Joint Open Genome and Omics Platform (JoGo)

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Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

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

Samplehapid

No_hapid

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DNAH8_chr6_38710311_39035792	38964350	G G	GGACGGGG others(338): Show GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCG GACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCAGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGACGGCTGGCCGGGCAGG GGGCCGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCCGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0018 a0018	a0018c0059 a0018c0059	a0018c0059t0002 a0018c0059t0002	a0018c0059t0002g0234 a0018c0059t0002g0234	1	284	0.0035	345	c.124 others(366): Show c.12452-7241_12452-7240insACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGACGGCTGGCCGGGCAGGGGGCCGACCCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCG	DNAH8	ENSG00000124721.18	transcript	ENST00000327475.11	protein_coding	82/92		INFO_REALIGN_3_PRIME	chr6	TogoVar
DNAH8_chr6_38710311_39035792	38964350	G G	GGACGGGG others(338): Show GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCG GACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGACGGCTGGCCGGGCAGG GGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGG GGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0020 a0020	a0020c0033 a0020c0033	a0020c0033t0001 a0020c0033t0001	a0020c0033t0001g0124 a0020c0033t0001g0124	1	284	0.0035	345	c.124 others(366): Show c.12452-7241_12452-7240insACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGACGGCTGGCCGGGCAGGGGGCCGACCCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCTGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCG	DNAH8	ENSG00000124721.18	transcript	ENST00000327475.11	protein_coding	82/92		INFO_REALIGN_3_PRIME	chr6	TogoVar
DNAH8_chr6_38710311_39035792	38964350	G G	GGACGGGG others(338): Show GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCG GACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGACGGCTGGCCGGGCAGG GGGCCGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00733.hp2 HG00741.hp2 others(34): Show HG00558.hp1 HG00733.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01106.hp1 HG01167.hp1 HG01169.hp1 HG01243.hp1 HG01433.hp1 HG01943.hp2 HG01981.hp2 HG02083.hp2 HG02300.hp2 HG02698.hp1 HG02698.hp2 HG02738.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03654.hp2 HG03688.hp2 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18946.hp2 NA18953.hp1 NA18954.hp1 NA18972.hp1 NA18990.hp1 NA19003.hp2 NA19004.hp1 NA19009.hp2 NA19011.hp1 NA19063.hp2 NA19081.hp2 NA19090.hp1	a0001 a0002 a0004 others(9): Show a0001 a0002 a0004 a0005 a0006 a0007 a0009 a0010 a0014 a0044 a0055 a0076	a0001c0001 a0001c0031 a0001c0101 others(14): Show a0001c0001 a0001c0031 a0001c0101 a0001c0103 a0002c0004 a0004c0015 a0005c0106 a0006c0029 a0007c0019 a0007c0067 a0009c0018 a0010c0009 a0010c0130 a0014c0020 a0044c0084 a0055c0132 a0076c0068	a0001c0001t0001 a0001c0031t0001 a0001c0101t0001 others(14): Show a0001c0001t0001 a0001c0031t0001 a0001c0101t0001 a0001c0103t0001 a0002c0004t0001 a0004c0015t0001 a0005c0106t0001 a0006c0029t0001 a0007c0019t0001 a0007c0067t0001 a0009c0018t0001 a0010c0009t0001 a0010c0130t0001 a0014c0020t0001 a0044c0084t0001 a0055c0132t0001 a0076c0068t0001	a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0107 others(34): Show a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0107 a0001c0001t0001g0114 a0001c0001t0001g0149 a0001c0001t0001g0181 a0001c0031t0001g0084 a0001c0031t0001g0085 a0001c0101t0001g0132 a0001c0103t0001g0118 a0002c0004t0001g0079 a0002c0004t0001g0187 a0002c0004t0001g0211 a0004c0015t0001g0030 a0004c0015t0001g0033 a0004c0015t0001g0077 a0005c0106t0001g0110 a0006c0029t0001g0015 a0007c0019t0001g0020 a0007c0019t0001g0217 a0007c0067t0001g0201 a0009c0018t0001g0173 a0009c0018t0001g0275 a0010c0009t0001g0062 a0010c0009t0001g0087 a0010c0009t0001g0120 a0010c0009t0001g0161 a0010c0009t0001g0263 a0010c0009t0001g0265 a0010c0009t0001g0281 a0010c0130t0001g0280 a0014c0020t0001g0064 a0014c0020t0001g0071 a0014c0020t0001g0072 a0044c0084t0001g0063 a0055c0132t0001g0045 a0076c0068t0001g0200	37	284	0.1303	345	c.124 others(366): Show c.12452-7241_12452-7240insACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGACGGCTGGCCGGGCAGGGGGCCGACCCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCG	DNAH8	ENSG00000124721.18	transcript	ENST00000327475.11	protein_coding	82/92		INFO_REALIGN_3_PRIME	chr6	TogoVar
DNAH8_chr6_38710311_39035792	38964350	G G	GGACGGGG others(338): Show GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCG GACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGACGGCTGGCCGGGCAGG GGGCCGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGG GGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA19077.hp1 NA18942.hp1 NA19077.hp1	a0006 a0006	a0006c0023 a0006c0023	a0006c0023t0001 a0006c0023t0001	a0006c0023t0001g0213 a0006c0023t0001g0218 a0006c0023t0001g0213 a0006c0023t0001g0218	2	284	0.0070	345	c.124 others(366): Show c.12452-7241_12452-7240insACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGACGGCTGGCCGGGCAGGGGGCCGACCCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCTGGGCGGGGGGCCGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCG	DNAH8	ENSG00000124721.18	transcript	ENST00000327475.11	protein_coding	82/92		INFO_REALIGN_3_PRIME	chr6	TogoVar
DNAH8_chr6_38710311_39035792	38964350	G G	GGACGGGG others(338): Show GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCG GACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGACGGCTGGCTGGGCAGG GGGCCGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0009 a0009	a0009c0055 a0009c0055	a0009c0055t0001 a0009c0055t0001	a0009c0055t0001g0197 a0009c0055t0001g0197	1	284	0.0035	345	c.124 others(366): Show c.12452-7241_12452-7240insACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGACGGCTGGCTGGGCAGGGGGCCGACCCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCG	DNAH8	ENSG00000124721.18	transcript	ENST00000327475.11	protein_coding	82/92		INFO_REALIGN_3_PRIME	chr6	TogoVar
DNAJC22_chr12_49341888_49358690	49358463	T T	TAAATTGT others(338): Show TAAATTGTGGTGCCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	362	0.0028	345	c.69 others(356): Show c.6961_*6962insAAATTGTGGTGCCCGGCCGGGCGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCT ACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTT GCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	DNAJC22	ENSG00000178401.16	transcript	ENST00000549441.7	protein_coding		4774		chr12	TogoVar
DNAJC5_chr20_63890126_63941011	63913074	C C	CGTCTCCA others(338): Show CGTCTCCATCTCCCTGTCTGCACTGCCTCTCCTGCTCCATCTCCCCATCT GCACCGTCTCTCCCTGCCCCGTCTCCATCTCCCTGTCTGCACTGCCTCTC CTGCTCCATCTCCCCATCTGCACCGTCTCTCCCTGCCCCGTCTCCATCTC CCTGTCTGCACTGCCTCTCCTGCTCCATCTCCCCATCTGCACCGTCTCTC CCTGCCCCGTCTCCATCTCCCTGTCTGCACTGCCTCTCCTGCTCCATCTC CCCATCTGCACCGTCTCTCCCTGCCCCGTCTCCATCTCCCTGTCTGCACT GCCTCTCCTGCTCCATCTCCCCATCTGCACCGTCTCTCCCTGCCCA	intron_variant intron_variant	MODIFIER	HG01168.hp1 NA18953.hp1 NA18954.hp2 others(2): Show HG01168.hp1 NA18953.hp1 NA18954.hp2 NA18975.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0247 others(2): Show a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0247 a0001c0001t0002g0253 a0001c0001t0002g0287	5	372	0.0134	345	c.-11 others(364): Show c.-11-15237_-11-15236insCCTCTCCTGCTCCATCTCCCCATCTG CACCGTCTCTCCCTGCCCCGTCTCCATCTCCCTGTCTGCACTGCCTCTCC TGCTCCATCTCCCCATCTGCACCGTCTCTCCCTGCCCCGTCTCCATCTCC CTGTCTGCACTGCCTCTCCTGCTCCATCTCCCCATCTGCACCGTCTCTCC CTGCCCCGTCTCCATCTCCCTGTCTGCACTGCCTCTCCTGCTCCATCTCC CCATCTGCACCGTCTCTCCCTGCCCCGTCTCCATCTCCCTGTCTGCACTG CCTCTCCTGCTCCATCTCCCCATCTGCACCGTCTCTCCCTGCCCAGTCTC CATCTCCCTGTCTGCACTG	DNAJC5	ENSG00000101152.12	transcript	ENST00000360864.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
DOCK3_chr3_50669927_51389198	50841728	T T	TTATTGTT others(338): Show TTATTGTTACCTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGAC TGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGACTACAGGCGCCCGCCA CCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTT GTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGG CCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	212	0.0047	345	c.162 others(358): Show c.162+29_162+30insTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGA CTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCAC GCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGACTACAGGCGCCCGCC ACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCT TGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCG GCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAT TGTTACCTTTTCT	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	3/52		INFO_REALIGN_3_PRIME	chr3	TogoVar
DOCK8_chr9_209865_470255	262448	T T	TAAAAAAA others(338): Show TAAAAAAAACCATGTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCTGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA18970.hp2 NA18997.hp1 HG02080.hp1 NA18970.hp2 NA18997.hp1	a0002 a0003 a0002 a0003	a0002c0006 a0003c0001 a0002c0006 a0003c0001	a0002c0006t0001 a0003c0001t0016 a0002c0006t0001 a0003c0001t0016	a0002c0006t0001g0237 a0002c0006t0001g0238 a0003c0001t0016g0157 a0002c0006t0001g0237 a0002c0006t0001g0238 a0003c0001t0016g0157	3	256	0.0117	345	c.54- others(360): Show c.54-9164_54-9163insTGGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCTGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAACCATGTT	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	1/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400981	C C	CACCACCA others(338): Show CACCACCACCTCCACCACCACCACCTCCACCACCACCACCACCTCCACCA CCTCCACCATCACCATCTTCACCATCACCATCACCACCACCTCCACCATC ACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCACCTCCAC CACCTCCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCA CCTCCACCACCACCACCTCCACCACCACCACCACCTCCACCACCACCCTC ACCACCTTCTCCACCACCACCATCTTCACCATCACCACCATCGCCCTGCC CACCTCTAGCAATATTATCACCTTTCCTATCACCTCCAATATCACT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0040 a0040	a0040c0048 a0040c0048	a0040c0048t0008 a0040c0048t0008	a0040c0048t0008g0012 a0040c0048t0008g0012	1	256	0.0039	345	c.323 others(364): Show c.3234+1725_3234+1726insACCACCTCCACCACCACCACCTCCAC CACCACCACCACCTCCACCACCTCCACCATCACCATCTTCACCATCACCA TCACCACCACCTCCACCATCACCACCACCTCCACCACCACCACCACCTCC ACCATCACCACCACCTCCACCACCTCCACCACCACCTCCACCACCACCAC CACCTCCACCACCACCACCACCTCCACCACCACCACCTCCACCACCACCA CCACCTCCACCACCACCCTCACCACCTTCTCCACCACCACCATCTTCACC ATCACCACCATCGCCCTGCCCACCTCTAGCAATATTATCACCTTTCCTAT CACCTCCAATATCACTACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400981	C C	CACCTCCT others(338): Show CACCTCCTTCACCATCACCACCACCTCCACCATCACCACCACCACCTCCA CCATCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACC ACCTCCACCATCACCACCACCTCCACCATCACCACCACCACCTCCACCAC CATCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCATCT TCACCATCACCACCACCTCCACCACCACCACCACCTCCACCACCACCCTC ACCACCTTCTCCACCACCACCATCTTCACCATCACCACCATCGCCCTGCC CACCTCTAGCAATATTATCACCTTTCCTATCACCTCCAATATCACT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0009 a0009	a0009c0035 a0009c0035	a0009c0035t0015 a0009c0035t0015	a0009c0035t0015g0218 a0009c0035t0015g0218	1	256	0.0039	345	c.323 others(364): Show c.3234+1729_3234+1730insTCACCATCACCACCACCTCCACCATC ACCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCATCTT CACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCATCACCA CCACCACCTCCACCACCATCACCACCACCTCCACCATCACCACCACCTCC ACCACCACCAGCATCTTCACCATCACCACCACCTCCACCACCACCACCAC CTCCACCACCACCCTCACCACCTTCTCCACCACCACCATCTTCACCATCA CCACCATCGCCCTGCCCACCTCTAGCAATATTATCACCTTTCCTATCACC TCCAATATCACTACCTCCT	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOP1A_chr6_83062671_83173471	83145197	T T	TATATAAT others(338): Show TATATAATATATATATTTAAAAGTATATATATAATATATATATATAATAT ATATAATATGTATATATAATATATATATAATATGTATAATATATATATAT TATATATATAATATATATAATATATATATAATATATATATAATATATATA TAATATATATATAATATATATATTATATATATATTATATATATATTATAT ATATATATAATATATATATTATATATATATTATATATATAATATATATAT AATATATATATAATATATATATTTAAAAGTATATATATATAATATATATA ATATATATATAATATATATATATTATATATATATAATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03453.hp2 HG02109.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0043 a0001c0001t0001g0044	2	298	0.0067	345	c.554 others(362): Show c.5542-322_5542-321insATATATATATTTAAAAGTATATATATAA TATATATATATAATATATATAATATGTATATATAATATATATATAATATG TATAATATATATATATTATATATATAATATATATAATATATATATAATAT ATATATAATATATATATAATATATATATAATATATATATTATATATATAT TATATATATATTATATATATATATAATATATATATTATATATATATTATA TATATAATATATATATAATATATATATAATATATATATTTAAAAGTATAT ATATATAATATATATAATATATATATAATATATATATATTATATATATAT AATATATATATAATATA	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	24/38		INFO_REALIGN_3_PRIME	chr6	TogoVar
DPH1_chr17_2025153_2048898	2035402	C C	CGGTGGGG others(338): Show CGGTGGGGAGGTAGCGGGGGTCCAGGCGAGGGGGCCCTGCCTGTGGTGGG GAGGGGGTGGGGGCCCTGCCTGTGGTGGGGAGGTAGTGGGGGTCCGGGTG AGGGGGCCCTGCCTGTGGTGGGGAGGGGGTGGGGGCCCTGCCTGTGGTGG GGAGGTAGTGGGGGTCCGGGTGAGGGGGCCCTGCCTGTGGTGGGGAGGTA GTGGGGGTCCGGGTGAGGGGGCCCTGCCTGTGGTGGGGAGGTAGTGGGGG TCCGGGTGAGGGGGCCCTGCCTGCGGTGGGGAGGTAGCGGGGGTCCAGGC GAGGGGGCCCTGCCTGTGGTGGGGAGGGGGTGGGGGCCCTGCCTAT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0158 a0003c0004t0001g0158	1	392	0.0026	345	c.279 others(360): Show c.279-555_279-554insCGGGGGTCCAGGCGAGGGGGCCCTGCCTGT GGTGGGGAGGGGGTGGGGGCCCTGCCTGTGGTGGGGAGGTAGTGGGGGTC CGGGTGAGGGGGCCCTGCCTGTGGTGGGGAGGGGGTGGGGGCCCTGCCTG TGGTGGGGAGGTAGTGGGGGTCCGGGTGAGGGGGCCCTGCCTGTGGTGGG GAGGTAGTGGGGGTCCGGGTGAGGGGGCCCTGCCTGTGGTGGGGAGGTAG TGGGGGTCCGGGTGAGGGGGCCCTGCCTGCGGTGGGGAGGTAGCGGGGGT CCAGGCGAGGGGGCCCTGCCTGTGGTGGGGAGGGGGTGGGGGCCCTGCCT ATGGTGGGGAGGTAG	DPH1	ENSG00000108963.19	transcript	ENST00000263083.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFEMP1_chr2_55860967_55928782	55873983	T T	TAAAAACA others(338): Show TAAAAACACCTTGACCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCATTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA19066.hp2 NA18939.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0244 a0001c0001t0005g0252 a0001c0001t0005g0244 a0001c0001t0005g0252	2	350	0.0057	345	c.100 others(362): Show c.1000+962_1000+963insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCT GGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCC CGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGC CTCGGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC CAGGTCAAGGTGTTTTT	EFEMP1	ENSG00000115380.20	transcript	ENST00000355426.8	protein_coding	9/11			chr2	TogoVar
EFNA5_chr5_107371894_107675937	107528361	T T	TAAGAAAA others(338): Show TAAGAAAACAGTTTTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0050 a0001c0001t0010g0050	1	190	0.0053	345	c.126 others(366): Show c.126-100853_126-100852insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCCCAAAACTGTTTTCTT	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
ELAPOR2_chr7_86871906_87064654	86918323	C C	CAAAAAAA others(338): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGAATTCTTAGGCCGGGCGC GGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGA TCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCG TCTCTACTAAAAATACAAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTG TAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGG AGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGG CGACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	196	0.0051	345	c.159 others(362): Show c.1593+118_1593+119insTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCTAAGAATTCCTTTTTTTTTTTT TTTTTTTTTTTTTTTTT	ELAPOR2	ENSG00000164659.15	transcript	ENST00000450689.7	protein_coding	12/21			chr7	TogoVar
ELMOD3_chr2_85349769_85396748	85362448	T T	TAAGATAA others(338): Show TAAGATAATTGCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTCGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02129.hp1 NA18994.hp1 HG02015.hp1 HG02129.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254	3	386	0.0078	345	c.129 others(360): Show c.129+201_129+202insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTCGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAGATAATTGCCA	ELMOD3	ENSG00000115459.18	transcript	ENST00000409013.8	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ENPP3_chr6_131632302_131752410	131694954	T T	TTGGCTAA others(338): Show TTGGCTAAGCCTATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTG CAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCAC TACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGT TTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGG CCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0031 a0001c0002t0002g0031	1	278	0.0036	345	c.141 others(364): Show c.1412+1346_1412+1347insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC TGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGC CCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCCTGGCTAAGCCTATTCT	ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	15/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
EPB41_chr1_28909569_29125041	29055652	T T	TAGAAAAT others(338): Show TAGAAAATAACTATGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	312	0.0032	345	c.184 others(364): Show c.1845+2355_1845+2356insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATGCA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAGAAAATAACTATGG	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	12/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	29100313	C C	CAAAAAAA others(338): Show CAAAAAAATTAGCTGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAA TTAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGA GATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG03453.hp1 NA18959.hp2 others(2): Show HG00558.hp1 HG03453.hp1 NA18959.hp2 NA18989.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0106 a0001c0001t0002g0109 a0001c0001t0002g0143 others(2): Show a0001c0001t0002g0106 a0001c0001t0002g0109 a0001c0001t0002g0143 a0001c0001t0002g0172 a0001c0001t0005g0194	5	312	0.0160	345	c.231 others(364): Show c.2313+2394_2313+2395insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAAAATTAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGTCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAATTAGCTGGG	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHA6_chr3_96809594_97766532	97082964	T T	TAGAAAAT others(338): Show TAGAAAATGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCG GCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGC CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0018 a0001c0003t0018	a0001c0003t0018g0020 a0001c0003t0018g0020	1	82	0.0122	345	c.111 others(366): Show c.1114+94980_1114+94981insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAGAAAATGC	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
ERICH1_chr8_659200_736224	714514	G G	GCGGCCTC others(338): Show GCGGCCTCTTCCGGCATCTCTCGGTGGGATGTGCTGCACCCAGGCGGCCT CTTCCCGCATCTCTCGGTGGGATGTGCTGCACCCAGGCGGCCTCTTCCGG CATCTCTCGGTGGGATGTGCTGCACCCAGGCGGCCTCTTCCGGCATCTCT CGGTGGGATGTGCTGCACCCAGGCGGCCTCTTCCGGCATCTCTCGGTGGG ATGTGCTGCACCCAGGCGGCCTCTTCCGGCATCTCTCGGTGGGATGTGCT GCACCCAGGCGGCCTCTTCCGGCATCTCTCGGTGGGATGTGCTGCACCCA GGCGGCCTCTTCCCGCATCTCTCGGTGGGATGTGCTGCACCCAGGC	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	378	0.0027	345	c.169 others(362): Show c.169+1346_169+1347insGCCTGGGTGCAGCACATCCCACCGAGAG ATGCGGGAAGAGGCCGCCTGGGTGCAGCACATCCCACCGAGAGATGCCGG AAGAGGCCGCCTGGGTGCAGCACATCCCACCGAGAGATGCCGGAAGAGGC CGCCTGGGTGCAGCACATCCCACCGAGAGATGCCGGAAGAGGCCGCCTGG GTGCAGCACATCCCACCGAGAGATGCCGGAAGAGGCCGCCTGGGTGCAGC ACATCCCACCGAGAGATGCCGGAAGAGGCCGCCTGGGTGCAGCACATCCC ACCGAGAGATGCGGGAAGAGGCCGCCTGGGTGCAGCACATCCCACCGAGA GATGCCGGAAGAGGCCG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
FAF1_chr1_50432028_50965267	50446976	T T	TCCCTAAT others(338): Show TCCCTAATAATTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGT GCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGC CATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCA CTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGT TTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGG CCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0032 a0001c0001t0003g0032	1	190	0.0053	345	c.187 others(364): Show c.1870-5454_1870-5453insGGCCGGGCGCAGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAGAAAATTATTAGGG	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	18/18			chr1	TogoVar
FAF1_chr1_50432028_50965267	50530306	T T	TGTGTGTG others(338): Show TGTGTGTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGT GCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGT CATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCA CTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGT TTTAGCCGGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCGCCTCGG CCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	190	0.0053	345	c.149 others(364): Show c.1494+5062_1494+5063insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAAGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGACGTGAACCCAGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAATACACACAC	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	15/18			chr1	TogoVar
FAM135B_chr8_138125023_138502261	138313722	T T	TAAGATAC others(338): Show TAAGATACAAGCTACGGCCGGGCGCGGTGGCTCGTGCCTGTAATCCTAGC ACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCTTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAATACAAAAAATTA GCCGGGCGTGTTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCTGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAACAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0030 a0003c0001t0030	a0003c0001t0030g0125 a0003c0001t0030g0125	1	212	0.0047	345	c.78- others(360): Show c.78-2803_78-2802insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG TTTTTGTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCT GGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTT CATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCC CGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTC ACCGTGTTAGCCAAGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGT CTCGGCCTCCCAAAGTGCTAGGATTACAGGCACGAGCCACCGCGCCCGGC CGTAGCTTGTATCTT	FAM135B	ENSG00000147724.12	transcript	ENST00000395297.6	protein_coding	2/19			chr8	TogoVar
FAM240C_chr2_241888988_241905464	241896512	G G	GGTGTGGG others(338): Show GGTGTGGGGGTGTGGGTGTTGGGGTGTGTGTGTTGGGGTGTGGGTGTGGG GGTGTGGGTGAAGGGGGGTGTGGGTGAAGGGGGTGTGGGTGTGGGGGTGT GGGTGTTGGGGGTGTGTGTGTTGGGGTGTGGGTGTGGGGGTGTGGGTGAA GGGGTGTGGGTGAAGGGGGTGTGGGTGAAGGGGGTGTGGGTGTGGGGGTG TGGGTGTTGGGGGTGTGTGTGTTGGGGTGTGGGTGTGGGGGTGTGGGTGT TGGGGGTGTGTGTGTTGGGGTGTGGGTGTGGGGGTGTGGTGTGGGGGTGT GGGTGAGTGGGGGTGTGGGTGTTGGGGTGTGGGTGTTGGGGTGTGT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0005	1	37	0.0270	345	c.161 others(360): Show c.161+673_161+674insACACACCCCAACACCCACACCCCAACACCC ACACCCCCACTCACCCACACCCCCACACCACACCCCCACACCCACACCCC AACACACACACCCCCAACACCCACACCCCCACACCCACACCCCAACACAC ACACCCCCAACACCCACACCCCCACACCCACACCCCCTTCACCCACACCC CCTTCACCCACACCCCTTCACCCACACCCCCACACCCACACCCCAACACA CACACCCCCAACACCCACACCCCCACACCCACACCCCCTTCACCCACACC CCCCTTCACCCACACCCCCACACCCACACCCCAACACACACACCCCAACA CCCACACCCCCACAC	FAM240C	ENSG00000216921.9	transcript	ENST00000404031.6	protein_coding	2/2			chr2	TogoVar
FARS2_chr6_5256513_5776583	5525242	T T	TTGGTGTA others(338): Show TTGGTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGC AGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACC GCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGT TAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCC TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCCA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0146 a0001c0001t0002g0146	1	170	0.0059	345	c.905 others(364): Show c.905-19937_905-19936insGGTGTATTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCTGGCCCAT	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FBN1_chr15_48403313_48650709	48563381	A A	AAGGAGAT others(338): Show AAGGAGATTGCCTCTTTTATTTTATTTTATTTTTTTTATTTTATTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGT GGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACG CCCGGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTT TTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGC CTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18994.hp1 NA18995.hp2 NA18944.hp2 NA18994.hp1 NA18995.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0158 a0002c0003t0006g0160 a0002c0003t0006g0161 a0002c0003t0006g0158 a0002c0003t0006g0160 a0002c0003t0006g0161	3	288	0.0104	345	c.539 others(364): Show c.539-25574_539-25573insAGGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG ATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTA CTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTG CAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAATAAAATAAAAAAAATAAAATAAA ATAAAAGAGGCAATCTCCT	FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	6/65			chr15	TogoVar
FERMT1_chr20_6069845_6128030	6079344	G G	GAAGAACA others(338): Show GAAGAACACCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGCCCAGGCTGGAGTG CAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCCCCCTGGGGTTCACGC CATTCTCCTGCCTCAGCCTCCCGAGAAGCTGGGACTACAGGCGCCCGCCA CCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGT GTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGG CCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp2 HG02257.hp2 HG02280.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0059 a0002c0011t0060 a0002c0011t0059 a0002c0011t0060	a0002c0011t0059g0300 a0002c0011t0060g0301 a0002c0011t0059g0300 a0002c0011t0060g0301	2	368	0.0054	345	c.186 others(360): Show c.1860+91_1860+92insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTTCTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGC CGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAGGTGTTCTT	FERMT1	ENSG00000101311.17	transcript	ENST00000217289.9	protein_coding	14/14			chr20	TogoVar
FLACC1_chr2_201283271_201362345	201284695	G G	GGGGAGAG others(338): Show GGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAG ACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGG GGAGAGGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGACGGGAG ACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGG GGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAG AGGGAGGCGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGG GGAGAGGGAGAGGGAGACGAGAGGGAGAGGGAGAGGGAGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG02723.hp2 HG02818.hp1 others(5): Show HG01175.hp2 HG02723.hp2 HG02818.hp1 HG03139.hp2 HG03225.hp2 HG03453.hp1 NA18522.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0033 a0001c0001t0004g0286 others(3): Show a0001c0001t0004g0004 a0001c0001t0004g0033 a0001c0001t0004g0286 a0001c0001t0004g0287 a0001c0001t0004g0288 a0001c0001t0004g0305	8	370	0.0216	345	c.39 others(356): Show c.3959_*3960insTCTCCCTCTCCCTCTCCCTCTCCCTCTCGTCTCC CTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCT CCCCGCCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCC CTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCT CCCTCTCCCCGTCTCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCGTCTCC CTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCT CCCTCTCCCCGTCTCCCTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCT CTCCCTCTCCC	FLACC1	ENSG00000155749.13	transcript	ENST00000392257.8	protein_coding		3575		chr2	TogoVar
FRMPD3_chrX_107444652_107610251	107570243	T T	TGAAATGT others(338): Show TGAAATGTTTACCAGGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02922.hp1 HG02055.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0088 a0001c0002t0002g0113 a0001c0002t0002g0088 a0001c0002t0002g0113	2	183	0.0109	345	c.129 others(364): Show c.1296+5191_1296+5192insGGGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGA GATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAGAAATGTTTACCAG	FRMPD3	ENSG00000147234.11	transcript	ENST00000683843.1	protein_coding	12/14		INFO_REALIGN_3_PRIME	chrX	TogoVar
GAK_chr4_844277_937316	926958	T T	TCCCCGCT others(338): Show TCCCCGCTCACCTGCAGTCCGCACTGCCCCGCACCCCTCCCCGCTCACCT GCAGTCCGCACTGCCCCGCACCCCTCCCCGCTCACCTGCGCTCCGCACTG CCCCGCACCCCTCCCCGCTCACCTGCGCTCCGCACTGCCCCGCAACCCCC CCCCACCCCGCTCACCTGCGCTCCGCACTGCCCCGCACCCCTCCCCGCTC ACCTGCAGTCCGCACTGCCCCGCACCCCTCCCCGCTCACCTGCAGTCCGC ACTGCCCCGCACCCCTCCCCGCTCACCTGCGCTCCGCACTGCCCCGCACC CCTCCCCGCTCACCTGCGCTCCGCACTGCCCCGCAACCCCCCCCCA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0265 a0001c0002t0001g0265	1	390	0.0026	345	c.145 others(362): Show c.145+5084_145+5085insTGGGGGGGGGTTGCGGGGCAGTGCGGAG CGCAGGTGAGCGGGGAGGGGTGCGGGGCAGTGCGGAGCGCAGGTGAGCGG GGAGGGGTGCGGGGCAGTGCGGACTGCAGGTGAGCGGGGAGGGGTGCGGG GCAGTGCGGACTGCAGGTGAGCGGGGAGGGGTGCGGGGCAGTGCGGAGCG CAGGTGAGCGGGGTGGGGGGGGGTTGCGGGGCAGTGCGGAGCGCAGGTGA GCGGGGAGGGGTGCGGGGCAGTGCGGAGCGCAGGTGAGCGGGGAGGGGTG CGGGGCAGTGCGGACTGCAGGTGAGCGGGGAGGGGTGCGGGGCAGTGCGG ACTGCAGGTGAGCGGGG	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GALR1_chr18_77244848_77282900	77252893	C C	CCACCACC others(338): Show CCACCACCACCATCACCACCACCACCACCACCACCACCACCACCATCACC ACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCACCAC CACCACCACCATCACCACCACCACCACCATCACCACCACCACCACCACCA CCATCACCACCACCACCATCACCACCATCACCACCACCACCACCACCACC ACCATCACCACCACCACCACCACCACCATCACCACCACCACCACCACCAC CACCACCACCACCACCATCACCACCACCACCATCACCACCATCACCACCA CCACCACCACCACCACCATCACCACCACCACCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	366	0.0027	345	c.666 others(362): Show c.666+1681_666+1682insCCACCACCATCACCACCACCACCACCAC CACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCA TCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCATC ACCACCACCACCACCACCACCATCACCACCACCACCATCACCACCATCAC CACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCATCA CCACCACCACCACCACCACCACCACCACCACCACCATCACCACCACCACC ATCACCACCATCACCACCACCACCACCACCACCACCATCACCACCACCAC CACCACCACCACCATCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GALR1_chr18_77244848_77282900	77259065	C C	CATGGTGG others(338): Show CATGGTGGCGATTGTGGTGATGGTGGTGGATGGTGGTGGTGGTCACAGTG GTGGTGGTTATGGTGGTGATGATGGTCATGGTGGTCATGGTGGTGATGAC GGTGATGATGATGGTGGTCATGGTGGCGATTGTGGTGATGGTGGTGGATG GTGGTGGTGGTCACAGTGGTGGTGGTGTTGGTGTTGGTGGTGGTCATGGT GGTCATGGTGGTGATGACGGTGATGATGATGGTGGTCATGGTGGCGATTG TGGTGATGGTGGTGGATGGTGGTGGTGGTCACAGTGGTGGTGGTTATGGT GGTGATGATGGTCATGGTGGTCATGGTGGTGATGACGGTGATGATG	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0084 a0001c0001t0084	a0001c0001t0084g0292 a0001c0001t0084g0292	1	366	0.0027	345	c.732 others(362): Show c.732+2849_732+2850insCGATTGTGGTGATGGTGGTGGATGGTGG TGGTGGTCACAGTGGTGGTGGTTATGGTGGTGATGATGGTCATGGTGGTC ATGGTGGTGATGACGGTGATGATGATGGTGGTCATGGTGGCGATTGTGGT GATGGTGGTGGATGGTGGTGGTGGTCACAGTGGTGGTGGTGTTGGTGTTG GTGGTGGTCATGGTGGTCATGGTGGTGATGACGGTGATGATGATGGTGGT CATGGTGGCGATTGTGGTGATGGTGGTGGATGGTGGTGGTGGTCACAGTG GTGGTGGTTATGGTGGTGATGATGGTCATGGTGGTCATGGTGGTGATGAC GGTGATGATGATGGTGG	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GHITM_chr10_84134509_84158568	84157913	T T	TCAAGGAT others(338): Show TCAAGGATCACTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAG TGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCC ACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC GTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCTCG GCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	450	0.0022	345	c.55 others(356): Show c.5565_*5566insCAAGGATCACTTTCTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGC	GHITM	ENSG00000165678.22	transcript	ENST00000372134.6	protein_coding		4346		chr10	TogoVar
GHR_chr5_42418439_42726878	42625748	T T	TAAGATAT others(338): Show TAAGATATGTTTCTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAAA ATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGGGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04228.hp2 HG04204.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0193 a0001c0001t0005g0079 a0001c0001t0002g0193 a0001c0001t0005g0079	2	210	0.0095	345	c.71- others(360): Show c.71-3276_71-3275insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAA AAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGGGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAGATATGTTTCTT	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42719833	T T	TGTTGTTT others(338): Show TGTTGTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAG TGGCGCAATCTCGGCTCACTGCAGGCTCCGCCCCCTGGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAGGCGCCCGCCACCT CGCCCGGCTAATTTTTTGTATTTTTTTTAGTAGAGACAGGGTTTCACCGT GTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGG CCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02071.hp2 NA18940.hp2 NA18967.hp1 others(1): Show HG02071.hp2 NA18940.hp2 NA18967.hp1 NA19007.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0011 a0004c0004t0011	a0004c0004t0011g0001 a0004c0004t0011g0002 a0004c0004t0011g0139 others(1): Show a0004c0004t0011g0001 a0004c0004t0011g0002 a0004c0004t0011g0139 a0004c0004t0011g0163	4	210	0.0191	345	c.41 others(354): Show c.419_*420insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGCCCAGGCTGGAGTG CAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCCCCCTGGGGTTCACGC CATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAGGCGCCCGCCA CCTCGCCCGGCTAATTTTTTGTATTTTTTTTAGTAGAGACAGGGTTTCAC CGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCT CGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCG TTGTTTCTT	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	10/10	420	INFO_REALIGN_3_PRIME	chr5	TogoVar
GOLIM4_chr3_168003689_168100924	168069926	T T	TAGAAAGA others(338): Show TAGAAAGATGGTGCTACTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGA CCATCCTGGCTAACAAGGTGAAACCCCGTCTCTGCTAAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0115 a0001c0001t0005g0115	1	228	0.0044	345	c.188 others(364): Show c.188-21562_188-21561insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGC GGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCC CGCCACCGCGCCCGGCTAATTTTTTGTATTTTTTAGCAGAGACGGGGTTT CACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG CCAGTAGCACCATCTTTCT	GOLIM4	ENSG00000173905.9	transcript	ENST00000470487.6	protein_coding	1/15			chr3	TogoVar
GPHN_chr14_66503147_67186803	67012344	T T	TGTATTCT others(338): Show TGTATTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACT GCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGC CATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCA CCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTT GTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGG CCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	234	0.0043	345	c.964 others(364): Show c.964-11275_964-11274insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGA CTGCGGACTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCTTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGG CGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCAC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCCGTATTCTGTCTTTT	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr14	TogoVar
GPR158_chr10_25170001_25607229	25198985	T T	TAAAATAT others(338): Show TAAAATATTTCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCC TGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAG CCGGGCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATT GCGCCACTGCAGTCCGCAGTCCCACCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA20300.hp2 NA18973.hp2 NA20300.hp2	a0002 a0007 a0002 a0007	a0002c0002 a0007c0008 a0002c0002 a0007c0008	a0002c0002t0012 a0007c0008t0003 a0002c0002t0012 a0007c0008t0003	a0002c0002t0012g0140 a0007c0008t0003g0123 a0002c0002t0012g0140 a0007c0008t0003g0123	2	162	0.0124	345	c.903 others(364): Show c.903-22056_903-22055insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAAATTAGCCGGGCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCACCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAATATTTCT	GPR158	ENSG00000151025.11	transcript	ENST00000376351.4	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
GRIP1_chr12_66342431_66684076	66512565	T T	TGAAAAAC others(338): Show TGAAAAACAGATGACTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0028 a0002c0002t0002g0028	1	224	0.0045	345	c.724 others(362): Show c.724+3053_724+3054insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCT GGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCC CGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC CTAGTCATCTGTTTTTC	GRIP1	ENSG00000155974.14	transcript	ENST00000359742.9	protein_coding	7/24			chr12	TogoVar
GRTP1_chr13_113319163_113369130	113364444	A A	AGGAGGGG others(338): Show AGGAGGGGCAGGAGCGGGGGAGGGGCGGGGGAGGGCCGGGGGAGGGGCAG GGGAAGCACCCAGGGCGGGGGAGGGGCGGGGCTGGGGGGGGCGGGAGGCC TTGGGGAGAGAGGAGGGGCAGGAGCGGGGGAGGGGCAGGGGAGCACCCAG GGCGGGGGAGGGGCGGGGCTGGGGGCGGGGAGGACTTGGGGACAGAGGAG GGGCAGGAGCGGGGGAGGGGGAGGGGCAGGGGAGGACCCAGGGCGGGGGA GGGGCGGGGCTGGGGGCGGGAGGACCTGGGGAGAGAGGAGGGGCGGGGGA GGGGGAGGGGAGAGAGGAGAGGGTGGGGGCGGGGCGGGGAATGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0032 a0001c0001t0004g0032	1	288	0.0035	345	c.-39 others(354): Show c.-394_-393insGCCCATTCCCCGCCCCGCCCCCACCCTCTCCTCTCT CCCCTCCCCCTCCCCCGCCCCTCCTCTCTCCCCAGGTCCTCCCGCCCCCA GCCCCGCCCCTCCCCCGCCCTGGGTCCTCCCCTGCCCCTCCCCCTCCCCC GCTCCTGCCCCTCCTCTGTCCCCAAGTCCTCCCCGCCCCCAGCCCCGCCC CTCCCCCGCCCTGGGTGCTCCCCTGCCCCTCCCCCGCTCCTGCCCCTCCT CTCTCCCCAAGGCCTCCCGCCCCCCCCAGCCCCGCCCCTCCCCCGCCCTG GGTGCTTCCCCTGCCCCTCCCCCGGCCCTCCCCCGCCCCTCCCCCGCTCC TGCCCCTCC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding		315		chr13	TogoVar
GRTP1_chr13_113319163_113369130	113364444	A A	AGGAGGGG others(338): Show AGGAGGGGCAGGAGCGGGGGAGGGGCGGGGGAGGGCCGGGGGAGGGGCAG GGGAGCACCCAGGGCGGGGGAGGGGCGGGGCTGGGGGGGGCGGGAGGCCT TGGGGAGAGAGGAGGGGCAGGAGCGGGGGAGGGGCAGGGGAGCACCCAGG GCGGGGGAGGGGCGGGGCTGGGGGCGGGGAGGACTTGGGGACAGAGGAGG GGCAGGAGCGGGGGAGGGGGAGGGGCAGGGGAGCACCCAGGGCGGGGGAG GGGCGGGGCTGGGGGCGGGAGGACCTGGGGAGAGAGGAGGGGCGGGGGGA GGGGGAGGGGAGAGAGGAGAGGGTGGGGGCGGGGCGGGGAATGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0025 a0001c0001t0003g0025	1	288	0.0035	345	c.-39 others(354): Show c.-394_-393insGCCCATTCCCCGCCCCGCCCCCACCCTCTCCTCTCT CCCCTCCCCCTCCCCCCGCCCCTCCTCTCTCCCCAGGTCCTCCCGCCCCC AGCCCCGCCCCTCCCCCGCCCTGGGTGCTCCCCTGCCCCTCCCCCTCCCC CGCTCCTGCCCCTCCTCTGTCCCCAAGTCCTCCCCGCCCCCAGCCCCGCC CCTCCCCCGCCCTGGGTGCTCCCCTGCCCCTCCCCCGCTCCTGCCCCTCC TCTCTCCCCAAGGCCTCCCGCCCCCCCCAGCCCCGCCCCTCCCCCGCCCT GGGTGCTCCCCTGCCCCTCCCCCGGCCCTCCCCCGCCCCTCCCCCGCTCC TGCCCCTCC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding		315		chr13	TogoVar
GRTP1_chr13_113319163_113369130	113364444	A A	AGGAGGGG others(338): Show AGGAGGGGCAGGAGCGGGGGAGGGGCGGGGGAGGGCCGGGGGAGGGGCAG GGGAGCACCCAGGGCGGGGGAGGGGCGGGGCTGGGGGGGGCGGGAGGCCT TGGGGAGAGAGGAGGGGCAGGAGCGGGGGAGGGGCAGGGGAGCACCCAGG GCGGGGGAGGGGCGGGGCTGGGGGCGGGGAGGACTTGGGGACAGAGGAGG GGCAGGAGCGGGGGAGGGGGAGGGGCAGGGGAGCACCCAGGGCGGGGGAG GGGCGGGGCTGGGGGGCGGGAGGACCTGGGGAGAGAGGAGGGGCGGGGGA GGGGGAGGGGAGAGAGGAGAGGGTGGGGGCGGGGCGGGGAATGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	288	0.0035	345	c.-39 others(354): Show c.-394_-393insGCCCATTCCCCGCCCCGCCCCCACCCTCTCCTCTCT CCCCTCCCCCTCCCCCGCCCCTCCTCTCTCCCCAGGTCCTCCCGCCCCCC AGCCCCGCCCCTCCCCCGCCCTGGGTGCTCCCCTGCCCCTCCCCCTCCCC CGCTCCTGCCCCTCCTCTGTCCCCAAGTCCTCCCCGCCCCCAGCCCCGCC CCTCCCCCGCCCTGGGTGCTCCCCTGCCCCTCCCCCGCTCCTGCCCCTCC TCTCTCCCCAAGGCCTCCCGCCCCCCCCAGCCCCGCCCCTCCCCCGCCCT GGGTGCTCCCCTGCCCCTCCCCCGGCCCTCCCCCGCCCCTCCCCCGCTCC TGCCCCTCC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding		315		chr13	TogoVar
GRTP1_chr13_113319163_113369130	113364444	A A	AGGAGGGG others(338): Show AGGAGGGGCAGGAGCGGGGGAGGGGCGGGGGGAGGGCCGGGGGAGGGGCA GGGGAGCACCCAGGGCGGGGGAGGGGCGGGGCTGGGGGGGGCGGGAGGCC TTGGGGAGAGAGGAGGGGCAGGAGCGGGGGAGGGGCAGGGGAGCACCCAG GGCGGGGGAGGGGCGGGGCTGGGGGCGGGGAGGACTTGGGGACAGAGGAG GGGCAGGAGCGGGGGAGGGGGAGGGGCAGGGGAGCACCCAGGGCGGGGGA GGGGCGGGGCTGGGGGCGGGAGGACCTGGGGAGAGAGGAGGGGCGGGGGA GGGGGAGGGGAGAGAGGAGAGGGTGGGGGCGGGGCGGGGAATGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	288	0.0035	345	c.-39 others(354): Show c.-394_-393insGCCCATTCCCCGCCCCGCCCCCACCCTCTCCTCTCT CCCCTCCCCCTCCCCCGCCCCTCCTCTCTCCCCAGGTCCTCCCGCCCCCA GCCCCGCCCCTCCCCCGCCCTGGGTGCTCCCCTGCCCCTCCCCCTCCCCC GCTCCTGCCCCTCCTCTGTCCCCAAGTCCTCCCCGCCCCCAGCCCCGCCC CTCCCCCGCCCTGGGTGCTCCCCTGCCCCTCCCCCGCTCCTGCCCCTCCT CTCTCCCCAAGGCCTCCCGCCCCCCCCAGCCCCGCCCCTCCCCCGCCCTG GGTGCTCCCCTGCCCCTCCCCCGGCCCTCCCCCCGCCCCTCCCCCGCTCC TGCCCCTCC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding		315		chr13	TogoVar
HELZ2_chr20_63553086_63579239	63566650	C C	CGACAAGG others(338): Show CGACAAGGAGACGGCACCCCCACCAAGCTCGGGGATGAGCGCAGGACTCA GTGAGGACTGGGCCACCCCCGACAAGGAGAGGGCACCCCCACCAAGCTCG GGGATGAGCGCAGGACTCAGTGAGGACTGGGCCACCCCCGACAAGGAGAG GGCACCCCCACCAAGCTCGGGGATGAACGCAGGACGCAGTGAGGACTGGG CCACCCCCGACAAGGAGACGGCACCCCCACCAAGCTCGGGGATGAGCGCA GGGCGCAGTGAGGACTGGGCCACCCCCGACAAGGAGACGGCACCCCCACC AAGCTCGGGGATGAGCGCAGGACTCAGTGAGGACTGGGCCACCCCA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01891.hp2 HG02109.hp1 others(4): Show HG01109.hp2 HG01891.hp2 HG02109.hp1 HG02647.hp1 HG02647.hp2 NA18522.hp1 NA19240.hp1	a0009 a0025 a0083 a0009 a0025 a0083	a0009c0014 a0025c0026 a0083c0132 a0009c0014 a0025c0026 a0083c0132	a0009c0014t0001 a0009c0014t0003 a0009c0014t0004 others(3): Show a0009c0014t0001 a0009c0014t0003 a0009c0014t0004 a0025c0026t0098 a0025c0026t0099 a0083c0132t0020	a0009c0014t0001g0243 a0009c0014t0003g0242 a0009c0014t0004g0084 others(4): Show a0009c0014t0001g0243 a0009c0014t0003g0242 a0009c0014t0004g0084 a0009c0014t0004g0241 a0025c0026t0098g0236 a0025c0026t0099g0237 a0083c0132t0020g0042	7	390	0.0180	345	c.251 others(362): Show c.2514+193_2514+194insTGGGGTGGCCCAGTCCTCACTGAGTCCT GCGCTCATCCCCGAGCTTGGTGGGGGTGCCGTCTCCTTGTCGGGGGTGGC CCAGTCCTCACTGCGCCCTGCGCTCATCCCCGAGCTTGGTGGGGGTGCCG TCTCCTTGTCGGGGGTGGCCCAGTCCTCACTGCGTCCTGCGTTCATCCCC GAGCTTGGTGGGGGTGCCCTCTCCTTGTCGGGGGTGGCCCAGTCCTCACT GAGTCCTGCGCTCATCCCCGAGCTTGGTGGGGGTGCCCTCTCCTTGTCGG GGGTGGCCCAGTCCTCACTGAGTCCTGCGCTCATCCCCGAGCTTGGTGGG GGTGCCGTCTCCTTGTC	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	7/19			chr20	TogoVar
HIVEP3_chr1_41501365_41923922	41544953	T T	TCTACCAC others(338): Show TCTACCACCACCATCACCACCACCACCACCATCACCTCTACCACCACCAT CACCACCACCACCACCATCACCACCACCACCACCATCACCACCTCTACCA CCACCATCACCACCACCACTATCACCACCTCTACCACCACCATCACCACC ACCACCACCATCACCACCACCACCACCATCACCACCTCTACCACCACCAT CACCACCACCACTATCACCACCTCTACCACCACCATCACCACCACCACCA CCACCTCTACCACCACCATCACCACCACCACCACCACCACCTCTACCACC ACCATCACTACTACCACCACCACCATCACCACCTCTACCACCATCG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0016 a0016	a0016c0023 a0016c0023	a0016c0023t0010 a0016c0023t0010	a0016c0023t0010g0081 a0016c0023t0010g0081	1	134	0.0075	345	c.520 others(366): Show c.5208-20044_5208-20043insCGATGGTGGTAGAGGTGGTGATGG TGGTGGTGGTAGTAGTGATGGTGGTGGTAGAGGTGGTGGTGGTGGTGGTG GTGATGGTGGTGGTAGAGGTGGTGGTGGTGGTGGTGATGGTGGTGGTAGA GGTGGTGATAGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGATGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTG ATAGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGATGGTGGTGGTGGT GGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGATGGTGGTGG TGGTGGTGATGGTGGTGGTAG	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar
HLA-C_chr6_31263749_31277092	31264271	T T	TAAAAAAA others(338): Show TAAAAAAAAATTAAGCATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGA CCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGA GATTGCGCCACTGCAGTCTGCAGTCCGACCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp1 NA18960.hp1 NA19057.hp1 NA18612.hp1 NA18960.hp1 NA19057.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0005 a0009c0009t0005	a0009c0009t0005g0009 a0009c0009t0005g0009	3	449	0.0067	345	c.48 others(356): Show c.4897_*4898insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCAGACTGC AGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACC GCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGT TAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCC TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATGCTT AATTTTTTTTT	HLA-C	ENSG00000204525.18	transcript	ENST00000376228.10	protein_coding		4477		chr6	TogoVar
HNRNPDL_chr4_82417569_82435462	82419529	T T	TAAAGATT others(338): Show TAAAGATTACTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01975.hp2 HG01069.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	348	0.0058	345	c.53 others(356): Show c.5376_*5377insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCT GGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCC CGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC CAGTAATCTTT	HNRNPDL	ENSG00000152795.18	transcript	ENST00000295470.10	protein_coding		3039		chr4	TogoVar
IFNAR1_chr21_33319970_33364864	33321573	A A	ACATACAT others(338): Show ACATACATGCGTGGAACCAATACATATGTGGAACATACATGCGTGGAACC AATACATATGTGGAACATACATGCGTGGAACCAATACATATGTGGAACAT ACATGCGTGGAACCAATACATATGTGGAACATACATGCGTGGAACCAATA CATATGTGGAACATACATGCGTGGAACCAATACATATGTGGAACATACAT GCGTGGAACCAATACATATGTGGAACATACATGCGTGGAACCAATACATA TGTGGAACTGTGGAACCAATACATATGTGGACCATACATGTGTGGAACCA ATACATATGTGGACCATACATGTGTGGAACCAATACATATGTGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0139 a0001c0001t0012g0139	1	323	0.0031	345	c.-34 others(356): Show c.-3483_-3482insCATACATGCGTGGAACCAATACATATGTGGAACA TACATGCGTGGAACCAATACATATGTGGAACATACATGCGTGGAACCAAT ACATATGTGGAACATACATGCGTGGAACCAATACATATGTGGAACATACA TGCGTGGAACCAATACATATGTGGAACATACATGCGTGGAACCAATACAT ATGTGGAACATACATGCGTGGAACCAATACATATGTGGAACATACATGCG TGGAACCAATACATATGTGGAACTGTGGAACCAATACATATGTGGACCAT ACATGTGTGGAACCAATACATATGTGGACCATACATGTGTGGAACCAATA CATATGTGGAC	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3396		chr21	TogoVar

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