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
ADARB2_chr10_1172313_1742525	1464707	C C	CGCTGGAG others(457): Show CGCTGGAGAAGAGGGTGGACACACACTCCCCCACACACGCGCTGGGGGCA GTCACAGCGGGCAGCGTGCTGGAGAAGAGGGTGGACACACACTCCCCCAC ACACATGCGCTGGGGGCAGTCACAGCGGGCAGTGCGCTGGAGAAGAGGGT GGACACACACTCCCCCACACACGCGCGGGGGGCAGTCACAGTGGGCAGCG TGCTGGAGAAGAGGGTGGACACACACTCCCCCACACACGCGCGGGGGGCA GTCACAGCGGGCAGTGCGCCGGAGAAGAGGGTGGACACACACTCCCCCAC ACACGCGCTGGGGGCAGTCACAGTGGGCAGCGTGCTGGAGAAGAGGGTGG ACACACACTCCCCCGCACACGCGCTGGGGGCAGTCACAGCAGGCAGTGCG CCGGAGAAGAGGGTGGACACACACTCCCCCACACACGCGCTGGGGACAGT CACAGCGGGCAGCGT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	106	0.0094	464	c.101 others(483): Show c.101-85548_101-85547insACGCTGCCCGCTGTGACTGTCCCCAG CGCGTGTGTGGGGGAGTGTGTGTCCACCCTCTTCTCCGGCGCACTGCCTG CTGTGACTGCCCCCAGCGCGTGTGCGGGGGAGTGTGTGTCCACCCTCTTC TCCAGCACGCTGCCCACTGTGACTGCCCCCAGCGCGTGTGTGGGGGAGTG TGTGTCCACCCTCTTCTCCGGCGCACTGCCCGCTGTGACTGCCCCCCGCG CGTGTGTGGGGGAGTGTGTGTCCACCCTCTTCTCCAGCACGCTGCCCACT GTGACTGCCCCCCGCGCGTGTGTGGGGGAGTGTGTGTCCACCCTCTTCTC CAGCGCACTGCCCGCTGTGACTGCCCCCAGCGCATGTGTGTGGGGGAGTG TGTGTCCACCCTCTTCTCCAGCACGCTGCCCGCTGTGACTGCCCCCAGCG CGTGTGTGGGGGAGTGTGTGTCCACCCTCTTCTCCAGC	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
AFF2_chrX_148495617_149005663	148581249	C C	CATATACG others(457): Show CATATACGTATACGTATACACACATATACGTATACGTATACACACATATA CGTATACGTATACACACATATACACGTATACGTATACACACATATACACG TATACGTATACACACATATACACGTATACGTATACGTGTACACACATATA CACGTATATACGTATACGTGTACACACATATACACGTATATACGTATACG TGTACACACATATATATACACGTATATATACGTATACGTGTACACACACA CACGTATATATACGTATACGTGTACACACACACGTATATATACGTATACG TGTACACACACACGTATATATACGTATACGTGTACACACACACGTATATA TACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACACA CACGTATATATACGTATACGTGTACACACACACGTATATACGTATACGTG TACACACACACACGT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0072 a0001c0002t0072	a0001c0002t0072g0018 a0001c0002t0072g0018	1	169	0.0059	464	c.48- others(481): Show c.48-70736_48-70735insATACACACATATACGTATACGTATACAC ACATATACGTATACGTATACACACATATACACGTATACGTATACACACAT ATACACGTATACGTATACACACATATACACGTATACGTATACGTGTACAC ACATATACACGTATATACGTATACGTGTACACACATATACACGTATATAC GTATACGTGTACACACATATATATACACGTATATATACGTATACGTGTAC ACACACACACGTATATATACGTATACGTGTACACACACACGTATATATAC GTATACGTGTACACACACACGTATATATACGTATACGTGTACACACACAC GTATATATACGTATACGTGTACACACACACGTATATATACGTATACGTGT ACACACACACGTATATATACGTATACGTGTACACACACACGTATATACGT ATACGTGTACACACACACACGTATATACGTATACGT	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AGMO_chr7_15195317_15567015	15406286	G G	GTGTGTAT others(457): Show GTGTGTATATATATGGAATATACATATATATGTGTATATATATGGAATAT ACATATATATGTGTATATATATGGAATATACATATATATGTGTATATATA TGGAATATACATATATATGTGTATATATATGGAATATACATATATATGTG TATATATATGGAATATACATATATATGTGTATATATATGGAATATACATA TATATGTGTATATATATGGAATATACATATATATGTGTATATATATGGAA TATACATATATATGTGTATATATATGGAATATACATATATATGTGTATAT ATATGGAATATACATATATATGTGTATATATATGGAATATACATATATAT GTGTATATATATGGAATATACATATATATGTGTATATATATGGAATATAC ATATATATGTGTATATATATGGAATATACATATATATGTGTATATATATG GAATATACATATATA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0141 a0001c0003t0001g0141	1	236	0.0042	464	c.610 others(483): Show c.610-12108_610-12107insTATATATGTATATTCCATATATATAC ACATATATATGTATATTCCATATATATACACATATATATGTATATTCCAT ATATATACACATATATATGTATATTCCATATATATACACATATATATGTA TATTCCATATATATACACATATATATGTATATTCCATATATATACACATA TATATGTATATTCCATATATATACACATATATATGTATATTCCATATATA TACACATATATATGTATATTCCATATATATACACATATATATGTATATTC CATATATATACACATATATATGTATATTCCATATATATACACATATATAT GTATATTCCATATATATACACATATATATGTATATTCCATATATATACAC ATATATATGTATATTCCATATATATACACATATATATGTATATTCCATAT ATATACACATATATATGTATATTCCATATATATACACA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	5/12			chr7	TogoVar
ANKLE2_chr12_132720503_132766832	132729596	A A	AAGGTGAG others(457): Show AAGGTGAGGGGAGGGGGAGGAGGAGGTGAGGGGAGTGGAAGGGTGGGAGG GGAGGGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGGACGGGTGGGAG GGGGAGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGGGAAGGTGAGGGG AGGGGGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGGGGAGGGGGAGG GGAGTCGACGAGTGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGGTGGGA GGGGAGGGGGAGGGTGGGAGGGGAGGGGGAGGGTGGGAGGGGAGGGGGAG GGGAGGATGGGAGGGGAGGGGGAGGGGAGGGGAAGGTGAGAGAAGGGGGA GGGGAAGGCGAGGGGAAGGCGAGGGGAGGGGGAGGGGAAGGCGAGGGGAG GGGAGGGGGAGGGGGAGGCGAGGGGAGGGGGAGGGGAAGGCGAGGGGAGG GGGAGGGGGGAGGCG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	350	0.0029	464	c.248 others(479): Show c.2483+82_2483+83insCGCCTCCCCCCTCCCCCTCCCCTCGCCTTC CCCTCCCCCTCCCCTCGCCTCCCCCTCCCCCTCCCCTCCCCTCGCCTTCC CCTCCCCCTCCCCTCGCCTTCCCCTCGCCTTCCCCTCCCCCTTCTCTCAC CTTCCCCTCCCCTCCCCCTCCCCTCCCATCCTCCCCTCCCCCTCCCCTCC CACCCTCCCCCTCCCCTCCCACCCTCCCCCTCCCCTCCCACCCCCCCTCC CCTCCCCTCCCCCTCCCCTCCCACTCGTCGACTCCCCTCCCCCTCCCCCT CCCCTCCCACCCATCCACTCCCCTCTCCTCCCCCTCCCCTCACCTTCCCC TCCCCTCCCCCTCCCACCCTCCCCTCCCCCTCCCCCTCCCACCCGTCCAC TCCCCTCACCTCCCCCTCCCCTCACCTCCCCCTCCCCTCCCACCCTTCCA CTCCCCTCACCTCCTCCTCCCCCTCCCCTCACCT	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
APOOL_chrX_84998877_85098315	85088046	G G	GTATTAAT others(457): Show GTATTAATACATATATGTATAAATACGTATTAATACATATATGTATAAAT ACATACATATTTATACATATATGTATACATACATATTTATACATATATAT GTATAAATACATACATATTTATACATATATATGTATAAATACATACATAT TTATACATATATATGTATAAATACGTACATATTTATACATATATATGTAT AAATACGTACATATTTATACATATATATGTATAAATACGTACATATTTAT ACATATATATGTATAAATACGTACATATTTATACATATATATGTATAAAT ACGTACATATTTATACATATATATGTATAAATACGTACATATTTATACAT ATATGTATAAATACGTACATATTTATACATATATGTATAAATACATATAC ATATTTATACATATATGTATAAATACATATACATATTTATACATATATGT ATAAATACATATACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0044 a0001c0001t0045g0044	1	256	0.0039	464	c.37 others(473): Show c.372_*373insAATACATATATGTATAAATACGTATTAATACATATA TGTATAAATACATACATATTTATACATATATGTATACATACATATTTATA CATATATATGTATAAATACATACATATTTATACATATATATGTATAAATA CATACATATTTATACATATATATGTATAAATACGTACATATTTATACATA TATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGTA CATATTTATACATATATATGTATAAATACGTACATATTTATACATATATA TGTATAAATACGTACATATTTATACATATATATGTATAAATACGTACATA TTTATACATATATGTATAAATACGTACATATTTATACATATATGTATAAA TACATATACATATTTATACATATATGTATAAATACATATACATATTTATA CATATATGTATAAATACATATACATATT	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	9/9	373	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARHGAP39_chr8_144524179_144690846	144687797	C C	CGTGACCA others(457): Show CGTGACCACTCATTTACAGCGAGCACTTCCCACCCCCGTGACCACACACC AGCAGTGAGCACTTCCCACCCCCGTGACCACACACTAGCAGTGAGCACTT CCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCCGTGACC ACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACTCATTTACAGCGA GCACTTCCCACCCCCGTGACCACACACCAGCAGTGAGCACTTCCCACCCC CGTGACCACACACTAGCAGTGAGCACTTCCCACCCCGTGACCACACACTG GCGGCGACCATTTCCCACCCCCGTGACCACGCACTGGCGGCGACCATTTC CCACCCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCCGTGACC ACACACTAGCAGTGAGCACTTCCCACCCCGTGACCACACATTTACAGTGA GCACTTCCCACCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0067 a0002c0008t0001g0067	1	246	0.0041	464	c.-21 others(475): Show c.-2194_-2193insAGGGGTGGGAAGTGCTCACTGTAAATGTGTGGTC ACGGGGTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGT GCTCGCCGCCAGTGCGTGGTCACGGGGGTGGGAAATGGTCGCCGCCAGTG CGTGGTCACGGGGGTGGGAAATGGTCGCCGCCAGTGTGTGGTCACGGGGT GGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACT GCTGGTGTGTGGTCACGGGGGTGGGAAGTGCTCGCTGTAAATGAGTGGTC ACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGGTGGGAAGT GCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACTGCTAGTGT GTGGTCACGGGGGTGGGAAGTGCTCACTGCTGGTGTGTGGTCACGGGGGT GGGAAGTGCTCGCTGTAAATGAGTGGTCAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1952		chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1839476	T T	TGGTGTGG others(457): Show TGGTGTGGGCACTGTCCGGTGTGGGGACTGTCCGGTGTGGGGACTGTCCG GTGTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGTCGGGACAGTCTGGT GTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGTGGGCACTGTCCGGTGT GGGGACTGTCCGGTGTGGGGACTGTCCGGTGTGGGGACTGTCCGGTGTGG AAGCTGTCTGGTGTGGAAGCTGTCTGGTGTGGGGACTGTCTGGTGTGGGG ACTGTCTGGTGTGGGGACTGTCTTGTGTGGGGACTGTCTGGTGTGGGGAC TGTCTGGTGTGGGGACTGTATGGTGTGGGGACTGTATGGTGTGGGGACTG TCTAGTGTGGGGACTGTCCGCTGTGGAAGCTGTCTGGTGTGGAAGCTGTC TGGTGTGGGCGCTGTCTGGTGTGGGCACTGTCTGGTGTGGGGACTGTCCG GTGTGGGGACTGTCC	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0025 a0001c0018t0025	a0001c0018t0025g0296 a0001c0018t0025g0296	1	363	0.0028	464	c.-47 others(481): Show c.-47-3870_-47-3869insGCACTGTCCGGTGTGGGGACTGTCCGGT GTGGGGACTGTCCGGTGTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGT CGGGACAGTCTGGTGTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGTGG GCACTGTCCGGTGTGGGGACTGTCCGGTGTGGGGACTGTCCGGTGTGGGG ACTGTCCGGTGTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGTGGGGAC TGTCTGGTGTGGGGACTGTCTGGTGTGGGGACTGTCTTGTGTGGGGACTG TCTGGTGTGGGGACTGTCTGGTGTGGGGACTGTATGGTGTGGGGACTGTA TGGTGTGGGGACTGTCTAGTGTGGGGACTGTCCGCTGTGGAAGCTGTCTG GTGTGGAAGCTGTCTGGTGTGGGCGCTGTCTGGTGTGGGCACTGTCTGGT GTGGGGACTGTCCGGTGTGGGGACTGTCCGGTGTGG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF38_chr4_105547620_105685914	105586231	T T	TAAGAAAT others(457): Show TAAGAAATGCAAACAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGGGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCACGGTGGCGGGAGCCTGTAGTCCCAGCACTTTGGGAGGCCGA GGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGG GGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCACGGTGGC GGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTC CGCAGTCTGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0018 a0001c0003t0009g0018	1	186	0.0054	464	c.197 others(481): Show c.197-3003_197-3002insGGGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGAT CGAGACCATCCTGGCTAACAAGGGGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCACGGTGGCGGGAGCCTGTAGTCCCAGCACTTTGGG AGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCT AACAAGGGGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCA CGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCAC TGCAGTCCGCAGTCTGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAAAAAGAAATGCAAACA	ARHGEF38	ENSG00000236699.9	transcript	ENST00000420470.3	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
ATP10A_chr15_25673712_25868327	25758544	C C	TCACCTGC others(457): Show TCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCA TTCCGACCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAACT CATTCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACC CTAACTCATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTGCTCCA CCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCT GCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGA CCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTCATTCC GACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACT CATTCCGATCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACC CTAACTCATTCCGAC	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	300	0.0033	464	c.655 others(483): Show c.655-22403_655-22402insTCGGAATGAGTTAGGGTGGAGCAGGT GATCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGA GCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTG GAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTT AGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAA TGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGG TCGGAATGAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGT GGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGA GCAGGTGGTCGGAATGAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTG GAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGA	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
B4GALNT4_chr11_364499_387117	374880	G G	GAGGGAGG others(457): Show GAGGGAGGGAGGAGGAAGGGAGGGAGGAAGGGAGGGAGGAGGAAGGGAGG GAGGGAGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGGAGGG AGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGA GGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAG GGAGGGAGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG GAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAG GGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGG AAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA AGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0127 a0002c0002t0001g0127	1	184	0.0054	464	c.784 others(479): Show c.784-555_784-554insAAGGGAGGGAGGAGGAAGGGAGGGAGGGAG GAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGGAGGGAGGGAGG GAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGA GGAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGG AAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG AGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAG GGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG GAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
C20orf96_chr20_265863_295750	279033	C C	CGGGACGG others(457): Show CGGGACGGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGACGGAGGGAG GGAGGGAGGGCGGGACGGAGGGACGGAGGGAGGGAGGGAGGGCGGGAGGG CGGGACGGAGGGACGGAGGGAGGGAGGGCGGGAGGGAGGGAGGGACGGAG GGTGGGAGGGAGGGAGGGAGGGCGGGACGGAGGGCGGGAGGGCGGGACGG AGGGAGGGAGGGACGGAGGGCGGGAGGGAGGGAGGGAGGGAGGGAGGGCG GGAGGGAGGGAGGGACGGAGGGTGGGAGGGAGGGAGGGAGGGCGGGACGG AGGGCGGGAGGGCGGGACGGAGGGAGGGCGGGACGGAGGGACGGAGGGAG GGAGGGAGGGCGGGAGGGCGGGACGGAGGGACGGAGGGCGGGAGGGAGGG AGGGACGGAGGGCGGGAGGGAGGGAGGGACGGAGGGCGGGAGGGAGGGAG GGAGGGCGGGACGGA	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA19057.hp2 HG02572.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0283 a0001c0001t0001g0097 a0001c0001t0001g0283	2	410	0.0049	464	c.465 others(479): Show c.465+138_465+139insTCCGTCCCGCCCTCCCTCCCTCCCTCCCGC CCTCCGTCCCTCCCTCCCTCCCGCCCTCCGTCCCTCCCTCCCTCCCGCCC TCCGTCCCTCCGTCCCGCCCTCCCGCCCTCCCTCCCTCCCTCCGTCCCTC CGTCCCGCCCTCCCTCCGTCCCGCCCTCCCGCCCTCCGTCCCGCCCTCCC TCCCTCCCTCCCACCCTCCGTCCCTCCCTCCCTCCCGCCCTCCCTCCCTC CCTCCCTCCCTCCCGCCCTCCGTCCCTCCCTCCCTCCGTCCCGCCCTCCC GCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCACCCTCCGTCCCTCCCTC CCTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCGCCCTCCC TCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCGTCCCTC CGTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C4orf19_chr4_37448925_37598510	37585358	G G	GAGGAGGG others(457): Show GAGGAGGGGAGATCAGAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTG TTGAGGGAGAGGAGGGGAGATCAGAGGTGTTGAGGGAAGGGAGGGGAGAG GAGAGGTGTTGAGGGAGAGGAGGGGAGATCAGAGGTGTTGAGGGAAGGGA GGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAAATGTTGAG GGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAGAG GTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGTG GAGGAGAGGTATTGAGGGAGGGGAGGGTGGAGGAGAGGTATTGAGGGAGG GGAGGGGAGAGGAGAGGTATTGAGGGAGGGGAGGGGAGAGGAGAGGTGTT GAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGATCA GAGGTGTTGAGGGAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0280 a0001c0001t0005g0280	1	354	0.0028	464	c.-22 others(481): Show c.-22-3488_-22-3487insAGGAGGGGAGATCAGAGGTGTTGAGGGA AGGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGATCAGAGGTG TTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAT CAGAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGA GGGGAGAGGAGAAATGTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAG GGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAG GTGTTGAGGGAGGGGAGGGTGGAGGAGAGGTATTGAGGGAGGGGAGGGTG GAGGAGAGGTATTGAGGGAGGGGAGGGGAGAGGAGAGGTATTGAGGGAGG GGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTT GAGGGAGAGGAGGGGAGATCAGAGGTGTTGAGGGAA	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3			chr4	TogoVar
C4orf19_chr4_37448925_37598510	37585467	T T	TGAGGGAG others(457): Show TGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGATC AGAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAG GGTAGAGGAGAGGTATTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGG GAGGGGAGGGGAGAGGAAAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGA TATCGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAG AGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGGG GAGGGGAGATCAGAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTG AGGGAGGGGAGGGTAGAGGAGAGGTATTGAGGGAGGGGAGGGGAGAGGAG AGATGTTGAGGGAGGGGAGGGGAGAGGAAAGGTGTTGAGGGAGGGGAGGG GAGAGGAGAGATATC	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	354	0.0028	464	c.-22 others(481): Show c.-22-3372_-22-3371insAGGAGGGGAGAGGAGAGGTGTTGAGGGA GGGGAGGGGAGATCAGAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTG TTGAGGGAGGGGAGGGTAGAGGAGAGGTATTGAGGGAGGGGAGGGGAGAG GAGAGATGTTGAGGGAGGGGAGGGGAGAGGAAAGGTGTTGAGGGAGGGGA GGGGAGAGGAGAGATATCGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAG GGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAG GTGTTGAGGGAGGGGAGGGGAGATCAGAGGTGTTGAGGGAAGGGAGGGGA GAGGAGAGGTGTTGAGGGAGGGGAGGGTAGAGGAGAGGTATTGAGGGAGG GGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAAAGGTGTT GAGGGAGGGGAGGGGAGAGGAGAGATATCGAGGGAG	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGT others(457): Show TGGCGGGTGAATAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGTCAGCGTGCATAGGGCCGGGGGTGGGGTA CGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTG TGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTA CGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTG GGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTA CGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTG TGTACGGGGCAGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGG GGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAG GCGGGGTGTGTACGG	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	338	0.0030	464	c.300 others(481): Show c.300-9386_300-9385insATAGACGGTCGGCATGCATAGGGCCGGA GGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCAGCGTGCATAGGGCC GGGGGTGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCC GGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAG GCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAG GCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAG GCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCC GGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGTCGGCGTGCGTAGG GGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCG TAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGA	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGT others(457): Show TGGCGGGTGAATAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGTCAGCGTGCATAGGGCCGGGGGCGGGGTA CGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTG TGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTA CGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTG GGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTA CGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTG TGTACGGGGCAGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGG GGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAG GCGGGGTGTGTACGG	intron_variant intron_variant	MODIFIER	HG02735.hp1 NA18944.hp2 NA18967.hp1 others(2): Show HG02735.hp1 NA18944.hp2 NA18967.hp1 NA18970.hp2 NA19065.hp1	a0001 a0057 a0001 a0057	a0001c0001 a0057c0097 a0001c0001 a0057c0097	a0001c0001t0001 a0001c0001t0002 a0057c0097t0001 a0001c0001t0001 a0001c0001t0002 a0057c0097t0001	a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 others(2): Show a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0002g0102 a0057c0097t0001g0240	5	338	0.0148	464	c.300 others(481): Show c.300-9386_300-9385insATAGACGGTCGGCATGCATAGGGCCGGG GGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCAGCGTGCATAGGGCC GGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCC GGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAG GCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAG GCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAG GCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCC GGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGTCGGCGTGCGTAGG GGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCG TAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGA	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGT others(457): Show TGGCGGGTGAATAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGTCGGCGTGCATAGGGCCGGGGGCGGGGTA CGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTG TGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTA CGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTG GGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTA CGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTG TGTACGGGGCAGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGG GGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAG GCGGGGTGTGTACGG	intron_variant intron_variant	MODIFIER	HG00639.hp2 NA18943.hp2 NA19065.hp2 HG00639.hp2 NA18943.hp2 NA19065.hp2	a0002 a0012 a0071 a0002 a0012 a0071	a0002c0057 a0012c0036 a0071c0100 a0002c0057 a0012c0036 a0071c0100	a0002c0057t0002 a0012c0036t0001 a0071c0100t0002 a0002c0057t0002 a0012c0036t0001 a0071c0100t0002	a0002c0057t0002g0100 a0012c0036t0001g0035 a0071c0100t0002g0089 a0002c0057t0002g0100 a0012c0036t0001g0035 a0071c0100t0002g0089	3	338	0.0089	464	c.300 others(481): Show c.300-9386_300-9385insATAGACGGTCGGCATGCATAGGGCCGGG GGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCGTGCATAGGGCC GGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCC GGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAG GCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAG GCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAG GCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCC GGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGTCGGCGTGCGTAGG GGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCG TAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGA	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGT others(457): Show TGGCGGGTGAATAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTA CGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTG TGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTA CGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTG GGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTA CGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTG TGTACGGGGCAGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGG GGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAG GCGGGGTGTGTACGG	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19011.hp1 NA19080.hp2 NA19000.hp1 NA19011.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0103 a0001c0001 a0001c0103	a0001c0001t0015 a0001c0001t0024 a0001c0103t0001 a0001c0001t0015 a0001c0001t0024 a0001c0103t0001	a0001c0001t0015g0116 a0001c0001t0024g0106 a0001c0103t0001g0077 a0001c0001t0015g0116 a0001c0001t0024g0106 a0001c0103t0001g0077	3	338	0.0089	464	c.300 others(481): Show c.300-9386_300-9385insATAGACGGTCGGCATGCATAGGGCCGGG GGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCC GGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCC GGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAG GCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAG GCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAG GCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCC GGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGTCGGCGTGCGTAGG GGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCG TAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGA	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1204872	G G	GCCCAGAT others(457): Show GCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCAGAT CAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGACCCAGATCAGTGCCG GGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGG TGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCC GCGGGTGGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTG GGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCA GATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCCAGATCAGT GCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGA GGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGG AGCCGCGGGTGGGGC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02738.hp1 HG01175.hp2 HG02738.hp1	a0040 a0059 a0040 a0059	a0040c0123 a0059c0124 a0040c0123 a0059c0124	a0040c0123t0001 a0059c0124t0037 a0040c0123t0001 a0059c0124t0037	a0040c0123t0001g0313 a0059c0124t0037g0067 a0040c0123t0001g0313 a0059c0124t0037g0067	2	338	0.0059	464	c.245 others(481): Show c.2452-201_2452-200insGCCCAGATCAGTGCCGGGGAGGGGTGGG AGCCGCGGGTGGGGACCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGG GTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCC CCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCCAGATC AGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGG GGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGT GGGAGCCGCGGGTGGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCC GCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGG GGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAG ATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1204914	C C	CCCCAGAT others(457): Show CCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGAT CAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCG GGGAGGGGTGGGAGCCGCGGGGTGGGGGCCCAGATCAGTGCCGGGGAGGG GTGGGAGCCGCGGGTGGGGGCCCAGATCAGTGCCGGGGAGGGGTGGGAGC CGCGGGTGGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGT GGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCC AGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGT GCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGA GGGGTGGGAGCCGCGGGTGGGGACCCAGATCAGTGCCGGGGAGGGGTGGG AGCCGCGGGTGGGGA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0018 a0018	a0018c0027 a0018c0027	a0018c0027t0001 a0018c0027t0001	a0018c0027t0001g0165 a0018c0027t0001g0165	1	338	0.0030	464	c.245 others(481): Show c.2452-159_2452-158insCCCCAGATCAGTGCCGGGGAGGGGTGGG AGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGG GGTGGGGGCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGG CCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCCAGAT CAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCG GGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGG TGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCC GCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGG GGACCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGACCCAG ATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(457): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTA AGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAG AGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0002 a0006c0011t0002	a0006c0011t0002g0149 a0006c0011t0002g0149	1	334	0.0030	464	c.-25 others(475): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(457): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTA AGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAG AGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0001 a0002c0002t0003g0001	1	334	0.0030	464	c.-25 others(475): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTACCACCTCTTAA TACTACCACCTCTTAATACTACCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(457): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGGTAGTAT TAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTA AGAGGTGGTAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAG AGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0284 a0002c0002t0009g0284	1	334	0.0030	464	c.-25 others(475): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAA TACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(457): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTAT TAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTA AGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAG AGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0002 a0006c0011t0002	a0006c0011t0002g0069 a0006c0011t0002g0069	1	334	0.0030	464	c.-25 others(475): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTACCACCTC TTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTT AATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAA TACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATA CTACCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CELF2_chr10_11012872_11341675	11107986	A A	ACTTCCCT others(457): Show ACTTCCCTCCCTCCCTCTCCCCCTTCTTCCCCTCCCCTTCCCCACTTCCC CCTTCTTCCCCTCCCCTTCCCCACTTCCCCCTTCTTCCCCCCCTTCCCCA CTTCCCCCTTCTTCCCCTTCCTACTCCCCCTCCCCCTTCCCACTCCCCCT TCCCACTTCCCACTCCCCCCTTCCCCCTTCCTACTCCCCCTTCCCCCTCT TCCTACTGCCCCTTCTCCCTCTTCCTACTTTCTACTCTCCCTTCCTCCTT CCCCCTACCGTCTTCCCCTCTCCCCCTCTCCCTACTCCCTCCATCTCCGC CTCTCCCCACTCCCCACTCCCTCCCTCTCCCTACTCCCCACTCCCTCCTT CTCCCCCCCTCCCCACTCCCTCCCTCTCCCCCTCTCCCCACTCTCTCCCT CTCCCCACTCCGCACTCCCTCCCTCTCCCCCCTCCCCACTCCCCACTCCC TCCCTCTTCCCCCCC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0117 a0001c0001t0006g0117	1	194	0.0052	464	c.75- others(481): Show c.75-57499_75-57498insTTCCCTCCCTCCCTCTCCCCCTTCTTCC CCTCCCCTTCCCCACTTCCCCCTTCTTCCCCTCCCCTTCCCCACTTCCCC CTTCTTCCCCCCCTTCCCCACTTCCCCCTTCTTCCCCTTCCTACTCCCCC TCCCCCTTCCCACTCCCCCTTCCCACTTCCCACTCCCCCCTTCCCCCTTC CTACTCCCCCTTCCCCCTCTTCCTACTGCCCCTTCTCCCTCTTCCTACTT TCTACTCTCCCTTCCTCCTTCCCCCTACCGTCTTCCCCTCTCCCCCTCTC CCTACTCCCTCCATCTCCGCCTCTCCCCACTCCCCACTCCCTCCCTCTCC CTACTCCCCACTCCCTCCTTCTCCCCCCCTCCCCACTCCCTCCCTCTCCC CCTCTCCCCACTCTCTCCCTCTCCCCACTCCGCACTCCCTCCCTCTCCCC CCTCCCCACTCCCCACTCCCTCCCTCTTCCCCCCCC	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CENPJ_chr13_24877279_24927861	24881852	C C	CTATATAG others(457): Show CTATATAGATATATAGATGCATCTATATAGATATATAGATGCATCTATAT AGATATATAATCTATATAGATATATAATCTATATAGATATATAGATACAT CTATATAGATATATAGATACATCTATATAGATATATAGATACATCTATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTATATATAG ATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGAT ACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATAC ATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACAT CTATATATAGATACATCTATATATAGATACATCTATATATAGATACATCT ATATATAGATACATCTATATATAGATACATCTATATATAGATACATCTAT ATATAGATACATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0012 a0001c0004t0001g0012	1	440	0.0023	464	c.13 others(475): Show c.1324_*1325insTAGATGTATCTATATATAGATGTATCTATATATA GATGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGA TGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATG TATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTA TCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTATC TATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTATCTA TATATAGATGTATCTATATATAGATGTATCTATATAGATGTATCTATATA TCTATATAGATGTATCTATATATCTATATAGATGTATCTATATATCTATA TAGATTATATATCTATATAGATTATATATCTATATAGATGCATCTATATA TCTATATAGATGCATCTATATATCTATATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		426		chr13	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(457): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTC CTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCCTCCTCCCTT CCCCCTTCCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCC TTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCC CCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTA CCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCC TCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0003 a0001c0002t0012g0003	1	354	0.0028	464	c.69 others(475): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCT CCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTC CCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTC CTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTC CCCCCCTCCTCCCTTCCCCCTTCCCCCCCTCCTCCCTTCCCCCTTCCCCC CTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCC CCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTC CTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTC TTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP61_chr20_20047532_20365698	20296130	C C	CCTTCCCT others(457): Show CCTTCCCTTCCTTCCTTCTCTCCTTCCTTCCTTCCCTCCCTCCTTCCCTT CCTTCCTTCTCTCCTTCCTTCCCTTCCTTCCTTCTCTCCTTCCTTCCCTT CCTTCCTTCTCTCCTTCCTTCCCTTCCTTCCTTCTCTCCTTCCTTCCCTT CCTTCCTTCTCTCCTTCCTTCCCTTCCTTCCTTCTCTCCTTCCTTCCCTT CCTTCCTTCTCTCCTTCCTTCCCTTGCTTCCTTTCTTCCTTCCTTTGCTT CCTTGCTTCCTTCTTTCCTTTCTTCATCCCTCCCTCCCTCCTTCCTTCCT TTCCTTCCTTCCCTCTATCCTTCCTTCCTTCCTTCTTTCCTTTCTTCATC CCTCCCTCCCTCCTTCCTTCCTTTCCTTCCTTCCCTCTATCCTTCCTTCC TTCCTTTCTTTCTCCCTCCCTTCCTTCCCTTCCTTCCTTCCCTCTTTTCC TTCCATCTTTCCTTT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0003 a0012c0018t0003	a0012c0018t0003g0122 a0012c0018t0003g0122	1	236	0.0042	464	c.321 others(483): Show c.3217-2046_3217-2045insCTTCCTTCCTTCTCTCCTTCCTTCCT TCCCTCCCTCCTTCCCTTCCTTCCTTCTCTCCTTCCTTCCCTTCCTTCCT TCTCTCCTTCCTTCCCTTCCTTCCTTCTCTCCTTCCTTCCCTTCCTTCCT TCTCTCCTTCCTTCCCTTCCTTCCTTCTCTCCTTCCTTCCCTTCCTTCCT TCTCTCCTTCCTTCCCTTCCTTCCTTCTCTCCTTCCTTCCCTTGCTTCCT TTCTTCCTTCCTTTGCTTCCTTGCTTCCTTCTTTCCTTTCTTCATCCCTC CCTCCCTCCTTCCTTCCTTTCCTTCCTTCCCTCTATCCTTCCTTCCTTCC TTCTTTCCTTTCTTCATCCCTCCCTCCCTCCTTCCTTCCTTTCCTTCCTT CCCTCTATCCTTCCTTCCTTCCTTTCTTTCTCCCTCCCTTCCTTCCCTTC CTTCCTTCCCTCTTTTCCTTCCATCTTTCCTTTCTTCC	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	24/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CLPTM1L_chr5_1312752_1350099	1329661	C C	CTGGTGGA others(457): Show CTGGTGGACAGGGCCTCAGGACTATCTGCCTGGTGGACAGGGCCTCAGGA CTCTCTGCCTGGTGGACAGAGCCTCAGGACTCTCTGCCTGGTGGACAGAG CCTCAGGACTCTCTGCTTGGTGGACAGAGCCTCAGGACTCTCTGCCTGGT GGACAGGGCCTCAGGACTCTCTGCCTGGTGGACAGGGCCTCAGGACTCTC TGCCTGGTGGACAGGGCCTCAGGACTCTCTGCCTGGTGGACAGGGCCTCA GGACTCTCTGCCTGGTGGACAGGGCCTCAGGACTCTCTGCCTGGTGGACA GAGCCTCAGGACTCTCTGCTTGGTGGACAGGGCCTCAGGACTCTCTGCTT GGTGGACAGGGCCTCAGGACTCTCTGCTTGGTGGACAGAGCCTCAGGACT CTCTGCTTGGTGGACAGGGCCTCAGGACTCTCTGCTTGGTGGACAGAGCC TCAGGACTCTCTGCT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0270 a0001c0001t0002g0270	1	370	0.0027	464	c.108 others(481): Show c.1080+618_1080+619insAGCAGAGAGTCCTGAGGCTCTGTCCACC AAGCAGAGAGTCCTGAGGCCCTGTCCACCAAGCAGAGAGTCCTGAGGCTC TGTCCACCAAGCAGAGAGTCCTGAGGCCCTGTCCACCAAGCAGAGAGTCC TGAGGCCCTGTCCACCAAGCAGAGAGTCCTGAGGCTCTGTCCACCAGGCA GAGAGTCCTGAGGCCCTGTCCACCAGGCAGAGAGTCCTGAGGCCCTGTCC ACCAGGCAGAGAGTCCTGAGGCCCTGTCCACCAGGCAGAGAGTCCTGAGG CCCTGTCCACCAGGCAGAGAGTCCTGAGGCCCTGTCCACCAGGCAGAGAG TCCTGAGGCTCTGTCCACCAAGCAGAGAGTCCTGAGGCTCTGTCCACCAG GCAGAGAGTCCTGAGGCTCTGTCCACCAGGCAGAGAGTCCTGAGGCCCTG TCCACCAGGCAGATAGTCCTGAGGCCCTGTCCACCA	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
CLTCL1_chr22_19174473_19296719	19202514	A A	ATCACGGC others(457): Show ATCACGGCACCTCCCCCAAAACCCCTCCTTCCGTCATCCACGGCACCTCC CGCACCACCCCTGCTTCACCATCCACGGCACCTCCCGCACCACCCCTCCT TCCGTCATCCACGGCACCTCCCGCACCACCCCTCCTTCGCCATCCACGGC ACCTCCCGCACCACCCCTCCTTCCGTCATCCACGGCACCTCCCGCACCAC CCCTCCTTCCGTCATCCACGGCACCTCCCGCACCACCCCTCCTTCCGTCA TCCACGGCACCTCCCGCACCACCCCTCCTTCCGTCATCCACGGCACCTCC CGCACCACCCCTCCTTCCGTCATCCACGGCACCTCCCGCACCACCCCTCC TTCGCCATCCACGGCACCTCCCGCACCACCCCTCCTTCCGTCATCCACGG CACCTCCCGCACCACCCCTCCTTCGCCATCCACGGCACCTCCCGCACCAC CCCTCCTTCCGTCAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03710.hp2 HG02615.hp2 HG03710.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0008 a0002c0001t0002 a0001c0003t0008 a0002c0001t0002	a0001c0003t0008g0329 a0002c0001t0002g0206 a0001c0003t0008g0329 a0002c0001t0002g0206	2	346	0.0058	464	c.360 others(483): Show c.3601-1022_3601-1021insATGACGGAAGGAGGGGTGGTGCGGGA GGTGCCGTGGATGGCGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGAC GGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGGCGAAGGAGGGGTGGT GCGGGAGGTGCCGTGGATGACGGAAGGAGGGGTGGTGCGGGAGGTGCCGT GGATGACGGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGACGGAAGGA GGGGTGGTGCGGGAGGTGCCGTGGATGACGGAAGGAGGGGTGGTGCGGGA GGTGCCGTGGATGACGGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGG CGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGACGGAAGGAGGGGTGG TGCGGGAGGTGCCGTGGATGGTGAAGCAGGGGTGGTGCGGGAGGTGCCGT GGATGACGGAAGGAGGGGTTTTGGGGGAGGTGCCGTGA	CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding	22/32			chr22	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(457): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCC TCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTC CTCCTCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCT CCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCC TCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18946.hp1 NA18945.hp2 NA18946.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0023 a0001c0005t0023	a0001c0005t0023g0189 a0001c0005t0023g0190 a0001c0005t0023g0189 a0001c0005t0023g0190	2	270	0.0074	464	c.162 others(485): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCT CCCCCTCCCCCTCCTCTTCCTCCTCCTCTTCCTCCTCCTCCTCCCCTTCC TCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTC CTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(457): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCC TCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCTTCCTCCTCTTCCTC CTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCT CCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCC TCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0072	a0001c0001t0072g0115 a0001c0001t0072g0115	1	270	0.0037	464	c.162 others(485): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCT CCCCCTCTTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCC TCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTC CTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(457): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCC TCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCTTCCTCCTCTTCCTC CTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCT CCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCC TCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01123.hp2 HG00738.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0018 a0001c0001t0012 a0001c0001t0018	a0001c0001t0012g0087 a0001c0001t0018g0091 a0001c0001t0012g0087 a0001c0001t0018g0091	2	270	0.0074	464	c.162 others(485): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCT CCCCCTCTTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCC TCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTC CTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL21A1_chr6_56051590_56252580	56098162	T T	TATATATA others(457): Show TATATATAAATATATATATATAAATATATATAAATATATAACTATATAAA TAAATATATATAAATATATAAATATATAAAAATATATATAAATATATATG TAAATATATAAATATATATAAATATATATAAATATATATAAGTATATAAA TATATATATAAATATATATAAGTATATAAATATATATATAAATATATATA AGTATATAAATATATATAAATATATATAAGTATATAAATATATATATAAA TATATATAAGTATATATAAATATATATAAATATATATAAGTATATATAAA TATATAAAAATATATATAAGTATATATAAATATATATAAATATATATAAA TATATGCAAATATATATAAATATATATAAATAGATATATAAATAGATATA AATAGATATAAATAGATATATAAATACATATATAAATAGATATAAATACA TATATAAATATATAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01074.hp1 HG01978.hp2 others(13): Show HG00597.hp1 HG01074.hp1 HG01978.hp2 HG03491.hp2 HG04228.hp2 NA18941.hp2 NA18943.hp1 NA18952.hp2 NA18975.hp1 NA19003.hp2 NA19004.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0005 a0001c0001t0009	a0001c0001t0005g0096 a0001c0001t0005g0135 a0001c0001t0005g0156 others(13): Show a0001c0001t0005g0096 a0001c0001t0005g0135 a0001c0001t0005g0156 a0001c0001t0005g0171 a0001c0001t0005g0172 a0001c0001t0005g0178 a0001c0001t0005g0226 a0001c0001t0005g0227 a0001c0001t0005g0228 a0001c0001t0005g0231 a0001c0001t0005g0233 a0001c0001t0005g0258 a0001c0001t0009g0031 a0001c0001t0009g0033 a0001c0001t0009g0034 a0001c0001t0009g0040	16	264	0.0606	464	c.181 others(483): Show c.1812+3309_1812+3310insTTATATATTTATATATGTATTTATAT CTATTTATATATGTATTTATATATCTATTTATATCTATTTATATCTATTT ATATATCTATTTATATATATTTATATATATTTGCATATATTTATATATAT TTATATATATTTATATATACTTATATATATTTTTATATATTTATATATAC TTATATATATTTATATATATTTATATATACTTATATATATTTATATATAT ATTTATATACTTATATATATTTATATATATTTATATACTTATATATATTT ATATATATATTTATATACTTATATATATTTATATATATATTTATATACTT ATATATATTTATATATATTTATATATATTTATATATTTACATATATATTT ATATATATTTTTATATATTTATATATTTATATATATTTATTTATATAGTT ATATATTTATATATATTTATATATATATATTTATATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
CSF2RA_chrX_1263814_1314935	1284603	T T	TTTTTTTT others(457): Show TTTTTTTTTTAAATTTTATAGACGAGATCTTGCTATGTTGCCAAGACTAG TTTTTGATTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGT CTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGCCTCAGC TTTCTGGGATCAAGTATCCTCCCACTCCAGCCTCCCAAGTAGCTGGGACT GCAGAAATACACCACCATGCCAAGCTAATTTAAATTTTTTTTTTTTAATT TTATAGAGGAGATCTTGCTATGTTGCCAAGACTAGTTTTTGATTTTTCTT TTTTTTTTTTTGAGATGGAGTCTTACTCTGTCTCCCAGGCTGGAGTGCAG TGGCGCGATCTCGGCTCACTGCAGCCTCAGCTTTCTGGGATCAAGTACCC TCCCACTCCAGCCTCCCAAGTAGCTGGGACTGCAGAAATACACCACCATG CCAAGCTAATTTAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0003 a0003	a0003c0020 a0003c0020	a0003c0020t0005 a0003c0020t0005	a0003c0020t0005g0129 a0003c0020t0005g0129	1	159	0.0063	464	c.77- others(479): Show c.77-1166_77-1165insAAATTTTATAGACGAGATCTTGCTATGTTG CCAAGACTAGTTTTTGATTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGT CTTACTCTGTCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTG CAGCCTCAGCTTTCTGGGATCAAGTATCCTCCCACTCCAGCCTCCCAAGT AGCTGGGACTGCAGAAATACACCACCATGCCAAGCTAATTTAAATTTTTT TTTTTTAATTTTATAGAGGAGATCTTGCTATGTTGCCAAGACTAGTTTTT GATTTTTCTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCTCCCAGGC TGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGCCTCAGCTTTCTGGGA TCAAGTACCCTCCCACTCCAGCCTCCCAAGTAGCTGGGACTGCAGAAATA CACCACCATGCCAAGCTAATTTAAATTTTTTTTT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1284626	C C	CGAGATCT others(457): Show CGAGATCTTGCTATGTTGCCAAGACTAGTTTTTGATTTTTTTTTTTTTTT TTTTTTTTGAGATGGAGTCTTACTCTGTCTCCCAGGCTGGAGTGCAGTGG CGCGATCTCGGCTCACTGCAGCCTCAGCTTTCTGGGATCAAGTATCCTCC CACTCCAGCCTCCCAAGTAGCTGGGACTGCAGAAATACACCACCATGCCA AGCTAATTTAAATTTTTTTTTTTTAATTTTATAGAGGAGATCTTGCTATG TTGCCAAGACTAGTTTTTGATTTTTCTTTTTTTTTTTTGAGATGGAGTCT TACTCTGTCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCA GCCTCAGCTTTCTGGGATCAAGTACCCTCCCACTCCAGCCTCCCAAGTAG CTGGGACTGCAGAAATACACCACCATGCCAAGCTAATTTAAATTTTTTTT TTTAATTTTATAGAG	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0097 a0001c0001t0003g0097	1	159	0.0063	464	c.77- others(479): Show c.77-1096_77-1095insTGAGATGGAGTCTTACTCTGTCTCCCAGGC TGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGCCTCAGCTTTCTGGGA TCAAGTATCCTCCCACTCCAGCCTCCCAAGTAGCTGGGACTGCAGAAATA CACCACCATGCCAAGCTAATTTAAATTTTTTTTTTTTAATTTTATAGAGG AGATCTTGCTATGTTGCCAAGACTAGTTTTTGATTTTTCTTTTTTTTTTT TGAGATGGAGTCTTACTCTGTCTCCCAGGCTGGAGTGCAGTGGCGCGATC TCGGCTCACTGCAGCCTCAGCTTTCTGGGATCAAGTACCCTCCCACTCCA GCCTCCCAAGTAGCTGGGACTGCAGAAATACACCACCATGCCAAGCTAAT TTAAATTTTTTTTTTTAATTTTATAGAGGAGATCTTGCTATGTTGCCAAG ACTAGTTTTTGATTTTTTTTTTTTTTTTTTTTTT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1284661	T T	TTTTTTTT others(457): Show TTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCTCCCAG GCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGCCTCAGCTTTCTGG GATCAAGTATCCTCCCACTCCAGCCTCCCAAGTAGCTGGGACTGCAGAAA TACACCACCATGCCAAGCTAATTTAAATTTTTTTTTTTTAATTTTATAGA GGAGATCTTGCTATGTTGCCAAGACTAGTTTTTGATTTTTCTTTTTTTTT TTTTGAGATGGAGTCTTACTCTGTCTCCCAGGCTGGAGTGCAGTGGCGCG ATCTCGGCTCACTGCAGCCTCAGCTTTCTGGGATCAAGTACCCTCCCACT CCAGCCTCCCAAGTAGCTGGGACTGCAGAAATACACCACCATGCCAAGCT AATTTAAATTTTTTTTTTTAATTTTATAGAGGAGATCTTGCTATGTTGCC AAGACTAGTTTTTGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00423.hp2 others(28): Show HG00140.hp1 HG00423.hp1 HG00423.hp2 HG01106.hp1 HG01175.hp1 HG01192.hp2 HG01346.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp2 HG02148.hp1 HG02165.hp2 HG02273.hp1 HG03453.hp2 HG03710.hp1 HG03834.hp1 NA18954.hp1 NA18954.hp2 NA18966.hp2 NA18969.hp2 NA18973.hp2 NA18975.hp1 NA18984.hp2 NA19012.hp2 NA19063.hp1 NA19064.hp1 NA19080.hp1 NA19080.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0011c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0004 a0001c0002t0005 a0002c0003t0001 a0011c0022t0004	a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0047 others(28): Show a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0001g0070 a0001c0001t0001g0076 a0001c0001t0001g0086 a0001c0001t0001g0092 a0001c0001t0001g0101 a0001c0001t0001g0115 a0001c0001t0002g0034 a0001c0001t0002g0051 a0001c0001t0002g0071 a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0041 a0001c0001t0003g0093 a0001c0001t0003g0116 a0001c0001t0003g0118 a0001c0001t0003g0133 a0001c0001t0004g0049 a0001c0001t0004g0055 a0001c0001t0004g0057 a0001c0001t0004g0114 a0001c0002t0004g0058 a0001c0002t0004g0098 a0001c0002t0004g0110 a0001c0002t0005g0135 a0002c0003t0001g0003 a0011c0022t0004g0073	31	159	0.1950	464	c.77- others(479): Show c.77-1096_77-1095insTGAGATGGAGTCTTACTCTGTCTCCCAGGC TGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGCCTCAGCTTTCTGGGA TCAAGTATCCTCCCACTCCAGCCTCCCAAGTAGCTGGGACTGCAGAAATA CACCACCATGCCAAGCTAATTTAAATTTTTTTTTTTTAATTTTATAGAGG AGATCTTGCTATGTTGCCAAGACTAGTTTTTGATTTTTCTTTTTTTTTTT TTGAGATGGAGTCTTACTCTGTCTCCCAGGCTGGAGTGCAGTGGCGCGAT CTCGGCTCACTGCAGCCTCAGCTTTCTGGGATCAAGTACCCTCCCACTCC AGCCTCCCAAGTAGCTGGGACTGCAGAAATACACCACCATGCCAAGCTAA TTTAAATTTTTTTTTTTAATTTTATAGAGGAGATCTTGCTATGTTGCCAA GACTAGTTTTTGATTTTTTTTTTTTTTTTTTTTT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1284704	T T	TCCCAGGC others(457): Show TCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGCCTCAGCT TTCTGGGATCAAGTATCCTCCCACTCCAGCCTCCCAAGTAGCTGGGACTG CAGAAATACACCACCATGCCAAGCTAATTTAAATATTTTTTTTTTAATTT TATAGAGGAGATCTTGCTATGTTGCCAAGACTAGTTTTTGATTTTTCTTT TTTTTTTTTTTGAGATGGAGTCTTACTCTGTCTCCCAGGCTGGAGTGCAG TGGCGCGATCTCGGCTCACTGCAGCCTCAGCTTTCTGGGATCAAGTACCC TCCCACTCCAGCCTCCCAAGTAGCTGGGACTGCAGAAATACACCACCATG CCAAGCTAATTTAAATTTTTTTTTTTAATTTTATAGAGGAGATCTTGCTA TGTTGCCAAGACTAGTTTTTGATTTTTTTTTTTTTTTTTTTTTGAGATGG AGTCTTACTCTGTCA	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02622.hp2 HG02630.hp2 others(4): Show HG01993.hp1 HG02622.hp2 HG02630.hp2 HG02809.hp1 HG02809.hp2 HG03139.hp1 NA20129.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0018 a0002c0003 a0002c0006 others(2): Show a0001c0018 a0002c0003 a0002c0006 a0002c0019 a0004c0010	a0001c0018t0003 a0002c0003t0001 a0002c0003t0002 others(3): Show a0001c0018t0003 a0002c0003t0001 a0002c0003t0002 a0002c0006t0002 a0002c0019t0002 a0004c0010t0006	a0001c0018t0003g0107 a0002c0003t0001g0007 a0002c0003t0002g0005 others(4): Show a0001c0018t0003g0107 a0002c0003t0001g0007 a0002c0003t0002g0005 a0002c0003t0002g0149 a0002c0006t0002g0126 a0002c0019t0002g0006 a0004c0010t0006g0033	7	159	0.0440	464	c.77- others(479): Show c.77-1039_77-1038insCTGCAGCCTCAGCTTTCTGGGATCAAGTAT CCTCCCACTCCAGCCTCCCAAGTAGCTGGGACTGCAGAAATACACCACCA TGCCAAGCTAATTTAAATATTTTTTTTTTAATTTTATAGAGGAGATCTTG CTATGTTGCCAAGACTAGTTTTTGATTTTTCTTTTTTTTTTTTTTGAGAT GGAGTCTTACTCTGTCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCT CACTGCAGCCTCAGCTTTCTGGGATCAAGTACCCTCCCACTCCAGCCTCC CAAGTAGCTGGGACTGCAGAAATACACCACCATGCCAAGCTAATTTAAAT TTTTTTTTTTAATTTTATAGAGGAGATCTTGCTATGTTGCCAAGACTAGT TTTTGATTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCAC CCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCA	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1284738	C C	CACTGCAG others(457): Show CACTGCAGCCTCAGCTTTCTGGGATCAAGTATCCTCCCACTCCAGCCTCC CAAGTAGCTGGGACTGCAGAAATACACCACCATGCCAAGCTAATTTAAAT ATATTTTTTTAATTTTATAGAGGAGATCTTGCTATGTTGCCAAGACTAGT TTTTGATTTTTCTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCTCC CAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGCCTCAGCTTTC TGGGATCAAGTACCCTCCCACTCCAGCCTCCCAAGTAGCTGGGACTGCAG AAATACACCACCATGCCAAGCTAATTTAAATTTTTTTTTTTAATTTTATA GAGGAGATCTTGCTATGTTGCCAAGACTAGTTTTTGATTTTTTTTTTTTT TTTTTTTTTGAGATGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAGTG GCGCGATCTCGGCTT	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0159 a0001c0001t0004g0159	1	159	0.0063	464	c.77- others(479): Show c.77-1039_77-1038insCTGCAGCCTCAGCTTTCTGGGATCAAGTAT CCTCCCACTCCAGCCTCCCAAGTAGCTGGGACTGCAGAAATACACCACCA TGCCAAGCTAATTTAAATATATTTTTTTAATTTTATAGAGGAGATCTTGC TATGTTGCCAAGACTAGTTTTTGATTTTTCTTTTTTTTTTTTTTGAGATG GAGTCTTACTCTGTCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTC ACTGCAGCCTCAGCTTTCTGGGATCAAGTACCCTCCCACTCCAGCCTCCC AAGTAGCTGGGACTGCAGAAATACACCACCATGCCAAGCTAATTTAAATT TTTTTTTTTAATTTTATAGAGGAGATCTTGCTATGTTGCCAAGACTAGTT TTTGATTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCAC CCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTTA	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1284738	C C	CACTGCAG others(457): Show CACTGCAGCCTCAGCTTTCTGGGATCAAGTATCCTCCCACTCCAGCCTCC CAAGTAGCTGGGACTGCAGAAATACACCACCATGCCAAGCTAATTTAAAT ATATTTTTTTTAATTTTATAGAGGAGATCTTGCTATGTTGCCAAGACTAG TTTTTGATTTTTCTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCTC CCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGCCTCAGCTTT CTGGGATCAAGTACCCTCCCACTCCAGCCTCCCAAGTAGCTGGGACTGCA GAAATACACCACCATGCCAAGCTAATTTAAATTTTTTTTTTTAATTTTAT AGAGGAGATCTTGCTATGTTGCCAAGACTAGTTTTTGATTTTTTTTTTTT TTTTTTTTTGAGATGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAGTG GCGCGATCTCGGCTT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0004 a0001c0001t0013g0004	1	159	0.0063	464	c.77- others(479): Show c.77-1039_77-1038insCTGCAGCCTCAGCTTTCTGGGATCAAGTAT CCTCCCACTCCAGCCTCCCAAGTAGCTGGGACTGCAGAAATACACCACCA TGCCAAGCTAATTTAAATATATTTTTTTTAATTTTATAGAGGAGATCTTG CTATGTTGCCAAGACTAGTTTTTGATTTTTCTTTTTTTTTTTTTTGAGAT GGAGTCTTACTCTGTCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCT CACTGCAGCCTCAGCTTTCTGGGATCAAGTACCCTCCCACTCCAGCCTCC CAAGTAGCTGGGACTGCAGAAATACACCACCATGCCAAGCTAATTTAAAT TTTTTTTTTTAATTTTATAGAGGAGATCTTGCTATGTTGCCAAGACTAGT TTTTGATTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCAC CCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTTA	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CUL4A_chr13_113204613_113272108	113232186	G G	GTCACCAC others(457): Show GTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCA CCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACCACCC GCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCAC CACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATT ACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCA CCACCATTACTGCTGCCACCACTACCCGCCCACCACCATTACTGTCACCA CTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTAC TGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACC ACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACC TGCCCACCACCATTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	396	0.0025	464	c.513 others(479): Show c.513-991_513-990insTCACCACTACCCGCCCACCACCATTACTGT CACCACTACCTGCCCACCACCATTACTGTCACCACTACCTGCCCACCACC ATTACTGTCACCACCACCCGCCCACCACCATTACTGTCACCACTACCCGC CCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCA CTACCTGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTAC TGTCACCACTACCCGCCCACCACCATTACTGCTGCCACCACTACCCGCCC ACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACT ACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTG TCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCAC CATTACTGTCACCACTACCTGCCCACCACCATTA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar
DCLK1_chr13_35763652_36136382	35958284	G G	GCTATAAC others(457): Show GCTATAACCACCACCACCACCACTATAACCATCACCACCATCACCACTAT AACCACCACCACCACCACTATAACCACCATCATCATCACCACCACTACCA CTACTATAACCATTACCACCATTACTACTATAACCACCACCACCACCACC ACCACCACTATAATCATTACCACTATAACCACCACTACCACCACTACCAC TATGATAACCATCACCAACACCACTATAACCACCAATGCCAAGAAGTGTT CATAGCAGGAGTCATAAACACAGGACCAACCAGGGATAGGACCAACCAGG ACCAACCAGGACCAACACCACCACCACTACTACCACTACTATAACCATCA CCACCATCACTGCTATAATCACCACCACCACCACCATCACTATAATCATC ACCATCATCACCACTATAACCACCACCACCACCACCACCACCAGTTATAA CCATCACCACCACTA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	230	0.0044	464	c.724 others(483): Show c.724-10828_724-10827insTAGTGGTGGTGATGGTTATAACTGGT GGTGGTGGTGGTGGTGGTGGTTATAGTGGTGATGATGGTGATGATTATAG TGATGGTGGTGGTGGTGGTGATTATAGCAGTGATGGTGGTGATGGTTATA GTAGTGGTAGTAGTGGTGGTGGTGTTGGTCCTGGTTGGTCCTGGTTGGTC CTATCCCTGGTTGGTCCTGTGTTTATGACTCCTGCTATGAACACTTCTTG GCATTGGTGGTTATAGTGGTGTTGGTGATGGTTATCATAGTGGTAGTGGT GGTAGTGGTGGTTATAGTGGTAATGATTATAGTGGTGGTGGTGGTGGTGG TGGTGGTTATAGTAGTAATGGTGGTAATGGTTATAGTAGTGGTAGTGGTG GTGATGATGATGGTGGTTATAGTGGTGGTGGTGGTGGTTATAGTGGTGAT GGTGGTGATGGTTATAGTGGTGGTGGTGGTGGTTATAG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DLGAP2_chr8_732628_1713476	1384950	G G	GCACAGTT others(457): Show GCACAGTTACCCCGGCCTATGCCCGTCCCCTGAGAACTTGGTGCACAGTT ACCCCGGCCTATGCCCGGCCCCTGAGAACTTGGTGCACGGTTACCCCGGC CTGTGCCCGTCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTGTGCCC GGCCCCTGAGAACTTGGTGCACGGTTACCCCGGCCTGTGCCCGGCCCCTG AGAACTTGGTGCACAGTTACCCCGGCCTGTGCCCGTCCCCTGAGAACTTG GTGCACAGTTACCCCGGCCTGTGCCCGCCCCCTGAGAAATTGGTGCACAG TTACCCCGGCCTGTGCCCGTCCCCTGAGAACTTGGTGCACAGTTACCCCG GCCTGTGCCCGGCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTGTGC CCGTCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTGTGCCCGGCCCC TGAGAACTTGGTGCA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0024 a0001c0003t0024	a0001c0003t0024g0003 a0001c0003t0024g0003	1	40	0.0250	464	c.107 others(485): Show c.107-116414_107-116413insCAGTTACCCCGGCCTATGCCCGTC CCCTGAGAACTTGGTGCACAGTTACCCCGGCCTATGCCCGGCCCCTGAGA ACTTGGTGCACGGTTACCCCGGCCTGTGCCCGTCCCCTGAGAACTTGGTG CACAGTTACCCCGGCCTGTGCCCGGCCCCTGAGAACTTGGTGCACGGTTA CCCCGGCCTGTGCCCGGCCCCTGAGAACTTGGTGCACAGTTACCCCGGCC TGTGCCCGTCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTGTGCCCG CCCCCTGAGAAATTGGTGCACAGTTACCCCGGCCTGTGCCCGTCCCCTGA GAACTTGGTGCACAGTTACCCCGGCCTGTGCCCGGCCCCTGAGAACTTGG TGCACAGTTACCCCGGCCTGTGCCCGTCCCCTGAGAACTTGGTGCACAGT TACCCCGGCCTGTGCCCGGCCCCTGAGAACTTGGTGCACA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAH2_chr17_7712744_7838742	7838509	G G	GCTCGCCC others(457): Show GCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCT TTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTG GCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCG CCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCC CTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGG GCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGA GTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGG CCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATT TAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGT CTGTGAGTGTGTGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0006 a0006	a0006c0039 a0006c0039	a0006c0039t0001 a0006c0039t0001	a0006c0039t0001g0101 a0006c0039t0001g0101	1	316	0.0032	464	c.49 others(475): Show c.4976_*4977insCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCT TCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCT TGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTAT CGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCC GACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTC TGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCT GTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCG CCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGG GAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGT CGCTGGGGAAAGGGTCTGTGAGTGTGTGTA	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4768		chr17	TogoVar
DNM2_chr19_10713079_10836903	10758331	T T	TTCCCTCC others(457): Show TTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTT CCCTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCC TTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCT CCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCC TTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCT CCCTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCC TTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCTTCCCT CCTTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCC CTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCT CCCTCCTTCCTTCCC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0277 a0001c0001t0002g0277	1	278	0.0036	464	c.162 others(481): Show c.162-1404_162-1403insCTCCCTCCTTCCTTCCCTCCCTCCTTCC TTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCTTCCCT CCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCC TTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTT CCCTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCC CTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCCTCCCTCCTT CCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCC CTCCTTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCCT CCCTCCTTCCTTCCCTCCCTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCC TTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCC	DNM2	ENSG00000079805.19	transcript	ENST00000389253.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
DOCK8_chr9_209865_470255	400472	C C	CCACCTCC others(457): Show CCACCTCCACCATCACCACCACCTCCACCATCACCACCACCACCTCCACC ACCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCAT CTTCACCATCACCACCACCTCCACCACCACCACCACCTCCACCATCACCA CCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACC ACCACCAGCATCTTCACCATCACCACCACCTCCACCACCACCAGCATCTT CACCATCACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCA CCACCTCCACCATCACCACCACCTCCACCATCACCATCACCACCACCTCC ACCATCACCACCACCTCCACCACCACCACCTCCCCCACTACCAACAGCTC CTTCACCATCACCACAACATCCACCACCACCATCACCACCACCACCACCA CCTCCTCCACCATCA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0099 a0001c0003t0001g0099	1	256	0.0039	464	c.323 others(483): Show c.3234+1214_3234+1215insACCTCCACCATCACCACCACCTCCAC CATCACCACCACCACCTCCACCACCATCACCACCACCTCCACCATCACCA CCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCACC ACCACCACCTCCACCATCACCACCACCACCTCCACCACCACCAGCATCTT CACCATCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCA CCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCACCACC ACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCTCCAC CATCACCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACCA CCTCCCCCACTACCAACAGCTCCTTCACCATCACCACAACATCCACCACC ACCATCACCACCACCACCACCACCTCCTCCACCATCAC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
ERICH1_chr8_659200_736224	671295	C C	CGACCTCT others(457): Show CGACCTCTGAACCTGCCGGCCCCGGCTCTAATGTCTGCGCTCACTGGGCT CCAGGCTGAGACCTCTGAACCTGCCGGCCCCGGCTCTAATGTCTGCGCTC ACTGGGCTCCAGGCTGAGACCTCTGAACCTGCCGGCCCCGGCTCTAATGT CTGCGCTCACTGGGCTCCAGGCTGAGACCTCTGAACCTGCCGGCCCCGGC TCTAATGTCTGTGCTCACTGGTCCCCAGGCTCCGACCTCTGAACGTGCCA GCCCCGGTTCTAATGTCTGTGCTCACTGGGCTCCAGGCTCCGACCTCTGA ACCTGCCGGCCCTGGCTGTAATGTCTGTGCCCACTGGTCCCCAGGCTCTG ACCTCTGAACCCGCTGGCCCCTGCTCCGACCACTGAGCGCGCTGGTCCCC AGGCTCCGACCTCTGAACCTGCCGGCCCCGGCTCTAATGTCTGCGCTCAC TGGGCTCCAGGCTGA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00597.hp1 others(78): Show HG00423.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00741.hp1 HG01243.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02155.hp2 HG02165.hp2 HG02273.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02622.hp2 HG02717.hp1 HG02738.hp1 HG02818.hp2 HG02886.hp2 HG03017.hp2 HG03195.hp1 HG03209.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03704.hp2 HG03831.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18942.hp1 NA18944.hp1 NA18945.hp2 NA18955.hp2 NA18956.hp1 NA18960.hp2 NA18962.hp2 NA18967.hp1 NA18969.hp1 NA18970.hp1 NA18980.hp2 NA18983.hp1 NA18984.hp2 NA18990.hp2 NA18992.hp1 NA18994.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19079.hp1 NA19084.hp1 NA19087.hp2 NA19089.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20805.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0006c0008t0001 a0001c0001t0001 a0001c0001t0002 a0006c0008t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(73): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0034 a0001c0001t0001g0098 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0002g0254 a0001c0001t0002g0349 a0001c0001t0002g0353 a0006c0008t0001g0131 a0006c0008t0001g0179	81	378	0.2143	464	c.106 others(483): Show c.1063+1993_1063+1994insTCAGCCTGGAGCCCAGTGAGCGCAGA CATTAGAGCCGGGGCCGGCAGGTTCAGAGGTCGGAGCCTGGGGACCAGCG CGCTCAGTGGTCGGAGCAGGGGCCAGCGGGTTCAGAGGTCAGAGCCTGGG GACCAGTGGGCACAGACATTACAGCCAGGGCCGGCAGGTTCAGAGGTCGG AGCCTGGAGCCCAGTGAGCACAGACATTAGAACCGGGGCTGGCACGTTCA GAGGTCGGAGCCTGGGGACCAGTGAGCACAGACATTAGAGCCGGGGCCGG CAGGTTCAGAGGTCTCAGCCTGGAGCCCAGTGAGCGCAGACATTAGAGCC GGGGCCGGCAGGTTCAGAGGTCTCAGCCTGGAGCCCAGTGAGCGCAGACA TTAGAGCCGGGGCCGGCAGGTTCAGAGGTCTCAGCCTGGAGCCCAGTGAG CGCAGACATTAGAGCCGGGGCCGGCAGGTTCAGAGGTC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	4/5			chr8	TogoVar
ERICH1_chr8_659200_736224	671352	G G	GAGACCTC others(457): Show GAGACCTCTGAACCTGCCGGCCCCGGCTCTAATGTCTGCGCTCACTGGGC TCCAGGCTGAGACCTCTGAACCTGCCGGCCCCGGCTCTAATGTCTGCGCT CACTGGGCTCCAGGCTGAGACCTCTGAACCTGCCGGCCCCGGCTCTAATG TCTGTGCTCACTGGTCCCCAGGCTCCGACCTCTGAACGTGCCAGCCCCGG TTCTAATGTCTGTGCTCACTGGGCTCCAGGCTCCGACCTCTGAACCTGCC GGCCCTGGCTGTAATGTCTGTGCCCACTGGTCCCCAGGCTCTGACCTCTG AACCCGCTGGCCCCTGCTCCGACCACTGAGCGCGCTGGTCCCCAGGCTCC GACCTCTGAACCTGCCGGCCCCGGCTCTAATGTCTGCGCTCACTGGGCTC CAGGCTGAGACCTCTGAACCTGCCGGCCCCGGCTCTAATGTCTGCGCTCA CTGGGCTCCAGGCTC	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	378	0.0027	464	c.106 others(483): Show c.1063+1936_1063+1937insGAGCCTGGAGCCCAGTGAGCGCAGAC ATTAGAGCCGGGGCCGGCAGGTTCAGAGGTCTCAGCCTGGAGCCCAGTGA GCGCAGACATTAGAGCCGGGGCCGGCAGGTTCAGAGGTCGGAGCCTGGGG ACCAGCGCGCTCAGTGGTCGGAGCAGGGGCCAGCGGGTTCAGAGGTCAGA GCCTGGGGACCAGTGGGCACAGACATTACAGCCAGGGCCGGCAGGTTCAG AGGTCGGAGCCTGGAGCCCAGTGAGCACAGACATTAGAACCGGGGCTGGC ACGTTCAGAGGTCGGAGCCTGGGGACCAGTGAGCACAGACATTAGAGCCG GGGCCGGCAGGTTCAGAGGTCTCAGCCTGGAGCCCAGTGAGCGCAGACAT TAGAGCCGGGGCCGGCAGGTTCAGAGGTCTCAGCCTGGAGCCCAGTGAGC GCAGACATTAGAGCCGGGGCCGGCAGGTTCAGAGGTCT	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	4/5			chr8	TogoVar
ERICH1_chr8_659200_736224	671396	C C	CTGGGCTC others(457): Show CTGGGCTCCAGGCTGAGACCTCTGAACCTGCCGGCCCCGGCTCTAATGTC TGCGCTCACTGGGCTCCAGGCTGAGACCTCTGAACCTGCCGGCCCCGGCT CTAATGTCTGTGCTCACTGGTCCCCAGGCTCCGACCTCTGAACGTGCCAG CCCCGGTTCTAATGTCTGTGCTCACTGGGCTCCAGGCTCCGACCTCTGAA CCTGCCGGCCCTGGCTGTAATGTCTGTGCCCACTGGTCCCCAGGCTCTGA CCTCTGAACCCGCTGGCCCCTGCTCCGACCACTGAGCGCGCTGGTCCCCA GGCTCCGACCTCTGAACCTGCCGGCCCCGGCTCTAATGTCTGCGCTCACT GGGCTCCAGGCTGAGACCTCTGAACCTGCCGGCCCCGGCTCTAATGTCTG CGCTCACTGGGCTCCAGGCTGAGACCTCTGAACCTGCCGGCCCCGGCTCT AATGTCTGCGCTCAT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	378	0.0027	464	c.106 others(483): Show c.1063+1892_1063+1893insATGAGCGCAGACATTAGAGCCGGGGC CGGCAGGTTCAGAGGTCTCAGCCTGGAGCCCAGTGAGCGCAGACATTAGA GCCGGGGCCGGCAGGTTCAGAGGTCTCAGCCTGGAGCCCAGTGAGCGCAG ACATTAGAGCCGGGGCCGGCAGGTTCAGAGGTCGGAGCCTGGGGACCAGC GCGCTCAGTGGTCGGAGCAGGGGCCAGCGGGTTCAGAGGTCAGAGCCTGG GGACCAGTGGGCACAGACATTACAGCCAGGGCCGGCAGGTTCAGAGGTCG GAGCCTGGAGCCCAGTGAGCACAGACATTAGAACCGGGGCTGGCACGTTC AGAGGTCGGAGCCTGGGGACCAGTGAGCACAGACATTAGAGCCGGGGCCG GCAGGTTCAGAGGTCTCAGCCTGGAGCCCAGTGAGCGCAGACATTAGAGC CGGGGCCGGCAGGTTCAGAGGTCTCAGCCTGGAGCCCA	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	4/5			chr8	TogoVar
GADD45B_chr19_2471127_2483257	2480930	A A	ACCTGTAG others(457): Show ACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAAC CCAGCAGAGATACTGCCACTGCGCTCTGTCTCAAAAAAAAAAAAAGAAAA AAAATTAAAAAAGAAAAACAACAAAAAAGAAGCAGGGTCATGCTCTGTTG CCCAGGCTGGAGTGCAGTGGCATGACCGTGGCTCACTGCAGCCTCGACCT CCTGGGCTCAAGCAATCCTCCAGCCTCAGCCTCCTGAGTAGCTGGGACTA AAGGTGCACACCACCATGCCTAGCTATTTGTTACTTTTTTTTGTAGAAAT GGGGTCTCACTGGCTGGGCGCGGTGGCTCACACAGGTAATCTCAGCACTT TGGGAGGCCGAGACAGGCGGATCACGAGGTCAGGAGATCGAGACCATCCT GGCTAACACGGTGAAACCCCATCTCTACTAAAAATACGAAAATTAGCTGG GTGTGGTGGTGGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01167.hp1 HG01516.hp2 others(1): Show HG01123.hp2 HG01167.hp1 HG01516.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0003g0001 others(1): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0003g0001 a0001c0001t0004g0001	4	460	0.0087	464	c.33 others(475): Show c.3329_*3330insCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAG GAGAATTGCTTGAACCCAGCAGAGATACTGCCACTGCGCTCTGTCTCAAA AAAAAAAAAAGAAAAAAAATTAAAAAAGAAAAACAACAAAAAAGAAGCAG GGTCATGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGACCGTGGCTCA CTGCAGCCTCGACCTCCTGGGCTCAAGCAATCCTCCAGCCTCAGCCTCCT GAGTAGCTGGGACTAAAGGTGCACACCACCATGCCTAGCTATTTGTTACT TTTTTTTGTAGAAATGGGGTCTCACTGGCTGGGCGCGGTGGCTCACACAG GTAATCTCAGCACTTTGGGAGGCCGAGACAGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAAT ACGAAAATTAGCTGGGTGTGGTGGTGGGCG	GADD45B	ENSG00000099860.9	transcript	ENST00000215631.9	protein_coding		2674		chr19	TogoVar
GADD45B_chr19_2471127_2483257	2480930	A A	ACCTGTAG others(457): Show ACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAAC CCAGCAGAGATACTGCCACTGCGGTCTGTCTCAAAAAAAAAAAAAAGAAA AAAATTAAAAAAGAAAAACAACAAAAAAGAAGCAGGGTCATGCTCTGTTG CCCAGGCTGGAGTGCAGTGGCATGACCGTGGCTCACTGCAGCCTCGACCT CCTGGGCTCAAGCAATCCTCCAGCCTCAGCCTCCTGAGTAGCTGGGACTA AAGGTGCACACCACCATGCCTAGCTATTTGTTACTTTTTTTTGTAGAAAT GGGGTCTCACTGGCTGGGCGCGGTGGCTCACACAGGTAATCTCAGCACTT TGGGAGGCCGAGACAGGCGGATCACGAGGTCAGGAGATCGAGACCATCCT GGCTAACACGGTGAAACCCCATCTCTACTAAAAATACGAAAATTAGCTGG GTGTGGTGGTGGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	460	0.0022	464	c.33 others(475): Show c.3329_*3330insCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAG GAGAATTGCTTGAACCCAGCAGAGATACTGCCACTGCGGTCTGTCTCAAA AAAAAAAAAAAGAAAAAAATTAAAAAAGAAAAACAACAAAAAAGAAGCAG GGTCATGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGACCGTGGCTCA CTGCAGCCTCGACCTCCTGGGCTCAAGCAATCCTCCAGCCTCAGCCTCCT GAGTAGCTGGGACTAAAGGTGCACACCACCATGCCTAGCTATTTGTTACT TTTTTTTGTAGAAATGGGGTCTCACTGGCTGGGCGCGGTGGCTCACACAG GTAATCTCAGCACTTTGGGAGGCCGAGACAGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAAT ACGAAAATTAGCTGGGTGTGGTGGTGGGCG	GADD45B	ENSG00000099860.9	transcript	ENST00000215631.9	protein_coding		2674		chr19	TogoVar

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