAGGGAGAAAAGGGAAGTGAGAGGA AGGAGGGAGGGAGGAAAGGGAAGGGAGAGGAGGGAGGGAGTGAGGGAAGG GAAGGGAGGGGAGGGAGGTAGGCAGGGAAGGGAGGGGAGGGAGGGAGGGG AGGGAGGGGAGGGAGGGAAGGGAAGGGAGGGGAGGGAAGGGGAGGGAGGG GAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAG GGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGG AGGGAAGGCAGGGAGGGGAGGGGAGGGAGGGAGGGGAGGGAGGGAGGGAA GTGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGCGAGGGAGGGAAGGCAGG GAGGGGAGGGGAGGGAGGGGAGGGAGGGAAGGGGAGGGAGGGGAGGGAAG GGGAGGGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGT GAGGGGAGGGAGGGAGGGAAGGCAGGGAGGGGAGGGAGGGAGGGAAGGGA GGGGAGGGAGGGAGGGAAGTGAAGGAAAGGGAAAGAGGGAGGGAGGGAAG GGAAGGGAAGGGAAGGGAGGGGAGGGTGGGGAGGGTGGGATGAAGGAAAT GGAAAGAAAGGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02258.hp2 HG03195.hp2 others(1): Show HG01255.hp2 HG02258.hp2 HG03195.hp2 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0006 a0001c0001 a0002c0003 a0002c0006	a0001c0001t0003 a0002c0003t0004 a0002c0003t0017 others(1): Show a0001c0001t0003 a0002c0003t0004 a0002c0003t0017 a0002c0006t0004	a0001c0001t0003g0047 a0002c0003t0004g0006 a0002c0003t0017g0284 others(1): Show a0001c0001t0003g0047 a0002c0003t0004g0006 a0002c0003t0017g0284 a0002c0006t0004g0267	4	75	0.0533	670	c.205 others(689): Show c.2051+4628_2051+4629insTTCTTTCTTTCCTTTCTTTCCATTTC CTTCATCCCACCCTCCCCACCCTCCCCTCCCTTCCCTTCCCTTCCCTTCC CTCCCTCCCTCTTTCCCTTTCCTTCACTTCCCTCCCTCCCTCCCCTCCCT TCCCTCCCTCCCTCCCCTCCCTGCCTTCCCTCCCTCCCTCCCCTCACTTC CCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCTCCCTCCCCTTCC CTCCCCTCCCTCCCCTTCCCTCCCTCCCCTCCCTCCCCTCCCCTCCCTGC CTTCCCTCCCTCGCTCCCCTCACTTCCCTCCCTCCCTCCCCTCACTTCCC TCCCTCCCTCCCCTCCCTCCCTCCCCTCCCCTCCCTGCCTTCCCTCCCTC CCTCCCCTCACTTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCC CTCCCTCCCCTTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTC CCTCCCCTTCCCTCCCCTCCCTTCCCTTCCCTCCCTCCCCTCCCTCCCCT CCCTCCCTCCCCTCCCTTCCCTGCCTACCTCCCTCCCCTCCCTTCCCTTC CCTCACTCCCTCCCTCCTCTCCCTTCCCTTTCCTCCCTCCCTCCTTCCTC TCACTTCCCTTTTCTCCCTCCCTCCCTCCCCTCCCTTCCTTTCC	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	8/12			chr4	TogoVar
ZFYVE28_chr4_2264597_2423645	2299660	G G	GGGAAAGG others(663): Show GGGAAAGGAAGGGAGGGGAGGGAGGGAGGGAGAAAAGGGAAGTGAGAGGA AGGAGGGAGGGAGGAAAGGGAAGGGAGAGGAGGGAGGGAGTGAGGGAAGG GAAGGGAGGGGAGGGAGGTAGGCAGGGAAGGGAGGGGAGGGAGGGAGGGG AGGGAGGGGAGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGG GAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAG GGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGG AGGGAAGGCAGGGAGGGGAGGGGAGGGAGGGAGGGGAGGGAGGGAGGGAA GTGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGCGAGGGAGGGAAGGCAGG GAGGGGAGGGGAGGGAGGGGAGGGAGGGAAGGGGAGGGAGGGGAGGGAAG GGGAGGGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGT GAGGGGAGGGAGGGAGGGAAGGCAGGGAGGGGAGGGAGGGAGGGAAGGGA GGGGAGGGAGGGAGGGAAGTGAAGGAAAGGGAAAGAGGGAGGGAGGGAAG GGAAGGGAAGGGAAGGGAGGGGAGGGTGGGGAGGGTGGGATGAAGGAAAT GGAAAGAAAGGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02572.hp1 HG02486.hp1 HG02572.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0009 a0001c0004 a0002c0009	a0001c0004t0002 a0002c0009t0002 a0001c0004t0002 a0002c0009t0002	a0001c0004t0002g0119 a0002c0009t0002g0011 a0001c0004t0002g0119 a0002c0009t0002g0011	2	73	0.0274	670	c.205 others(689): Show c.2051+4628_2051+4629insTTCTTTCTTTCCTTTCTTTCCATTTC CTTCATCCCACCCTCCCCACCCTCCCCTCCCTTCCCTTCCCTTCCCTTCC CTCCCTCCCTCTTTCCCTTTCCTTCACTTCCCTCCCTCCCTCCCCTCCCT TCCCTCCCTCCCTCCCCTCCCTGCCTTCCCTCCCTCCCTCCCCTCACTTC CCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCTCCCTCCCCTTCC CTCCCCTCCCTCCCCTTCCCTCCCTCCCCTCCCTCCCCTCCCCTCCCTGC CTTCCCTCCCTCGCTCCCCTCACTTCCCTCCCTCCCTCCCCTCACTTCCC TCCCTCCCTCCCCTCCCTCCCTCCCCTCCCCTCCCTGCCTTCCCTCCCTC CCTCCCCTCACTTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCC CTCCCTCCCCTTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTC CCTCCCCTTCCCTCCCCTCCCTCCCCTTCCCTCCCTCCCCTCCCTCCCCT CCCTCCCTCCCCTCCCTTCCCTGCCTACCTCCCTCCCCTCCCTTCCCTTC CCTCACTCCCTCCCTCCTCTCCCTTCCCTTTCCTCCCTCCCTCCTTCCTC TCACTTCCCTTTTCTCCCTCCCTCCCTCCCCTCCCTTCCTTTCC	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	8/12			chr4	TogoVar
ADGRA1_chr10_133082924_133136675	133111178	A A	AACCACCC others(664): Show AACCACCCCTCCTAATCCCACCAGACAACCTGCCCGCCATGAGCACCTCC CTCCTAATCCCACCAGACAACCTGCCCACCACAGGCACCTCCCTCCTAAT CCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAG ACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTG CCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCAC GGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCT CCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTA ATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCC AGACAACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACC TGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACC ACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCAC CTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCC TAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCA CCAGACCACCTGCCCACCACAG	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0229 a0001c0001t0002g0229	1	300	0.0033	671	c.401 others(688): Show c.401+8336_401+8337insACCACCCCTCCTAATCCCACCAGACAAC CTGCCCGCCATGAGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCAC CACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCA CCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTC CTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCC ACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACC ACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCC ACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGG CACCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCACAGGCACCTCCC TCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATC CCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGA CCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGC CCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACA GGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAG	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6			chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111685	C C	CCTCCCTC others(664): Show CCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTC CTAATCCCACCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCC ACCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACC ACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACAACCTGCCC ACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGG CACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGACACCTCCC TCCTAATCCCACCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATC CCACCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGA CAACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACCACCTGC CCACCACAGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACG GGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGACACCTC CCTCCTAATCCCACCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAA TCCCACCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCA GACAACCTGCCCACCACAGACA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0041 a0001c0003t0041	a0001c0003t0041g0023 a0001c0003t0041g0023	1	311	0.0032	671	c.401 others(688): Show c.401+8844_401+8845insTCCCTCCTAATCCCACCAGACCACCTGC CCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACA GACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGGCACCTC CCTCCTAATCCCACCAGACCACCTGCCCACCACAGACACCTCCCTCCTAA TCCCTCCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCA GACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCT GCCCACCACAGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCA CGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGACACC TCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGACACCTCCCTCCT AATCCCACCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCAC CAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCAC CTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCAC CACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGACA CCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGACAC	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
AGMO_chr7_15195317_15567015	15529638	A A	ATATAGTA others(664): Show ATATAGTATATATATTCTATATACAGAATATATATAGTATATATATTCTA TATACAGAATATATATAGTATATATATTCTATATACAGAATATATATAGT ATATATATTCTATATACAGAATATATATACTATATATATTCTATATACAG AATATATATAGTATATATATTCTATATACAGAATATATATAGTATATATA TTCTGTATACAGAATATATAGTATATATATTCTATATACAGAATATATAT AGTATATATATTCTGTATATAGAATATATATACTATATATATTCTATATA CAGAATATATATACTATATATATTCTATATATAGAATATATATATAGTAT ATATATTCTGTATATAGAATATATATAGTATATATATTCTGTATATATAC AGAATATATATAGTATATATATTCTATATACAGAATATATATAGTATATA TATTCTGTATACAGAATATATAGTATATATATTCTATATACAGAATATAT ATAGTATATATATTCTGTATACAGAATATATATACTATATATATTCTATA TACAGAATATATATACTATATATATTCTATATATAGAATATATATATAGT ATATATATTCTGTATATAGAATATATATAGTATATATATTCTGTATATAG AATATATATACTATATTAATTC	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	57	0.0175	671	c.409 others(690): Show c.409+15133_409+15134insGAATTAATATAGTATATATATTCTAT ATACAGAATATATATACTATATATATTCTATATACAGAATATATATACTA TATATATATTCTATATATAGAATATATATAGTATATATATTCTGTATATA GAATATATATAGTATATATATTCTGTATACAGAATATATATACTATATAT ATTCTGTATATAGAATATATATACTATATATTCTGTATACAGAATATATA TACTATATATATTCTGTATATAGAATATATATACTATATATATTCTGTAT ATATACAGAATATATATACTATATATATTCTATATACAGAATATATATAC TATATATATATTCTATATATAGAATATATATAGTATATATATTCTGTATA TAGAATATATATAGTATATATATTCTATATACAGAATATATATACTATAT ATATTCTGTATATAGAATATATATACTATATATTCTGTATACAGAATATA TATACTATATATATTCTGTATATAGAATATATATACTATATATATTCTGT ATATAGAATATATATAGTATATATATTCTGTATATAGAATATATATACTA TATATATTCTGTATATAGAATATATATACTATATATATTCTGTATATAGA ATATATATACTATATATATTCTGTATATAGAATATATATACTATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AMER2_chr13_25156679_25177288	25159099	T T	TATATATA others(664): Show TATATATATAATATATATTACATGTATATATTATATATTATATGTTTATA TATTATATGTATATATGTATATATTATATATTATATATTATATATATTAT ATACATATAATATATATTCTCATATATATTATATATACTCATATATATAA TATATATTCTCATATATATATATTATATATTCTCATATATATAATATATA TATTCTCATATATAATATATATTCTCATATATATAATATATACTCATATA TTATATATATTCTCATATATTATATATATACTCATATATAATGTATATAT TCTAATATATAATATATATTTTCTCATTTATATAATATATATTCTCATAT ATAATATATATTCTCATATATGACATATTATATATATTCTCATATATATT ATATATTCTCATATATAATATATATTCTCATATAATATATTATATATTCT CATATAATATATTATATATGCTCATATATAATATATTATATATGCTCATA TATAATATATTATATATGCTCATATATAATATATTATATATGCTCATATA TAATATATTATATATGCTCATATATAATATATTATATATGCTCATATATA ATATATTATATATGCTCATATATAATATATTATATATGCTCATATATAAT ATATTATATATGCTCATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0005 a0001c0015t0005	a0001c0015t0005g0000 a0001c0015t0005g0000	1	10	0.1000	671	c.10 others(684): Show c.10504_*10505insTATATATGAGCATATATAATATATTATATATG AGCATATATAATATATTATATATGAGCATATATAATATATTATATATGAG CATATATAATATATTATATATGAGCATATATAATATATTATATATGAGCA TATATAATATATTATATATGAGCATATATAATATATTATATATGAGCATA TATAATATATTATATATGAGCATATATAATATATTATATGAGAATATATA ATATATTATATGAGAATATATATTATATATGAGAATATATAATATATATG AGAATATATATAATATGTCATATATGAGAATATATATTATATATGAGAAT ATATATTATATAAATGAGAAAATATATATTATATATTAGAATATATACAT TATATATGAGTATATATATAATATATGAGAATATATATAATATATGAGTA TATATTATATATATGAGAATATATATTATATATGAGAATATATATATTAT ATATATGAGAATATATAATATATATATATGAGAATATATATTATATATAT GAGTATATATAATATATATGAGAATATATATTATATGTATATAATATATA TAATATATAATATATAATATATACATATATACATATAATATATAAACATA TAATATATAATATATACATGTAATATATATTATATATAT	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2579		chr13	TogoVar
AMER2_chr13_25156679_25177288	25159099	T T	TATATATA others(664): Show TATATATATAATATATATTACATGTATATATTATATATTATATGTTTATA TATTATATGTATATATGTATATATTATATATTATATATTATATATATTAT ATACATATAATATATATTCTCATATATATTATATATACTCATATATATAA TATATATTCTCATATATATATATTATATATTCTCATATATATAATATATA TATTCTCATATATAATATATATTCTCATATATATAATATATACTCATATA TTATATATATTCTCATATATTATATATATACTCATATATAATGTATATAT TCTAATATATAATATATATTTTCTCATTTATATAATATATATTCTCATAT ATAATATATATTCTCATATATGACATATTATATATATTCTCATATATATT ATATATTCTCATATATAATATATATTCTCATATAATATATTATATATTCT CATATAATATATTATATATTCTCATATATAATATATTATATATGCTCATA TATAATATATTATATATGCTCATATATAATATATTATATATGCTCATATA TAATATATTATATATGCTCATATATAATATATTATATATGCTCATATATA ATATATTATATATGCTCATATATAATATATTATATATGCTCATATATAAT ATATTATATATGCTCATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG03704.hp1 HG03831.hp1 others(10): Show HG00408.hp2 HG03704.hp1 HG03831.hp1 HG04115.hp1 HG04115.hp2 NA18940.hp2 NA18942.hp2 NA18978.hp2 NA19007.hp1 NA19010.hp2 NA19060.hp1 NA19063.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0032 a0001c0001t0093 a0001c0001t0005 a0001c0001t0032 a0001c0001t0093	a0001c0001t0005g0000 a0001c0001t0032g0000 a0001c0001t0093g0000 a0001c0001t0005g0000 a0001c0001t0032g0000 a0001c0001t0093g0000	13	22	0.5909	671	c.10 others(684): Show c.10504_*10505insTATATATGAGCATATATAATATATTATATATG AGCATATATAATATATTATATATGAGCATATATAATATATTATATATGAG CATATATAATATATTATATATGAGCATATATAATATATTATATATGAGCA TATATAATATATTATATATGAGCATATATAATATATTATATATGAGCATA TATAATATATTATATATGAGAATATATAATATATTATATGAGAATATATA ATATATTATATGAGAATATATATTATATATGAGAATATATAATATATATG AGAATATATATAATATGTCATATATGAGAATATATATTATATATGAGAAT ATATATTATATAAATGAGAAAATATATATTATATATTAGAATATATACAT TATATATGAGTATATATATAATATATGAGAATATATATAATATATGAGTA TATATTATATATATGAGAATATATATTATATATGAGAATATATATATTAT ATATATGAGAATATATAATATATATATATGAGAATATATATTATATATAT GAGTATATATAATATATATGAGAATATATATTATATGTATATAATATATA TAATATATAATATATAATATATACATATATACATATAATATATAAACATA TAATATATAATATATACATGTAATATATATTATATATAT	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2579		chr13	TogoVar
AMER2_chr13_25156679_25177288	25159099	T T	TATATATA others(664): Show TATATATATAATATATATTACATGTATATATTATATATTATATGTTTATA TATTATATGTATATATGTATATATTATATATTATATATTATATATATTAT ATACATATAATATATATTCTCATATATATTATATATACTCATATATATAA TATATATTCTCATATATATATATTATATATTCTCATATATATAATATATA TATTCTCATATATAATATATATTCTCATATATATAATATATACTCATATA TTATATATATTCTCATATATTATATATATACTCATATATAATGTATATAT TCTAATATATAATATATATTTTCTCATTTATATAATATATATTCTCATAT ATAATATATATTCTCATATATGACATATTATATATATTCTCATATATATT ATATATTCTCATATATAATATATATTCTCATATAATATATTATATATTCT CATATAATATATTATATATTCTCATATATAATATATTATATATGCTCATA TATAATATATTATATATGCTCATATATAATATATTATATATGCTCATATA TAATATATTATATATTCTCATATATAATATATTATATATGCTCATATATA ATATATTATATATGCTCATATATAATATATTATATATGCTCATATATAAT ATATTATATATGCTCATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0000 a0001c0001t0005g0000	1	10	0.1000	671	c.10 others(684): Show c.10504_*10505insTATATATGAGCATATATAATATATTATATATG AGCATATATAATATATTATATATGAGCATATATAATATATTATATATGAG CATATATAATATATTATATATGAGAATATATAATATATTATATATGAGCA TATATAATATATTATATATGAGCATATATAATATATTATATATGAGCATA TATAATATATTATATATGAGAATATATAATATATTATATGAGAATATATA ATATATTATATGAGAATATATATTATATATGAGAATATATAATATATATG AGAATATATATAATATGTCATATATGAGAATATATATTATATATGAGAAT ATATATTATATAAATGAGAAAATATATATTATATATTAGAATATATACAT TATATATGAGTATATATATAATATATGAGAATATATATAATATATGAGTA TATATTATATATATGAGAATATATATTATATATGAGAATATATATATTAT ATATATGAGAATATATAATATATATATATGAGAATATATATTATATATAT GAGTATATATAATATATATGAGAATATATATTATATGTATATAATATATA TAATATATAATATATAATATATACATATATACATATAATATATAAACATA TAATATATAATATATACATGTAATATATATTATATATAT	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2579		chr13	TogoVar
ARHGAP39_chr8_144524179_144690846	144687391	G G	GGTGAGCA others(664): Show GGTGAGCACTTCCCACCCCCGTGACCACACACTAGCGGTGAGCACTTCCC ACCCCGTGACCACACACTAGCAGTGAGCACTTCCCACCCCGTGACCACAC ACTGGCGGCGAGCACTTCCCACCCCGTGACCACTCATTTACAGCGAGCAC TTCCCACCCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCGTGA CCACGCACTGGCGGCGAGCACTTCCCACCCCGTGACCACGCACTGGCGGT GAGCACTTCCCACCCCGTGACCACTCATTTACAGCGAGCACTTCCCACCC CCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCGTGACCACGCACT GGCGGTGAGCACTTCCCACCCCGTGACCACTCATTTACAGCGAGCACTTC CCACCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCGTGACCAC GCACTGGCGGTGAGCACTTCCCACCCCGTGACCACTCATTTACAGCGAGC ACTTCCCACCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCGTG ACCACACACTGGCGGTGAGCACTTCCCACCCCCGTGACCACACACTGGCG GTGAGCACTTCCCACCCCCGTGACCACACACTAGCAGTGAGCACTTCCCA CCCCCGTGACCACACACTAGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	229	0.0044	671	c.-17 others(682): Show c.-1788_-1787insTGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTC ACTGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTG GTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGA AGTGCTCGCCGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCGCTGTAAA TGAGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGCGTGGTCACGGGG TGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCGCT GTAAATGAGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGCGTGGTCA CGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGTGGGAAGTG CTCGCTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGCG TGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGTGGG AAGTGCTCGCCGCCAGTGCGTGGTCACGGGGGTGGGAAGTGCTCGCTGTA AATGAGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGG GGTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCA CCGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1546		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687440	A A	ACCCCTGT others(664): Show ACCCCTGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCGTGACCACG CACTGGCGGCGAGCACTTCCCACCCCCGTGACCACACACTGGCGGCGAGC ACTTCCCACCCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCGT GACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCG GTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCAC CCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACAC TAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTT CCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCA CACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAG CACTTCCCACCCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCG TGACCACACACTAGCGGTGAGCACTTCCCACCCCCGTGACCACACACTAG CGGTGAGCACTTCCCACCCCGTGACCACTCATTTACAGCGAGCACTTCCC ACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACAC ACTAGCGGTGAGCACTTCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0011 a0001c0003t0001g0011	1	220	0.0045	671	c.-18 others(682): Show c.-1837_-1836insGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGG GGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCG CTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGT CACGGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAG TGCTCACCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCTAGT GTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGT GGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCG CTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCAC GGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCT CACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTG GTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAA GTGCTCGCCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCGCCGCCAG TGTGTGGTCACGGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGG GTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACAGGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1595		chr8	TogoVar
B4GALNT4_chr11_364499_387117	375197	A A	AGGAGGAA others(664): Show AGGAGGAAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAG GAAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAG GAGGAAGGAGGGAGGAGGAAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGAAGGGAGGG AGGAGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGAGGAGGAG GAAGGGAGGTGTGGGAGGAAGGGAGGGAGGGGAGGAGGAAGGGAGGGTGG AGGAAGGGGAGGGAGGAGGTAGGGAGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGTGGAGGGAGGGAGGAGGAAGGGAGGGGAGGTGGAAGGGAG GGAGGAGGAAGGGAGGGGAAGGGTGAGGGAGGAGGAAGGGAGGGAGGGAG GAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGAGGAG GAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAGGGA GGGAGGAGGGGGAGGAGGGAGG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0085 a0002c0004t0002g0085	1	182	0.0055	671	c.784 others(686): Show c.784-261_784-260insGGAAGGGAGGGAGGGAGGAAGGGAGGGAGG GAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGA GGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGAAGGGAGGGA GGAGGAAGGGAGGGAGGAGGAAGGAGGGAGGAGGAAGGGAGGGAGGGAGG AAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA AGGGAGGAAGGGAGGGAGGAGGAGGGAGGGAGGAGGAAGGGAGGGAGGAG GAAGGGAGAGGAGGAGGAAGGGAGGTGTGGGAGGAAGGGAGGGAGGGGAG GAGGAAGGGAGGGTGGAGGAAGGGGAGGGAGGAGGTAGGGAGGAGGAGGA AGGGAGGGAGGAGGAAGGGAGGGAGGTGGAGGGAGGGAGGAGGAAGGGAG GGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGGAAGGGTGAGGGAGGAG GAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGG AAGGGAGGGAGAGGAGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGG GAGGGAGGAGGAGGGAGGGAGGAGGGGGAGGAGGGAGGGGA	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BSND_chr1_54993933_55022172	55003042	G G	GTGATGAT others(664): Show GTGATGATGATGGTGATTAGGAGATGCTGATGATGAGGATGGTGATGGTG AGAATGGTAATGGTGATGATAATAGTGATGATGATAATAGTGATAATGAT GGTGAGGATGGTGATGGTGACAATGGTGATGATGATGATGATGATAGTGA TGATGATGGTGATTAGGAGATGGTGATGATGAGGATGGTGATGGTGAGAA TGGTAATGGTGATAATAGTGATGATGATAATAGTGATAATGATGGTGAGG ATGGTGATGGTGACAATGGTGATGATGATGATGATGATAGTGATGATGAT GGTGATTAGGAGATGGTGATGATGAGGATGGTGATGGTGAGAATGGTAAT GGTGATGATAATAGTGATGATGATGGTGAGGATGGTGATGGTGAAGATGG TGATGATGAGATTGGTGATAGAATGGTGATGGTAATGACGATGTTGATGG TAATGAAGATGTCAATGATGGTGATGTGATGATAATGATGGTAACGGTTA TGATGATGGTGATGGTGATAATGATAATGGTGATGATGATGGTAATGGTC ACGATGGTGATAGTGATGATGATAGTGGTGATAATGATGGTGATGTTGAT AATTTTGGTGGTGATAATAGTTATGGTGATGATTGATGGTAATGAGGATG AGGATGATGACGATTATTATTA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01891.hp2 HG03453.hp2 others(1): Show HG01109.hp1 HG01891.hp2 HG03453.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0148 a0001c0001t0172 a0001c0001t0058 a0001c0001t0148 a0001c0001t0172	a0001c0001t0058g0042 a0001c0001t0148g0157 a0001c0001t0172g0042 a0001c0001t0058g0042 a0001c0001t0148g0157 a0001c0001t0172g0042	4	59	0.0678	671	c.178 others(688): Show c.178-1965_178-1964insTTAGGAGATGCTGATGATGAGGATGGTG ATGGTGAGAATGGTAATGGTGATGATAATAGTGATGATGATAATAGTGAT AATGATGGTGAGGATGGTGATGGTGACAATGGTGATGATGATGATGATGA TAGTGATGATGATGGTGATTAGGAGATGGTGATGATGAGGATGGTGATGG TGAGAATGGTAATGGTGATAATAGTGATGATGATAATAGTGATAATGATG GTGAGGATGGTGATGGTGACAATGGTGATGATGATGATGATGATAGTGAT GATGATGGTGATTAGGAGATGGTGATGATGAGGATGGTGATGGTGAGAAT GGTAATGGTGATGATAATAGTGATGATGATGGTGAGGATGGTGATGGTGA AGATGGTGATGATGAGATTGGTGATAGAATGGTGATGGTAATGACGATGT TGATGGTAATGAAGATGTCAATGATGGTGATGTGATGATAATGATGGTAA CGGTTATGATGATGGTGATGGTGATAATGATAATGGTGATGATGATGGTA ATGGTCACGATGGTGATAGTGATGATGATAGTGGTGATAATGATGGTGAT GTTGATAATTTTGGTGGTGATAATAGTTATGGTGATGATTGATGGTAATG AGGATGAGGATGATGACGATTATTATTATGATGATGATGGTGA	BSND	ENSG00000162399.9	transcript	ENST00000651561.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMKK2_chr12_121232692_121301709	121255222	A A	ATATATAT others(664): Show ATATATATATAATTATATATATATATAATTATATATATAATTTTATATAT ATATAATTATATATATATATAATTATATATATAATTTTATATATATATAA TTATATATATAATTTTATATATATATAATTATATATATTTATATATATAT AATTATATATATATATAAAATTATATATATAATTATATATATTATATATA ATTATATATATAATTTTATATATATAATTATATATATTTATATATATATA TATAATTATATATATATATAAAATTATATATATAATTATATATATATTAT ATATAATTATATATATATATTATATATAATTTTATATATATAATTATATA TATAATTTTATATATATAATTTTATATATATAATTTTATATATATAATTT TATATATATAATTATATATATAATTTTATATATATATAATTATATATATA ATTTTATATATATATAATTATATATATAATTTTATATATATATAATTATA TATATAATTTTATATATATATAATTATATATATAATTTTATATATATATA ATTATATATATAATTATATATATAATTTTATATATATAATTATATATATA ATTTTATATATATATAATTATATATATAATTTTATATATATAATTATATA TATAATTTTATATATATATAAT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0281 a0002c0002t0001g0281	1	94	0.0106	671	c.907 others(686): Show c.907+327_907+328insATTATATATATATAAAATTATATATATAAT TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATAAAATTATATATATAATTATATATATAATTATATATA TATAAAATTATATATATAATTATATATATATAAAATTATATATATAATTA TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATATAAAATTATATATATAATTATATATATAAAATTATA TATATAAAATTATATATATAAAATTATATATATAAAATTATATATATAAT TATATATATAAAATTATATATAATATATATATATAATTATATATAATATA TATATAATTATATATATAATTTTATATATATATATAATTATATATATATA TATAAATATATATAATTATATATATAAAATTATATATATAATTATATATA ATATATATAATTATATATATAATTTTATATATATATATAATTATATATAT ATAAATATATATAATTATATATATATAAAATTATATATATAATTATATAT ATATAAAATTATATATATAATTATATATATATATAATTATATATATATAA AATTATATATATAATTATATATATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121255330	T T	TTATATAT others(664): Show TTATATATACAATTTTATATATATATAATTATATATACAATTTTATATAT ATATAATTATATATACAATTTTATATATATATAATTATATATACAATTTT ATATATATATAATTATATATATATAATTATATATATAATTTTATATATAT ATAATTATATATATAATTTTATATATATAATTATATATATAATTTTATAT ATATATAATTATATATATAATTTTATATATAATTATATATATAATTTTAT ATATAATTATATATATAATTTTATATATAATTATATATATAATTTTATAT ATAATTATATATATAATTTTATATATAATTATATATATAATTTTATATAT ATATAATTATATATATTATATAATTTTATATATATAATTATATATATTAT ATAATTATATATATAATTTTATATATATATAATTATATATACAATTTTAT AATATATATAATTATATATACAATTATATATATATATAATTATATATATA TAATTGTATATATAATTTTATATATATAATTATATATAATTTTATATATA TATAATTATATATATAATTATATATATATAATTATATATATTTATATATA TATATAATTATATATATAATTTTATATATATAATTTTATATAATTTTATA TATAATTATATATATAATTTTA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0239 a0003c0003t0001g0239	1	286	0.0035	671	c.907 others(686): Show c.907+219_907+220insTAAAATTATATATATAATTATATATAAAAT TATATAAAATTATATATATAAAATTATATATATAATTATATATATATATA AATATATATAATTATATATATATAATTATATATATAATTATATATATATA AAATTATATATAATTATATATATAAAATTATATATACAATTATATATATA TAATTATATATATATATAATTGTATATATAATTATATATATTATAAAATT GTATATATAATTATATATATATAAAATTATATATATAATTATATAATATA TATAATTATATATATAAAATTATATAATATATATAATTATATATATATAA AATTATATATATAATTATATATAAAATTATATATATAATTATATATAAAA TTATATATATAATTATATATAAAATTATATATATAATTATATATAAAATT ATATATATAATTATATATAAAATTATATATATAATTATATATATATAAAA TTATATATATAATTATATATATAAAATTATATATATAATTATATATATAT AAAATTATATATATAATTATATATATATAATTATATATATATAAAATTGT ATATATAATTATATATATATAAAATTGTATATATAATTATATATATATAA AATTGTATATATAATTATATATATATAAAATTGTATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CENPI_chrX_101093204_101171126	101137985	T T	TCTTTCTT others(664): Show TCTTTCTTTTTTTTTTTTTTAGACGGAGTCTTGCTGTGTTGCCAGGCTGG AGTGCAGTGGCGCGATCTCAGCTCATTGCAACCTCCGCCTCCCGGGTTGA AGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCGCGTG CCACCACGCCTGGCTAATTTTTTTGGTATTTTTAGTAGAGACGGGGTTTC ACCATGTTAGCCAGGATGGTCTCAATCTCCTGACATCATTATCAGACCGC CTTGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGC TCAACTTTGTTTTTAAAAAGAGAAAACCGGCCATAGGGCGGTGGCTTATG CCTATAATCCCAGTAATTTGGGAGACCGAGGCGGGTGGATCATTTGAGGT CAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTA AAAATACAAAAATTAGCCGGGTGGTAGTAGCGCACACCTGTAATCCCAGC TACTAAAGAGGATGAAGCCAGAGAATCGCTTGAGCCTAGGAGGCAGAGGT TGCAGTGAGCTGAGATCATGCCACTGCACTCCAGTTTGGGCGATGGAGTG AGATCCTGTCTCAAAAAAATAAAAAGACAAAACCTGTGTCCCCTTATCGT CATGAACATAAAAACCTCGTAC	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	104	0.0096	671	c.147 others(690): Show c.1471-2677_1471-2676insCTTTTTTTTTTTTTTAGACGGAGTCT TGCTGTGTTGCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCATTGCAA CCTCCGCCTCCCGGGTTGAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAG CTGGGAGTACAGGCGCGTGCCACCACGCCTGGCTAATTTTTTTGGTATTT TTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCT GACATCATTATCAGACCGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGC GTGAGCCACTGCGCCTGGCTCAACTTTGTTTTTAAAAAGAGAAAACCGGC CATAGGGCGGTGGCTTATGCCTATAATCCCAGTAATTTGGGAGACCGAGG CGGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGG TGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGGTAGTAGC GCACACCTGTAATCCCAGCTACTAAAGAGGATGAAGCCAGAGAATCGCTT GAGCCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTC CAGTTTGGGCGATGGAGTGAGATCCTGTCTCAAAAAAATAAAAAGACAAA ACCTGTGTCCCCTTATCGTCATGAACATAAAAACCTCGTACCTTT	CENPI	ENSG00000102384.14	transcript	ENST00000682095.1	protein_coding	15/21		INFO_REALIGN_3_PRIME	chrX	TogoVar
CENPI_chrX_101093204_101171126	101137986	C C	CTTTCTTT others(664): Show CTTTCTTTTTTTTTTTTTTAGACGGAGTCTTGCTGTGTTGCCAGGCTGGA GTGCAGTGGCGCGATCTCAGCTCATTGCAACCTCCGCCTCCCGGGTTGAA GCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCGCGTGC CACCACGCCTGGCTAATTTTTTGGTATTTTTAGTAGAGACGGGGTTTCAC CATGTTAGCCAGGATGGTCTCAATCTCCTGACATCATTATCAGACCGCCT TGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTC AACTTTGTTTTTAAAAAGAGAAAACCGGCCATAGGGCGGTGGCTTATGCC TATAATCCCAGTAATTTGGGAGACCGAGGCGGGTGGATCATTTGAGGTCA GGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAA AATACAAAAATTAGCCGGGTGGTAGTAGCGCACACCTGTAATCCCAGCTA CTAAAGAGGATGAAGCCAGAGAATCGCTTGAGCCTAGGAGGCAGAGGTTG CAGTGAGCTGAGATCATGCCACTGCACTCCAGTTTGGGCGATGGAGTGAG ATCCTGTCTCAAAAAAATAAAAAGACAAAACCTGTGTCCCCTTATCGTCA TGAACATAAAAACCTCGTACCT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0123 a0001c0001t0004g0123	1	190	0.0053	671	c.147 others(690): Show c.1471-2677_1471-2676insCTTTTTTTTTTTTTTAGACGGAGTCT TGCTGTGTTGCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCATTGCAA CCTCCGCCTCCCGGGTTGAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAG CTGGGAGTACAGGCGCGTGCCACCACGCCTGGCTAATTTTTTGGTATTTT TAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCTG ACATCATTATCAGACCGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCG TGAGCCACTGCGCCTGGCTCAACTTTGTTTTTAAAAAGAGAAAACCGGCC ATAGGGCGGTGGCTTATGCCTATAATCCCAGTAATTTGGGAGACCGAGGC GGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGT GAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGGTAGTAGCG CACACCTGTAATCCCAGCTACTAAAGAGGATGAAGCCAGAGAATCGCTTG AGCCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCC AGTTTGGGCGATGGAGTGAGATCCTGTCTCAAAAAAATAAAAAGACAAAA CCTGTGTCCCCTTATCGTCATGAACATAAAAACCTCGTACCTTTT	CENPI	ENSG00000102384.14	transcript	ENST00000682095.1	protein_coding	15/21		INFO_REALIGN_3_PRIME	chrX	TogoVar
CENPI_chrX_101093204_101171126	101137987	T T	TGTCTTTT others(664): Show TGTCTTTTTTTTTTTTTTTAGACGGAGTCTTGCTGTGTTGCCAGGCTGGA GTGCAGTGGCGCGATCTCAGCTCATTGCAACCTCCGCCTCCCGGGTTGAA GCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCGCGTGC CACCACGCCTGGCTAATTTTTTTGGTATTTTTAGTAGAGACAGGGTTTCA CCATGTTAGCCAGGATGGTCTCAGTCTCCTGACATCATTATCAGACCGCC TTGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCT CAACTTTGTTTTTAAAAAGAGAAAACCGGCCATAGGGCGGTGGCTTATGC CTATAATCCCAGTAATTTGGGAGACCGAGGCGGGTGGATCATTTGAGGTC AGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAA AAATACAAAAATTAGCCGGGTGGTAGTAGCGCACACCTGTAATCCCAGCT ACTAAAGAGGATGAAGCCAGAGAATCGCTTGAGCCTAGGAGGCAGAGGTT GCAGTGAGCTGAGATCATGCCACTGCACTCCAGTTTGGGCGATGGAGTGA GATCCTGTCTCAAAAAAATAAAAAGACAAAACCTGTGTCCCCTTATCGTC ATGAACATAAAAACCTCGTACC	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02015.hp1 HG03041.hp2 others(2): Show HG01975.hp2 HG02015.hp1 HG03041.hp2 NA18942.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0006 a0001c0002t0026 a0001c0002t0002 a0001c0002t0006 a0001c0002t0026	a0001c0002t0002g0223 a0001c0002t0002g0226 a0001c0002t0002g0242 others(2): Show a0001c0002t0002g0223 a0001c0002t0002g0226 a0001c0002t0002g0242 a0001c0002t0006g0263 a0001c0002t0026g0196	5	273	0.0183	671	c.147 others(690): Show c.1471-2679_1471-2678insGTCTTTTTTTTTTTTTTTAGACGGAG TCTTGCTGTGTTGCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCATTG CAACCTCCGCCTCCCGGGTTGAAGCAATTCTCCTGTCTCAGCCTCCCAAG TAGCTGGGAGTACAGGCGCGTGCCACCACGCCTGGCTAATTTTTTTGGTA TTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTCAGTCT CCTGACATCATTATCAGACCGCCTTGGCCTTCCAAAGTGCTGGGATTACA GGCGTGAGCCACTGCGCCTGGCTCAACTTTGTTTTTAAAAAGAGAAAACC GGCCATAGGGCGGTGGCTTATGCCTATAATCCCAGTAATTTGGGAGACCG AGGCGGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACA TGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGGTAGT AGCGCACACCTGTAATCCCAGCTACTAAAGAGGATGAAGCCAGAGAATCG CTTGAGCCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCA CTCCAGTTTGGGCGATGGAGTGAGATCCTGTCTCAAAAAAATAAAAAGAC AAAACCTGTGTCCCCTTATCGTCATGAACATAAAAACCTCGTACC	CENPI	ENSG00000102384.14	transcript	ENST00000682095.1	protein_coding	15/21			chrX	TogoVar
CENPI_chrX_101093204_101171126	101137987	T T	TTTCTTTT others(664): Show TTTCTTTTTTTTTTTTTTTAGACGGAGTCTTGCTGTGTTGCCAGGCTGGA GTGCAGTGGCGCGATCTCAGCTCATTGCAACCTCCGCCTCCCGGGTTGAA GCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCGCGTGC CACCACGCCTGGCTAATTTTTTTGGTATTTTTAGTAGAGACGGGGTTTCA CCATGTTAGCCAGGATGGTCTCAATCTCCTGACATCATTATCAGACCGCC TTGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCT CAACTTTGTTTTTAAAAAGAGAAAACCGGCCATAGGGCGGTGGCTTATGC CTATAATCCCAGTAATTTGGGAGACCGAGGCGGGTGGATCATTTGAGGTC AGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAA AAATACAAAAATTAGCCGGGTGGTAGTAGCGCACACCTGTAATCCCAGCT ACTAAAGAGGATGAAGCCAGAGAATCGCTTGAGCCTAGGAGGCAGAGGTT GCAGTGAGCTGAGATCATGCCACTGCACTCCAGTTTGGGCGATGGAGTGA GATCCTGTCTCAAAAAAATAAAAAGACAAAACCTGTGTCCCCTTATCGTC ATGAACATAAAAACCTCGTACC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01169.hp1 NA18955.hp1 others(3): Show HG00558.hp1 HG01169.hp1 NA18955.hp1 NA18986.hp1 NA18994.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0067 a0001c0001t0001g0076 others(3): Show a0001c0001t0001g0042 a0001c0001t0001g0067 a0001c0001t0001g0076 a0001c0001t0001g0094 a0001c0001t0001g0110 a0001c0001t0001g0112	6	274	0.0219	671	c.147 others(690): Show c.1471-2677_1471-2676insCTTTTTTTTTTTTTTTAGACGGAGTC TTGCTGTGTTGCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCATTGCA ACCTCCGCCTCCCGGGTTGAAGCAATTCTCCTGTCTCAGCCTCCCAAGTA GCTGGGAGTACAGGCGCGTGCCACCACGCCTGGCTAATTTTTTTGGTATT TTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCC TGACATCATTATCAGACCGCCTTGGCCTTCCAAAGTGCTGGGATTACAGG CGTGAGCCACTGCGCCTGGCTCAACTTTGTTTTTAAAAAGAGAAAACCGG CCATAGGGCGGTGGCTTATGCCTATAATCCCAGTAATTTGGGAGACCGAG GCGGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATG GTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGGTAGTAG CGCACACCTGTAATCCCAGCTACTAAAGAGGATGAAGCCAGAGAATCGCT TGAGCCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACT CCAGTTTGGGCGATGGAGTGAGATCCTGTCTCAAAAAAATAAAAAGACAA AACCTGTGTCCCCTTATCGTCATGAACATAAAAACCTCGTACCTT	CENPI	ENSG00000102384.14	transcript	ENST00000682095.1	protein_coding	15/21		INFO_REALIGN_3_PRIME	chrX	TogoVar
CENPI_chrX_101093204_101171126	101137987	T T	TTTCTTTT others(664): Show TTTCTTTTTTTTTTTTTTTAGACGGAGTCTTGCTGTGTTGCCAGGCTGGA GTGCAGTGGCGCGATCTCAGCTCATTGCAACCTCCGCCTCCCGGGTTGAA GCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCGCGTGC CACCACGCCTGGCTAATTTTTTTGGTATTTTTAGTAGAGACGGGGTTTCA CCATGTTAGCCAGGATGGTCTCAATCTCCTGACATCATTATCAGACCGCC TTGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCT CAACTTTGTTTTTAAAAAGAGAAAACCGGCCGTAGGGCGGTGGCTTATGC CTATAATCCCAGTAATTTGGGAGACCGAGGCGGGTGGATCATTTGAGGTC AGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAA AAATACAAAAATTAGCCGGGTGGTAGTAGCGCACACCTGTAATCCCAGCT ACTAAAGAGGATGAAGCCAGAGAATCGCTTGAGCCTAGGAGGCAGAGGTT GCAGTGAGCTGAGATCATGCCACTGCACTCCAGTTTGGGCGATGGAGTGA GATCCTGTCTCAAAAAAATAAAAAGACAAAACCTGTGTCCCCTTATCGTC ATGAACATAAAAACCTCGTACC	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0087 a0001c0001t0011g0087	1	269	0.0037	671	c.147 others(690): Show c.1471-2677_1471-2676insCTTTTTTTTTTTTTTTAGACGGAGTC TTGCTGTGTTGCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCATTGCA ACCTCCGCCTCCCGGGTTGAAGCAATTCTCCTGTCTCAGCCTCCCAAGTA GCTGGGAGTACAGGCGCGTGCCACCACGCCTGGCTAATTTTTTTGGTATT TTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCC TGACATCATTATCAGACCGCCTTGGCCTTCCAAAGTGCTGGGATTACAGG CGTGAGCCACTGCGCCTGGCTCAACTTTGTTTTTAAAAAGAGAAAACCGG CCGTAGGGCGGTGGCTTATGCCTATAATCCCAGTAATTTGGGAGACCGAG GCGGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATG GTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGGTAGTAG CGCACACCTGTAATCCCAGCTACTAAAGAGGATGAAGCCAGAGAATCGCT TGAGCCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACT CCAGTTTGGGCGATGGAGTGAGATCCTGTCTCAAAAAAATAAAAAGACAA AACCTGTGTCCCCTTATCGTCATGAACATAAAAACCTCGTACCTT	CENPI	ENSG00000102384.14	transcript	ENST00000682095.1	protein_coding	15/21		INFO_REALIGN_3_PRIME	chrX	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(664): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCC CCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCC AACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCGC CCCTCCCCTCCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00544.hp1 others(40): Show HG00140.hp2 HG00280.hp2 HG00544.hp1 HG00741.hp1 HG01070.hp1 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01517.hp1 HG01891.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02148.hp1 HG02155.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02965.hp2 HG03130.hp2 HG03491.hp1 HG03834.hp1 NA18943.hp2 NA18946.hp2 NA18952.hp1 NA18963.hp1 NA18964.hp2 NA18980.hp1 NA18983.hp1 NA19011.hp1 NA19011.hp2 NA19067.hp2 NA19079.hp1 NA19088.hp1 NA19091.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2	a0001 a0003 a0022 others(3): Show a0001 a0003 a0022 a0027 a0039 a0050	a0001c0001 a0001c0009 a0001c0024 others(9): Show a0001c0001 a0001c0009 a0001c0024 a0001c0032 a0001c0057 a0001c0058 a0003c0003 a0003c0028 a0022c0035 a0027c0033 a0039c0062 a0050c0065	a0001c0001t0001 a0001c0001t0005 a0001c0009t0001 others(10): Show a0001c0001t0001 a0001c0001t0005 a0001c0009t0001 a0001c0024t0001 a0001c0032t0001 a0001c0057t0001 a0001c0058t0001 a0003c0003t0001 a0003c0028t0001 a0022c0035t0001 a0027c0033t0001 a0039c0062t0001 a0050c0065t0001	a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0023 others(18): Show a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0023 a0001c0001t0001g0088 a0001c0001t0001g0123 a0001c0001t0001g0167 a0001c0001t0001g0178 a0001c0001t0001g0182 a0001c0001t0005g0124 a0001c0009t0001g0002 a0001c0024t0001g0002 a0001c0032t0001g0122 a0001c0057t0001g0010 a0001c0058t0001g0002 a0003c0003t0001g0006 a0003c0003t0001g0059 a0003c0028t0001g0006 a0022c0035t0001g0002 a0027c0033t0001g0098 a0039c0062t0001g0002 a0050c0065t0001g0002	43	50	0.8600	671	c.217 others(686): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCC CCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCC AACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCGC CCCTCCCCTCCCCCCCCCCCGCGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(664): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCC CCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCC CAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCG CCCCTCCCCTCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	8	0.1250	671	c.217 others(686): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCC CCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCC CAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCG CCCCTCCCCTCCCCCCCCCCGCGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(664): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGC CCCTTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCC CCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCC AACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCGC CCCTCCCCTCCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18971.hp2 NA18995.hp1 others(1): Show NA18952.hp2 NA18971.hp2 NA18995.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0196 a0001c0001t0001g0024 a0001c0001t0001g0196	4	11	0.3636	671	c.217 others(686): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGC CCCTTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCC CCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCC AACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCGC CCCTCCCCTCCCCCCCCCCCGCGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(664): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCC CAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCG CCCCTCCCCTCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0068 a0003c0003t0001g0068	1	8	0.1250	671	c.217 others(686): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCC CAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCG CCCCTCCCCTCCCCCCCCCCGCGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(664): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCTGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCC CCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCC AACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCGC CCCTCCCCTCCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	8	0.1250	671	c.217 others(686): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCTGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCC CCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCC AACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCGC CCCTCCCCTCCCCCCCCCCCGCGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(664): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCC CAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCG CCCCTCCCCTCCCCCCCCCCAC	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	8	0.1250	671	c.217 others(686): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCC CAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCG CCCCTCCCCTCCCCCCCCCCACGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(664): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCC CAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCG CCCCTCCCCTCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01981.hp1 NA18961.hp2 others(1): Show HG00733.hp1 HG01981.hp1 NA18961.hp2 NA19085.hp2	a0001 a0030 a0001 a0030	a0001c0001 a0030c0074 a0001c0001 a0030c0074	a0001c0001t0001 a0030c0074t0001 a0001c0001t0001 a0030c0074t0001	a0001c0001t0001g0022 a0030c0074t0001g0173 a0001c0001t0001g0022 a0030c0074t0001g0173	4	11	0.3636	671	c.217 others(686): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCC CAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCG CCCCTCCCCTCCCCCCCCCCGCGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
COL19A1_chr6_69861556_70217468	69920974	G G	GTATATTC others(664): Show GTATATTCATATATATATTCATATGTATATTCATATATATGATATATATC ATATATACATATGATATATACATGATATATATGATATATATGATATATAT GATATATATATGATATATATGATACATATGATATATATGATATATATATG ATACAAATGATATATATGATATATATGATATATATGATATATATGATATA TATCATATATATATATCAGATATATGATATATATGATATATACATGATAT ATATGATACATATGATATATATGATATATATATGATACAATGATACAAAT GATATATATGATATATATGATATATATCAGATATATATATCATATATATC ATATATATCATTTGTATCATATATATATCATATATATCATATGTATCATA TATATCATGTATATATCATATATATCATATATATCATATATGTATTCATA TATATCATATATATTCATATATCATATATATTCATATATATCATATATTC ATATATATCATATATATTCATATATATCATATATTCATATATATCATATA TATTCATATATATATCATATATATTCATATATATATCATATATATTCATA TATATATCATATATATTCATATATATATCATATATATTCATATATATATC ATATATATTCATATATATCATA	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0097 a0001c0007t0005g0097	1	4	0.2500	671	c.267 others(688): Show c.267-6912_267-6911insGTATATTCATATATATGATATATATCAT ATATACATATGATATATACATGATATATATGATATATATGATATATATGA TATATATATGATATATATGATACATATGATATATATGATATATATATGAT ACAAATGATATATATGATATATATGATATATATGATATATATGATATATA TCATATATATATATCAGATATATGATATATATGATATATACATGATATAT ATGATACATATGATATATATGATATATATATGATACAATGATACAAATGA TATATATGATATATATGATATATATCAGATATATATATCATATATATCAT ATATATCATTTGTATCATATATATATCATATATATCATATGTATCATATA TATCATGTATATATCATATATATCATATATATCATATATGTATTCATATA TATCATATATATTCATATATCATATATATTCATATATATCATATATTCAT ATATATCATATATATTCATATATATCATATATTCATATATATCATATATA TTCATATATATATCATATATATTCATATATATATCATATATATTCATATA TATATCATATATATTCATATATATATCATATATATTCATATATATATCAT ATATATTCATATATATCATATATATTCATATATATATTCATAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL22A1_chr8_138583235_138919041	138692270	T T	TTGTGGAG others(664): Show TTGTGGAGGTGTGTGTATGTGTGTAATGTGTGTATGCATGTTTGTGGAGG TGTATGTGTGGAGGTGTGTGTGTATGTGTGCATGTTTGTGGAGGTGTATG CATGCGTGTGCATGTGAAGGTGTGTGAGTGAGTGTGTGCACGTTTGTGGA GGTGTGTGTGCACGTGTGTGTGTGCATGTTTGTGGAGGTGTGTGTATGTG TGTAATGTGTGTATGCACGTTTGTGGAGGTGTATGTGTGGAGGTGTGTGT GTATGTGTGCAGTGCATGTGTGCATGTTTGTGGAGGTGTATGCATGCGTG TGCATTTGTGAAGGTGTGTGAGTGTGTGCACGTTTGTGGAGGTGTGTGTG CACGTGTGTGTGTGCATGTTTGTGGAGGTGTGTATATGTGTACACATGCG TGTGTGCGTTTGTGGAGGTGTATGTGTGTACGTGTGTGTGCATGTTTGTG GTGGTATGTGTATGTGTGGAGGTGTGTATGTGTGCACGTGCATGTGTGCA TGTTTGTGGAGGTGTATGTGTGCACGTGCATGCACATTTGTGGACGTGTG TGCGTGTGTGTGCATGTTTGTGGAGGTGTGTGTGCGCGTGCGTGTATGCA TGTTTGTGGAGGTGTGTGTGTACATGTGTGTATGCATGTTTGTGGAGGTG TATGTGTGGAGGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18944.hp1 NA18985.hp1 others(2): Show HG02523.hp2 NA18944.hp1 NA18985.hp1 NA19060.hp1 NA19065.hp2	a0002 a0002	a0002c0004 a0002c0007 a0002c0009 others(1): Show a0002c0004 a0002c0007 a0002c0009 a0002c0011	a0002c0004t0006 a0002c0007t0001 a0002c0007t0005 others(2): Show a0002c0004t0006 a0002c0007t0001 a0002c0007t0005 a0002c0009t0015 a0002c0011t0006	a0002c0004t0006g0132 a0002c0007t0001g0082 a0002c0007t0005g0144 others(2): Show a0002c0004t0006g0132 a0002c0007t0001g0082 a0002c0007t0005g0144 a0002c0009t0015g0145 a0002c0011t0006g0121	5	53	0.0943	671	c.275 others(690): Show c.2754+1375_2754+1376insTACACACACACCTCCACACATACACC TCCACAAACATGCATACACACATGTACACACACACCTCCACAAACATGCA TACACGCACGCGCACACACACCTCCACAAACATGCACACACACGCACACA CGTCCACAAATGTGCATGCACGTGCACACATACACCTCCACAAACATGCA CACATGCACGTGCACACATACACACCTCCACACATACACATACCACCACA AACATGCACACACACGTACACACATACACCTCCACAAACGCACACACGCA TGTGTACACATATACACACCTCCACAAACATGCACACACACACGTGCACA CACACCTCCACAAACGTGCACACACTCACACACCTTCACAAATGCACACG CATGCATACACCTCCACAAACATGCACACATGCACTGCACACATACACAC ACACCTCCACACATACACCTCCACAAACGTGCATACACACATTACACACA TACACACACCTCCACAAACATGCACACACACACGTGCACACACACCTCCA CAAACGTGCACACACTCACTCACACACCTTCACATGCACACGCATGCATA CACCTCCACAAACATGCACACATACACACACACCTCCACACATACACCTC CACAAACATGCATACACACATTACACACATACACACACCTCCACA	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	35/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138692270	T T	TTGTGGAG others(664): Show TTGTGGAGGTGTGTGTATGTGTGTAATGTGTGTATGCATGTTTGTGGAGG TGTATGTGTGGAGGTGTGTGTGTATGTGTGCATGTTTGTGGAGGTGTATG CATGCGTGTGCATTTGTGAAGGTGTGTGAGTGAGTGTGTGCACGTTTGTG GAGGTGTGTGTGCACGTGTGTGTGTGCATGTTTGTGGAGGTGTGTGTATG TGTGTAATGTGTGTATGCACGTTTGTGGAGGTGTATGTGTGGAGGTGTGT GTGTATGTGTGCAGTGCATGTGTGCATGTTTGTGGAGGTGTATGCATGCG TGTGCATTTGTGAAGGTGTGTGAGTGTGTGCACGTTTGTGGAGGTGTGTG TGCACGTGTGTGTGTGCATGTTTGTGGAGGTGTGTATATGTGTACACATG CGTGTGTGCGTTTGTGGAGGTGTATGTGTGTACGTGTGTGTGCATGTTTG TGGTGGTATGTGTATGTGTGGAGGTGTGTATGTGTGCACGTGCATGTGCA TGTTTGTGGAGGTGTATGTGTGCACGTGCATGCACATTTGTGGACGTGTG TGCGTGTGTGTGCATGTTTGTGGAGGTGTGTGTGCGCGTGCGTGTATGCA TGTTTGTGGAGGTGTGTGTGTACATGTGTGTATGCATGTTTGTGGAGGTG TATGTGTGGAGGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0097 a0002c0004t0002g0097	1	49	0.0204	671	c.275 others(690): Show c.2754+1375_2754+1376insTACACACACACCTCCACACATACACC TCCACAAACATGCATACACACATGTACACACACACCTCCACAAACATGCA TACACGCACGCGCACACACACCTCCACAAACATGCACACACACGCACACA CGTCCACAAATGTGCATGCACGTGCACACATACACCTCCACAAACATGCA CATGCACGTGCACACATACACACCTCCACACATACACATACCACCACAAA CATGCACACACACGTACACACATACACCTCCACAAACGCACACACGCATG TGTACACATATACACACCTCCACAAACATGCACACACACACGTGCACACA CACCTCCACAAACGTGCACACACTCACACACCTTCACAAATGCACACGCA TGCATACACCTCCACAAACATGCACACATGCACTGCACACATACACACAC ACCTCCACACATACACCTCCACAAACGTGCATACACACATTACACACATA CACACACCTCCACAAACATGCACACACACACGTGCACACACACCTCCACA AACGTGCACACACTCACTCACACACCTTCACAAATGCACACGCATGCATA CACCTCCACAAACATGCACACATACACACACACCTCCACACATACACCTC CACAAACATGCATACACACATTACACACATACACACACCTCCACA	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	35/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138692270	T T	TTGTGGAG others(664): Show TTGTGGAGGTGTGTGTATGTGTGTAATGTGTGTATGCATGTTTGTGGAGG TGTATGTGTGGAGGTGTGTGTGTATGTGTGCATGTTTGTGGAGGTGTATG CATGCGTGTGCATTTGTGAAGGTGTGTGAGTGAGTGTGTGCACGTTTGTG GAGGTGTGTGTGCACGTGTGTGTGTGCATGTTTGTGGAGGTGTGTGTATG TGTGTAATGTGTGTATGCACGTTTGTGGAGGTGTATGTGTGGAGGTGTGT GTGTATGTGTGCAGTGCATGTGTGCATGTTTGTGGAGGTGTATGCATGCG TGTGCATTTGTGAAGGTGTGTGAGTGTGTGCACGTTTGTGGAGGTGTGTG TGCACGTGTGTGTGTGCATGTTTGTGGAGGTGTGTATATGTGTACACATG CGTGTGTGCGTTTGTGGAGGTGTATGTGTGTACGTGTGTGTGCATGTTTG TGGTGGTATGTGTATGTGTGGAGGTGTGTATGTGTGCACGTGCATGTGTG CATGTTTGTGGAGGTGTATGTGCACGTGCATGCACATTTGTGGACGTGTG TGCGTGTGTGTGCATGTTTGTGGAGGTGTGTGTGCGCGTGCGTGTATGCA TGTTTGTGGAGGTGTGTGTGTACATGTGTGTATGCATGTTTGTGGAGGTG TATGTGTGGAGGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0005 a0002c0011t0005	a0002c0011t0005g0146 a0002c0011t0005g0146	1	49	0.0204	671	c.275 others(690): Show c.2754+1375_2754+1376insTACACACACACCTCCACACATACACC TCCACAAACATGCATACACACATGTACACACACACCTCCACAAACATGCA TACACGCACGCGCACACACACCTCCACAAACATGCACACACACGCACACA CGTCCACAAATGTGCATGCACGTGCACATACACCTCCACAAACATGCACA CATGCACGTGCACACATACACACCTCCACACATACACATACCACCACAAA CATGCACACACACGTACACACATACACCTCCACAAACGCACACACGCATG TGTACACATATACACACCTCCACAAACATGCACACACACACGTGCACACA CACCTCCACAAACGTGCACACACTCACACACCTTCACAAATGCACACGCA TGCATACACCTCCACAAACATGCACACATGCACTGCACACATACACACAC ACCTCCACACATACACCTCCACAAACGTGCATACACACATTACACACATA CACACACCTCCACAAACATGCACACACACACGTGCACACACACCTCCACA AACGTGCACACACTCACTCACACACCTTCACAAATGCACACGCATGCATA CACCTCCACAAACATGCACACATACACACACACCTCCACACATACACCTC CACAAACATGCATACACACATTACACACATACACACACCTCCACA	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	35/64			chr8	TogoVar
DISP3_chr1_11474155_11542551	11522716	G G	GGCCCAGC others(664): Show GGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGAGCCCA GCCAGGACCCAGCCAGAGCCCAACCAGGGCCCAGCCAGGACCCAGCCAGG ACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAG CCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGA CCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGC CAGGGCCCAGCGAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGC CCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCC AGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGGCC CAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCA GAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCC AGCCAGGACCCAGCCAAAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAG GACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCA GCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGA GCCCAGCCAGGGCCCAGCGAGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0004 a0004	a0004c0016 a0004c0016	a0004c0016t0012 a0004c0016t0012	a0004c0016t0012g0054 a0004c0016t0012g0054	1	125	0.0080	671	c.236 others(690): Show c.2363-1215_2363-1214insACCCAGCCAGAGCCCAGCCAGGGCCC AGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAACCAGGGCCCAGCCAG GACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCA GCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGG ACCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAG CCAGAGCCCAGCCAGGGCCCAGCGAGAGCCCAGCCAGGACCCAGCCAGGG CCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGC CAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGAC CCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCC AGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCC CAGCCAGAGCCCAGCCAGGACCCAGCCAAAGCCCAGCCAGGACCCAGCCA GGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCC AGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAG GACCCAGCCAGAGCCCAGCCAGGGCCCAGCGAGAGCCCAGCCAGG	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar

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