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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ADGRA1_chr10_133082924_133136675	133111515	A A	ACACCTCC others(413): Show ACACCTCCCTCCTAATGCCTCCAGACCACCTGCCCACCACAGACACCTCC CTCCTAATGCCTCCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAAT CCCTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATGCCTCCAG ACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACCACCTG CCCACCACAGGCACCTCCCTCCTAATGCCTCCAGACCACCTGCCCACCAC GGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCT CCCTCCTAATGCCTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTA ATCCCACCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCC AGACCACCTGCCCACCACGGG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0043 a0001c0003t0043	a0001c0003t0043g0027 a0001c0003t0043g0027	1	215	0.0047	420	c.401 others(437): Show c.401+8688_401+8689insGCCTCCAGACCACCTGCCCACCACAGAC ACCTCCCTCCTAATGCCTCCAGACCACCTGCCCACCACAGGCACCTCCCT CCTAATCCCTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATGC CTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGAC CACCTGCCCACCACAGGCACCTCCCTCCTAATGCCTCCAGACCACCTGCC CACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAG GCACCTCCCTCCTAATGCCTCCAGACCACCTGCCCACCACAGACACCTCC CTCCTAATCCCACCAGACCACCTGCCCACCACAGACACCTCCCTCCTAAT CCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAAT		ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111744	A A	ACCAGACC others(413): Show ACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACC ACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCC ACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGG CACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCC TCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATC CCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGA CCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGC CCACCACAGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACG GGCACCTCCCTCCTAATGCCT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0064 a0001c0002t0064	a0001c0002t0064g0160 a0001c0002t0064g0160	1	283	0.0035	420	c.401 others(437): Show c.401+8908_401+8909insCACCTGCCCACCACGGGCACCTCCCTCC TAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCT CCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCA CCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCA CCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGC ACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCACCTCCCT CCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCC CACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCTCCAGAC CACCTGCCCACCACGGGCACCTCCCTCCTAATGCCTCCAGAC		ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111867	C C	CCCTCCAG others(413): Show CCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAG ACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACAACCTG CCCACCACAGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCAC GGACACCTCCCTCCTAATGCCTCCAGACCACCTGCCCGCCGTGAGCACCT CCCTCCTAATCCCACCAGACCACCTGCCCGCCACAGACACCTCCCTCCTA ATCCCACCAGACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCCCC AGACAACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACAACC TGCCCACCACGGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACC ACAGACACCTCCCTCCTAATG	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0310 a0001c0001t0049g0310	1	329	0.0030	420	c.401 others(437): Show c.401+9048_401+9049insGGGCACCTCCCTCCTAATCCCACCAGAC AACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACAACCTGCC CACCACAGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGG ACACCTCCCTCCTAATGCCTCCAGACCACCTGCCCGCCGTGAGCACCTCC CTCCTAATCCCACCAGACCACCTGCCCGCCACAGACACCTCCCTCCTAAT CCCACCAGACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCCCCAG ACAACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACAACCTG CCCACCACGGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCAC AGACACCTCCCTCCTAATGCCTCCAGACCACCTGCCCACCAC		ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111919	C C	CACCTGCC others(413): Show CACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACAACCTGCC CACCACGGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGG GCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGACACCTCC CTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAAT CCCTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAG ACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACAACCTG CCCACCACGGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCCCCCG GGAACCATCCCTCCTAATCCCACCAGACCACCTGCCCGCCACGGGCACCT CCCTCCTAATCCCACCAGACA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0153 a0001c0002t0001g0153	1	298	0.0034	420	c.401 others(437): Show c.401+9085_401+9086insACCACGGGCACCTCCCTCCTAATCCCAC CAGACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACAAC CTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCAC CACAGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCA CCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGACACCTCCCTC CTAATCCCACCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCC ACCAGACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACA ACCTGCCCCCCCGGGAACCATCCCTCCTAATCCCACCAGACCACCTGCCC GCCACGGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCC		ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133112019	A A	ACACCTCC others(413): Show ACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGACACCTCC CTCCTAATCCCACCAGACAACCTGCCCGCCACAGACACCTCCCTCCTAAT CCCACCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAG ACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACAACCTG CCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCAC GGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGACACCT CCCTCCTAATCCCACCAGACAACCTGCCCACCACAGGCACCTCCCTCCTA ATCCCTCCAGACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCACC AGACCACCTGCCCACCATGGG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0011 a0001c0010t0011	a0001c0010t0011g0050 a0001c0010t0011g0050	1	216	0.0046	420	c.401 others(437): Show c.401+9192_401+9193insCCCACCAGACAACCTGCCCACCACAGAC ACCTCCCTCCTAATCCCACCAGACAACCTGCCCGCCACAGACACCTCCCT CCTAATCCCACCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCC CACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGAC AACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCC CACCACGGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGG ACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGGCACCTCC CTCCTAATCCCTCCAGACAACCTGCCCACCACGGACACCTCCCTCCTAAT CCCACCAGACCACCTGCCCACCATGGGCACCTCCCTCCTAAT		ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133112019	A A	ACACCTCC others(413): Show ACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGACACCTCC CTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAAT CCCACCAGACAACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAG ACAACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACCACCTG CCCACCACAGACACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCAC AGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGGCACCT CCCTCCTAATCCCACCAGACAACCTGCCCACCACAGACACCTCCCTCCTA ATCCCTCCAGACAACCTGCCCACCACAGACACCTCCCTCCTAATCCCACC AGACCACCTGCCCGCCGTGAG	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0334 a0001c0001t0018g0334	1	216	0.0046	420	c.401 others(437): Show c.401+9192_401+9193insCCCACCAGACAACCTGCCCACCACAGAC ACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCT CCTAATCCCACCAGACAACCTGCCCACCACAGACACCTCCCTCCTAATCC CTCCAGACAACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGAC CACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACCACCTGCC CACCACAGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGG GCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGACACCTCC CTCCTAATCCCTCCAGACAACCTGCCCACCACAGACACCTCCCTCCTAAT CCCACCAGACCACCTGCCCGCCGTGAGCACCTCCCTCCTAAT		ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRG2_chrX_18984307_19127468	19074544	T T	TTTCTTCT others(413): Show TTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTTCTCCTTCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTTCTTCTCCTTCTTCCTTCTTCTTCCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCC	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	123	0.0081	420	c.-1- others(435): Show c.-1-5710_-1-5709insGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG GAAGAAGAAGGAAGAAGGAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAG AAGGAGAAGGAGAAGGAGAAGGAGAAGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAAGGAGAAGAAGAAGAAGAAGAA		ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28						chrX	TogoVar
ADGRG2_chrX_18984307_19127468	19074563	T T	TTCTCCTT others(413): Show TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTC TCCTTCTTCCTTCTTCTTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	185	0.0054	420	c.-1- others(435): Show c.-1-5729_-1-5728insGAAGAAGAAGAAGAAGAAGAGAGGAGGAGG AGGAGGAGGAGGAGGAGGAGGAGGAGGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGGAAGAAGAAGGAAGAAGGAGAAGAAGAA GGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAGGAGGA GGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGA GGAGGAGGAGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAG GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA		ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28						chrX	TogoVar
ADPRHL1_chr13_113394611_113458488	113418980	T T	TTCCCTCC others(413): Show TTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCC CTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCTTCACTCCCTCCCTCC CTTCCTTCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTC CTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTC TTTTCCTTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTTCCTTT CTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCT CCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCT TCCTTCTTTTCCTTCCCTCCC	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0027 a0027	a0027c0023 a0027c0023	a0027c0023t0030 a0027c0023t0030	a0027c0023t0030g0137 a0027c0023t0030g0137	1	228	0.0044	420	c.106 others(439): Show c.1061+3845_1061+3846insGGGAGGGAAGGAAAAGAAGGAAGGGA AGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGA GGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGG AAGGAAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGG AAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGAAGG GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGG GAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGAAGGAAGGGAGG GAGGGAGTGAAGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAA GAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA		ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7						chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113419038	C C	CCCCTTCC others(413): Show CCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTT CCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCC CCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCTTCCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCTTC CCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCCTTCCTTCTTTTCCTTCC CTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTTCTTCCCCTTCCCCTCCCT TCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC TTCCTTTCTTCCCCTTCCCCT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0027 a0002c0003t0008g0027	1	206	0.0049	420	c.106 others(439): Show c.1061+3787_1061+3788insAGGGGAAGGGGAAGAAAGGAAGGGAG GGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGA GGGGAAGGGGAAGAAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAG GAAAAGAAGGAAGGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGG GAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAAGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGG GGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAAGGA AAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGGAGGGAGG GAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGG		ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7						chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113419038	C C	CCCCTTCC others(413): Show CCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTTC CTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCT CCCTCCCTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTC CTTTCTTCCCCTTCCCCTCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTC CCTCCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTTCCT TTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCTTCACTCC CTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCT TCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC TTCCTTTCTTCCCCTTCCCCT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0089 a0002c0003t0089	a0002c0003t0089g0075 a0002c0003t0089g0075	1	206	0.0049	420	c.106 others(439): Show c.1061+3787_1061+3788insAGGGGAAGGGGAAGAAAGGAAGGGAG GGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGA GGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGT GAAGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAA GGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGGAGGGAGGG AGGGAAGGAAAAGAAGGAAGGGAAGGGAGGGGAAGGGGAAGAAAGGAAGG AAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAGGGAGGGAGGGA AGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGG GAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGG		ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7						chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113435614	G G	GTAGGGTG others(413): Show GTAGGGTGAACATAGGTGTACCCCGGGACCTGGCACCCAGGTGCAGGGTG AATACAGGTGTACCCCGGGACCCAGCACCCACATGTAGAGTGAACATAGG TGTACCCCGGGACCCAGCACCCAGGCACCGAGTGAACATAGGTGTACCCT GGGACCCAGCACCCAGGTGTAGAGTGAACATAGGTGTACCCCGGGACCCA GCATCCACACGTAGAGTGAACACAGGTGTACCCCGGGACCCGGCACCCAG GCGCAGGGTGAACATAGGTGTACCCCGGGACCCAGCATCCACACGTAGAG TGAACACAGGTGTACCCCGGGACCCGGCACCCAGGCGCAGGGTGAACATA GGTGTACCCCGGGACCCAGCATCCACATGTAGAGTGAACACAGGTGTACC CTGGGACCCGGCACCCAGGTT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0093 a0001c0004t0004g0093	1	260	0.0038	420	c.380 others(437): Show c.380-1748_380-1747insAACCTGGGTGCCGGGTCCCAGGGTACAC CTGTGTTCACTCTACATGTGGATGCTGGGTCCCGGGGTACACCTATGTTC ACCCTGCGCCTGGGTGCCGGGTCCCGGGGTACACCTGTGTTCACTCTACG TGTGGATGCTGGGTCCCGGGGTACACCTATGTTCACCCTGCGCCTGGGTG CCGGGTCCCGGGGTACACCTGTGTTCACTCTACGTGTGGATGCTGGGTCC CGGGGTACACCTATGTTCACTCTACACCTGGGTGCTGGGTCCCAGGGTAC ACCTATGTTCACTCGGTGCCTGGGTGCTGGGTCCCGGGGTACACCTATGT TCACTCTACATGTGGGTGCTGGGTCCCGGGGTACACCTGTATTCACCCTG CACCTGGGTGCCAGGTCCCGGGGTACACCTATGTTCACCCTA		ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	2/7						chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113436099	C C	CGGGACCC others(413): Show CGGGACCCGGCACCCAGGCGCAGGGTGAACATAGGTGTACCCCGGGACCC AGCATCCACACGTAGAGTGAACACAGGTGTACCCCGGGACCCGGCACCCA GGTGTAGAGTGAACATAGGTGTACCCCGGGACCCGGCACCCAGGTGTAGA GTGAACATAGGTGTACCCCGGGACCCGGCACCCAGGTGTAGAGTGAACAT AGGTGTACCCCGGGACCCGGCACCCAGGTGTAGAGTGAACACAGGTGTAC CCCGGGACCCAGCACCCAGGTGTAGGGTGAACATAGGTGTACCCCGGGAC CCGGCACCCAGGTGCAGGGTGAATACAGGTGTACCCCGGGACCCAGCACC CACATGTAGAGTGAACATAGGTGTACCCCGGGACCCAGCACCCAGGCACA GAGTGAACATAGGTGTACCCT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02135.hp1 HG02074.hp1 HG02135.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0076 a0001c0001t0001 a0002c0002t0076	a0001c0001t0001g0169 a0002c0002t0076g0020 a0001c0001t0001g0169 a0002c0002t0076g0020	2	260	0.0077	420	c.380 others(437): Show c.380-2233_380-2232insAGGGTACACCTATGTTCACTCTGTGCCT GGGTGCTGGGTCCCGGGGTACACCTATGTTCACTCTACATGTGGGTGCTG GGTCCCGGGGTACACCTGTATTCACCCTGCACCTGGGTGCCGGGTCCCGG GGTACACCTATGTTCACCCTACACCTGGGTGCTGGGTCCCGGGGTACACC TGTGTTCACTCTACACCTGGGTGCCGGGTCCCGGGGTACACCTATGTTCA CTCTACACCTGGGTGCCGGGTCCCGGGGTACACCTATGTTCACTCTACAC CTGGGTGCCGGGTCCCGGGGTACACCTATGTTCACTCTACACCTGGGTGC CGGGTCCCGGGGTACACCTGTGTTCACTCTACGTGTGGATGCTGGGTCCC GGGGTACACCTATGTTCACCCTGCGCCTGGGTGCCGGGTCCC		ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	2/7						chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113436718	T T	TAGGTGTA others(413): Show TAGGTGTACCCCGGAACCCAGCACCCAGGCACAGAGTGAACATAGGTGTA CCCTGGGACCCAGCACCCAGGTGTAGAGTGAACATAGGTGTACCCCGGGA CCCAGCATCCACACGTAGAGTGAACACAGGTGTACCCCGGGACCCGGCAC CCAGGCGCAGGGTGAACATAGGTGTACCCCGGGACCCAGCATCCACACGT AGAGTGAACACAGGTGTACCCCGGGACCCGGCACCCAGGCGCAGGGTGAA CATAGGTGTACCCCGGGACCCAGCATCCACACGTAGAGTGAACACAGGTG TACCCCGGGACCCGGCACCCAGGTGTAGAGTGAACATAGGTGTACCCCAG GACCCGGCACCCACGCATAGAGTGAACGTAGGTGTACCCTGTGACCCAGC ACCCACACGTAGAGTGAACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00673.hp2 others(54): Show HG00099.hp2 HG00280.hp2 HG00673.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01169.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01515.hp2 HG01516.hp2 HG01891.hp1 HG01934.hp2 HG01952.hp2 HG02055.hp2 HG02109.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02615.hp2 HG02738.hp1 HG02922.hp2 HG02965.hp1 HG03130.hp2 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG03831.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18952.hp2 NA18963.hp1 NA18966.hp2 NA19057.hp1 NA19066.hp2 NA19074.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0007 a0011 a0017 a0022	a0001c0001 a0001c0004 a0002c0002 others(14): Show a0001c0001 a0001c0004 a0002c0002 a0002c0003 a0002c0005 a0002c0007 a0002c0008 a0002c0011 a0002c0035 a0003c0012 a0003c0015 a0004c0009 a0005c0010 a0007c0016 a0011c0026 a0017c0028 a0022c0020	a0001c0001t0001 a0001c0004t0004 a0002c0002t0002 others(27): Show a0001c0001t0001 a0001c0004t0004 a0002c0002t0002 a0002c0002t0003 a0002c0002t0069 a0002c0002t0074 a0002c0002t0075 a0002c0002t0080 a0002c0003t0008 a0002c0003t0022 a0002c0003t0089 a0002c0005t0093 a0002c0005t0095 a0002c0005t0099 a0002c0007t0012 a0002c0007t0094 a0002c0007t0100 a0002c0008t0029 a0002c0011t0003 a0002c0035t0081 a0003c0012t0033 a0003c0012t0034 a0003c0012t0037 a0003c0015t0014 a0004c0009t0011 a0005c0010t0010 a0007c0016t0002 a0011c0026t0002 a0017c0028t0066 a0022c0020t0067	a0001c0001t0001g0017 a0001c0001t0001g0163 a0001c0001t0001g0166 others(54): Show a0001c0001t0001g0017 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0231 a0001c0004t0004g0178 a0002c0002t0002g0092 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0111 a0002c0002t0002g0123 a0002c0002t0002g0126 a0002c0002t0002g0162 a0002c0002t0002g0168 a0002c0002t0002g0187 a0002c0002t0002g0194 a0002c0002t0002g0205 a0002c0002t0002g0218 a0002c0002t0002g0224 a0002c0002t0003g0023 a0002c0002t0003g0084 a0002c0002t0003g0095 a0002c0002t0003g0138 a0002c0002t0003g0179 a0002c0002t0003g0238 a0002c0002t0069g0132 a0002c0002t0074g0232 a0002c0002t0075g0146 a0002c0002t0080g0165 a0002c0003t0008g0236 a0002c0003t0022g0191 a0002c0003t0022g0192 a0002c0003t0089g0075 a0002c0005t0093g0080 a0002c0005t0095g0254 a0002c0005t0099g0190 a0002c0007t0012g0010 a0002c0007t0012g0011 a0002c0007t0094g0008 a0002c0007t0100g0013 a0002c0008t0029g0067 a0002c0011t0003g0144 a0002c0011t0003g0145 a0002c0035t0081g0164 a0003c0012t0033g0078 a0003c0012t0034g0015 a0003c0012t0037g0069 a0003c0015t0014g0100 a0004c0009t0011g0116 a0004c0009t0011g0121 a0004c0009t0011g0171 a0005c0010t0010g0140 a0005c0010t0010g0141 a0007c0016t0002g0227 a0011c0026t0002g0245 a0017c0028t0066g0018 a0022c0020t0067g0014	57	254	0.2244	420	c.380 others(437): Show c.380-2852_380-2851insGTGTTCACTCTACGTGTGGGTGCTGGGT CACAGGGTACACCTACGTTCACTCTATGCGTGGGTGCCGGGTCCTGGGGT ACACCTATGTTCACTCTACACCTGGGTGCCGGGTCCCGGGGTACACCTGT GTTCACTCTACGTGTGGATGCTGGGTCCCGGGGTACACCTATGTTCACCC TGCGCCTGGGTGCCGGGTCCCGGGGTACACCTGTGTTCACTCTACGTGTG GATGCTGGGTCCCGGGGTACACCTATGTTCACCCTGCGCCTGGGTGCCGG GTCCCGGGGTACACCTGTGTTCACTCTACGTGTGGATGCTGGGTCCCGGG GTACACCTATGTTCACTCTACACCTGGGTGCTGGGTCCCAGGGTACACCT ATGTTCACTCTGTGCCTGGGTGCTGGGTTCCGGGGTACACCT		ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	2/7						chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113436718	T T	TAGGTGTA others(413): Show TAGGTGTACCCCGGAACCCAGCACCCAGGCACAGAGTGAACATAGGTGTA CCCTGGGACCCAGCACCCAGGTGTAGAGTGAACATAGGTGTACCCCGGGA CCCAGCATCCACACGTAGAGTGAACACAGGTGTACCCCGGGACCCGGCAC CCAGGCGCAGGGTGAACATAGGTGTACCCCGGGACCCAGCATCCACACGT AGAGTGAACACAGGTGTACCCCGGGACCCGGCACCCAGGCGCAGGGTGAA CATAGGTGTACCCCGGGACCCAGCATCCACACGTAGAGTGAACACAGGTG TACCCCGGGACCCGGCACCCAGGTGTAGAGTGAACATAGGTGTACCCCAG GACCCGGCACCCACGCATAGAGTGAACGTAGGTGTACCCTGTGACCCAGC ACCCACATGTAGAGTGAACAC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0028 a0002c0008t0028	a0002c0008t0028g0196 a0002c0008t0028g0196	1	198	0.0051	420	c.380 others(437): Show c.380-2852_380-2851insGTGTTCACTCTACATGTGGGTGCTGGGT CACAGGGTACACCTACGTTCACTCTATGCGTGGGTGCCGGGTCCTGGGGT ACACCTATGTTCACTCTACACCTGGGTGCCGGGTCCCGGGGTACACCTGT GTTCACTCTACGTGTGGATGCTGGGTCCCGGGGTACACCTATGTTCACCC TGCGCCTGGGTGCCGGGTCCCGGGGTACACCTGTGTTCACTCTACGTGTG GATGCTGGGTCCCGGGGTACACCTATGTTCACCCTGCGCCTGGGTGCCGG GTCCCGGGGTACACCTGTGTTCACTCTACGTGTGGATGCTGGGTCCCGGG GTACACCTATGTTCACTCTACACCTGGGTGCTGGGTCCCAGGGTACACCT ATGTTCACTCTGTGCCTGGGTGCTGGGTTCCGGGGTACACCT		ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	2/7						chr13	TogoVar
AGMO_chr7_15195317_15567015	15529882	G G	GATATTCT others(413): Show GATATTCTATATACGTATTTCCATATAGATATTCTATATACGTATTTCCA TATAGATATTCTATATACGTATTTCCATATAGATATTCTATATACGTATT TCCATATAGATATTCTATATACGTATTTCCATATAGATATTCTATATACG TATTTCCATATAGATATTCTATATACGTATTTCCATATAGATATTCTATA TACGTATTTCCATATAGATATTCTATATACGTATTTCCATATAGATATTC TATATACGTATTTCCATATAGATATTCTATATACGTATTTCCATATAGAT ATTCTATATACGTATTTCCATATAGATATTCTATATACGTATTTCCATAT AGATATTCTATATACGTATTTCCATATATTCTATATACGTATTTCCATAT ATTCTATATACGTATTTCCAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0216 a0001c0001t0003g0216	1	224	0.0045	420	c.409 others(439): Show c.409+14889_409+14890insATGGAAATACGTATATAGAATATATG GAAATACGTATATAGAATATATGGAAATACGTATATAGAATATCTATATG GAAATACGTATATAGAATATCTATATGGAAATACGTATATAGAATATCTA TATGGAAATACGTATATAGAATATCTATATGGAAATACGTATATAGAATA TCTATATGGAAATACGTATATAGAATATCTATATGGAAATACGTATATAG AATATCTATATGGAAATACGTATATAGAATATCTATATGGAAATACGTAT ATAGAATATCTATATGGAAATACGTATATAGAATATCTATATGGAAATAC GTATATAGAATATCTATATGGAAATACGTATATAGAATATCTATATGGAA ATACGTATATAGAATATCTATATGGAAATACGTATATAGAATAT		AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12						chr7	TogoVar
ANKRD29_chr18_23593926_23667911	23615974	C C	CTATGTAT others(413): Show CTATGTATGTATGCATACTCTACACATACCGTATGTATGTATGCATACTC TACACATACCGTATGTATGTATGCATACTCTACACATACCGTATGTATGT ATGCATACTCTACACATACCGTATGTATGTATGCATACTCTACACATACC GTATGTATGTATGCATACTCTACACATACCGTATGTATGTATGCATACTC TACACATACCGTATGTATGTATGCATACTCTACACATACCGTATGTATGT ATGCATACTCTACACATACCGTATGTATGTATGCATACTCTACACATACC GTATGTATGTATGCATACTCTACACATACCGTATGTATGTATGCATACTC TACACATACCGTATGTATGTATGCATACTCTACACATACCGTATGTATGT ATGCATACTCTACACATACCG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03486.hp1 HG02280.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0022 a0001c0001t0009g0098 a0001c0001t0009g0022 a0001c0001t0009g0098	2	180	0.0111	420	c.723 others(437): Show c.723+1757_723+1758insCGGTATGTGTAGAGTATGCATACATACA TACGGTATGTGTAGAGTATGCATACATACATACGGTATGTGTAGAGTATG CATACATACATACGGTATGTGTAGAGTATGCATACATACATACGGTATGT GTAGAGTATGCATACATACATACGGTATGTGTAGAGTATGCATACATACA TACGGTATGTGTAGAGTATGCATACATACATACGGTATGTGTAGAGTATG CATACATACATACGGTATGTGTAGAGTATGCATACATACATACGGTATGT GTAGAGTATGCATACATACATACGGTATGTGTAGAGTATGCATACATACA TACGGTATGTGTAGAGTATGCATACATACATACGGTATGTGTAGAGTATG CATACATACATACGGTATGTGTAGAGTATGCATACATACATA		ANKRD29	ENSG00000154065.17	transcript	ENST00000592179.6	protein_coding	8/9						chr18	TogoVar
ARHGEF10_chr8_1818926_1963641	1824952	T T	TCCCCGCA others(413): Show TCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACCC CACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTTCAC CCGCACTCCACCTGTCCCCCCGCACTCCACCTGTCCCCCCGCACCCCACC TGTCCCCCCGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCA CCCCACCTGTCCCCTCGCACCCCACCTGCCCCCCCGCACCCCACCTGTCC CCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTTCACCCGCACCCCA CCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCTG CACCCCACCTGTTCACCTGCACCCCACCTGTCCCCCCGCACCCCACCTGT CCCCCCGCACCCCACCTGTCC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0198 a0001c0003t0001g0198	1	192	0.0052	420	c.-48 others(435): Show c.-48+997_-48+998insGCACCCCACCTGTCCCTCCGCACCCCACCT GTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGCCCCCCCGCAC CCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTTCA CCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCAC CTGTCCCCCTGCACCCCACCTGTTCACCTGCACCCCACCTGTCCCCCCGC ACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTC CCCTCGCACCCCACCTGTCCTCCCCACACCCCACCTGTTTACTCTGCACC CCAGCTGTCCCCCCACACCCCACCTGTTCACCCGCACTCCACCTGTCCCC CCGCACTCCACCTGTCCCCCCGCACCCCACCTGTCCCCCC		ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1825069	C C	CCCCGCAC others(413): Show CCCCGCACTCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCA CCTGTCCCTCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCG CACCCCACCTGCCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGT CCCCCCGCACCCCACCTGTTCACCCGCACCCCACCTGTCCCCCCGCACCC CACCTGTCCCCCCGCACCCCACCTGTCCCCCTGCACCCCACCTGTTCACC TGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCACCCCACCT GTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCAC CCCACCTGTCCTCCCCACACCCCACCTGTTTACTCTGCACCCCAGCTGTC CCCCCACACCCCACCTGTTCA	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18974.hp2 HG02135.hp1 NA18974.hp2	a0001 a0001	a0001c0016 a0001c0071 a0001c0016 a0001c0071	a0001c0016t0014 a0001c0071t0002 a0001c0016t0014 a0001c0071t0002	a0001c0016t0014g0166 a0001c0071t0002g0164 a0001c0016t0014g0166 a0001c0071t0002g0164	2	361	0.0055	420	c.-48 others(435): Show c.-48+997_-48+998insGCACCCCACCTGTCCCTCCGCACCCCACCT GTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGCCCCCCCGCAC CCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTTCA CCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCAC CTGTCCCCCTGCACCCCACCTGTTCACCTGCACCCCACCTGTCCCTCCGC ACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTC CCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACCC CACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTTCAC CCGCACTCCACCTGTCCCCCCGCACCCCACCTGTCCCCCC		ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1825116	C C	CCCACCTG others(413): Show CCCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCC CCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCAC CTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGC ACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTT CACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCACCCC ACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCCCCC GCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACCCCACCT GTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTTCACCCGCA CTCCACCTGTCCCCCCGCAAT	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0007 a0007	a0007c0148 a0007c0148	a0007c0148t0002 a0007c0148t0002	a0007c0148t0002g0003 a0007c0148t0002g0003	1	327	0.0031	420	c.-48 others(437): Show c.-48+1003_-48+1004insCCACCTGTTCACCTGCACCCCACCTGTC CCTCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCC ACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCC GCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTG TCCCCCCGCACCCCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCACC CCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCC TCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACC TGTCCTCCCCACACCCCACCTGTTTACTCTGCACCCCAGCTGTCCCCCCA CACCCCACCTGTTCACCCGCACTCCACCTGTCCCCCCGCAAT		ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28						chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1825135	C C	CCCACCTG others(413): Show CCCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCC CCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCAC CTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGC ACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTT CACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCACCCC ACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCCCCC GCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACCCCACCT GTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTTCACCCGCA CTCCACCTGTCCCCCCGCAAT	intron_variant intron_variant	MODIFIER	HG02148.hp2 NA18967.hp2 HG02148.hp2 NA18967.hp2	a0001 a0001	a0001c0006 a0001c0156 a0001c0006 a0001c0156	a0001c0006t0001 a0001c0156t0002 a0001c0006t0001 a0001c0156t0002	a0001c0006t0001g0009 a0001c0156t0002g0006 a0001c0006t0001g0009 a0001c0156t0002g0006	2	343	0.0058	420	c.-48 others(437): Show c.-48+1030_-48+1031insTCACCTGCACCCCACCTGTCCCTCCGCA CCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCC CCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCA CCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCG CACCCCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGT CCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCC CACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCC CCACACCCCACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCAC CTGTTCACCCGCACTCCACCTGTCCCCCCGCAATCCACCTGT		ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr8	TogoVar
ARMCX4_chrX_101480456_101500807	101494029	G G	GGGGCTGA others(413): Show GGGGCTGAGGCTGGGGCTGGGGTTGGGGCTGGGGCTGGGGCTGAGGCTGA GGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGA CTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCT GGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGG GACTGAGGCTGGGGCTGGGGCTGAGGTTGAGGCTGGGGCTGGGGCTGAGG TTGGGGCTGGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCT AGGGCTGAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGA GGCTCGGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGG CTGAGGCTGGGGCTGAGGCTC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00438.hp2 HG01346.hp1 HG01884.hp1 others(17): Show HG00438.hp2 HG01346.hp1 HG01884.hp1 HG01934.hp1 HG01993.hp2 HG02129.hp1 HG02145.hp1 HG02559.hp2 HG02647.hp1 HG02809.hp1 HG02970.hp2 HG03225.hp1 HG03239.hp2 HG03540.hp2 HG03704.hp1 HG03834.hp1 HG03927.hp2 NA18747.hp1 NA18975.hp1 NA19240.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0004 a0003c0003t0001g0010 a0003c0003t0001g0011 others(4): Show a0003c0003t0001g0004 a0003c0003t0001g0010 a0003c0003t0001g0011 a0003c0003t0001g0018 a0003c0003t0001g0019 a0003c0003t0001g0020 a0003c0003t0001g0021	20	22	0.9091	420	c.546 others(429): Show c.5461_5462insTTGGGGCTGGGGCTGGGGCTGAGGCTGAGGCTGGGG CTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGACTGAGGCT GGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGG GGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGACTGAGG CTGGGGCTGGGGCTGAGGTTGAGGCTGGGGCTGGGGCTGAGGTTGGGGCT GGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCTGA GGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCGGG CTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCT GGGGCTGAGGCTCGGGCTGAGGCTGGGGCTGGGG	p.Gly others(435): Show p.Gly1820_Ala1821insValGlyAlaGlyAlaGlyAlaGluAlaGlu AlaGlyAlaGluAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyTh rGluAlaGlyAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaG lyAlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGluAlaGlyAlaGly ThrGluAlaGlyAlaGlyAlaGluValGluAlaGlyAlaGlyAlaGluVa lGlyAlaGlyThrGluAlaGlyAlaArgAlaGlyAlaGluAlaGlyAlaA rgAlaGluAlaGluValGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlu AlaArgAlaGluAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaGlyAl aGluAlaGlyAlaGluAlaArgAlaGluAlaGlyAlaGly	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5973/7729	5462/6873	1821/2290		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494029	G G	GGGGCTGA others(413): Show GGGGCTGAGGCTGGGGCTGGGGTTGGGGCTGGGGTTGGGGCTGGGGCTGG GGCTGAGGCTGAGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGG CTGGAGCTGGGACTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCT GGGGCTGGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGG GGCTGGGACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGG TTGGGGCTGGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCT AGGGCTGAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGA GGCTCGGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGG CTGAGGCTGGGGCTGAGGCTC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01943.hp1 HG01943.hp1	a0022 a0022	a0022c0049 a0022c0049	a0022c0049t0001 a0022c0049t0001	a0022c0049t0001g0002 a0022c0049t0001g0002	1	3	0.3333	420	c.546 others(429): Show c.5461_5462insTTGGGGCTGGGGTTGGGGCTGGGGCTGGGGCTGAGG CTGAGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCT GGGACTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGG GGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGA CTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTTGGGGCT GGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCTGA GGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCGGG CTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCT GGGGCTGAGGCTCGGGCTGAGGCTGGGGCTGGGG	p.Gly others(435): Show p.Gly1820_Ala1821insValGlyAlaGlyValGlyAlaGlyAlaGly AlaGluAlaGluAlaGlyAlaGluAlaGlyAlaGlyAlaGlyAlaGluAl aGlyAlaGlyThrGluAlaGlyAlaGlyAlaGlyAlaGlyAlaGluAlaG lyAlaGlyAlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGluAlaGly AlaGlyThrGluAlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGluVa lGlyAlaGlyThrGluAlaGlyAlaArgAlaGlyAlaGluAlaGlyAlaA rgAlaGluAlaGluValGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlu AlaArgAlaGluAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaGlyAl aGluAlaGlyAlaGluAlaArgAlaGluAlaGlyAlaGly	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5973/7729	5462/6873	1821/2290		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASB5_chr4_176208673_176274222	176218280	T T	TATATATA others(413): Show TATATATATTTGTATGATATATATATTTGTATGATATATAAATATATATA TTTGTATGATATATAAATATACATGTATGATATATAAATATATATTTGTA TGATATATAAATATATATATATTTGTATGATATATAAATATATATATATT TGTATGATATATATATTTGTATGATATATAAATATATATTTGTATGACAT ATAAATATATATTTGTATGACATATAAATATATATATTTGTATGACATAT AAATATATATATTTGTATGACATATAAATATATATGTATGATATATAAAT ATATATTTGTATGATATATAAATATATATATTTGTATGATATATAAATAT ATATATTTGTATGATATATAAATATATATATTTGTATGATATATAAATAT ATATATTTGTATGATATATAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0259 a0001c0002t0001g0259	1	384	0.0026	420	c.671 others(437): Show c.671-1272_671-1271insTTATATATCATACAAATATATATATTTA TATATCATACAAATATATATATTTATATATCATACAAATATATATATTTA TATATCATACAAATATATATATTTATATATCATACAAATATATATTTATA TATCATACATATATATTTATATGTCATACAAATATATATATTTATATGTC ATACAAATATATATATTTATATGTCATACAAATATATATTTATATGTCAT ACAAATATATATTTATATATCATACAAATATATATATCATACAAATATAT ATATATTTATATATCATACAAATATATATATATTTATATATCATACAAAT ATATATTTATATATCATACATGTATATTTATATATCATACAAATATATAT ATTTATATATCATACAAATATATATATCATACAAATATATAT		ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6						chr4	TogoVar
ASMTL_chrX_1398139_1457909	1408166	C C	CCTCCAGC others(413): Show CCTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGA GGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGGCAAC ACTGCACTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGG CAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATG GCAACACTGCCCTCCAGCCAAATGCTGGTACTCCCACATACTCGGGAGGC TGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTA TGATGGCAACACTGCACTCCAGCCAAATGCTGGTACTCCCAAATACTCGG GAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTG AACTATGATGACAACACTGCA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0177 a0001c0010t0001g0177	1	180	0.0056	420	c.164 others(439): Show c.1645+4565_1645+4566insTGCAGTGTTGTCATCATAGTTCACTG CAGCCTTGACCTCCTGGGCTCAAGCGATCCTCCTGCCTCAGCCTCCCGAG TATTTGGGAGTACCAGCATTTGGCTGGAGTGCAGTGTTGCCATCATAGTT CACTGCAGCCTTGACCTCCTGGGCTCAAGCGATCCTCCTGCCTCAGCCTC CCGAGTATGTGGGAGTACCAGCATTTGGCTGGAGGGCAGTGTTGCCATCA TAGTTCACTGCAGCCTTGACCTCCTGGGCTCAAGCGATCCTCCTGCCTCA GCCTCCCGAGTATTTGGGAGTACCAGCATTTGGCTGGAGTGCAGTGTTGC CATCATAGTTCACTGCAGCCTTGACCTCCTGGGCTCAAGCGATCCTCCTG CCTCAGCCTCCCGAGTATTTGGGAGTACCAGCATTTGGCTGGAG		ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12						chrX	TogoVar
ATP10B_chr5_160558120_160857211	160653921	A A	AATATATG others(413): Show AATATATGTTGTATATACGTATATACATATATAAATATATGTTGTATATA CGTATATACATATATAAATATATGTTGTATATACGTATATACATATATAA ATATATGTTGTATATACGTATATACTATATATGTTGTATATACGTATATA CAACATAAATATATGTTGTATATACGTATATACAACATAAATATATGTTG TATATACGTATATACAACATAAATATATGTTGTATATACGTATATACAAC ATAAATATATGTTGTATATACGTATATACATATATAAATATATGTTGTAT ATACGTATATACATATATAAATATATGTTGTATATACGTATATACATATA TAAATATATGTTGTATATACGTATATACATATATAAATATATGTTGTATA TACGTATATACATATATAAAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0011 a0011	a0011c0031 a0011c0031	a0011c0031t0001 a0011c0031t0001	a0011c0031t0001g0150 a0011c0031t0001g0150	1	98	0.0102	420	c.676 others(437): Show c.676-4666_676-4665insATTTATATATGTATATACGTATATACAA CATATATTTATATATGTATATACGTATATACAACATATATTTATATATGT ATATACGTATATACAACATATATTTATATATGTATATACGTATATACAAC ATATATTTATATATGTATATACGTATATACAACATATATTTATGTTGTAT ATACGTATATACAACATATATTTATGTTGTATATACGTATATACAACATA TATTTATGTTGTATATACGTATATACAACATATATTTATGTTGTATATAC GTATATACAACATATATAGTATATACGTATATACAACATATATTTATATA TGTATATACGTATATACAACATATATTTATATATGTATATACGTATATAC AACATATATTTATATATGTATATACGTATATACAACATATAT		ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25						chr5	TogoVar
B3GNTL1_chr17_82937149_83056770	82971659	A A	ACAGGGGC others(413): Show ACAGGGGCCAGAAGGACCTGGTACTGACCACACCACACCACAGGGGCCAG AAGGACCTGGTACTGACCACACCACACTCATAGGGGCCAGAAGGACCCGG TACTGACCACACCACACCACAGGGGCCAGAAGGACCCGGTACTGACCACA CCACACCACAGGGGCCAGAAGGACCTGGTACTGACCACACCACACCACAG GGGCCAGAAGGACCTGGTACTGACCACACCACACCACAGGGGCTAGAAGG ACCTGGTGCCGACCACACCACACCATGGGCCAGAAGGACCTGGTGCCGAC CACACCACACCACAGGGGCTAGAAGGACCTGGTGCCGACACACCACACCA GGGGCCAGAAGGACCTGGTGCCGACCACACCACACCACGGGCCAGAAGGA CCTGGAGCCGACACACCACAC	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA19012.hp2 NA18967.hp1 NA19012.hp2	a0001 a0001	a0001c0007 a0001c0008 a0001c0007 a0001c0008	a0001c0007t0005 a0001c0008t0005 a0001c0007t0005 a0001c0008t0005	a0001c0007t0005g0232 a0001c0008t0005g0191 a0001c0007t0005g0232 a0001c0008t0005g0191	2	232	0.0086	420	c.460 others(437): Show c.460-5914_460-5913insGTGTGGTGTGTCGGCTCCAGGTCCTTCT GGCCCGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGGCCCCTGGTGTG GTGTGTCGGCACCAGGTCCTTCTAGCCCCTGTGGTGTGGTGTGGTCGGCA CCAGGTCCTTCTGGCCCATGGTGTGGTGTGGTCGGCACCAGGTCCTTCTA GCCCCTGTGGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGT GTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTC AGTACCGGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGTACCGGGTC CTTCTGGCCCCTATGAGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCC CTGTGGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTG		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82971659	A A	ACAGGGGC others(413): Show ACAGGGGCCAGAAGGACCTGGTACTGACCACACCACACCACAGGGGCCAG AAGGACCTGGTACTGACCACACCACACTCATAGGGGCCAGAAGGACCCGG TACTGACCACACCACACCACAGGGGCCAGAAGGACCCGGTACTGACCACA CCACACCACAGGGGCCAGAAGGACCTGGTACTGACCACACCACACCACAG GGGCCAGAAGGACCTGGTACTGACCACACCACACCACAGGGGCTAGAAGG ACCTGGTGCCGACCACACCACACCATGGGCCAGAAGGACCTGGTGCCGAC CACACCACACCACAGGGGCTAGAAGGACCTGGTGCCGACACACCACACCA GGGGCTAGAAGGACCTGGTGCCGACCACACCACACCACGGGCCAGAAGGA CCTGGAGCCGACACACCACAC	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA19070.hp1 NA18966.hp2 NA19070.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0033 a0001c0004t0001g0040 a0001c0004t0001g0033 a0001c0004t0001g0040	2	232	0.0086	420	c.460 others(437): Show c.460-5914_460-5913insGTGTGGTGTGTCGGCTCCAGGTCCTTCT GGCCCGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTAGCCCCTGGTGTG GTGTGTCGGCACCAGGTCCTTCTAGCCCCTGTGGTGTGGTGTGGTCGGCA CCAGGTCCTTCTGGCCCATGGTGTGGTGTGGTCGGCACCAGGTCCTTCTA GCCCCTGTGGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGT GTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTC AGTACCGGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGTACCGGGTC CTTCTGGCCCCTATGAGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCC CTGTGGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTG		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82971659	A A	ACAGGGGC others(413): Show ACAGGGGCCAGAAGGACCTGGTACTGACCACACCACACCACAGGGGCCAG AAGGACCTGGTACTGACCACACCACACTCATAGGGGCCAGAAGGACCCGG TACTGACCACACCACACCACAGGGGCCAGAAGGACCCGGTACTGACCACA CCACACCACAGGGGCTAGAAGGACCTGGTACTGACCACACCACACCACAG GGGCCAGAAGGACCTGGTACTGACCACACCACACCACAGGGGCTAGAAGG ACCTGGTGCCGACCACACCACACCATGGGCCAGAAGGACCTGGTGCCGAC CACACCACACCACAGGGGCTAGAAGGACCTGGTGCCGACACACCACACCA GGGGCTAGAAGGACCTGGTGCCGACCACACCACACCACGGGCCAGAAGGA CCTGGAGCCGACACACCACAC	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0003 a0002c0015t0003	a0002c0015t0003g0045 a0002c0015t0003g0045	1	231	0.0043	420	c.460 others(437): Show c.460-5914_460-5913insGTGTGGTGTGTCGGCTCCAGGTCCTTCT GGCCCGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTAGCCCCTGGTGTG GTGTGTCGGCACCAGGTCCTTCTAGCCCCTGTGGTGTGGTGTGGTCGGCA CCAGGTCCTTCTGGCCCATGGTGTGGTGTGGTCGGCACCAGGTCCTTCTA GCCCCTGTGGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGT GTGGTGTGGTCAGTACCAGGTCCTTCTAGCCCCTGTGGTGTGGTGTGGTC AGTACCGGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGTACCGGGTC CTTCTGGCCCCTATGAGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCC CTGTGGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTG		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82971954	G G	GCTGACCA others(413): Show GCTGACCACACCACACCACAGGGGCTAGAAGGACCTGGTACTGACCACAC CACACCATGGGCCAGAAGGACCTGGTGCCGACACACCACACCATGGGCCA GAAGGACCTGGTGCCGACCACACCACACCACAGGGGATAGAAGGACCTGG TACTGACCACACCACACCACGGGCCAGAAGGACCTGGTGCCGACACACCA CACCATGGGCCAGAAGGACCTGGTGCTGACCACACCACACTCATAGGGGC CAGAAGGACCCGGTACTGACCACACCACACCACAGGGGCCAGAAGGACCT GGTACTGACCACACCACACCACAGGGGCCAGAAGGACCTGGTGCCGACCA CACCACACCACAGGGGCCAGAAGGACCTGGTACTGACCACACCACACCAC AGGGGATAGAAGGACCCAGTA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0163 a0002c0005t0003g0163	1	258	0.0039	420	c.460 others(437): Show c.460-6209_460-6208insTACTGGGTCCTTCTATCCCCTGTGGTGT GGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCGG CACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGTACCAGGTCCT TCTGGCCCCTGTGGTGTGGTGTGGTCAGTACCGGGTCCTTCTGGCCCCTA TGAGTGTGGTGTGGTCAGCACCAGGTCCTTCTGGCCCATGGTGTGGTGTG TCGGCACCAGGTCCTTCTGGCCCGTGGTGTGGTGTGGTCAGTACCAGGTC CTTCTATCCCCTGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGGCCCA TGGTGTGGTGTGTCGGCACCAGGTCCTTCTGGCCCATGGTGTGGTGTGGT CAGTACCAGGTCCTTCTAGCCCCTGTGGTGTGGTGTGGTCAG		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
BFSP2_chr3_133395056_133480208	133425964	A A	AGGGGAGG others(413): Show AGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGGGGAGGGGATGGAGGGG GAGGGGAGGGGGATGGGAGGGGGAGGGGAGGGGATGGGAGGGGGAGGGGA GGGGATGGGAGGGGGAGGGGAGGGGATGGGAGGGGGAGGGGGAGGGGGAG GGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGG GGAGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGGGGGGAGG GGGAGGGGGAGGGGAGGGGAGAGGGAGGGGATGGGGAGGGGAGGGGGAGG GGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGGAGGG GGGAGGGGAGGGGGAGGGGAT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	254	0.0039	420	c.490 others(439): Show c.490-21348_490-21347insGGGGGAGGGGGAGGGGGAGGGGAGGG GGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGAGGGGAGGGGA GGGGAGGGGATGGAGGGGGAGGGGAGGGGGATGGGAGGGGGAGGGGAGGG GATGGGAGGGGGAGGGGAGGGGATGGGAGGGGGAGGGGAGGGGATGGGAG GGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAG GGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGAGG GGAGGGGGGGGGGGGAGGGGGAGGGGGAGGGGAGGGGAGAGGGAGGGGAT GGGGAGGGGAGGGGGAGGGGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGG GGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGGATGGGGA		BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr3	TogoVar
C10orf90_chr10_126419997_126675693	126672875	C C	CCCGAGAC others(413): Show CCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATC AGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTG GTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCA GGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCG AGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCT ACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCA TCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGAC TGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGAC CAGGACTGGTCATCAGCTACT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0027 a0005c0006t0001g0027	1	183	0.0055	420	c.-23 others(431): Show c.-2396_-2395insAGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGC TGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGG GGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGG TCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAG TCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGAT GACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTA GCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTC GGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCT GGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGG		C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding					2183		chr10	TogoVar
C17orf67_chr17_56786913_56838920	56792819	G G	GTGATGGT others(413): Show GTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGGTGGTGAT GGTGATGGTGGTGATGGTGGTGGTGATGGTGGTGATGGTGGTGGTGATGG TGATGATGGTGGTGATGGTGATGATGGTGGTGATGGTGATGGTGGTGGTG GTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGATGATGGT GATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGGTGATGGTGG TGATGGTGGTGGTGATGATGGTGGTGATGGTGATGATGGTGGTGATGGTG GTGGTGGTGATGGTGATGATGGTGGTGATGGTAGTGGTGGTGGTGATGGT GATGATGGTGGTGATGGTAGTGGTGATGGTGATGATGGTGGTGATGGTGA TGATGGTGGTGATGGTGGTGA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01243.hp2 HG02055.hp1 others(6): Show HG00639.hp1 HG01243.hp2 HG02055.hp1 HG02280.hp2 HG02622.hp2 HG02717.hp2 HG02976.hp1 HG03540.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0017 a0001c0001t0004g0190 a0001c0001t0004g0191 others(4): Show a0001c0001t0004g0017 a0001c0001t0004g0190 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0193 a0001c0001t0004g0194 a0001c0001t0004g0195	9	237	0.0380	420	c.21 others(435): Show c.21-468_*21-467insTCACCACCATCACCACCATCATCACCATCA CCACCATCATCACCATCACCACTACCATCACCACCATCATCACCATCACC ACCACCACTACCATCACCACCATCATCACCATCACCACCACCACCATCAC CACCATCATCACCATCACCACCATCATCACCACCACCATCACCACCATCA CCACCACCATCACCACCATCATCACCATCACCACCACCATCACCATCATC ACCATCACCACCACCACCACCATCACCACCATCACCACCACCACCACCAC CATCACCATCACCACCATCATCACCATCACCACCATCATCACCATCACCA CCACCATCACCACCATCACCACCACCATCACCACCATCACCATCACCACC ACCACCATCACCACCATCATCACCATCACCACCACCATCA		C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding	7/7						chr17	TogoVar
C17orf67_chr17_56786913_56838920	56792825	G G	GTGATGGT others(413): Show GTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGGTGGTGAT GGTGATGGTGGTGATGGTGGTGGTGATGGTGGTGATGGTGGTGGTGATGG TGATGATGGTGGTGATGGTGATGATGGTGGTGATGGTGATGGTGGTGGTG GTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGATGATGGT GATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGGTGATGGTGG TGATGGTGGTGGTGATGATGGTGGTGATGGTGATGATGGTGGTGATGGTG GTGGTGGTGATGGTGATGATGGTGGTGATGGTAGTGGTGGTGGTGATGGT GATGATGATGGTGGTGATGGTAGTGGTGATGGTGATGATGGTGATGATGG TGGTGATGGTGGTGATGGTGA	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	55	0.0182	420	c.21 others(435): Show c.21-474_*21-473insTCACCATCACCACCATCACCACCATCATCA CCATCATCACCATCACCACTACCATCACCACCATCATCATCACCATCACC ACCACCACTACCATCACCACCATCATCACCATCACCACCACCACCATCAC CACCATCATCACCATCACCACCATCATCACCACCACCATCACCACCATCA CCACCACCATCACCACCATCATCACCATCACCACCACCATCACCATCATC ACCATCACCACCACCACCACCATCACCACCATCACCACCACCACCACCAC CATCACCATCACCACCATCATCACCATCACCACCATCATCACCATCACCA CCACCATCACCACCATCACCACCACCATCACCACCATCACCATCACCACC ACCACCATCACCACCATCATCACCATCACCACCACCATCA		C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding	7/7						chr17	TogoVar
C1QTNF8_chr16_1083226_1101244	1092754	A A	AGCACACA others(413): Show AGCACACAGTCGGCACTCAACCAATCCCTGCACACAGTCGGCGCTCAACC AATCACAGCACACAGTCGGCGCTCAATCAATCCCTGCACACAGTCGGCGC TCAACCAATCCCTGCACACAGTCGGCGCTCAACAAATCACTGCACACAGT CGGCGCTCAACCAATCACAGCACACAGTCGGCGCTCAACCAATCCCTGCA CACAGTCGGCGCTCAACCAATCCGTGCACACAGTCAGCGCTCAACCAATC ACAGCACACAGTCGGCGCTCAACCAATCACTGCACACAGTCGGCGCTCAA CCAATCCGTGCACACAGTCGGCGCTCAACCAATCCCTGCACACAGTCGGC GCTCAACAAATCACAGCACACAGTCGGCGCTCAATCAATCCCTGCACACA GTCGGCGCTCAACGAATCCCT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	361	0.0028	420	c.4+ others(433): Show c.4+742_*4+743insAGGGATTCGTTGAGCGCCGACTGTGTGCAGGG ATTGATTGAGCGCCGACTGTGTGCTGTGATTTGTTGAGCGCCGACTGTGT GCAGGGATTGGTTGAGCGCCGACTGTGTGCACGGATTGGTTGAGCGCCGA CTGTGTGCAGTGATTGGTTGAGCGCCGACTGTGTGCTGTGATTGGTTGAG CGCTGACTGTGTGCACGGATTGGTTGAGCGCCGACTGTGTGCAGGGATTG GTTGAGCGCCGACTGTGTGCTGTGATTGGTTGAGCGCCGACTGTGTGCAG TGATTTGTTGAGCGCCGACTGTGTGCAGGGATTGGTTGAGCGCCGACTGT GTGCAGGGATTGATTGAGCGCCGACTGTGTGCTGTGATTGGTTGAGCGCC GACTGTGTGCAGGGATTGGTTGAGTGCCGACTGTGTGC		C1QTNF8	ENSG00000184471.10	transcript	ENST00000328449.6	protein_coding	4/4						chr16	TogoVar
C1orf159_chr1_1076823_1121089	1077811	G G	GGGGAGGC others(413): Show GGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTG AGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGG GGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGTGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGTGGCTG AGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGG GGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTG AGGCTATGGGGACTCCGTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	280	0.0036	420	c.50 others(431): Show c.5081_*5082insGGCACGGAGTCCCCATAGCCTCAGCCTCCCCCCA CGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAG CCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCC ATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCACCCCCCA CGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAG CCACCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCC ATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCCGGCA CGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAG CCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCC		C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding					4011		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1078349	G G	GCCGGGAG others(413): Show GCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATG GGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGAGGGGTGGC TGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGT GGCGGGAGGCTGAGGCTATGGGGACTCCGTGGCGGGAGGCTGAGGCTATG GGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGTGGC TGTGGCTATGGGGACTCCGTGCCGGGTGGCTGTGGCTATGGGGACTCCGT GCCGAGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATG GGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGC TGAGGCTATGGGGACTCCGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0055 a0001c0001t0003g0055	1	250	0.0040	420	c.45 others(431): Show c.4543_*4544insAACGGAGTCCCCATAGCCTCAGCCTCCCGGCACG GAGTCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCATAGACTCAGCC TCCCGGCACGGAGTCCCCATAGACTCAGCCTCTCGGCACGGAGTCCCCAT AGCCACAGCCACCCGGCACGGAGTCCCCATAGCCACAGCCACCCCGCACG GAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCC TCCCGCCACGGAGTCCCCATAGCCTCAGCCTCCCGCCACGGAGTCCCCAT AGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCACCCCTCACG GAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCC TCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGG		C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding					3473		chr1	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGCC others(413): Show ATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCA TGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCG GCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGG TCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGA CGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGT AGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCG AGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGG GTGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGG CGGGCGAGTAGACGGCATGTG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0232 a0002c0008t0002g0232	1	103	0.0097	420	c.300 others(437): Show c.300-9309_300-9308insCCGGGGGCGGGGTACGTGGGGGGCGGGC GAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCG GGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGG GCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGG GGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACG TGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGT ACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGG GGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGAGG CGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGG		CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34					INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1190953	T T	TTGTGTGG others(413): Show TTGTGTGGCCTCAGGCACACTCGGGGTTTCGGTGACCCAGCAGGCTGCCC TGGCTGTGTGGCCTCAGGCACACTCGGGGTCTCTGACCCAGCAGGCTGGC CTGGCTGTGTGGCCTCAGGCACACTCGGGGTCTCTCTGACTCAGCAGGCT GGCCTGGCTGTGTGGCCTCAGGCACACTCGGGGTCTCTCTGACTCAGCAG GCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGGGTCTCTCTTACTCAG CAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGGGTCTCTGACCCA GCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGGGTCTCTCTTAC TCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGGGTTTCGGT GACCCAGCAGGCTGGCCTGGC	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0090	1	328	0.0030	420	c.300 others(437): Show c.300-3641_300-3640insAGGCACACTCGGGGTTTCGGTGACCCAG CAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGGGTTTCGGTGACC CAGCAGGCTGCCCTGGCTGTGTGGCCTCAGGCACACTCGGGGTCTCTGAC CCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGGGTCTCTCT GACTCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGGGTCTC TCTGACTCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGGGT CTCTCTTACTCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGG GGTCTCTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCG GGGTCTCTCTTACTCAGCAGGCTGGCCTGGCTGTGTGGCCTC		CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34					INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1204952	G G	GGGGCCCC others(413): Show GGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCC AGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCAGATCAGT GCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCAGATCAGTGCCGGGGA GGGGTGGGAGCCGCGGGTGGGGGCCCCAGATCAGTGCCGGGGAGGGGTGG GAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCG GGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGC CCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATC AGTGCCGGGGAGGGGTGGGAGCCACGGGTGGGGACCCAGATCAGTGCCGG GGAGGGGTGGGAGCCGCGGGT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0016 a0002c0002t0001g0016	1	284	0.0035	420	c.245 others(437): Show c.2452-159_2452-158insCCCCAGATCAGTGCCGGGGAGGGGTGGG AGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGG GTGGGGGCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGC CCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCCAGATC AGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGG GGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGT GGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCG CGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCACGGGTGGG GACCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGG		CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34					INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1204952	G G	GGGGCCCC others(413): Show GGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCC AGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCAGATCAGT GCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCAGATCAGTGCCGGGGA GGGGTGGGAGCCGCGGGTGGGGGCCCCAGATCAGTGCCGGGGAGGGGTGG GAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCG GGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGC CCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATC AGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGACCCAGATCAGTGCCGG GGAGGGGTGGGAGCCGCGGGT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00738.hp1 HG01106.hp1 others(29): Show HG00280.hp2 HG00738.hp1 HG01106.hp1 HG01123.hp1 HG01175.hp1 HG01257.hp2 HG01346.hp2 HG01884.hp1 HG01978.hp2 HG02055.hp1 HG02056.hp1 HG02109.hp1 HG02145.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG03017.hp1 HG03209.hp2 HG03239.hp1 HG03688.hp1 HG03704.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 NA18944.hp1 NA19043.hp2 NA20805.hp1	a0002 a0003 a0005 others(10): Show a0002 a0003 a0005 a0009 a0015 a0030 a0036 a0037 a0039 a0042 a0054 a0067 a0078	a0002c0002 a0002c0008 a0002c0039 others(14): Show a0002c0002 a0002c0008 a0002c0039 a0002c0078 a0003c0028 a0005c0009 a0009c0016 a0009c0076 a0015c0017 a0030c0111 a0036c0072 a0037c0071 a0039c0074 a0042c0077 a0054c0042 a0067c0110 a0078c0080	a0002c0002t0001 a0002c0008t0001 a0002c0039t0003 others(15): Show a0002c0002t0001 a0002c0008t0001 a0002c0039t0003 a0002c0078t0005 a0003c0028t0004 a0005c0009t0007 a0005c0009t0008 a0009c0016t0013 a0009c0076t0006 a0015c0017t0003 a0030c0111t0029 a0036c0072t0001 a0037c0071t0001 a0039c0074t0001 a0042c0077t0001 a0054c0042t0003 a0067c0110t0001 a0078c0080t0001	a0002c0002t0001g0005 a0002c0002t0001g0007 a0002c0002t0001g0008 others(29): Show a0002c0002t0001g0005 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0041 a0002c0002t0001g0063 a0002c0002t0001g0093 a0002c0002t0001g0099 a0002c0002t0001g0239 a0002c0002t0001g0244 a0002c0002t0001g0324 a0002c0008t0001g0066 a0002c0039t0003g0228 a0002c0078t0005g0248 a0003c0028t0004g0027 a0003c0028t0004g0325 a0005c0009t0007g0105 a0005c0009t0007g0154 a0005c0009t0008g0251 a0009c0016t0013g0245 a0009c0076t0006g0064 a0015c0017t0003g0146 a0015c0017t0003g0147 a0015c0017t0003g0180 a0030c0111t0029g0255 a0036c0072t0001g0209 a0037c0071t0001g0292 a0039c0074t0001g0283 a0042c0077t0001g0179 a0054c0042t0003g0229 a0067c0110t0001g0006 a0078c0080t0001g0226	32	315	0.1016	420	c.245 others(437): Show c.2452-159_2452-158insCCCCAGATCAGTGCCGGGGAGGGGTGGG AGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGG GTGGGGGCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGC CCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCCAGATC AGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGG GGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGT GGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCG CGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGG GACCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGG		CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34					INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1204952	G G	GGGGCCCC others(413): Show GGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCC AGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCAGATCAGT GCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCAGATCAGTGCCGGGGA GGGGTGGGAGCCGCGGGTGGGGGCCCCAGATCAGTGCCGGGGAGGGGTGG GAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCG GGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGC CCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATC AGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGG GGAGGGGTGGGAGCCGCGGGT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01167.hp2 HG00735.hp1 HG01167.hp2	a0018 a0018	a0018c0029 a0018c0029	a0018c0029t0001 a0018c0029t0001	a0018c0029t0001g0170 a0018c0029t0001g0183 a0018c0029t0001g0170 a0018c0029t0001g0183	2	285	0.0070	420	c.245 others(437): Show c.2452-159_2452-158insCCCCAGATCAGTGCCGGGGAGGGGTGGG AGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGG GTGGGGGCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGC CCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCCAGATC AGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGG GGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGT GGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCG CGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGG GCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGG		CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34					INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA2D3_chr3_54117552_55079557	54736014	T T	TACATATA others(413): Show TACATATATATATACGTATATATATATACGTATATATACGTATATATATA TACATATATATACGTATATATATACATATATATACGTATATATATATACA TATATATATGTATATATATATACATATATATACATATATACGTATATATA TACATATATATACGTATATATATACATATATATACGTATATATATACATA TATATACGTATATATATACATATATATACGTATATATATACATATATACG TATATATATACATATATACGTATATATATACATATATATACGTATATATA TATACATATATATACGTATATATATATACATATATATACGTATATATATA TACATATATATACGTATATATATATACATATATATACGTATATATATACA TATATATACGTATATATATAC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	115	0.0087	420	c.116 others(441): Show c.1168-16584_1168-16583insCATATATATATACGTATATATATA TACGTATATATACGTATATATATATACATATATATACGTATATATATACA TATATATACGTATATATATATACATATATATATGTATATATATATACATA TATATACATATATACGTATATATATACATATATATACGTATATATATACA TATATATACGTATATATATACATATATATACGTATATATATACATATATA TACGTATATATATACATATATACGTATATATATACATATATACGTATATA TATACATATATATACGTATATATATATACATATATATACGTATATATATA TACATATATATACGTATATATATATACATATATATACGTATATATATATA CATATATATACGTATATATATACATATATATACGTATATATATACA		CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	11/37					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54736093	A A	ACATATAT others(413): Show ACATATATATACGTATATATATATACATATATATACGTATATATATATAC GTATATATATACATATATACGTATATATATATATATACGTATATATATGT ATATATATACGTATATATATATACATATATATACGTATATATATACGTAT ATATACGTATATATACGTATATATATATACGTATATATACGTATATATAT ATACGTATATATACGTATATATATATACGTATATATACGTATATATATAT ACGTATATATATACATATATACGTATATATATATATATACGTATATATAT GTATATATATACGTATATATATATACATATATATACGTATATATATACAT ATATACGTATATATATATATACGTATATATATGTATATATATACGTATAT ATATATATACGTATATATATG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	112	0.0089	420	c.116 others(441): Show c.1168-16506_1168-16505insCATATATATACGTATATATATATA CATATATATACGTATATATATATACGTATATATATACATATATACGTATA TATATATATATACGTATATATATGTATATATATACGTATATATATATACA TATATATACGTATATATATACGTATATATACGTATATATACGTATATATA TATACGTATATATACGTATATATATATACGTATATATACGTATATATATA TACGTATATATACGTATATATATATACGTATATATATACATATATACGTA TATATATATATATACGTATATATATGTATATATATACGTATATATATATA CATATATATACGTATATATATACATATATACGTATATATATATATACGTA TATATATGTATATATATACGTATATATATATATACGTATATATATG		CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	11/37						chr3	TogoVar
CACNB4_chr2_151827771_152104044	152074609	C C	CCATCACC others(413): Show CCATCACCATCACCCCCTCACCATTACCACCTCCACCATCACCATCACCC CCTCACCATTACCACCTCTATCATCACCATCACCCCCTCACCATTACCAC CTCCACCATCACCATCACCCCCTCACCATTACCACCTCTATCATCACCAT CACCCCCTCACCATTACCACCTCCACCATCACCATCACCCCCTCACCATT ACCACCTCTATCATCACCATCACCCCCTCACCATTACCACCTCCACCATC ACCATCACCCCCTCACCATTACCACCTCTATCATCACCATCACCCCCTCA CCATTACCACCTCCACCATCACCATCACCCCCTCACCATTACCACCTCTA TCATCACCATCACCCCCTCACCATTACCACCTCCACCATCACCATCACCC CCTCACCATTACCACCTCTAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0205 a0001c0001t0023g0205	1	132	0.0076	420	c.147 others(439): Show c.147+23720_147+23721insATAGAGGTGGTAATGGTGAGGGGGTG ATGGTGATGGTGGAGGTGGTAATGGTGAGGGGGTGATGGTGATGATAGAG GTGGTAATGGTGAGGGGGTGATGGTGATGGTGGAGGTGGTAATGGTGAGG GGGTGATGGTGATGATAGAGGTGGTAATGGTGAGGGGGTGATGGTGATGG TGGAGGTGGTAATGGTGAGGGGGTGATGGTGATGATAGAGGTGGTAATGG TGAGGGGGTGATGGTGATGGTGGAGGTGGTAATGGTGAGGGGGTGATGGT GATGATAGAGGTGGTAATGGTGAGGGGGTGATGGTGATGGTGGAGGTGGT AATGGTGAGGGGGTGATGGTGATGATAGAGGTGGTAATGGTGAGGGGGTG ATGGTGATGGTGGAGGTGGTAATGGTGAGGGGGTGATGGTGATG		CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	2/13						chr2	TogoVar
CALN1_chr7_71774491_72417338	72209189	T T	TTTCCTTC others(413): Show TTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCC TCCTTCCCTCCTTCCCTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTC CTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCT TCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTC CCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCCTCCT TCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCTTC CTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCCT TCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTC CTTCCCTCCTTCCTTCCCTCC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0028 a0001c0001t0017g0028	1	99	0.0101	420	c.244 others(439): Show c.244+69496_244+69497insGGAGGGAAGGAAGGAGGGAAGGAGGG AAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAG GGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAAGG AAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAG GGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGG AAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAG GGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGG AAGGAAGGAGGGAAGGAGGGAAGGACGGAGGGAAGGAGGGAAGGAGGGAA GGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAA		CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6						chr7	TogoVar
CAMKK2_chr12_121232692_121301709	121255224	A A	ATATATAT others(413): Show ATATATATAATTATATATATAATTTTATATATATATAATTATATATATAT AATTTTATATATATAATTATATATATAATTATATATATATAATTATATAT ATATAATTATATATTTTTATATATATAATTATATATATAATTTTATATAT ATATAATTATATATAATTATATATATATAATTATATATATTATATATATA ATTATATATATATATTATATATATAATTTTATATATATATAATTATATAT ATAATTTTATATATATAATTATATATATATAAAATTATATATATAATTTT ATATATAAAATTATATATATAATTTTATATATATAATTATATATATAATT TTATATATATAATTATATATATATAATTTTATATATATAATTATATATAT ATAATTTTATATATATATAAT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0299 a0002c0004t0002g0299	1	315	0.0032	420	c.907 others(435): Show c.907+325_907+326insATTATATATATATAAAATTATATATATATA ATTATATATATAAAATTATATATATATAATTATATATATAAAATTATATA TATAATTATATATATAAAATTATATATATAATTTTATATATAAAATTATA TATATAATTTTATATATATATAATTATATATATAAAATTATATATATAAT TATATATATATAAAATTATATATATAATATATATATATAATTATATATAT AATATATATAATTATATATATATAATTATATATAATTATATATATATAAA ATTATATATATAATTATATATATAAAAATATATAATTATATATATATAAT TATATATATATAATTATATATATAATTATATATATAAAATTATATATATA TAATTATATATATATAAAATTATATATATAATTATATATA		CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16						chr12	TogoVar
CCDC88A_chr2_55282842_55424856	55297381	A A	AAATATAT others(413): Show AAATATATATAATATATATTATATATAATATATATAATATATATAATATA TATTATATATTATATATAAATATATATAATATATATTATATAATATATAT TATATATAAATATATATAATATATAATATATATTATATATAAATATATAT AATATATAATATATATTATATATAAATATATATAATATATAATATATATT ATATATAAATATATATAATATATAATATATATTATATATAAATATATATA ATATATAATATATATTATATATAAATATATATAATATATAATATATATTA TATATAAATATATATAATATATAATATATATTATATATAAATATATATAA TATATAATATATATTATATATAAATATATATAATATATAATATATATTAT ATATAAATATATATAATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0005 a0001c0002t0006g0005	1	298	0.0034	420	c.482 others(437): Show c.4826-859_4826-858insATATATTATATATATTTATATATAATAT ATATTATATATTATATATATTTATATATAATATATATTATATATTATATA TATTTATATATAATATATATTATATATTATATATATTTATATATAATATA TATTATATATTATATATATTTATATATAATATATATTATATATTATATAT ATTTATATATAATATATATTATATATTATATATATTTATATATAATATAT ATTATATATTATATATATTTATATATAATATATATTATATATTATATATA TTTATATATAATATATATTATATATTATATATATTTATATATAATATATA TTATATAATATATATTATATATATTTATATATAATATATAATATATATTA TATATATTATATATATTATATATAATATATATTATATATATT		CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	29/32						chr2	TogoVar
CCDC88A_chr2_55282842_55424856	55384523	A A	ATATATAC others(413): Show ATATATACATATATACGTATGTATGTGTATATATACATATATACGTATGT ATGTGTATATATACATATATACGTATGTATGTGTATATATACATATATAC GTATGTATGTGTATATATACATATATACGTATGTATGTGTATATATACAT ATATACGTATGTATGTGTATATATACATATATACGTATGTATGTGTATAT ATACATATATACGTATGTATGTGTATATATACATATATACGTATGTATGT GTATATATACATATACATACGTATGTATGTGTATATATACATATATACGT ATGTATGTGTATATATACATATATACGTATGTATGTGTATATATACATAT ATACGTATGTATGTGTATATATACATATATACGTATGTATGTGTATATAT ACATATATACGTATGTATGTG	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA20805.hp2 HG02258.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0277 a0001c0001t0001g0214 a0001c0001t0001g0277	2	124	0.0161	420	c.273 others(437): Show c.273+4254_273+4255insCACATACATACGTATATATGTATATATA CACATACATACGTATATATGTATATATACACATACATACGTATATATGTA TATATACACATACATACGTATATATGTATATATACACATACATACGTATA TATGTATATATACACATACATACGTATGTATATGTATATATACACATACA TACGTATATATGTATATATACACATACATACGTATATATGTATATATACA CATACATACGTATATATGTATATATACACATACATACGTATATATGTATA TATACACATACATACGTATATATGTATATATACACATACATACGTATATA TGTATATATACACATACATACGTATATATGTATATATACACATACATACG TATATATGTATATATACACATACATACGTATATATGTATATA		CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	3/32						chr2	TogoVar
CCDC88A_chr2_55282842_55424856	55384523	A A	ATATATAC others(413): Show ATATATACATATATACGTATGTATGTGTATATATACATATATACGTATGT ATGTGTATATATACATATATACGTATGTATGTGTATATATATACATATAT ACGTATGTATGTGTATATATACATATATACGTATGTATGTGTATATATAC ATATATACGTATGTATGTGTATATATACATATATACGTATGTATGTGTAT ATATACATATATACGTATGTATGTGTATATATACATATATACGTATGTAT GTGTATATATACATATATACGTATGTATGTGTATATATACATATATACGT ATGTATGTGTATATATACATATATACGTATGTATGTGTATATATACATAT ATACGTATGTATGTGTATATATACATATATACGTATGTATGTGTATATAT ACATATATACGTATGTATGTG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0307 a0001c0001t0001g0307	1	123	0.0081	420	c.273 others(437): Show c.273+4254_273+4255insCACATACATACGTATATATGTATATATA CACATACATACGTATATATGTATATATACACATACATACGTATATATGTA TATATACACATACATACGTATATATGTATATATACACATACATACGTATA TATGTATATATACACATACATACGTATATATGTATATATACACATACATA CGTATATATGTATATATACACATACATACGTATATATGTATATATACACA TACATACGTATATATGTATATATACACATACATACGTATATATGTATATA TACACATACATACGTATATATGTATATATACACATACATACGTATATATG TATATATATACACATACATACGTATATATGTATATATACACATACATACG TATATATGTATATATACACATACATACGTATATATGTATATA		CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	3/32						chr2	TogoVar

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