Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MYO16_chr13_108624611_109213005	108709397	GGCACAAT others(685): Show GGCACAATCACTGGAGTCCTGTTGCTACACTTGAGTTCTAGCTCCATCAT GTACCTACAGCTTCAGGGAACCACGTAATGTAACAGAGCCTCAGCTTCCT TATTAGTAAAAGAAAGAGTGACGATTATAGTGTCTGTATTATAGAGGTGT GGAGGGAATTAAAGTAATTCTTACACGTAAGGTACTCAGTACAGGGTTAT ACCAAAGATGTTCAACATGTATTCGTTTCATAATTTTCTTCTCAAAATTA TTATAAACTAATTATTACACAAATGATATTTTCTTCATTGTATCTTCACA TTTAGGTCTCTTACAATTCCAGTTTTTAACCCTTAGCAGAGCCATAGAAT TTAGTTCACACTACTATCTTTATATGCGAAGAATAACCTATTTCTCTATT TGGCCAGTAGTCGACTTTGTCTTATTCTTGAGTCCTTACTCATGGTAATG ATGGGCAAGCCAGTTAATATCGAGTCTGTGGTTCTAATATGGTTCCATCT TGATCATGCAAACAGCCCTCTCAAAAAAACTGTCCTATCTAGGACAAACA AAACTCAGATTGCCCTTTTCTCACTAGGATGATGCCGGGCTGGATGGAGG AAGAAGCCTTTCTTCCTAGCCTGTTTCTCTGTGATGAAAAGGACCTTCAA AGAGCTTGAGTGTAGCCCTGCTCTCATTCCTGGGCATTCCTGT	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00621.hp2 HG00642.hp1 others(32): Show HG00558.hp2 HG00621.hp2 HG00642.hp1 HG00673.hp2 HG00738.hp1 HG01109.hp2 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01891.hp1 HG01981.hp2 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02523.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG03130.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp2 HG03834.hp1 NA18612.hp1 NA18989.hp1 NA19010.hp1 NA19030.hp1 NA19057.hp2 NA19066.hp1 NA19074.hp1 NA20752.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0010 a0013 a0020 a0024 a0029 a0030	a0001c0002 a0001c0005 a0001c0016 others(17): Show a0001c0002 a0001c0005 a0001c0016 a0001c0067 a0002c0001 a0002c0009 a0002c0052 a0003c0004 a0004c0003 a0006c0032 a0006c0034 a0007c0014 a0007c0058 a0008c0006 a0010c0012 a0013c0011 a0020c0062 a0024c0036 a0029c0041 a0030c0029	a0001c0002t0001 a0001c0002t0015 a0001c0005t0001 others(24): Show a0001c0002t0001 a0001c0002t0015 a0001c0005t0001 a0001c0016t0001 a0001c0067t0001 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0004 a0002c0001t0006 a0002c0001t0018 a0002c0009t0001 a0002c0052t0001 a0003c0004t0002 a0004c0003t0001 a0006c0032t0001 a0006c0034t0001 a0007c0014t0002 a0007c0058t0005 a0008c0006t0001 a0008c0006t0004 a0010c0012t0001 a0013c0011t0001 a0020c0062t0014 a0024c0036t0001 a0029c0041t0001 a0030c0029t0001	a0001c0002t0001g0007 a0001c0002t0001g0035 a0001c0002t0001g0142 others(32): Show a0001c0002t0001g0007 a0001c0002t0001g0035 a0001c0002t0001g0142 a0001c0002t0015g0038 a0001c0005t0001g0015 a0001c0016t0001g0061 a0001c0067t0001g0037 a0002c0001t0001g0052 a0002c0001t0002g0059 a0002c0001t0002g0101 a0002c0001t0002g0112 a0002c0001t0002g0143 a0002c0001t0002g0144 a0002c0001t0002g0147 a0002c0001t0003g0118 a0002c0001t0003g0119 a0002c0001t0004g0014 a0002c0001t0006g0084 a0002c0001t0018g0120 a0002c0009t0001g0041 a0002c0052t0001g0125 a0003c0004t0002g0053 a0004c0003t0001g0126 a0006c0032t0001g0030 a0006c0034t0001g0009 a0007c0014t0002g0054 a0007c0058t0005g0080 a0008c0006t0001g0097 a0008c0006t0004g0141 a0010c0012t0001g0022 a0013c0011t0001g0121 a0020c0062t0014g0131 a0024c0036t0001g0140 a0029c0041t0001g0006 a0030c0029t0001g0124	35	150	0.2333	-692	c.293 others(17): Show c.293-3260_293-2569del	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MZT1_chr13_72703367_72732629	72725474	TCACATGA others(685): Show TCACATGACTTAAAGGGAGGTTCACAAATGCTACCATTGAGGGGAGAAAT GGTATTCAAAAAGTTTTGAAAATTTTATTTTTGATCTCACGGGTTGATTT AAATACTGTGTAACACCACATCCCCTCTCCTTCATTTTTTGTTTTACTTC ACTTTTTTGTGTTCTTACTCTCTTTATAATCTTCATTTCACACCAAGTTT TCTCAGAAGAGATCTTGATGATGCAGCCAACACAAACCATCAGTTCTCAA TTGTACATCAGTGATTCCACCAGAGAAAATGTGAGTTTTCTGTTCAAATG GGATCCTGTGGCCATATACATAAGGAACCTAAGTACAGCTAACCTAAGAA AATAGGCTAGAAGTGAGGTCTTATACTCTACCTTTTTCCAAGGAAATATA CAAGACAGTAAATTTATATTTATATACACACACATATATATATTCATACA TAAATCCACTTACAAAATAAAACTATTAAGTGTTGATACATCGAAAAGGA TAGAAAAATAAGCTGAATATTAAGAGTAACATTCTCAGAAAAACAGCAAG GTAGATACTGAACAAGTGAAAAATTAGATGCAAAGGCTCTAAAAGTGTAA TTCTTTGAAAAGAAAACCAGGACCAGTGCAGAAAAAGCCAGCAGCCCCTC TGCAAGTGCTACATAAGAAAATGAGGCCGGGCATGGTGGCTCA	T T	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02071.hp2 HG02132.hp2 others(7): Show HG02027.hp1 HG02071.hp2 HG02132.hp2 NA18965.hp2 NA18989.hp2 NA18990.hp2 NA19000.hp1 NA19012.hp2 NA19064.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0178 others(5): Show a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0235 a0001c0001t0008g0179 a0001c0001t0008g0234	10	382	0.0262	-692	c.79+ others(15): Show c.79+1358_79+2049del	MZT1	ENSG00000204899.6	transcript	ENST00000377818.4	protein_coding	1/2			chr13	TogoVar
NTM_chr11_131365615_132341822	132070207	AACTGACC others(685): Show AACTGACCATCACAGGTTAGTTAACACGTCACACAGCCAAAACACGTCAA ACTGACCATCACAGGTTAGTTAACGTGTCACACAGCCAAGTTAACACGTC AAACTGACGATCACAGGTTAGTTTACACGTCACACAGCCAAAACACGTCA AACTGACCATCACAGGTTAGTTAACACGTCACACAGCCAAGTAAGTTAAC ACGTCAAACTGACCGTCACAGGTTAGTTAACACGTCACACAGCCAAGTTA ACACATCACACAGCCAAGTTAACACGTCAAACTGACCGTCACAGGTTAGT TAACACGTCACACAGCCAAGTTAACACGTCAAACTGACCGTCACAGTTTA GTTAACACGTCACACAGCCAAGTTAACACGTCAAACTGACCATCACAGGT TAGTTAACACATCACACAGCCAAAACACGTCAAACTGACCACCACAGGTT AGTTAACACGTCACACAGCCAAGTTAACACGTCAAACTGACCATCACAGG TTAGTTAACACGTCACACAGCCAAGTTAACACGTCAAACTGACCGTCACA GGTTAGTTAACACGTCACTCACCCAGGTTAACACGTCACACTGACCGTCA CAGGTTAGTTAACACGTCACACAGCCAAGTTAACACGTCACACTGACCAT CACAGGTTAGTTAACACGTCACTCAGCCAAGTTAACACGTCAC	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00741.hp1 HG01884.hp2 others(5): Show HG00558.hp2 HG00741.hp1 HG01884.hp2 HG02922.hp1 HG03710.hp1 HG04184.hp1 HG04228.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0002t0001 a0002c0003t0006	a0001c0001t0001g0074 a0001c0001t0002g0022 a0001c0001t0003g0032 others(5): Show a0001c0001t0001g0074 a0001c0001t0002g0022 a0001c0001t0003g0032 a0001c0001t0003g0056 a0001c0001t0007g0007 a0001c0002t0001g0027 a0001c0002t0001g0075 a0002c0003t0006g0011	8	85	0.0941	-692	c.168 others(19): Show c.168-76067_168-75376del	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
RHOBTB2_chr8_22994548_23025199	23012965	AGCTAATT others(685): Show AGCTAATTTTTGTAATTTGAGATGGGGTTTTGCCATGTTGGCCAGGCTGG TCTTGAACTCCTGACCTCAAGTGATCCACCCACCTTGGCCTCCCAAAGTG CTGGGATTACAGGCGTGAGCCACCACACCCGGCCTAATTTTTAAATTTTT TGCAGAGATGAGGTCTCACTGTGTTGCCTGGACTGGTCTTAAACTCCAGC CTCAAGTGATCCTCCCATCTCGGCTTCCCAAAGTGCTGTGATTACAGGCG TGGGCCACCAAGCCTGGCCTAGTTTAATGAATTATTATAAAGAAAATGCC TTTCTACTCATGACCTATGTCAGGAACTAGAACCTTGCTGGCCACCAGAA GTCCTCCACCTCTCCCTCCTCTCTCACAGACCCCTCTCTCCTCCCTAAGA GGAAGCCCTTTGCCTAGTATTCCTTTTTTTATGGCACTTTTTATGGGCAT ACTGCCTTACTTTCCTTTATAGTTTTATCATCCAAGTGTGTGTCATTAAA CACTACAGCATGGTTTTTTGCATTATTTTTTACTTTTATTTTTTATTTTT GGAGATGGAGTCTTACTGTCACCTGGGCTGGAGTATAGTGATGTGATCTC GGCTCACTGAAACTTTCACCTCCCAGGTTCAGGAGATTCTCATGCCTCAG TCGCCCGAGTAGCTGGGATTACAGGCACGTACCAACACACCCG	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02723.hp1 HG02818.hp2 others(6): Show HG01192.hp2 HG02723.hp1 HG02818.hp2 HG03098.hp1 HG03130.hp1 HG03225.hp1 HG03453.hp2 HG03579.hp2 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0006 a0001c0003t0012 a0001c0007t0006 a0001c0003t0006 a0001c0003t0012 a0001c0007t0006	a0001c0003t0006g0009 a0001c0003t0012g0025 a0001c0007t0006g0009 a0001c0003t0006g0009 a0001c0003t0012g0025 a0001c0007t0006g0009	9	356	0.0253	-692	c.177 others(19): Show c.1772-1711_1772-1020del	RHOBTB2	ENSG00000008853.18	transcript	ENST00000251822.7	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr8	TogoVar
RPH3AL_chr17_207389_357807	287544	ACCTCGCA others(685): Show ACCTCGCACCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTC AGACCTCACACCCTCTCTCCACCGTCAGACCTCACACCCTCTCTCCACCG TCAGACCTCGCACCCTCTCTCTCCACCGTCAGAGCTCGCACCCTCTCTCT CCACCGTCAGACCTCGCACCCTCTCTCTCCACCGACAGACCTCGCACCCT CTCTCTCCACCGACAGACCTCGCACTCTCTCTCCACCGACAGACCTCGCA CGCTCTCTCTCCACCGTCAGACCTCACACTCTCTCTCCACCGTCAGACCT CACTCCCTCTCTCCACCGACAGACCTCACACTCTCTCTCCACCGACAGAG CTCACACTCTCTCTCCACCGTCAGACCTCACTCTCTCTCTCCACCGTCAG ACCTCCCACCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCG TCAGACCTCACACCCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCCAC CGTCAGACCTCACTCCGTCTCTCCACCGTCAGACCTCGCACCCTCTCTCT CCACCGTCAGACCTCACACCCTCTCTCCACCGTCAGACCTCACTCCCTCT CTCCACCGTCAGACCTCACTCCCTCTCTCCACCGTCAGACCTCGCACCCT CTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG01243.hp1 others(11): Show HG00099.hp1 HG00140.hp1 HG01243.hp1 HG01515.hp2 HG01884.hp2 HG02165.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02976.hp2 HG03453.hp1 NA18522.hp1 NA20905.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0004c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0014 a0001c0001t0031 a0001c0002t0003 a0001c0002t0029 a0001c0003t0001 a0001c0003t0002 a0004c0013t0003	a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0085 others(11): Show a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0085 a0001c0001t0001g0119 a0001c0001t0002g0069 a0001c0001t0006g0095 a0001c0001t0014g0106 a0001c0001t0031g0067 a0001c0002t0003g0090 a0001c0002t0029g0103 a0001c0003t0001g0068 a0001c0003t0001g0075 a0001c0003t0002g0059 a0004c0013t0003g0036	14	132	0.1061	-692	c.352 others(17): Show c.352-6382_352-5691del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
ALMS1_chr2_73380836_73614916	73491612	GGTTGTGT others(684): Show GGTTGTGTCTGGCTAATTACTAGAAGTCTTTCAAGGAATAAATGTGTTAA GTAAGAGAGAACATGTGACAGTAATGCATTTATATTTCAGAGGGCTTTTG GCAAGACTTGACATCAAGTGTTTTTAAAAATTGAATGACCTTGAAAAGAA TCTTTGATCATCCAATGATACAATTACGAATTTATTTACTGTGTTGGACA TATGCTGAAGATCTCCTTTGGAGGTTGCACACACATACATGGGTGCTTGG TCACTCTCTCTCCCGCTCTCCCTCTCTCTCTCTCTTCTCCAGCTCTCTGG TTCCATTTCATGACTTCCCTCAAATATTTAGTATTTACAAAGAAAGTGGC TTTACAGTGGAAAATCCTGGCAGATACCAGTTTAGTCAAATGATGAAGAT TAGCATCGCCAGTAAAACATCTGTCAACATAATGTGCTCCCTGATATGAT GCCCCACCTCATAGAGTATTGTAGGAAAGGAAACCCAATTCAGGGATAAG TTCGTTAGATTTATATTATTCAGCCCAATTTTAGCACATTGCCATTAATT CAGTTTTACTTAATGAGCCTCTTATGATATGGTGAAGCAGAACTACCTGT ATGTTTAGTATTTTACCTTATAGTTGAAGAGGCATCGTACCACAGTGGAG AGCGCTAGGCTTGGAAAGGAGGAAGAAAGAAATGTTTATTCA	G G	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18956.hp2 NA18944.hp1 NA18956.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0029 a0003c0002t0001g0030 a0003c0002t0001g0029 a0003c0002t0001g0030	2	246	0.0081	-691	c.953 others(17): Show c.9539+115_9539+805del	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	10/22			chr2	TogoVar
ARHGEF10_chr8_1818926_1963641	1888039	GGGTTGTT others(684): Show GGGTTGTTAGGAGACAGTGAGTGGGATGAGGGTTTATGAGGAGACACTAG GTAGGGTGAATGTTTTGAGGAGACACTTAGTGGGGTGAGGGTTTGCGAGG AGACACTTAGTGGGGCGAGGGTTGCGAGGAGACAGTGAGTGGGGTGAGGG TTTGCGAGGAGACACTTAGTGGGGCGAGGGTTGCGAGGAGACAGTGAGTG TGGTGAGGGTTGCGAGGAGATGCTGAGTGGGGCTGTAGGTTCTGAGGAGG GGTGGGGTGAGGGTTTGTGAGGATATGCTGAGTGGGATGTTGACTGTGAG GAGACACTGAGTGGGGTGAGGGTTGTGAGGAGATACTGAGGTGATAGTTT TGAGGAGACAGTGGGGTGAGAGTTGTGAGGAGACACTGAGTGTGGAGGGC TGTGAGGAGGCACTGAGTGGGGTGAGGGGTATTGAGGAGACACTGAGTGG GGTAAGAAGTCTGTGGAGATACTGAGTGGGGTGAGGGGTCTGTGAGGAGA CGCTGAGTGGGGTGAGGTATGGGGAGACACTGAGTGGGGTGTGAGGGGTC TGTGAGGTGTCACTGAGTGTGGTGAGGTTTGTGAGGAAACACAGAGTGTG GTAAGGGTCCTGAGGAAACACTGAGTTGGGTGAGGGTTTGTGAGGAGACA CTGAATAGGGTGAGGTTTGTGAGGAGACACTGAATAGGGTGA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01496.hp1 HG02486.hp1 others(22): Show HG00597.hp1 HG01496.hp1 HG02486.hp1 HG02559.hp1 HG02738.hp2 HG02922.hp1 HG03098.hp1 HG03540.hp1 HG04184.hp1 NA18522.hp1 NA18612.hp1 NA18939.hp2 NA18949.hp2 NA18952.hp2 NA18959.hp1 NA18962.hp2 NA18964.hp2 NA18983.hp2 NA19009.hp2 NA19058.hp1 NA19065.hp2 NA19074.hp2 NA19080.hp2 NA19084.hp2 NA19085.hp2	a0001 a0004 a0006 others(1): Show a0001 a0004 a0006 a0022	a0001c0001 a0001c0002 a0001c0003 others(17): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0008 a0001c0009 a0001c0012 a0001c0018 a0001c0020 a0001c0021 a0001c0026 a0001c0085 a0001c0092 a0001c0096 a0001c0111 a0001c0143 a0004c0051 a0006c0134 a0022c0142	a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 others(19): Show a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0005t0001 a0001c0006t0039 a0001c0008t0002 a0001c0009t0002 a0001c0012t0008 a0001c0018t0009 a0001c0018t0025 a0001c0020t0009 a0001c0020t0016 a0001c0021t0004 a0001c0026t0007 a0001c0085t0001 a0001c0092t0011 a0001c0096t0033 a0001c0111t0013 a0001c0143t0001 a0004c0051t0004 a0006c0134t0004 a0022c0142t0007	a0001c0001t0003g0109 a0001c0002t0001g0053 a0001c0002t0001g0071 others(22): Show a0001c0001t0003g0109 a0001c0002t0001g0053 a0001c0002t0001g0071 a0001c0002t0001g0341 a0001c0003t0001g0030 a0001c0005t0001g0080 a0001c0006t0039g0160 a0001c0008t0002g0036 a0001c0009t0002g0029 a0001c0012t0008g0348 a0001c0018t0009g0287 a0001c0018t0025g0297 a0001c0020t0009g0288 a0001c0020t0009g0316 a0001c0020t0016g0308 a0001c0021t0004g0312 a0001c0026t0007g0307 a0001c0085t0001g0207 a0001c0092t0011g0180 a0001c0096t0033g0132 a0001c0111t0013g0138 a0001c0143t0001g0028 a0004c0051t0004g0285 a0006c0134t0004g0313 a0022c0142t0007g0311	25	360	0.0694	-691	c.118 others(19): Show c.1182+2337_1182+3027del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
FOXQ1_chr6_1307098_1319758	1319067	TGGTGGCG others(684): Show TGGTGGCGCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGG ATCACCTGAGTTAGGAAGTTCAAGACTAGCCTGACCAACATGGAGAAACC CCGTCACTACTAAAAATACAAAATTAGCCGGGCATGGTGGCGCACGCCTG TAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGTTAGGA AGTTCAAGACTAGCCTGACCAACATGGAGAAACCCCGTCACTACTAAAAA TACAAAATTAGCCGGGCGCGGTGGCGCACGCCTGTAATCCCAGCACTTTG GGAGGCCAAGGCGGGTGGATCACCTGAGTTAGGAAGTTCAAGACTAGCCT GACCAACATGGAGAAACCCCGTCACTACTAAAAATACAAAATTAGCCGGG CAGCGGTGGCGCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGG TGGATCACCTGAGTTAGGAAGTTCAAGACTAGCCTGACCAACATGGAGAA ACCCCGTCACTACTAAAAATACAAAATTAGCCGGGCGCGGTGGCGCACGC CTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGTTA GGAAGTTCAAGACTAGCCTGACCAACATGGAGAAACCCCGTCACTACTAA AAATACAAAATTAGCCGGGCAGCGGTGGCGCACGCCTGTAAT	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG02723.hp2 HG00140.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	2	350	0.0057	-691	c.51 others(11): Show c.5152_*5842del	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		4310		chr6	TogoVar
GCNT3_chr15_59606783_59627723	59610148	TGCCTGCC others(684): Show TGCCTGCCTGCCTGCCTGCCTGCCTGCCTGCCTGCCTGCCTGCCTGCCTG CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCCTCCCTCCCTCCCTCCTTCCTTCACTCCTTCCTTCCTT CCTGTGAATAAGCAGTGTGGGGCTTGCTTGCTTGCTTTGAGTAAGTAGTG TGGGCTTTCTTTCTTTCCTTCTTTCTCTTTCTTTTTCTCTTTCTCTCTCC CTCCTCCCTCCCTCCTCCCTCCCTCCTCCCTCCCTCCTTCATTCCCTCCA TCCATCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTC CTTCTCTCCCTCCCTCCTTCCGTCCCTCCTTCCTTCCCTCCTTCCTTCCC TCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCCTC CCTCCTTCCTTCCCTCCCTCCATCCCTCCCTCCTTCCCTCTCTCCATCCC TCCCTCCTTCCTTCCTTCCCTCCCTCTTTCCTTCCCTCCTTCCCTCTTTC CCTCCTTCCTTCCTTCCCTCTCTCCCTCCTTCTTTCCTTCCCTCTCTCCC TCCTTCCCTCCTTACCTCCCTCCTTCCTTCCTTTCCTCCTTTCTTTTCTT CCTTTTCTCTTCTTCTCTTTCTCTCTCCCCCTCCCTCCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0001 a0001c0001t0038g0001	1	426	0.0023	-691	c.-20 others(11): Show c.-2083_-1393del	GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding		1634		chr15	TogoVar
MIER2_chr19_300573_349796	332431	TGCTGGGA others(684): Show TGCTGGGATTACAGGCGCCTGCTACCACGCCCGGCTAATTTTTGTATTTT TAGTAGAGACGGGGTTTCACCATGTTGGCCAGCCTGATCTAGAACTCCTG ACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAAG CATGAGCCACCGCGCCCAACAATTTTTGTATTTTTAGTACAGACAGGGTT TCACTACGTTGGCCAGGCTAGGCTCAAACTCCTGACCTCATGATCCGCCT ACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCG GCCAATTTACATGTCAGTTTTAACTTTTCATGTAATAAAAAAGCAATAGA TAAAGCACATTAACAAAGCTCCTTGAAACTCTAATTTTTTTTAATTTTTT TTTTTGAGACAGGGTCTCACTCTGTCGCCCAGGCTGGAGTGCAATGGCGT GATCTCGGCTCACCGCAACCTCCGCCTCCCAGGTTCAAGGGATTCTCCTG CCTCAGCCTCCCGAGTAGCTGGGACTATAGACGTGCACCACCACGCCTGG CTAATTTTGTATTCTTTTTTTTCTTTTTTGGAGACGGAGTCTCGCTGTGT CACCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCCGT CTCCCGGGTTCACGTCATTCTCCCGCCTCAGCCTCCCGAGTA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02486.hp1 HG03209.hp1 others(3): Show HG01891.hp1 HG02486.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0013 a0001c0005t0002g0129 a0001c0005t0002g0130 others(2): Show a0001c0005t0002g0013 a0001c0005t0002g0129 a0001c0005t0002g0130 a0001c0005t0002g0131 a0001c0005t0002g0132	6	382	0.0157	-691	c.243 others(17): Show c.243+1278_243+1968del	MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding	3/13			chr19	TogoVar
MLPH_chr2_237482251_237560322	237543097	GACAGTGG others(684): Show GACAGTGGTGAGTGGGGGTACAGTGGTGAGTGGGCACAGTAGTGAGTAGG GGGACAGTGGTGAATGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTG GGGGCACAGTGGTGAGTTGGGGGACAGTGGTGAGTGGGCACAGTAGTGAG TAGGGGGACAGTGGTGAATGGGGGACAGTGGTGAATGGGGGACAGTGGTG AGTGGGGGACAGTGGTGAGTGGGGGCACAGTGGTGAGTTGGGGGACAGTG GTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGGAACAG TGGTGAGTGGGGGACAGTAGTGAGTGGGGGACAGTGGTGAGTGGGGACAG TGGTGAGTTGGGGGACAGTGGTGAGTGGGGGCACGGTAGTGACTGGGGCG ACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGG GGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGG GAGGACAGTGGTGAGTGGGGGACAGTAGTGAGTGGGGGACAGTGGTGAGT GGGGACAGTGGTGAGTGGGGGCACGGTAGTGACTGGGGCGACAGTGGTGA GTGGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGGGACAGTGGT GAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGA	G G	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0088 a0002c0002t0002g0088	1	271	0.0037	-691	c.153 others(18): Show c.1539+439_1539+1129del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15			chr2	TogoVar
NR2C2_chr3_14942583_15054273	14971156	CGCCCAGG others(684): Show CGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTTTGC CTCCTGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGGTGGGAT TACAGGCACCCACCATCATGCCCTGCTAATTTTTGTATTTTTAGTAGAGA TGGGGTTTCACCATGTTGGCCAAGCTGGTCTCAAACTCCTGACCCCAGGT GATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCA CCGTGCCTAGTCTTACATGCATTTTTGACTTAATGACATTTTCAACTTAC AATGGTTTATCAGGACATAACCTCATCATAAAGAGCATCTGTATACCCAG AAGTGGAATTGCTGGATCTTAGGTTTCTACATTTGATTTTTGAGAAACTG CTATATTGTTTTCCACAGCGGCTGCAACCATGTTACATTCTTACCAGCAG TGCACAAGGGTTCTAGTTTCTCCACATCCTCAACAACACGTTATTTGTTG TTTTGTTTTTTGATAAAAGCTACCCTAATGGATGTAAAGTGATATTTGAT TGTGGTTTTGACTTGCACTTCCCTAATGATTAGTGATGTTGAACAGCTTT TCTTTTTTTGTTGTTGTTCACATTAAAAAATTAATTTACCTAAATTTCTT TTTTCTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02809.hp2 HG02896.hp1 others(3): Show HG02055.hp1 HG02809.hp2 HG02896.hp1 HG02897.hp2 HG03225.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0029 a0001c0001t0030 a0001c0001t0012 a0001c0001t0029 a0001c0001t0030	a0001c0001t0012g0076 a0001c0001t0012g0281 a0001c0001t0012g0282 others(3): Show a0001c0001t0012g0076 a0001c0001t0012g0281 a0001c0001t0012g0282 a0001c0001t0012g0297 a0001c0001t0029g0296 a0001c0001t0030g0077	6	306	0.0196	-691	c.-40 others(19): Show c.-40+23268_-40+23958del	NR2C2	ENSG00000177463.16	transcript	ENST00000425241.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
AFDN_chr6_167821911_167977023	167940707	ATGTGTGG others(683): Show ATGTGTGGACAGACACAGAGGGATGTAGGGGTGAGGGTGGAAGCCATCCA CAGGAGACGTGTGGACAGACACAGAGGGATGTAGGGGTGAGGGTGGAAAC CATCCACAGGAGAGATGTGTGGACAGACACAGAGGGATGTAGGGGTGAGG GTGGAAGCCATCCACAGGAGACATATGGACAGACACAGAGAGATGTAGGG GTGAGGGTGGAAACCATCCACAGGAGAGATGTGTGGACAGACACAGAGGG ATGTAGGGGTGAGGGTGGAAACCATCCACAGGAGAGATGTGTGGACAGAC ACAGAGGGATGTAGGGATGAGGGTGGAAACCATCCACAGGAGAGGTGTGT GGACAGACACAGAGGGATGTAGGGATGAGGGTGGAAACCATCCACAGGAG AGATGTGGACAGACACAGAGGGATGTAGGGGTGAGGGTGGAAACCATCCA CAGGAGAGATGTGTGGACAGACACAGAGGGATGTAGGGATGAGGGTGGAA ACCATCCACAGGAGAGGTGTGTGGACAGACACAGAGGGATGTAGGGATGA GGGTGGAAACCATCCACAGGAGAGATGTGGACAGACACAGAGGGATGTAG GGGTGAGGGTGGAAACCATCCACAGGAGAGATGTGTGGACAGACACAGAG GGATGTAGGGGTGAGGGTGGAAACCATCCACAGGAGAGGTG	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0199 a0001c0005t0008g0200 a0001c0005t0008g0199 a0001c0005t0008g0200	2	323	0.0062	-690	c.310 others(19): Show c.3100-2417_3100-1728del	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	23/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAMSAP3_chr19_7590863_7623304	7599448	TCCATCCA others(683): Show TCCATCCACCCACCCACCCACCCACCCCACTCATCCATCCACCCACGCAC TCATCCATCCACCCATCCATCCACCCACTCATCCATCCTTCCACCCACCC ATTCATTCATCCATCCATCCATCCATCCATCCATCCATCCACCCACCCAC CTACTCACCGCACTCATCCATCCACCCACCCCACTCATCCATCCACCCAC CCACCCACCCCACTCATCCATCCACCCACCCCACTCATCCATCCACCCAC GCACTCATCCACCCACACACTCATCCATCCACCCACCCCACTCATCCATC CAACCACGCACTCATCCATCCACCCACTCATCCACCCGCCCATCCATCCA CCCGCCCATCCATCCACCCACCCACCCACCCATCCACCCACCCACCTACC CACCCACACACTCTCCCACCCACCCATCCACCTATCCACCCATCCATCCA CCCACCCATCCACCCATCCATCCATCCACCCACCCACCAACTCATCCACC TACCCACCCACCCACTCATCCACCCACCCACCCATCCACCCATCCATCCA CCCGCCCACTCATCCATCCACCCGCCCACTCATCCATCCACCCGCCCACT CATCCATCCACCCGCCCATCCATCCATCCACCCACCCATCCATCCACCTA CCCACACTCCCACCCAGCCATCCACCCACCCACCCTCCCAC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG01069.hp1 others(11): Show HG00438.hp2 HG00558.hp2 HG01069.hp1 HG01099.hp2 HG01123.hp1 HG01261.hp1 HG01928.hp2 HG01943.hp2 HG02004.hp2 HG02132.hp1 HG02300.hp1 NA18951.hp1 NA18984.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0207 a0001c0001t0001g0208 others(11): Show a0001c0001t0001g0068 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0293	14	356	0.0393	-690	c.148 others(17): Show c.148+3317_148+4006del	CAMSAP3	ENSG00000076826.10	transcript	ENST00000160298.9	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
DHRSX_chrX_2214506_2505976	2280848	AGAGGGAG others(683): Show AGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGAT GGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAG GAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGG AGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGAAGAGGAGGAAA TGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGG GAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGA GAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAG GGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAG AGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGA AGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAG GGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAA TGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGG GCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGA GAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAAC	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0013 a0003c0003t0013	a0003c0003t0013g0002 a0003c0003t0013g0002	1	48	0.0208	-690	c.388 others(18): Show c.388+9964_388+10653del	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6			chrX	TogoVar
EXOC3_chr5_438176_472290	467442	AGAGGGCG others(683): Show AGAGGGCGCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCAGCCTAGAG GGTGCCTTCCTGATCCCCTCATGTCTGACATCCCCTCAGCCTGGAGGGCG CCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCAGCCTGGATGGCGCCCT CCTGGTCCCCTCCTGTCTGACATCCCCTCAGCCTAGAGGGCGCCCTCCTG GTCCCCTCCTGTCTGACATCCCCTCAGCCTGGATGGCGCCCTCCTGGTCC CCTCCTGTCTGACATCCCCTCAGCCTAGAGGGTGCCCTCCTGATCCCCTC ATGTCTGACATCCCCTCAGCCTGGATGGCGCCCTCCTGGTCCCCTCCTGT CTGACATCCCCTCAGCCTAGAGGGTGCCCTCCTGGTCCCCTCATGTCTGA CATCCCCTCAGCCTAGAGGGCGCCCTCCTGATCCCCTCATGTCTGACATC CCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCGTATCTGACATCCCCT CAGCCTGGAGGGCGCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCAGC CTGGAGGGCGCCCTCCTGATCCCCTCCTGTCTGACATCCCCTCAGCCTGG AGGGCGCCCTCCTGGTCCCCTCGTATCTGACATCCCCTCAGCCTGGAGGG CGCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCAGCCTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0110 a0001c0001t0009g0110	1	367	0.0027	-690	c.54 others(10): Show c.545_*1234del	EXOC3	ENSG00000180104.16	transcript	ENST00000512944.6	protein_coding		153		chr5	TogoVar
EXOC3_chr5_438176_472290	467606	GTCTGACA others(683): Show GTCTGACATCCCCTCAGCCTAGAGGGCGCCCTCCTGGTCCCCTCCTGTCT GACATCCCCTCAGCCTGGATGGCGCCCTCCTGGTCCCCTCCTGTCTGACA TCCCCTCAGCCTAGAGGGTGCCCTCCTGATCCCCTCATGTCTGACATCCC CTCAGCCTGGATGGCGCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCA GCCTAGAGGGTGCCCTCCTGGTCCCCTCATGTCTGACATCCCCTCAGCCT AGAGGGCGCCCTCCTGATCCCCTCATGTCTGACATCCCCTCAGCCTGGAG GGCGCCCTCCTGGTCCCCTCGTATCTGACATCCCCTCAGCCTGGAGGGCG CCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCAGCCTGGAGGGCGCCCT CCTGATCCCCTCCTGTCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTG GTCCCCTCGTATCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCC CCTCCTGTCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGATCCCCTC CTGTCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCGTAT CTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCGTATCTGA CATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCGTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp1 others(177): Show HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp1 HG00642.hp1 HG00738.hp2 HG00741.hp1 HG01074.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp2 HG01978.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02698.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp2 NA18968.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18978.hp2 NA18980.hp1 NA18983.hp1 NA18986.hp1 NA18990.hp1 NA18991.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19005.hp2 NA19007.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19059.hp1 NA19062.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19074.hp2 NA19077.hp2 NA19084.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA21309.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0007 a0001c0010 others(3): Show a0001c0001 a0001c0007 a0001c0010 a0001c0013 a0003c0011 a0005c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0007t0001 a0001c0010t0001 a0001c0013t0001 a0003c0011t0001 a0005c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(94): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0002g0126 a0001c0001t0002g0160 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0004g0001 a0001c0001t0004g0010 a0001c0001t0004g0140 a0001c0001t0007g0003 a0001c0001t0007g0134 a0001c0001t0014g0141 a0001c0001t0015g0001 a0001c0001t0016g0001 a0001c0007t0001g0001 a0001c0007t0001g0142 a0001c0010t0001g0001 a0001c0013t0001g0007 a0003c0011t0001g0007 a0005c0012t0001g0046	180	416	0.4327	-690	c.70 others(10): Show c.709_*1398del	EXOC3	ENSG00000180104.16	transcript	ENST00000512944.6	protein_coding		317		chr5	TogoVar
KCNG2_chr18_79792938_79905100	79886409	CGGGACAG others(683): Show CGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACAGGGACAC GGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATG GGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGG GGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTG GGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAG GGACGTGGGGACAGGGACATGGGGACACAAGACAGGGAGATGGGGATGGG AACATAGGGACGTGGGGACAGGGACACGGGACAGGGAGATGGGGATGGGA ACATAGGGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGG GATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACACGGGACAGGG AGATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACACGG GACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACAGGGACATGGG GACACAAGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACAGGG ACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGG GACAGGGACATGGGGACACGGGACAGGGACATAGGGCCATA	C C	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0195 a0002c0002t0001g0195	1	310	0.0032	-690	c.625 others(19): Show c.625-12620_625-11931del	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
PPP1R12C_chr19_55085918_55122637	55093348	CCCAGCCC others(683): Show CCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCTCCAGCCCCTCCT CCCTCAGACCCAGGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGG AGTCCAGACCTCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCA GCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCTCCAGCCCCTCCTCCCT CAGACCCAGGAGCCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTC CAGACCTCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGACCCCAGCCC CTCCTCCCTCAGACCCAGGAGCCCAGGCCCCAGCCCCTCCTCCCTCAGAC CCAGGAGCCCAGACCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGC CCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGACCCCAGCCCCTCCTC CCTCAGACCCAGGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGA GTCCAGACCTCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGACCCCAG CCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGCCCCTCCTCCCTCA GACCCAGGAGCCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCA GGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02809.hp1 HG01243.hp1 HG02809.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0003 a0001c0003t0001 a0001c0003t0003	a0001c0003t0001g0100 a0001c0003t0003g0081 a0001c0003t0001g0100 a0001c0003t0003g0081	2	386	0.0052	-690	c.168 others(17): Show c.1683+307_1684-116del	PPP1R12C	ENSG00000125503.13	transcript	ENST00000263433.8	protein_coding	13/21			chr19	TogoVar
SLC9A3_chr5_465456_529449	467442	AGAGGGCG others(683): Show AGAGGGCGCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCAGCCTAGAG GGTGCCTTCCTGATCCCCTCATGTCTGACATCCCCTCAGCCTGGAGGGCG CCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCAGCCTGGATGGCGCCCT CCTGGTCCCCTCCTGTCTGACATCCCCTCAGCCTAGAGGGCGCCCTCCTG GTCCCCTCCTGTCTGACATCCCCTCAGCCTGGATGGCGCCCTCCTGGTCC CCTCCTGTCTGACATCCCCTCAGCCTAGAGGGTGCCCTCCTGATCCCCTC ATGTCTGACATCCCCTCAGCCTGGATGGCGCCCTCCTGGTCCCCTCCTGT CTGACATCCCCTCAGCCTAGAGGGTGCCCTCCTGGTCCCCTCATGTCTGA CATCCCCTCAGCCTAGAGGGCGCCCTCCTGATCCCCTCATGTCTGACATC CCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCGTATCTGACATCCCCT CAGCCTGGAGGGCGCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCAGC CTGGAGGGCGCCCTCCTGATCCCCTCCTGTCTGACATCCCCTCAGCCTGG AGGGCGCCCTCCTGGTCCCCTCGTATCTGACATCCCCTCAGCCTGGAGGG CGCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCAGCCTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0091 a0001c0001t0004g0091	1	197	0.0051	-690	c.52 others(11): Show c.5247_*5936del	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding		3013		chr5	TogoVar
SLC9A3_chr5_465456_529449	467606	GTCTGACA others(683): Show GTCTGACATCCCCTCAGCCTAGAGGGCGCCCTCCTGGTCCCCTCCTGTCT GACATCCCCTCAGCCTGGATGGCGCCCTCCTGGTCCCCTCCTGTCTGACA TCCCCTCAGCCTAGAGGGTGCCCTCCTGATCCCCTCATGTCTGACATCCC CTCAGCCTGGATGGCGCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCA GCCTAGAGGGTGCCCTCCTGGTCCCCTCATGTCTGACATCCCCTCAGCCT AGAGGGCGCCCTCCTGATCCCCTCATGTCTGACATCCCCTCAGCCTGGAG GGCGCCCTCCTGGTCCCCTCGTATCTGACATCCCCTCAGCCTGGAGGGCG CCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCAGCCTGGAGGGCGCCCT CCTGATCCCCTCCTGTCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTG GTCCCCTCGTATCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCC CCTCCTGTCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGATCCCCTC CTGTCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCGTAT CTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCGTATCTGA CATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCGTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00408.hp1 others(110): Show HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00558.hp1 HG00597.hp2 HG00642.hp1 HG01074.hp2 HG01099.hp1 HG01109.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp2 HG01517.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG04199.hp1 HG04199.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18944.hp2 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp2 NA18954.hp2 NA18963.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp1 NA18983.hp2 NA18986.hp1 NA18990.hp1 NA19000.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp2 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19074.hp1 NA19085.hp2 NA19088.hp1 NA20129.hp2 NA20300.hp1	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0009	a0001c0001 a0001c0007 a0001c0008 others(9): Show a0001c0001 a0001c0007 a0001c0008 a0001c0020 a0001c0021 a0001c0024 a0001c0025 a0001c0028 a0001c0031 a0003c0014 a0007c0022 a0009c0017	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(23): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0017 a0001c0001t0023 a0001c0001t0024 a0001c0001t0027 a0001c0001t0030 a0001c0001t0033 a0001c0007t0001 a0001c0007t0005 a0001c0008t0001 a0001c0008t0005 a0001c0008t0018 a0001c0020t0004 a0001c0021t0032 a0001c0024t0004 a0001c0025t0001 a0001c0028t0011 a0001c0031t0004 a0003c0014t0001 a0007c0022t0005 a0009c0017t0004	a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0014 others(110): Show a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0004g0010 a0001c0001t0004g0013 a0001c0001t0004g0027 a0001c0001t0004g0055 a0001c0001t0004g0084 a0001c0001t0004g0086 a0001c0001t0004g0089 a0001c0001t0004g0129 a0001c0001t0004g0130 a0001c0001t0004g0138 a0001c0001t0005g0166 a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0180 a0001c0001t0005g0181 a0001c0001t0005g0184 a0001c0001t0005g0185 a0001c0001t0005g0190 a0001c0001t0005g0205 a0001c0001t0010g0062 a0001c0001t0010g0105 a0001c0001t0010g0106 a0001c0001t0011g0116 a0001c0001t0011g0154 a0001c0001t0014g0060 a0001c0001t0014g0061 a0001c0001t0017g0003 a0001c0001t0023g0074 a0001c0001t0024g0119 a0001c0001t0027g0144 a0001c0001t0030g0169 a0001c0001t0033g0188 a0001c0007t0001g0043 a0001c0007t0005g0187 a0001c0008t0001g0158 a0001c0008t0005g0208 a0001c0008t0005g0216 a0001c0008t0018g0124 a0001c0020t0004g0102 a0001c0021t0032g0204 a0001c0024t0004g0140 a0001c0025t0001g0083 a0001c0028t0011g0085 a0001c0031t0004g0159 a0003c0014t0001g0160 a0003c0014t0001g0162 a0007c0022t0005g0210 a0009c0017t0004g0123	113	216	0.5231	-690	c.50 others(11): Show c.5083_*5772del	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding		2849		chr5	TogoVar
ADGRA1_chr10_133082924_133136675	133135986	GGGGTCTC others(682): Show GGGGTCTCTGGGTCCCTGTGGGGGGGTCTGGTCTCTGGGTACCTGTGGGG GCAGCTGGTCTCTGGGTCCCTGTGGGGGGGTTCTGGTCTCTGGGTCCCTG TGGGGGCGGCTTGTCTCTGGGTCTCTGTGGGGGGGTCTGGTCTCTGGGTC CCTGTGGAGGCGGCTGGTCTCTGGGTCCCTGTAGGGGTTCTGGTCTCTGG GTCCCTGTGGGCGGGTCTGGTCTCTGGGTCTGTTGGGGGGGTCTGGTCTC TGGGTCCCTGTGGGGGGGGTCTGGTCTCTGGGTCCCTGTGGTGGGGGGGG GTCTCTGGGTCCCTGTGGGGGCGGCTGGTCTCTGGGTCCCTGTGGGGGTG TCTGGTCTCTGGGTCCCTGTGGTGGGGGGGGTCTCTGGGTCCCTGTTGGG GGGTCTGGTCTCTGGGTCCCTGTAGGGGTTCTGGTCGCTGGGTCCCTGTA GGCGGGTCTGGTCTCTGGGTCCCTGTGGGGGGGTTCTGGTCTCTGGGTCC CTGTGGGGGTGTCTGGTCTCTGGGTCCCTGTGGTGGGGGGGGTCTCTGGG TCCCTGTTGGGGGGTCTGGTCTCTGGGTCCCTGTAGGGGTTCTGGTCTCT GGGTCCCTGTGGGCGGGTCTGGTCTCTGGGTCCCTTTGGGGGGGTCCTGG TCTCTGGGTCCCTGTGGGGGCGGCTGGTCTCTGGGTCCCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00735.hp2 others(34): Show HG00280.hp1 HG00323.hp2 HG00735.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG02109.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02451.hp2 HG02486.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02886.hp2 HG02970.hp1 HG02976.hp1 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03490.hp2 HG03492.hp1 HG03540.hp1 HG03710.hp2 HG06807.hp1 NA19043.hp1 NA19240.hp1 NA20300.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0010 others(1): Show a0001c0001 a0001c0003 a0001c0010 a0002c0005	a0001c0001t0005 a0001c0001t0011 a0001c0001t0018 others(7): Show a0001c0001t0005 a0001c0001t0011 a0001c0001t0018 a0001c0001t0021 a0001c0001t0023 a0001c0001t0027 a0001c0001t0033 a0001c0003t0043 a0001c0010t0011 a0002c0005t0005	a0001c0001t0005g0002 a0001c0001t0005g0011 a0001c0001t0005g0039 others(30): Show a0001c0001t0005g0002 a0001c0001t0005g0011 a0001c0001t0005g0039 a0001c0001t0005g0057 a0001c0001t0005g0058 a0001c0001t0005g0102 a0001c0001t0005g0139 a0001c0001t0005g0147 a0001c0001t0005g0148 a0001c0001t0005g0196 a0001c0001t0005g0197 a0001c0001t0005g0205 a0001c0001t0005g0351 a0001c0001t0011g0013 a0001c0001t0011g0037 a0001c0001t0011g0255 a0001c0001t0018g0326 a0001c0001t0018g0328 a0001c0001t0018g0333 a0001c0001t0021g0272 a0001c0001t0021g0291 a0001c0001t0023g0104 a0001c0001t0023g0262 a0001c0001t0023g0263 a0001c0001t0027g0024 a0001c0001t0027g0028 a0001c0001t0033g0012 a0001c0003t0043g0027 a0001c0010t0011g0049 a0001c0010t0011g0050 a0002c0005t0005g0259 a0002c0005t0005g0260 a0002c0005t0005g0261	37	329	0.1125	-689	c.64 others(11): Show c.6476_*7164del	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding		4312		chr10	TogoVar
BRF1_chr14_105204286_105306001	105276819	CGAGAGGC others(682): Show CGAGAGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGG AGCCGAGAGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGA AGGAGCCGAGAGGGGGCCCTCACTAGGGAGCTGGGGAGGAGGCCACAGTG AGAAGGAGCTGAGAGGGGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACA GTGAGAAGGAGCCGAGAGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCC ACAGTGAGAAGGAGCCGAGAGGCGGCCCTCACTAGAGAGCTGGGGAGGAG GCCACAGTGAGAAGGAGCCGAGAGGGGGCCCTCACTAGGGAGCTGGGGAG GAGGCCACAGTGAGAAGGAGCTGAGAGGGGGCCCTCACTAGAGAGCTGGG GAGGAGGCCACAGTGAGAAGGAGCTGAGAGGGGGCCCTCACTAGAGAGCT GGGGAGGAGGCCACAGTGAGAAGGAGCCGAGAGGCGGCCCTCACTAGAGA GCTGGGGAGGAGGCCACAGTGAGAAGGAGCTGAGAGGGGGCCCTCACTAG AGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCCGAGAGGCGGCCCTCAC TAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCTGAGAGGGGGCCCT CACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02622.hp1 HG03471.hp1 HG02258.hp1 HG02622.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0001 a0001c0001t0002 a0001c0001t0010	a0001c0001t0001g0046 a0001c0001t0002g0035 a0001c0001t0010g0002 a0001c0001t0001g0046 a0001c0001t0002g0035 a0001c0001t0010g0002	3	58	0.0517	-689	c.266 others(17): Show c.266-4614_266-3926del	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
C1R_chr12_7075219_7097445	7083650	GNNNNNNN others(682): Show GNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN	G G	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02132.hp1 NA18997.hp2 HG02056.hp2 HG02132.hp1 NA18997.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0003c0009 a0002c0002 a0003c0003 a0003c0009	a0002c0002t0001 a0003c0003t0001 a0003c0009t0002 a0002c0002t0001 a0003c0003t0001 a0003c0009t0002	a0002c0002t0001g0005 a0003c0003t0001g0023 a0003c0009t0002g0126 a0002c0002t0001g0005 a0003c0003t0001g0023 a0003c0009t0002g0126	3	15	0.2000	-689	c.127 others(19): Show c.1273+1522_1274-1545del	C1R	ENSG00000159403.18	transcript	ENST00000647956.2	protein_coding	9/10			chr12	TogoVar
C17orf99_chr17_78141385_78171297	78157427	GGCAGATG others(681): Show GGCAGATGATTTGGACTTCGAGACAGGAGATGCAGGGCCTCAGCGACCTT CCCAATGCAGTCCTCAGCATTGTGTAAAAATGACTTTGTAGGCCGGGCGC GGTGGCTCACGCCCGTAATCCCATCACTTTGGAAGACCGAGGCAGGCGGA TCACAAGGTCAGGAGATCGAAACCATCCTGGCTAAAATGGTGAAACCCCG TCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTA GTCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATGGCGTAAACCCGGGAG GCAGAGCTTGCGGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCG ACAGAGCGTGACTCTGTCTCGGAAAAAAAAAAAAAAAAAAAAAAAAAAGA ATGGCTTTGTGGTACTCAAAGGCCGGCCACGTAAGATCGTCGAGATGTCT ACTTCGATGACTGGCAAGCACGGCCATGCCAAGGTCCACCTGGTTGGTAC TGACATCTTTACTGGGAAGAAATATGGAGATATCTGCCTGTCAACTCATA ACATGGATGTCCCCAGCATCAAAAGGAATGACTTCCAGCTGATTGGCATC CAGGATGGGCACCTATCACTGCTCCAGGACAGCATGGAGGTGCGAGAGGA CTTTCGTCTGCATGAGGGAGACCTTGGCAAAGAGACTGA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03130.hp2 HG02723.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0139 a0001c0001t0004g0140 a0001c0001t0004g0139 a0001c0001t0004g0140	2	444	0.0045	-688	c.71- others(15): Show c.71-3522_71-2835del	C17orf99	ENSG00000187997.12	transcript	ENST00000340363.10	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr17	TogoVar
CDH4_chr20_61247261_61945617	61783763	TAGTTCCT others(681): Show TAGTTCCTCGGGACAGTTCTCGAGGCCCTCAGGTGTCTTGTGCCCCCAAG AGAAATGTAATCCCAGTTCCTCGGGACAGTTCTCAAGGCCCTCAGATGTC CTGTGCCCCCAAGAGAAATGTAATCCCAGTTCCTTGGGACAGTTCTCAAG GCCCTCCGATATCCTGTGCCCCCAGGAGAATGTAAGCCCAGTTCCTCGGG ACAGTTCTCGAGGCCCTCAGGTGTCTTGTGCCCCCAGGAGAATGTAAGCC CAGTTCCTTGGGACAGTTCTCGAGGCCCTCAGGTGTCTTGTGCCCCCAAG AGAAATGTAATCCCAGTTCCTCGGGACAGTTCTCAAGGCCCTCAGATGTC CTGTGCCCCCAAGAGAAATGTAATCCCAGTTCCTTGGGACAGTTCTCAAG GCCCTCCGATATCCTGTGCCCCCAGGAGAATGTAAGCCCAGTTCCTCGGG ACAGTTCTCGAGGCCCTCAGGTGTCTTGTGCCCCCAGGAGAATGTAAGCC CAGTTCCTTGGGACAGTTCTCGAGGCCCTCAGGTGTCTTGTGCCCCCAAG AGAAATGTAATCCCAGTTCCTCGGGACAGTTCTCAAGGCCCTCCGATATC CTGTGCCCCCAGGAGAATGTAATCCCAGTTCCTCGGGACAGTTCTCGAGG CCCTCAGATGTCCTGTGCCCCCAAGAGAAATGTAATCCC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0003 a0002c0008t0003	a0002c0008t0003g0041 a0002c0008t0003g0041	1	99	0.0101	-688	c.576 others(19): Show c.576+10602_576+11289del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
FGF12_chr3_192134390_192732541	192404985	CTAGTTGA others(681): Show CTAGTTGATGTTACTTTCTGCTGTGTTGCAAGGAAGGTAGGAAAAAAAGT CAACTGAATCTAGTTCTAGTCTCAATTTTGACAAAACCTAGTTGTGTAAC CTTAGATAAATTACAAACTTGCAATGGCTCCAGGATTTCTCATCTACAAA GACAGAGATTTTGCTGCACAAAAAGGATCCAATGTGCACCCTGGCCCTGA AACTGTGTGATGTGAGGCCATACCTAGTCATTTCCCATGTTTTCATTCTG TGTTACTGTCATTTTAAATCTGAGCCCTTTGCCATGATAATTTCAGGATC CCCACTGTATTTATACAGCTTCAATACTACACATATCAGAACTTGGTTAG CTAAGAAAAAAGAGAAGGAGAGATACTCAATGTGTCAGCCCTGAAATCAG AAATACAACCGTGGCCTTTCCCATCAAACACTTGCCTTAGATTCACTTCC TAAGCCTCACTCCCCTAGAAAGTCTGGTCAATGGAACATGTGTCTCAGTG ACAGAAATTCAGAGTGGAAATTCTTTATCAGGACAAATTATTCCACTTCA CCACTTTACCATTTGTGAGTTACTTTGTTAGTTCACAATGATATGGCTTA GGAAGGCTAGTGGTTTCAAGAATCAGTCAAATATTAAGTGAATACAACAT CAAAGTGATTATAAAACAGATTCGAATAGTTTTTCTTTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02559.hp2 HG03139.hp1 others(3): Show HG02145.hp2 HG02559.hp2 HG03139.hp1 HG03195.hp2 NA18522.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0013 others(3): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0013 a0001c0001t0018 a0001c0001t0022 a0001c0001t0035	a0001c0001t0003g0073 a0001c0001t0005g0075 a0001c0001t0013g0036 others(3): Show a0001c0001t0003g0073 a0001c0001t0005g0075 a0001c0001t0013g0036 a0001c0001t0018g0025 a0001c0001t0022g0016 a0001c0001t0035g0040	6	90	0.0667	-688	c.14- others(17): Show c.14-45135_14-44448del	FGF12	ENSG00000114279.15	transcript	ENST00000445105.7	protein_coding	2/5			chr3	TogoVar
GRXCR1_chr4_42887713_43035658	42903148	TGGCTTTA others(681): Show TGGCTTTATAGTACAGTTTTACACATGTTTTATTTAAAATAATATTAGAA AATCTACTACAAAGATAACACAAATCAACCAATGATACTTACTAAGGATG CCACCTCTCTTTCTAACTACACAGAAAACCAAATAAAAAATTTGGGCCAC AGCTTTGTAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTAGACGGAGTCT CTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAAGCTCT GCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCACCCACCACCACGCCAGGCTAATTTTTTGTATTTTTTAGTA GAAATGGGGTTTAACCATGTTAGCCAGGATGGTCTCTATCTCCAGACCTT GTGATCCGCCCGCCTTGGCCTCCCAGAGTGCTGGGATAGATATTCTTAAT CACAGCTTTCAAGGCTCTTCCTCTAATTATGGAATTTCCCTTTTCATACA TTTATATATGCCCCTTCCCATTTTTCTTTTTTCCCCTAAATTTGCGCTTG CTTCAGCATTTTCCAAGGCCAATGTTTCCTGCTTCAGCTACTCAATTACA AGCTGATTTTTTTTCAGGGAATATTTTTTATATTTCCATGAAGAATTTCT GGAGATGAAATTATACTTGCCCCTCCCAAAAGGCCTTGG	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00544.hp1 others(64): Show HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp1 HG00673.hp2 HG01070.hp2 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG02015.hp2 HG02027.hp2 HG02083.hp1 HG02155.hp1 HG02165.hp1 HG02273.hp1 HG02293.hp2 HG02738.hp1 HG03486.hp1 HG03490.hp1 HG03688.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp2 HG04228.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18948.hp2 NA18955.hp2 NA18957.hp1 NA18959.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18977.hp1 NA18979.hp1 NA18984.hp2 NA18985.hp1 NA18993.hp1 NA18997.hp2 NA18998.hp2 NA19002.hp1 NA19004.hp1 NA19009.hp2 NA19011.hp2 NA19054.hp2 NA19058.hp2 NA19064.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19076.hp2 NA19083.hp2 NA19085.hp1 NA19087.hp2 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0007 a0002c0002t0001 a0002c0002t0002 a0002c0002t0007	a0002c0002t0001g0005 a0002c0002t0001g0210 a0002c0002t0001g0212 others(63): Show a0002c0002t0001g0005 a0002c0002t0001g0210 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0259 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0271 a0002c0002t0001g0273 a0002c0002t0001g0274 a0002c0002t0001g0275 a0002c0002t0002g0211 a0002c0002t0002g0215 a0002c0002t0002g0221 a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0002g0250 a0002c0002t0002g0251 a0002c0002t0002g0258 a0002c0002t0002g0260 a0002c0002t0002g0264 a0002c0002t0002g0265 a0002c0002t0007g0222	67	336	0.1994	-688	c.384 others(18): Show c.384+9499_384+10186del	GRXCR1	ENSG00000215203.3	transcript	ENST00000399770.3	protein_coding	1/3			chr4	TogoVar
MYOM2_chr8_2040046_2150456	2085493	TCACTGTT others(681): Show TCACTGTTGTGATCTCCGCGTGGCCCCCCACTGTTGTGATCTCTGCGTGG CCCCACTGTCATGATCTCTGCGTGGCCCCACTGTTGTGATCTCTGCGTGG CCCCACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGT GGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTGC GTGGCCCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTTGTGATCT CTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCTACTGTCGTG ATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTGCGTGGCCCCACTGTCG TGATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACA GTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCA CTGTCGTGATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCC CCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTG GCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCTACTGTCGTGATCTCTG CGTGGCCCCCCACTGTTGTGATCTCTTTGTGGCCCCCCACTGTCGTGATC TCTGCGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCC	T T	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0015 a0015	a0015c0026 a0015c0026	a0015c0026t0001 a0015c0026t0001	a0015c0026t0001g0375 a0015c0026t0001g0375	1	376	0.0027	-688	c.164 others(17): Show c.1644+110_1644+797del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085542	GCCCCACT others(681): Show GCCCCACTGTCATGATCTCTGCGTGGCCCCACTGTTGTGATCTCTGCGTG GCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTG TGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTG CGTGGCCCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTTGTGATC TCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCTACTGTCGT GATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTGCGTGGCCCCACTGTC GTGATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCAC AGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCC ACTGTCGTGATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCC CCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGT GGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCTACTGTCGTGATCTCT GCGTGGCCCCCCACTGTTGTGATCTCTTTGTGGCCCCCCACTGTCGTGAT CTCTGCGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCACTGTCATG ATCTCTGCGTGGCCCCACTGTCATGATCTCTTTGTGGCC	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01993.hp2 HG01081.hp2 HG01993.hp2	a0001 a0046 a0001 a0046	a0001c0009 a0046c0087 a0001c0009 a0046c0087	a0001c0009t0001 a0046c0087t0002 a0001c0009t0001 a0046c0087t0002	a0001c0009t0001g0205 a0046c0087t0002g0230 a0001c0009t0001g0205 a0046c0087t0002g0230	2	382	0.0052	-688	c.164 others(17): Show c.1644+162_1644+849del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
PPP1R12C_chr19_55085918_55122637	55093420	CCCCAGCC others(681): Show CCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCTCCAGCCCCTCC TCCCTCAGACCCAGGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAG GAGTCCAGACCTCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCC AGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCTCCAGCCCCTCCTCCC TCAGACCCAGGAGCCCAGACCCCAGCCCCTCCTCCCTCAGACCCAGGAGC CCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGACCCCAGCCC CTCCTCCCTCAGACCCAGGAGCCCAGGCCCCAGCCCCTCCTCCCTCAGAC CCAGGAGCCCAGACCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGC CCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCTCCAGCCCCTCCT CCCTCAGACCCAGGAGCCCAGACCCCAGCCCCTCCTCCCTCAGACCCAGG AGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCAG CCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGCCCCTCCTCCCTCA GACCCAGGAGTCCAGACCTCCAGCCCCTCCTCCCTCAGACCCAGGAGTCC AGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGG	C C	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0077 a0001c0003t0001g0077	1	193	0.0052	-688	c.168 others(17): Show c.1683+237_1684-188del	PPP1R12C	ENSG00000125503.13	transcript	ENST00000263433.8	protein_coding	13/21			chr19	TogoVar
SLC31A2_chr9_113146007_113169140	113147205	AGTATTTG others(681): Show AGTATTTGTAAATTTGCTGTCGTCAGCTGGATGGGACATGGATGGCTGTT TTTCAAACCTGTTTACCCTGCAAATGTGGGGCAGTCTGAGCATTGGCCTT CCAAGCTCAGTGCAGCATTGTTGGAGAAACCAGGGCCCCTCAGTCTTCCT GCAGGAGGCAGGCATGCAGGGCCTGGGAGTCCCGGGCAGCTGGAGTAGAC AACCTTGCAGCAGCTGTGAAAGGAACCTGTCAAGACAACTGAGGTAAAGA GCCTATACCTGTGAATTCTCAGGGGTGTTTCCCTCCTCAGCCCTGGCTTC AACAGTGAAGGGATCCTCACAGCACTTACCTTCCCTGCAAAGCTAAAACA AACCATTGCTTTCTTCTCAGCTGTCCAGAGGCCTGCTGTTTGCTCTGGTT TGGCTCAAAGCCCTTCCAGACAGTCAGGAAAGTTATAAATGTGGATGACC CCTACAATTGGCTGGATAATGGCCCTAAAAATTATCCAGGTCCTGATGGT CGGAACCTGTGAATGTTATCTGGCAAAAGAGACTTTGCGCACGTGATTAA ATTAAGGATCTTGAAATGGGGACATAACCCTGGATTATCTGATGGGTCCT AGATGTAATCATAAGGATCTTTAAAAGAGGGAGGCAGCCAGGCGTGGTGG CTCATATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 NA18950.hp2 NA18966.hp1 others(5): Show HG02083.hp1 NA18950.hp2 NA18966.hp1 NA18967.hp1 NA18975.hp2 NA18989.hp1 NA19055.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	8	456	0.0175	-688	c.-38 others(11): Show c.-3869_-3182del	SLC31A2	ENSG00000136867.11	transcript	ENST00000259392.8	protein_coding		3801		chr9	TogoVar
SLC66A2_chr18_79897420_79956653	79920799	TGAGGAGA others(681): Show TGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACA GGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGA GAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGT CAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGA GACAGGAACCGAGGGAGAGGTCAAGCTCAGTGAGGAGAGACAGGAACCGA GGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAA GCTCAGTGGGGAGAGATGGAACCGAGTGAGAGGTCAAGGTCAGTGGGGAG AGACAGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACGGGAACC GAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTC AAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGTGAG GAGAGACAGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGA ACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAG GTCAAGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGGTCAGT GAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAG	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0228 a0001c0001t0002g0228	1	318	0.0031	-688	c.392 others(17): Show c.392-2087_392-1400del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
TMEM163_chr2_134450759_134724000	134524327	TGTTTTTT others(681): Show TGTTTTTTAATATCGATAACATTTAATGCTGTAATTGAGAGCTTGGGTTT TTAAAATTTTAAGTTCTGGGATACATGCGCAGGACGTGCAAGTTTGTTAC ATAGGTAACATGTGCCATGGTGGTTTGCTGCACCCATCAACACATCACCT AGGTATTAAGCCCCACATGCATTTGCTATTTATCCTGATGCCCTCCCCCT TTCACCCCCTACCCATAGGCCCCAGTGTGTGTTCTTCCCCTCCCTGTGTC CATGTGTTCTCACTGTTCAGCTCCCACTTATGAGAACATGTGGTGTTCGG CTTTGTTCCTATGTCAGTTTGCTGAGGATGATGGCTTCCAGTTCCATCCA TGTCCCTGCAAAGGACATGATCTCATTCCTTTTTATGGCTGCGTAGTATT CCATGGTATATATGTACCACATTTTCTTTATCCAGTCTATCATTGATGGG CATTTGGGTTGATTCCATGTCTTTGCTATTGTGAATAGTGCTGCAATGAA CATATACATGCATGTATGTTTATAATAGAATGATTTCTATTTCTTTGGGT ATATACCCAGTAATGGGATTGCTGTGTCAAATGGTATTTCTGGTTCTAGG TCTTTGAGGAATCACCACATTGCCTTCCACAATGGTTGAACTAATCTACG TTCCTACCAACAGTGTAATAGCGTTCCTATTTCTCCACA	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01106.hp2 HG02027.hp2 others(23): Show HG01099.hp2 HG01106.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02615.hp1 HG02622.hp2 HG02896.hp1 HG02897.hp1 HG03130.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03831.hp1 HG03942.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA18942.hp1 NA18952.hp1 NA18988.hp2 NA19000.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0002t0002	a0001c0001t0001g0012 a0001c0001t0001g0034 a0001c0001t0001g0052 others(23): Show a0001c0001t0001g0012 a0001c0001t0001g0034 a0001c0001t0001g0052 a0001c0001t0001g0058 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0128 a0001c0001t0001g0144 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0187 a0001c0001t0001g0207 a0001c0001t0002g0028 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0003g0036 a0001c0001t0003g0129 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0196 a0001c0001t0004g0053 a0001c0001t0006g0110 a0001c0002t0002g0038	26	220	0.1182	-688	c.459 others(19): Show c.459-22018_459-21331del	TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	4/7			chr2	TogoVar
CACNG7_chr19_53904278_53948950	53924363	TCCCCAGG others(680): Show TCCCCAGGTCTGGTCATTGGTGGAGTTGTCCCCAGGCCTGGTCATTGGTG GAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGTCCCAGGTCTGGTCATT GGTGGAGTTGTCCGAGGTCTGGTATTGGTGGAGTTGTCCCCAGGCCTGGT TATTGGTGGAGTTGCCCCAGGTCTGGTATTGGTGGAGTTGTCCGAGGTCT GGTATTGGTGGAGTTGCCCCAGGCTGGTCATTGGTGGAGTTGCCCAGGCT GGTCATTGGTGGACTTGCCCCAGGCTGGTCATTGGTGGAGTTGTCCGAGG TCTGGTATTGGTGGAGTTGCCCCAGGTCTGGTATTGGTGGAGTTGCCCCA GTTCTGGTATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGACTTGCC TAGGGCTGGTCATTGGTGGACTTGCCTAGTGCTGGTCATTGGTGGACTTG CCCCAGGTCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGA CTTGCCCCAGGCTGGTCATTGGTGTACTTGCCCCAGGTCTGGTCATTGGT GGAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGTCCCAGGCTGGTGATT GGTGGTGTTGTCCGAGGTCTGGTATTGGTGGAGTTGCCCCAGGTCTGGTA TTGGTGGACTTGCCTAGGGCTGGTCATTGGTGGACTTG	T T	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18998.hp1 NA18982.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0136 a0001c0001t0001g0127 a0001c0001t0001g0136	2	363	0.0055	-687	c.424 others(17): Show c.424+8886_424+9572del	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
FRAS1_chr4_78052323_78549269	78470797	AGGGACAA others(680): Show AGGGACAACTGTACCAGCATATGGGAAGGAGGAAACAGAAAGAGAGGGGC AAGGAACTCCATATTAAGCAAGTGATACAGAAATTGAATACATCCCTTGC ACTCATATTTATTGGCAATAAATTGTTCATATGGCCCAAATGTTGCATGG GAGGCTGGGAAATAGCATCTCTAGCTGGGCAGGCAGAGGCTCAGCTAAAA CATTGTTCACTAGAAGAAGGGGAGGGTGGATTTTGGAGAATATCGAGTGT CTACCATAAATGAGAAAGAAGCGGGGCATTTTTGTAGGTAAGTGTGCACA GATGAATTGTACTTTAGGCATTGCTTTCTCTTTCTCCTAATTTCGAAATT GGTCATTTTAAGATCTATGCCATAATTTTCACCTAGTAATCATGTCAAGC ACTAAATCCACATCCCCACCCAAACATAGTTCTTCAGTTGAGAACTGGTT TCTTGCATTTGTGGGTGGTATTCTTTCTAGGATGTGGCTTGTTTACCATC TCCATGGAGCTAATTAGTTCATTGTATGTGTAGATGTTGCACTATAGCTT CTAATTGAACTGGTTGGGTTTTAAAAAAAACAAACAAACATGAATTAAAG TTAGTGCCAATTTCCCCTGTGCTCTATTTGATCTTTTTTCCCCACCTTAT TTAGAGCAATTCCATTCTCTTCTCAATACTCTCCAATT	A A	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0146 a0001c0001t0010g0146	1	176	0.0057	-687	c.737 others(17): Show c.7371+710_7372-693del	FRAS1	ENSG00000138759.20	transcript	ENST00000512123.4	protein_coding	51/73		INFO_REALIGN_3_PRIME	chr4	TogoVar
RGS12_chr4_3288021_3444913	3309154	GGGGAACC others(680): Show GGGGAACCGTGTTGAGGAGGAGCTGGGACTCGGGAATGGCAGGTGTCTGC TGAGGGGAACCGTGTTGAGGAGGAGCTGGGACTCGGGAATGGCAGGTGTC TGCTGAGGGGAACCGTGTTGAGGAGGAGCTGGGACTCGGGAATGGCAGGT GTCTGCTGAGGAGAACCGGGTGGGAGAGGAGCTGGGATCCGGGAATGGCA GGTGTCCGCTGAGGGGAACCGTGCAGGGGAGGAGCTGGGACCCTGGAATG GCAGGTGTCCGCTGAGGGGAACCGTGCAGGGGAGGAGCTGGGACCCAGGA ATGGCAGGTGTCCGCTGAGGGGAACCGTGTGGGGGAGGAGCTGGGACCCG GGAAATGGCAGGTGTCCTCTGAGGAGAGCTGAGCAGGAGAGGAGCTGGGG CCTGGGAATGGCAGGTGTCTGCTGAGGGGAACTGTGTTGAGGAGGAGCTG GGACCTGGGAATGGCAGGTGTCCGCTGAGGGGAACCGTGTGGGGGAGGAG CTGGGACCCTGGAATGGCAGGTGTCCGCTGAGGGGAACCGTGCAGGGGAG GAGCTGGGACCTGGGAATGGCAGGTGTCCTCTGAGGAGAGCTGAGCAGGA GAGGAGCTGGGACTCGGGAATGGCAGGTGTCTGCTGAGGGGAACCGTGTT GAGGAGGAGCTGGGACTTGGGAATGGCAGGTGTCTGCT	G G	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0002 a0006c0015t0002	a0006c0015t0002g0097 a0006c0015t0002g0097	1	310	0.0032	-687	c.-10 others(19): Show c.-101-6914_-101-6228del	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC66A2_chr18_79897420_79956653	79920570	GAGGAGAG others(680): Show GAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACA GGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGA GAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTC AGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAG ACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAG GGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAG GTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGA GAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACC GAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGT CAAGCTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGA GGAGAGACAGGAACCGAGTGAGAGGTCAAGCTCAGTGGGGAGAGATGGAA CCGAGTGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGG TCAGGGTCAGAGGAGGAGAGACGGGAACCGAGGGAGAGGTCAAGGTCAGT GAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGT	G G	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02683.hp2 HG01255.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0190 a0001c0001t0005g0238 a0001c0001t0005g0190 a0001c0001t0005g0238	2	347	0.0058	-687	c.392 others(17): Show c.392-1857_392-1171del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
AFDN_chr6_167821911_167977023	167940595	GTGTGGAC others(679): Show GTGTGGACAGACACAGAGGGATGTAGGGGTGAGGGTGGAAGCCATCCACA GGAGACATGTGGACAGACACAGAGGGATGTAGGTGTGAGGGTGGAAACCA TCCACAGGAGAGATGTGTGGACAGACACAGAGGGATGTAGGGGTGAGGGT GGAAGCCATCCACAGGAGACGTGTGGACAGACACAGAGGGATGTAGGGGT GAGGGTGGAAACCATCCACAGGAGAGATGTGTGGACAGACACAGAGGGAT GTAGGGGTGAGGGTGGAAGCCATCCACAGGAGACATATGGACAGACACAG AGAGATGTAGGGGTGAGGGTGGAAACCATCCACAGGAGAGATGTGTGGAC AGACACAGAGGGATGTAGGGGTGAGGGTGGAAACCATCCACAGGAGAGAT GTGTGGACAGACACAGAGGGATGTAGGGATGAGGGTGGAAACCATCCACA GGAGAGGTGTGTGGACAGACACAGAGGGATGTAGGGATGAGGGTGGAAAC CATCCACAGGAGAGATGTGGACAGACACAGAGGGATGTAGGGGTGAGGGT GGAAACCATCCACAGGAGAGATGTGTGGACAGACACAGAGGGATGTAGGG ATGAGGGTGGAAACCATCCACAGGAGAGGTGTGTGGACAGACACAGAGGG ATGTAGGGATGAGGGTGGAAACCATCCACAGGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02630.hp2 HG02622.hp1 HG02630.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0003 a0001c0011t0003	a0001c0011t0003g0276 a0001c0011t0003g0277 a0001c0011t0003g0276 a0001c0011t0003g0277	2	324	0.0062	-686	c.310 others(19): Show c.3100-2494_3100-1809del	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	23/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
DIP2C_chr10_269201_694668	321849	CTGTTAGA others(679): Show CTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGC TGTTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCT GTTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTG TTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGT TAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTT AGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTA GAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTAG AACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGA ACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAA CAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAAC AGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCAGTGTTGTTAGAACA GTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAG TCAGTCGGGGGTGCGGGGGTCCGGCGAGAGACCGGCGCTGTTAGAACAGT CAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCAGTGT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	60	0.0167	-686	c.392 others(19): Show c.3924+4471_3924+5156del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	321996	CTGTTAGA others(679): Show CTGTTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGC TGTTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCT GTTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTG TTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGT TAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTT AGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTA GAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTAG AACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCAGTGTTGTTAGA ACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAA CAGTCAGTCGGGGGTGCGGGGGTCCGGCGAGAGACCGGCGCTGTTAGAAC AGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCAGTGTTGTTAGAACA GTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAG TCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGT CAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCAGTGT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0005 a0001c0005t0001g0005	1	66	0.0152	-686	c.392 others(19): Show c.3924+4324_3924+5009del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
FGGY_chr1_59292094_59767730	59583302	GATTCTGA others(679): Show GATTCTGACTTCTCTGAAATGACATACATTCCTTGTCAATATTATGTCAG CGGAAAACTTGCTAGCCTTAGAAATAAAAATAAAGGTCTTATTTTTACAT TGACACTTTCAATCTAGGTAAACTTGAATAATTCATTTGATATTTCAGAG GCTTCATTTCTTCATCTAAGAACATGAGGATCTTTTCTATTTATGGAGGT ATCTTGAGGATTGGTTGAAGTAGTGAGCATGAAAGGTCTCTAGAAAACCT TGGTTGTTTAGACATGTTTTAGGGACATTGAAATGGACTGCGCATGGAGG AAGCTTCATGGGGGGCACACCTGAGGGGCATTTCCTCAATGGGAGAGCAC CTTTGCCCTTCACAACATTCACACACCCCTCCTGGGTATTGGTGCCAGGC TAGTGCCCTGATCTGAGTCCACCTCTGAACAGTCACCCTCACCAAGATAC CCCGAGCCAGGAGAGCCAGTGGAGCACATCTAAGCCAAAGATGTCAAAGA GAGTGAGGAGTGAGAGGTCCAAATTCAACTGGAGACCCTCAAGATGAGAC CTGTTTTGAATGAGAGAGAGATGACCGTGCAGGGTGGAAGCAGGTCTGAT GCAGCTGACAGCTAACCACTGCTGCTCGGAAGTGTCGACGGCTCACCACT TATGTGTTGGCTTTTGTTCCTGGACTACTCAGGTGGT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01255.hp2 HG01981.hp2 others(24): Show HG00140.hp2 HG01255.hp2 HG01981.hp2 HG02027.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02165.hp2 HG02257.hp2 HG02615.hp1 HG02738.hp2 HG03239.hp2 HG03453.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03831.hp2 HG03942.hp2 HG04199.hp1 NA18962.hp1 NA18965.hp1 NA18979.hp2 NA18982.hp2 NA18994.hp2 NA19057.hp2 NA19091.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(3): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004 a0003c0005 a0003c0014	a0001c0001t0001 a0001c0003t0001 a0001c0003t0003 others(6): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0003 a0002c0002t0001 a0002c0004t0001 a0002c0004t0002 a0003c0005t0001 a0003c0005t0002 a0003c0014t0003	a0001c0001t0001g0025 a0001c0001t0001g0134 a0001c0001t0001g0136 others(24): Show a0001c0001t0001g0025 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0150 a0001c0001t0001g0155 a0001c0003t0001g0119 a0001c0003t0001g0164 a0001c0003t0003g0010 a0002c0002t0001g0050 a0002c0002t0001g0058 a0002c0002t0001g0063 a0002c0002t0001g0070 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0100 a0002c0002t0001g0105 a0002c0002t0001g0117 a0002c0004t0001g0068 a0002c0004t0001g0069 a0002c0004t0002g0104 a0003c0005t0001g0042 a0003c0005t0002g0044 a0003c0014t0003g0015	27	164	0.1646	-686	c.904 others(19): Show c.904-24500_904-23815del	FGGY	ENSG00000172456.18	transcript	ENST00000303721.12	protein_coding	8/15			chr1	TogoVar
GALNT9_chr12_132191372_132334589	132223362	CNNNNNNN others(679): Show CNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN	C C	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0004 a0001c0013t0004	a0001c0013t0004g0095 a0001c0013t0004g0095	1	35	0.0286	-686	c.107 others(21): Show c.1078-20358_1078-19673del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
MYOM2_chr8_2040046_2150456	2085572	ACTGTTGT others(679): Show ACTGTTGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTGCGTGGCCCC CCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGG CCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTCGTGATCTCTTTGT GGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCT TTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGAT CTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTTGTG ATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGT CGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACT GTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCC CACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGC CCCCTACTGTCGTGATCTCTGCGTGGCCCCCCACTGTTGTGATCTCTTTG TGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTTGTGATCTC TGCGTGGCCCCACTGTCATGATCTCTGCGTGGCCCCACTGTCATGATCTC TTTGTGGCCCCCCACTGTTGTGATCTTTGCGTGGCCC	A A	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02273.hp1 HG02293.hp1 HG01934.hp2 HG02273.hp1 HG02293.hp1	a0003 a0020 a0003 a0020	a0003c0004 a0020c0058 a0003c0004 a0020c0058	a0003c0004t0001 a0020c0058t0001 a0003c0004t0001 a0020c0058t0001	a0003c0004t0001g0327 a0003c0004t0001g0328 a0020c0058t0001g0157 a0003c0004t0001g0327 a0003c0004t0001g0328 a0020c0058t0001g0157	3	386	0.0078	-686	c.164 others(17): Show c.1644+184_1644+869del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGAP42_chr11_100682288_100998941	100998256	CTGTTTAG others(678): Show CTGTTTAGTTGCAGAATCTCAGAACTTCTGAATCAGAATCTGCATGTTAA CAAGCTCCCCAGATGATATCTATAAACGATGAGGTTTAAGAAGCACAGGT TTAGCAGAACTATGAACGAGTTCTTTGGGGCTACCTGAGGGCAATTTTGA GATGTTTGAGGGCAAGATATGTCCAACTACTCCAAAAGCCAAAGATCACT GGGAGAAGTCACAACAATTGAGATTTAGGTTCAAAAACATAATTATATTG CCAAGTCTTCCACAAACGGAACTCAGGAAACAGCTTTCAATCACAGGCAG TGTTTGAGTGGGTCTAGATGACCGCTTGTCAAAATTTCACAGAGTAGAAA AATTCAGTAGGCATCTGAACGCATGAAAATTATTGTGCAGGACCTATTCA AGTCATTGGAGATCCTGAGAAACTTAGATATATTTCCTCTTTTCAAGAGA TCCATGGTTTATTGGGGTAACGTACAGATCAATAAAATATAATACTATAA AATGCTAAAAAGATTAAGCATTGGGTGTTTAAGAGCCTGAGATAGGGCAC TATTCTGAACCTGGGAAATAGCAGAAATGATGGAAAAGATAAGAGGATAC AAAGAAAGAAGTGTGGATGATTTTACCTGGGTGGATGGTGTTATCAGCCA ACCAAATTTTGGCAGAAGTGAAAGGCCAAAAGGAGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0021 a0002c0002t0021	a0002c0002t0021g0144 a0002c0002t0021g0144	1	284	0.0035	-685	c.94 others(12): Show c.9456_*10140del	ARHGAP42	ENSG00000165895.19	transcript	ENST00000298815.13	protein_coding		4316		chr11	TogoVar
DNAH12_chr3_57288700_57549344	57495311	CATTTTGG others(678): Show CATTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCACGAGTTCGAGA CCAGCATGGCCAACAGGTTGAAACCCCATGGCTACTAAAAATACAAAAAC ATTAGCTGGGCGTGGTCACGGGCACTTGTAATCCCAGCTACTAGGGAGGC TGAGGCAGGAGAATCACTTGAACTCCAGAGGTGGAGGTTTCAGGGAGCTG AGATAGTGCCACATTAGGACACAAAAAGTATTAACCTCACTCTAGCCTGG GCGACAAGAGTGAGACTCCATCTCAAAAAAATATACATATATTTACATAT TTTGTATATATTATATATATTTTTATGTATTTATATAATATATAAATATA TAAATATTTCTTTCAAAGTTGTTATACCATTTACAGTCTCACCAGATTAT ATCTGCTGGTGAGATTATATATAAATATATGAATATTTTTATATATTTAT ATATTATTTTATATATTTTTATATATTTATATATTTTTAATCCTTGATTT TATATATATTTATATATTTATATATATTTTAAACAATGTATTTATATATT TTATAAATATATATTTTTAAAATATATTTTTATATATAAATTTTATAAAT ATATTTCTATATTTATATATATTTTATACTATTTTATCTATTTATATATT TATATATTTTAATCCCTGATTTTATATATATTATAT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01891.hp1 HG02818.hp2 others(1): Show HG01255.hp2 HG01891.hp1 HG02818.hp2 HG02970.hp2	a0001 a0012 a0036 a0001 a0012 a0036	a0001c0001 a0012c0025 a0036c0093 a0001c0001 a0012c0025 a0036c0093	a0001c0001t0003 a0012c0025t0003 a0036c0093t0003 a0001c0001t0003 a0012c0025t0003 a0036c0093t0003	a0001c0001t0003g0001 a0001c0001t0003g0003 a0012c0025t0003g0004 others(1): Show a0001c0001t0003g0001 a0001c0001t0003g0003 a0012c0025t0003g0004 a0036c0093t0003g0002	4	264	0.0152	-685	c.133 others(19): Show c.1335+5325_1336-5625del	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	11/73			chr3	TogoVar
ERICH1_chr8_659200_736224	675485	CGGCGAGG others(678): Show CGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGG CCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGC GGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGA GACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGG ACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGT GAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCC TCGGCGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGC GGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGACG CGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAG AGGCGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGG ACAGAGACGCGGCGCCCCCCCGGCGAGGACAGAGACGCGGCGGCCCCTCG TGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCC CTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCG CCCCCTCGGCGAGGACAGAGACGCGGCGCCCCCTCG	C C	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	357	0.0028	-685	c.305 others(17): Show c.305-2123_305-1439del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
IDO2_chr8_39929651_40021392	39975224	GGCGTGAT others(678): Show GGCGTGATCTTGGCTCACTGAAAGCTCCACCTCCTGGGTTCACGCCATTC AACATTGGAGTATTTTTATGACATACTTGATATCCTTAAAACAGGACCTC TGTTCATCAAAACAGGCCAAAAGACAATGAAAGCCAAGCTACAAACTGAG AGAAGATATTGTCACACATATAAATGAAAAGAAGATTTGTATCCTGAATA TACAAAATCTTGTAAATTGATTGGAAAAACAACCAAATAAAAAACAATGT TCAACAGACATTTTGTGGAATAGAAGACACAAGTTCCCAATATATCATCT GAAAAATGCAAGCTATCATTAATAGTCAAGAAAATGAAAGTTAAAACCAT AATGGGATAGCATTTTATAACCATACAACTGAAAAATGCTTAAAGTCTGG CATGAACAGGTATTGGCAGGAATATAAAACACCTGAATCTTTTATTCACT GTGGGTACAACCTCTCTCAAAAACTGCTTGTCATTATCTGGCAATGTTGA AAATATAAATCCTATTAAGAACTTCCTTCTTGTCTATATAAATACCTTAG AGCTTCCTAGGCCTGTGTACCCTGAAAGGTATGAAAGTATCGTTTATCAT AGCAAAAAAACATAAAATAACTGTGAAAATAAATAAACTGCAGATGCATC CAGTAATGATGAATGTCAAAGCCATAATGGTGATGA	G G	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0005 a0005c0005t0005	a0005c0005t0005g0129 a0005c0005t0005g0129	1	358	0.0028	-685	c.196 others(17): Show c.196-3841_196-3157del	IDO2	ENSG00000188676.15	transcript	ENST00000502986.4	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
LMF1_chr16_848634_975984	859011	GCAGTGGT others(678): Show GCAGTGGTGTCACGGGACGGGTGTGAGTGATGTCACGGGACGGGTGTGAG TGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGA TGTCTCGGGACGGGTGTGCACTGATGTCACGGGACGGGTGTGCAGTGGTG TCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTC GGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCACGG GACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACG GGTGTGCAGTGTTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGG TGTGCAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGAGGGGTG TGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGA GTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTG TTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGATG TCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTC TCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCTCG GGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGC	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp1 HG02486.hp1 others(1): Show HG01884.hp1 HG02109.hp1 HG02486.hp1 HG02976.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0081 a0001c0006t0001g0286 a0001c0006t0001g0289 others(1): Show a0001c0006t0001g0081 a0001c0006t0001g0286 a0001c0006t0001g0289 a0001c0006t0001g0291	4	273	0.0147	-685	c.153 others(19): Show c.1530-4990_1530-4306del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
SLC66A2_chr18_79897420_79956653	79919884	GAGGAGAG others(678): Show GAGGAGAGACAGGAACCGAGTGAGAGGTCAAGGTCAGTGGGGAGAGACAG GAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGAG AGGTCAGGGTCAGTGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTC AGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGGTCAGTGGAGGAGAG ACAGGAACCGAGGGAGAGGTCAAGGTCAGTGGGGAGAGACGGAACCGAGG GAGAGGTCAGGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGG TCAGTGGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAG AGACGGAACCGAGGGAGAGGTCAGGGTCAGTGAGGAGAGACAGGAACCGA GGGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAA GGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAAGGTCAGTGGAGG AGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAAC CGAGGGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGT CAAGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGA GGAGAGACAGGAACCGAGTGAGAGGTCAAGGTCAGT	G G	intron_variant intron_variant	MODIFIER	HG02300.hp2 NA18966.hp1 NA18999.hp1 others(3): Show HG02300.hp2 NA18966.hp1 NA18999.hp1 NA19030.hp1 NA19054.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0004 a0001c0001t0010 a0001c0001t0017 others(1): Show a0001c0001t0004 a0001c0001t0010 a0001c0001t0017 a0001c0004t0008	a0001c0001t0004g0253 a0001c0001t0010g0168 a0001c0001t0017g0170 others(3): Show a0001c0001t0004g0253 a0001c0001t0010g0168 a0001c0001t0017g0170 a0001c0001t0017g0248 a0001c0001t0017g0254 a0001c0004t0008g0266	6	347	0.0173	-685	c.392 others(16): Show c.392-1169_392-485del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar

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