Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

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No_samplehapid

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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
SIGIRR_chr11_400716_419999	401786	ACCCCCGG others(141): Show ACCCCCGGCCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTC CACTGACCCCGGCCCCGCTCACCCCGGACCCCGCTCACCCCCGACCCCCG GCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCACCCCGGAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 NA18950.hp2 HG01934.hp1 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0181 a0001c0001t0001g0004 a0001c0001t0001g0181	2	242	0.0083	-148	c.39 others(11): Show c.3962_*4109del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3929		chr11	TogoVar
SLC12A7_chr5_1045384_1117063	1072220	GCCCCCAG others(141): Show GCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTAT GCAGCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCC AGTGAGCCCCCAGTGAGCCCCCAGCACACTGGCATCACACTTATGCAGC	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0034 a0002c0034	a0002c0034t0002 a0002c0034t0002	a0002c0034t0002g0091 a0002c0034t0002g0091	1	118	0.0085	-148	c.224 others(19): Show c.2241+1265_2241+1412del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1073025	CAGCCCCC others(141): Show CAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCC AGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCC CCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTG	C C	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	118	0.0085	-148	c.224 others(17): Show c.2241+460_2241+607del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC6A18_chr5_1220381_1251189	1238320	ATCAGGTT others(141): Show ATCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAG TGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGGGCC TCAGGAAAGAGGTCAGGTTTGGAGTGAGCTTGGGGCCTCAGGAAAGAGG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG04199.hp1 NA20905.hp2 HG00639.hp1 HG04199.hp1 NA20905.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0016 a0003c0004t0001g0391 a0003c0004t0001g0016 a0003c0004t0001g0391	3	456	0.0066	-148	c.732 others(15): Show c.732+275_732+422del	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SNTG2_chr2_945849_1372613	1012591	GCAGAGAG others(141): Show GCAGAGAGAAGGGTGGTCTGGAAAGGGATTTATAAGGACAGAGAGAAGGG TGGTCTGTAGAGGGATTTATAAGGGCAGAGAGAAGGGTGGTCTGGAGAAG GATTTATATGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATAAGGA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01074.hp1 HG01081.hp1 others(25): Show HG00140.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp2 HG01256.hp2 HG01257.hp1 HG01516.hp1 HG01517.hp1 HG01891.hp2 HG02148.hp1 HG02280.hp1 HG02559.hp2 HG02615.hp1 HG02630.hp1 HG02922.hp1 HG02922.hp2 HG03209.hp1 HG03209.hp2 HG03654.hp2 HG03831.hp1 HG04115.hp2 NA18969.hp2 NA19043.hp1 NA20905.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0007 a0017 a0022	a0001c0001 a0001c0002 a0002c0003 others(8): Show a0001c0001 a0001c0002 a0002c0003 a0002c0005 a0003c0007 a0003c0008 a0004c0004 a0005c0015 a0007c0016 a0017c0031 a0022c0021	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 others(9): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0002c0005t0001 a0003c0007t0001 a0003c0008t0001 a0004c0004t0001 a0004c0004t0002 a0005c0015t0001 a0007c0016t0001 a0017c0031t0001 a0022c0021t0001	a0001c0001t0001g0038 a0001c0001t0001g0056 a0001c0001t0001g0057 others(25): Show a0001c0001t0001g0038 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0102 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0002t0001g0112 a0001c0002t0001g0145 a0002c0003t0001g0052 a0002c0003t0001g0061 a0002c0003t0001g0129 a0002c0003t0001g0148 a0002c0003t0001g0154 a0002c0005t0001g0101 a0003c0007t0001g0104 a0003c0008t0001g0100 a0003c0008t0001g0130 a0003c0008t0001g0190 a0004c0004t0001g0180 a0004c0004t0001g0181 a0004c0004t0002g0074 a0005c0015t0001g0103 a0007c0016t0001g0005 a0017c0031t0001g0110 a0022c0021t0001g0111	28	190	0.1474	-148	c.72+ others(17): Show c.72+61545_72+61692del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1012911	AGGATTTA others(141): Show AGGATTTATATGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATAAGG GCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATATGGGCAGAGAGAAGGG TGGTCTGGAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGAG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0089 a0004c0004t0001g0089	1	190	0.0053	-148	c.72+ others(17): Show c.72+61913_72+62060del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1012981	TAGAGGGA others(141): Show TAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTAT ATGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCAGAGAGA AGGGTGGTCTGTAGAGGGATTTATAAGGGCAGAGAGAAGGGTGGTCTGG	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0133 a0001c0002t0001g0133	1	190	0.0053	-148	c.72+ others(17): Show c.72+61987_72+62134del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1013762	GGGATTTA others(141): Show GGGATTTATAAGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGG GCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATAAGGGCAGAGAGAAGGG TGGTCTGGAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGAA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0002 a0004c0014t0002	a0004c0014t0002g0001 a0004c0014t0002g0001	1	190	0.0053	-148	c.72+ others(17): Show c.72+62704_72+62851del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1013989	TTATATGG others(141): Show TTATATGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATATGGGCAGA GAGAAGGGTGGTCTGGAGAAGGATTTATATGGGCAGAGAGAAGGGTGGTC TGGAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGAAGGATC	T T	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0158 a0002c0003t0001g0158	1	190	0.0053	-148	c.72+ others(17): Show c.72+63023_72+63170del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX15_chr11_65022439_65045572	65030362	ATTTTTTT others(141): Show ATTTTTTTTTTTGTAGAGACAGAGTTTTGCCATGTTGCCCAGGCTGGTCT CAAACTCCTGGCCTCAAGCAATCCTCCCATTTTGGCCTTCCAAAGTGTTA GGATTACAGGCCACCATGACCCACCGTACCTGGCCTATAATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02970.hp2 HG03225.hp2 others(2): Show HG01243.hp2 HG02970.hp2 HG03225.hp2 HG03516.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0137 a0001c0001t0004g0138 a0001c0001t0004g0139 others(2): Show a0001c0001t0004g0137 a0001c0001t0004g0138 a0001c0001t0004g0139 a0001c0001t0004g0140 a0001c0001t0004g0148	5	338	0.0148	-148	c.100 others(17): Show c.100-1798_100-1651del	SNX15	ENSG00000110025.13	transcript	ENST00000377244.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
SSC5D_chr19_55483436_55524099	55508667	TGGGGGGA others(141): Show TGGGGGGAGGCCTCCTGAGGGCATGGCCTGTGGACTAACTCCTATACAGC AGGGATGGCCTCATCCACAGGGGATGGGGGGAGGCCTCCTGAGGGCATGG CCTGTGGACTAACTCCTATACAGCAGGGATGGCCTCATCCACAGGGGAT	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(207): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01074.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03831.hp2 HG03834.hp1 HG04184.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18959.hp1 NA18960.hp1 NA18963.hp1 NA18965.hp1 NA18966.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18990.hp1 NA18992.hp1 NA18993.hp1 NA18995.hp1 NA18999.hp1 NA18999.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19057.hp1 NA19058.hp1 NA19063.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19077.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19088.hp1 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0004 others(33): Show a0001 a0002 a0004 a0005 a0008 a0009 a0010 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0022 a0023 a0027 a0028 a0029 a0035 a0036 a0037 a0038 a0039 a0041 a0043 a0044 a0045 a0046 a0047 a0048 a0050 a0051 a0052 a0054 a0056	a0001c0001 a0001c0006 a0001c0010 others(58): Show a0001c0001 a0001c0006 a0001c0010 a0001c0013 a0001c0029 a0001c0048 a0001c0069 a0001c0084 a0001c0086 a0001c0088 a0001c0101 a0001c0104 a0002c0002 a0002c0003 a0002c0045 a0002c0087 a0004c0004 a0004c0049 a0004c0056 a0005c0005 a0005c0018 a0005c0057 a0005c0068 a0005c0070 a0005c0079 a0005c0105 a0008c0012 a0009c0015 a0009c0026 a0010c0025 a0014c0076 a0015c0022 a0016c0027 a0017c0044 a0017c0050 a0018c0028 a0019c0042 a0020c0033 a0022c0038 a0023c0036 a0027c0043 a0028c0092 a0028c0094 a0029c0031 a0035c0073 a0036c0080 a0037c0081 a0038c0071 a0039c0067 a0041c0065 a0043c0062 a0044c0061 a0045c0060 a0046c0059 a0047c0054 a0048c0075 a0050c0053 a0051c0052 a0052c0089 a0054c0096 a0056c0093	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(62): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0006t0001 a0001c0010t0001 a0001c0013t0001 a0001c0029t0001 a0001c0048t0001 a0001c0069t0001 a0001c0084t0001 a0001c0086t0001 a0001c0088t0001 a0001c0101t0001 a0001c0104t0001 a0002c0002t0001 a0002c0002t0002 a0002c0003t0001 a0002c0003t0002 a0002c0045t0002 a0002c0087t0002 a0004c0004t0001 a0004c0049t0001 a0004c0056t0001 a0005c0005t0001 a0005c0018t0001 a0005c0057t0001 a0005c0068t0001 a0005c0070t0001 a0005c0079t0001 a0005c0105t0001 a0008c0012t0001 a0009c0015t0001 a0009c0026t0001 a0010c0025t0001 a0014c0076t0001 a0015c0022t0001 a0016c0027t0001 a0017c0044t0001 a0017c0050t0001 a0018c0028t0001 a0019c0042t0001 a0020c0033t0001 a0022c0038t0001 a0023c0036t0001 a0027c0043t0001 a0028c0092t0001 a0028c0094t0002 a0029c0031t0001 a0035c0073t0001 a0036c0080t0001 a0037c0081t0001 a0038c0071t0001 a0039c0067t0001 a0041c0065t0002 a0043c0062t0001 a0044c0061t0001 a0045c0060t0001 a0046c0059t0001 a0047c0054t0001 a0048c0075t0001 a0050c0053t0001 a0051c0052t0001 a0052c0089t0004 a0054c0096t0001 a0056c0093t0002	a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0029 others(205): Show a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0053 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0105 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0208 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0004g0019 a0001c0006t0001g0049 a0001c0006t0001g0122 a0001c0006t0001g0188 a0001c0006t0001g0190 a0001c0006t0001g0198 a0001c0006t0001g0235 a0001c0006t0001g0252 a0001c0006t0001g0257 a0001c0006t0001g0311 a0001c0006t0001g0346 a0001c0006t0001g0410 a0001c0010t0001g0016 a0001c0010t0001g0123 a0001c0010t0001g0127 a0001c0010t0001g0157 a0001c0010t0001g0179 a0001c0010t0001g0183 a0001c0010t0001g0184 a0001c0010t0001g0335 a0001c0010t0001g0405 a0001c0010t0001g0406 a0001c0010t0001g0407 a0001c0010t0001g0408 a0001c0013t0001g0052 a0001c0013t0001g0120 a0001c0013t0001g0133 a0001c0013t0001g0136 a0001c0013t0001g0137 a0001c0013t0001g0138 a0001c0029t0001g0323 a0001c0029t0001g0352 a0001c0029t0001g0399 a0001c0048t0001g0048 a0001c0069t0001g0289 a0001c0084t0001g0225 a0001c0086t0001g0201 a0001c0088t0001g0291 a0001c0101t0001g0277 a0001c0104t0001g0255 a0002c0002t0001g0213 a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0003t0001g0002 a0002c0003t0001g0219 a0002c0003t0001g0239 a0002c0003t0001g0278 a0002c0003t0001g0283 a0002c0003t0001g0287 a0002c0003t0001g0319 a0002c0003t0001g0320 a0002c0003t0001g0384 a0002c0003t0002g0322 a0002c0045t0002g0327 a0002c0087t0002g0204 a0004c0004t0001g0240 a0004c0004t0001g0241 a0004c0004t0001g0290 a0004c0004t0001g0325 a0004c0004t0001g0337 a0004c0004t0001g0338 a0004c0004t0001g0339 a0004c0004t0001g0340 a0004c0004t0001g0361 a0004c0004t0001g0362 a0004c0004t0001g0363 a0004c0004t0001g0364 a0004c0004t0001g0365 a0004c0004t0001g0368 a0004c0004t0001g0369 a0004c0004t0001g0370 a0004c0004t0001g0371 a0004c0004t0001g0373 a0004c0004t0001g0374 a0004c0004t0001g0375 a0004c0004t0001g0376 a0004c0004t0001g0377 a0004c0004t0001g0378 a0004c0049t0001g0115 a0004c0056t0001g0110 a0005c0005t0001g0200 a0005c0005t0001g0202 a0005c0005t0001g0203 a0005c0005t0001g0205 a0005c0005t0001g0220 a0005c0005t0001g0221 a0005c0005t0001g0222 a0005c0005t0001g0223 a0005c0005t0001g0224 a0005c0005t0001g0242 a0005c0005t0001g0243 a0005c0005t0001g0244 a0005c0005t0001g0245 a0005c0005t0001g0293 a0005c0005t0001g0294 a0005c0005t0001g0295 a0005c0005t0001g0296 a0005c0005t0001g0341 a0005c0005t0001g0379 a0005c0005t0001g0380 a0005c0018t0001g0042 a0005c0018t0001g0238 a0005c0018t0001g0328 a0005c0018t0001g0356 a0005c0057t0001g0064 a0005c0068t0001g0355 a0005c0070t0001g0372 a0005c0079t0001g0149 a0005c0105t0001g0193 a0008c0012t0001g0171 a0008c0012t0001g0173 a0008c0012t0001g0176 a0008c0012t0001g0177 a0009c0015t0001g0160 a0009c0015t0001g0161 a0009c0015t0001g0162 a0009c0015t0001g0163 a0009c0015t0001g0164 a0009c0026t0001g0001 a0009c0026t0001g0209 a0010c0025t0001g0168 a0010c0025t0001g0284 a0014c0076t0001g0181 a0015c0022t0001g0165 a0015c0022t0001g0166 a0015c0022t0001g0167 a0016c0027t0001g0394 a0016c0027t0001g0395 a0016c0027t0001g0396 a0017c0044t0001g0358 a0017c0044t0001g0382 a0017c0050t0001g0090 a0018c0028t0001g0331 a0018c0028t0001g0332 a0018c0028t0001g0334 a0019c0042t0001g0350 a0019c0042t0001g0381 a0020c0033t0001g0013 a0020c0033t0001g0014 a0022c0038t0001g0392 a0022c0038t0001g0393 a0023c0036t0001g0390 a0023c0036t0001g0391 a0027c0043t0001g0386 a0027c0043t0001g0387 a0028c0092t0001g0333 a0028c0094t0002g0330 a0029c0031t0001g0180 a0035c0073t0001g0128 a0036c0080t0001g0172 a0037c0081t0001g0409 a0038c0071t0001g0366 a0039c0067t0001g0353 a0041c0065t0002g0218 a0043c0062t0001g0326 a0044c0061t0001g0286 a0045c0060t0001g0329 a0046c0059t0001g0354 a0047c0054t0001g0033 a0048c0075t0001g0174 a0050c0053t0001g0360 a0051c0052t0001g0145 a0052c0089t0004g0247 a0054c0096t0001g0342 a0056c0093t0002g0367	210	412	0.5097	-148	c.278 others(19): Show c.2786-4338_2786-4191del	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
STK38L_chr12_27239286_27330959	27240759	TTGTATAG others(141): Show TTGTATAGTTATATATATTACATATATGACTATGTATAGTTGTATAGTTA TATATATTACATATATCACTATGTATAGTTGTATAGTTATATATATTACA TATATCACTATGTATAGTTGTATAGTTATATATATTACATATATGACTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0106	1	374	0.0027	-148	c.-35 others(11): Show c.-3584_-3437del	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding		3526		chr12	TogoVar
SYK_chr9_90796819_90903549	90841972	AGTGTATG others(141): Show AGTGTATGTAGTTTTTGTGTGTTGTGTGTGCAGTGTGTGATATGTGTAGT GTGTTGTGTGTGTGGTGTACGTGTAGTTGGTGTGTGTGATGTGTGTAGTG TCCATGTAGTACATGGTGTGTGTAGTGTGTGTAGTGTGTTGTATGTGGT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01081.hp1 HG01175.hp2 others(17): Show HG00733.hp1 HG01081.hp1 HG01175.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01934.hp2 HG01993.hp1 HG02165.hp1 HG02559.hp2 HG02886.hp2 HG03239.hp2 HG03654.hp2 HG03834.hp1 HG04115.hp2 NA18971.hp2 NA18999.hp2 NA19090.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0001c0001t0022 a0001c0001t0029 a0001c0003t0008 a0001c0005t0042	a0001c0001t0001g0272 a0001c0001t0002g0092 a0001c0001t0002g0136 others(17): Show a0001c0001t0001g0272 a0001c0001t0002g0092 a0001c0001t0002g0136 a0001c0001t0003g0043 a0001c0001t0003g0185 a0001c0001t0003g0271 a0001c0001t0003g0273 a0001c0001t0003g0328 a0001c0001t0007g0008 a0001c0001t0007g0275 a0001c0001t0013g0187 a0001c0001t0014g0082 a0001c0001t0014g0296 a0001c0001t0019g0309 a0001c0001t0019g0337 a0001c0001t0022g0028 a0001c0001t0029g0274 a0001c0001t0029g0300 a0001c0003t0008g0147 a0001c0005t0042g0057	20	376	0.0532	-148	c.-41 others(17): Show c.-41-1885_-41-1738del	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	1/13			chr9	TogoVar
TAF13_chr1_109059140_109081003	109071973	TATACACA others(141): Show TATACACACATATATATATATATATATATATATATATATATACACACACA TATATATATATATATATATATACACACACATATATATATATATATATATA TATACACACACATATATATATATATATATATATATATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02257.hp1 HG02559.hp1 others(3): Show HG00099.hp1 HG02257.hp1 HG02559.hp1 HG03486.hp2 NA18955.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007	a0001c0001t0002g0025 a0001c0001t0002g0099 a0001c0001t0002g0180 others(2): Show a0001c0001t0002g0025 a0001c0001t0002g0099 a0001c0001t0002g0180 a0001c0001t0003g0155 a0001c0001t0007g0174	6	414	0.0145	-148	c.106 others(17): Show c.106+2866_106+3013del	TAF13	ENSG00000197780.11	transcript	ENST00000338366.6	protein_coding	2/3			chr1	TogoVar
TAF4_chr20_61969798_62070881	62058179	CGGGGGGC others(141): Show CGGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGCCTACA CACCAGGCCACAGACAATGGGGCTCGGGGGCCAACCTCAGCAAGACCTCA GGAAGGACGGACACAGGTCTACACACCAGGCCACAGACAATGGGGCTCG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG02155.hp2 others(2): Show HG00408.hp1 HG00438.hp2 HG02155.hp2 NA19066.hp1 NA19082.hp1	a0001 a0016 a0001 a0016	a0001c0004 a0016c0021 a0001c0004 a0016c0021	a0001c0004t0001 a0016c0021t0001 a0001c0004t0001 a0016c0021t0001	a0001c0004t0001g0179 a0001c0004t0001g0180 a0001c0004t0001g0181 others(2): Show a0001c0004t0001g0179 a0001c0004t0001g0180 a0001c0004t0001g0181 a0001c0004t0001g0182 a0016c0021t0001g0019	5	314	0.0159	-148	c.136 others(19): Show c.1360+6124_1360+6271del	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	1/14			chr20	TogoVar
TAF4_chr20_61969798_62070881	62058590	TCTACACA others(141): Show TCTACACACCAGGCCACAGACAATGGGGCTCGGGGGGCCAACCTCAGCAA GACCTCAGGAAGGACGGACACAGGCCTACACACCAGGCCACAGACAATGG GGCTCGGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00438.hp1 others(59): Show HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00642.hp2 HG00673.hp2 HG01167.hp1 HG01169.hp1 HG01192.hp1 HG01258.hp2 HG01978.hp2 HG02040.hp1 HG02083.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02273.hp2 HG02300.hp2 HG02738.hp1 HG02965.hp2 HG03239.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03831.hp1 HG03834.hp2 HG04184.hp1 HG04204.hp1 NA18747.hp2 NA18941.hp2 NA18942.hp1 NA18944.hp2 NA18949.hp2 NA18950.hp1 NA18956.hp1 NA18962.hp2 NA18964.hp2 NA18966.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA18999.hp2 NA19002.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp2 NA19091.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0007 a0009 a0016 a0018	a0001c0001 a0001c0004 a0001c0013 others(7): Show a0001c0001 a0001c0004 a0001c0013 a0001c0025 a0002c0006 a0003c0007 a0007c0016 a0009c0034 a0016c0021 a0018c0018	a0001c0001t0001 a0001c0001t0003 a0001c0004t0001 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0004t0001 a0001c0013t0001 a0001c0025t0001 a0002c0006t0001 a0002c0006t0011 a0003c0007t0001 a0007c0016t0001 a0009c0034t0001 a0016c0021t0001 a0018c0018t0001	a0001c0001t0001g0028 a0001c0001t0001g0067 a0001c0001t0001g0100 others(59): Show a0001c0001t0001g0028 a0001c0001t0001g0067 a0001c0001t0001g0100 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0003g0159 a0001c0001t0003g0161 a0001c0004t0001g0179 a0001c0004t0001g0180 a0001c0004t0001g0181 a0001c0004t0001g0182 a0001c0013t0001g0312 a0001c0025t0001g0202 a0002c0006t0001g0293 a0002c0006t0001g0294 a0002c0006t0001g0298 a0002c0006t0001g0299 a0002c0006t0001g0301 a0002c0006t0011g0300 a0003c0007t0001g0015 a0003c0007t0001g0016 a0003c0007t0001g0017 a0003c0007t0001g0018 a0007c0016t0001g0302 a0007c0016t0001g0303 a0009c0034t0001g0306 a0016c0021t0001g0019 a0018c0018t0001g0009	62	314	0.1975	-148	c.136 others(19): Show c.1360+5713_1360+5860del	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	1/14			chr20	TogoVar
TBC1D5_chr3_17152168_17747631	17704517	ACCTCCCG others(141): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCAA CCTCCCGGACGGGGCTGCTGGCCAGGCGGGGGGCCGACCCCCCCACCTC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00639.hp1 others(61): Show HG00099.hp2 HG00140.hp1 HG00639.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01109.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01891.hp2 HG01934.hp1 HG02109.hp1 HG02132.hp1 HG02145.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp2 HG02523.hp2 HG02602.hp1 HG02630.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG02809.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG02970.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03540.hp1 HG03669.hp2 HG03834.hp2 HG03942.hp2 HG04228.hp1 NA18957.hp1 NA18975.hp1 NA18986.hp1 NA18999.hp2 NA19030.hp2 NA19043.hp1 NA20300.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(2): Show a0001c0001 a0001c0003 a0001c0006 a0002c0002 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0003t0003 a0001c0003t0005 a0001c0006t0006 a0002c0002t0001 a0002c0004t0001	a0001c0001t0001g0050 a0001c0001t0001g0133 a0001c0001t0001g0142 others(61): Show a0001c0001t0001g0050 a0001c0001t0001g0133 a0001c0001t0001g0142 a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0138 a0001c0001t0003g0048 a0001c0001t0003g0057 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0141 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0004g0007 a0001c0001t0004g0049 a0001c0001t0004g0061 a0001c0001t0004g0065 a0001c0001t0004g0070 a0001c0001t0004g0073 a0001c0001t0004g0134 a0001c0001t0004g0144 a0001c0001t0004g0146 a0001c0001t0005g0008 a0001c0001t0005g0021 a0001c0001t0005g0022 a0001c0001t0005g0051 a0001c0001t0005g0052 a0001c0001t0005g0053 a0001c0001t0005g0054 a0001c0001t0005g0055 a0001c0001t0006g0074 a0001c0001t0006g0145 a0001c0001t0010g0064 a0001c0001t0010g0143 a0001c0001t0013g0001 a0001c0001t0015g0132 a0001c0001t0020g0139 a0001c0001t0023g0137 a0001c0001t0024g0018 a0001c0001t0025g0135 a0001c0001t0026g0136 a0001c0003t0003g0131 a0001c0003t0005g0058 a0001c0006t0006g0076 a0002c0002t0001g0023 a0002c0002t0001g0072 a0002c0002t0001g0077 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0140 a0002c0004t0001g0071	64	162	0.3951	-148	c.-10 others(21): Show c.-101+37816_-101+37963del	TBC1D5	ENSG00000131374.15	transcript	ENST00000696125.1	protein_coding	1/22			chr3	TogoVar
TCF12_chr15_56913644_57294853	57170642	AATATATA others(141): Show AATATATATATTATATAAAATATATATATATATAATATATTATATATAAT ATATATTATATATAATATATAATATATATATTATATATTATATATAATAT ATATTATATATTATATATTATATATATATTATATATAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp2 HG00558.hp1 others(36): Show HG00323.hp2 HG00423.hp2 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00639.hp2 HG00738.hp1 HG01074.hp2 HG01928.hp1 HG02027.hp1 HG02040.hp1 HG02071.hp1 HG02129.hp1 HG02132.hp2 HG02148.hp2 HG02165.hp1 HG02523.hp1 HG03491.hp2 NA18747.hp1 NA18962.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18971.hp1 NA18983.hp2 NA18991.hp2 NA18995.hp1 NA19000.hp1 NA19003.hp2 NA19005.hp2 NA19009.hp1 NA19058.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19085.hp1 NA19087.hp1 NA20129.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0018 a0001c0001t0022 others(3): Show a0001c0001t0002 a0001c0001t0018 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0029	a0001c0001t0002g0004 a0001c0001t0002g0011 a0001c0001t0002g0219 others(36): Show a0001c0001t0002g0004 a0001c0001t0002g0011 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0243 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0297 a0001c0001t0002g0300 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0018g0296 a0001c0001t0018g0298 a0001c0001t0022g0290 a0001c0001t0024g0247 a0001c0001t0025g0248 a0001c0001t0029g0306	39	330	0.1182	-148	c.390 others(17): Show c.390+4178_390+4325del	TCF12	ENSG00000140262.18	transcript	ENST00000333725.10	protein_coding	6/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
TFB1M_chr6_155251134_155319484	155305122	ATATACAT others(141): Show ATATACATAATTATATATTTATATATATAAATATATATTAAATTATATAT TTATATATATATTAAATTATATATTTATATATATATTAAATTATATATTT ATATATATATATTAAATTATATATTTATATATATATTAAATTATATATT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0027 a0001c0001t0028g0027	1	348	0.0029	-148	c.285 others(17): Show c.285+5918_285+6065del	TFB1M	ENSG00000029639.11	transcript	ENST00000367166.5	protein_coding	2/6			chr6	TogoVar
THAP4_chr2_241579405_241642158	241604644	TAGTGATC others(141): Show TAGTGATCCACCTGCCTTGACCTCCCAAAGTGCTGGGATTACAGGCGTCA GCCACCGCACCTGGCCAAGATAAACTTATTTATTTATTAAAACAAATTTT TTTAGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGGACTCCTGGACTCA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	390	0.0026	-148	c.140 others(19): Show c.1400+1522_1401-1566del	THAP4	ENSG00000176946.13	transcript	ENST00000407315.6	protein_coding	3/5			chr2	TogoVar
THBS3_chr1_155190588_155212897	155190830	TTGGGGGG others(141): Show TTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCTGGGGGGGCGGTGG AGCCGGGGCCGGCCTGGTGTCCGGGGTTGGAAAACTGGGCTGGGGGGGCG GTGGAGCCCGGGGCCGGCAGGGGTCCGGGGCCGAGGTGACACCGTGGGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	298	0.0034	-148	c.48 others(11): Show c.4863_*5010del	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4757		chr1	TogoVar
TMC4_chr19_54155108_54178160	54172279	TCCTCCTC others(141): Show TCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCGGCTCCTCCTCCCTCA GACCCAGGAGTCCAGGCCCCCGGCTCCTCCTCCCTCAGACCCAGGAGTCC AGGCCCCCGGCTCCTCCTCCCTCAGACCCAGGAGAACAGGCCCCCGGCG	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02486.hp2 HG02572.hp1 others(11): Show HG02280.hp2 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02735.hp2 HG02886.hp1 HG03017.hp2 HG03041.hp2 HG03516.hp1 HG06807.hp1 NA18906.hp1 NA20300.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0003c0005 others(2): Show a0001c0001 a0003c0003 a0003c0005 a0003c0009 a0003c0023	a0001c0001t0001 a0003c0003t0001 a0003c0005t0001 others(2): Show a0001c0001t0001 a0003c0003t0001 a0003c0005t0001 a0003c0009t0001 a0003c0023t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0003c0003t0001g0246 others(10): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0003c0003t0001g0246 a0003c0005t0001g0236 a0003c0005t0001g0237 a0003c0005t0001g0238 a0003c0005t0001g0239 a0003c0005t0001g0240 a0003c0005t0001g0242 a0003c0005t0001g0243 a0003c0005t0001g0245 a0003c0009t0001g0241 a0003c0023t0001g0244	14	407	0.0344	-148	c.80- others(13): Show c.80-344_80-197del	TMC4	ENSG00000167608.12	transcript	ENST00000619895.5	protein_coding	1/14			chr19	TogoVar
TPK1_chr7_144446941_144841053	144685656	TTCACATT others(141): Show TTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTT TTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTT AGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATG	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00621.hp1 others(114): Show HG00438.hp1 HG00438.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01361.hp1 HG01361.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA19030.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(114): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0002g0058 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0093 a0001c0001t0002g0098 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0105 a0001c0001t0002g0108 a0001c0001t0002g0113 a0001c0001t0003g0013 a0001c0001t0003g0021 a0001c0001t0003g0025 a0001c0001t0003g0038 a0001c0001t0003g0100 a0001c0001t0003g0106 a0001c0001t0003g0114 a0001c0001t0004g0047 a0001c0001t0004g0096 a0001c0001t0004g0118 a0001c0001t0005g0035 a0001c0001t0005g0049 a0001c0001t0005g0056 a0001c0001t0006g0057 a0001c0001t0006g0099 a0001c0001t0007g0011 a0001c0001t0007g0103 a0001c0001t0008g0001 a0001c0001t0009g0074 a0001c0001t0010g0095	117	118	0.9915	-148	c.116 others(17): Show c.116-2826_116-2679del	TPK1	ENSG00000196511.15	transcript	ENST00000360057.7	protein_coding	3/8			chr7	TogoVar
TRPV5_chr7_142903101_142938746	142924229	CATATATA others(141): Show CATATATATATATATACATATACATGTATATATATACATATATATATATA TACATATACATGTATATATATACATATATATATACACACATATACATGTA TATATATACATATATATATATATAGACATATACATGTATATATATACAT	C C	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	253	0.0040	-148	c.112 others(19): Show c.1122+1152_1122+1299del	TRPV5	ENSG00000127412.7	transcript	ENST00000265310.6	protein_coding	8/14			chr7	TogoVar
TTLL11_chr9_121810674_122098308	121971116	TGGGGGGG others(141): Show TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT AGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCCGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA20300.hp1 HG02280.hp2 NA20300.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0010 a0001c0001 a0010c0010	a0001c0001t0038 a0010c0010t0008 a0001c0001t0038 a0010c0010t0008	a0001c0001t0038g0075 a0010c0010t0008g0024 a0001c0001t0038g0075 a0010c0010t0008g0024	2	174	0.0115	-148	c.148 others(19): Show c.1481+2745_1481+2892del	TTLL11	ENSG00000175764.17	transcript	ENST00000321582.11	protein_coding	6/8			chr9	TogoVar
TUBGCP5_chr15_22994177_23044569	23042519	AACTTCAT others(141): Show AACTTCATAACCCCACCTGGCCAGAGGTGCTGGGGGTGACTTCATAACTG TCACCTGGCCAGAGGTGCTGGGGGGGATTTCATAACCCCACCTGGCCAGA GGTGCTGCGGGGGACTTCATAACCACACCTGGCCAGAGGTGCCGGGAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02486.hp1 HG02559.hp2 others(9): Show HG02258.hp1 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02630.hp2 HG02717.hp2 HG02922.hp2 HG03041.hp1 HG03579.hp1 NA18906.hp2 NA19030.hp1 NA19240.hp1	a0002 a0002	a0002c0004 a0002c0005 a0002c0004 a0002c0005	a0002c0004t0002 a0002c0005t0002 a0002c0004t0002 a0002c0005t0002	a0002c0004t0002g0029 a0002c0004t0002g0261 a0002c0004t0002g0262 others(8): Show a0002c0004t0002g0029 a0002c0004t0002g0261 a0002c0004t0002g0262 a0002c0004t0002g0263 a0002c0004t0002g0264 a0002c0004t0002g0265 a0002c0004t0002g0268 a0002c0004t0002g0269 a0002c0005t0002g0260 a0002c0005t0002g0266 a0002c0005t0002g0267	12	351	0.0342	-148	c.-31 others(11): Show c.-3124_-2977del	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		2951		chr15	TogoVar
TXK_chr4_48061393_48139250	48104272	TAATATAT others(141): Show TAATATATAATATATATAATATATAATATAATATATAATATATATAATAT ATAATATAATATATAATATATATAATATATAATATAATATATAATATATA TAATATATAATATTATATATAATATATATAATATATAATATTATATATA	T T	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02055.hp2 HG01993.hp2 HG02055.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0251 a0002c0003t0001g0331 a0002c0003t0001g0251 a0002c0003t0001g0331	2	362	0.0055	-148	c.501 others(15): Show c.501+481_501+628del	TXK	ENSG00000074966.11	transcript	ENST00000264316.9	protein_coding	6/14			chr4	TogoVar
TXNRD1_chr12_104210779_104355307	104323497	ACCTCCCG others(141): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCC CTCCCAGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCACCTC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02055.hp2 HG02486.hp1 others(8): Show HG01243.hp1 HG02055.hp2 HG02486.hp1 HG02572.hp1 HG02896.hp1 HG02897.hp2 HG03130.hp2 HG03453.hp1 HG03540.hp2 HG03579.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0008 a0001c0001 a0001c0003 a0002c0008	a0001c0001t0003 a0001c0003t0003 a0002c0008t0003 a0001c0001t0003 a0001c0003t0003 a0002c0008t0003	a0001c0001t0003g0243 a0001c0001t0003g0301 a0001c0001t0003g0302 others(8): Show a0001c0001t0003g0243 a0001c0001t0003g0301 a0001c0001t0003g0302 a0001c0003t0003g0099 a0001c0003t0003g0104 a0001c0003t0003g0105 a0001c0003t0003g0106 a0001c0003t0003g0107 a0001c0003t0003g0110 a0001c0003t0003g0123 a0002c0008t0003g0217	11	302	0.0364	-148	c.121 others(19): Show c.1216-1763_1216-1616del	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
UBE3A_chr15_25328728_25444024	25430139	TATATATA others(141): Show TATATATATAATACATATATATAAGATTATATATATATTATATATATAAT ACATATATATAAGATTATATATATATTATATATATAATACATATATATAA GATTATATATATATTATATATATAATACATATATAAGATTATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0242 a0001c0001t0003g0242	1	298	0.0034	-148	c.-16 others(19): Show c.-165+8202_-165+8349del	UBE3A	ENSG00000114062.22	transcript	ENST00000648336.2	protein_coding	1/12			chr15	TogoVar
UBTD1_chr10_97493924_97576206	97528577	ACCCCCCC others(141): Show ACCCCCCCACCTCCCTCCCGAACGGGGCGGCTGGCCGGGCGGGGGGCTGA ACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC	A A	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0236 a0001c0001t0005g0236	1	314	0.0032	-148	c.70+ others(17): Show c.70+29324_70+29471del	UBTD1	ENSG00000165886.5	transcript	ENST00000370664.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
ULK4_chr3_41241599_41967103	41306204	CGCCCGGG others(141): Show CGCCCGGGAGGGAGGTGGGGGCGTCAGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCCGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGG	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02622.hp1 HG02895.hp1 others(4): Show HG02572.hp1 HG02622.hp1 HG02895.hp1 HG03209.hp2 HG04115.hp2 HG06807.hp2 NA19043.hp1	a0001 a0017 a0001 a0017	a0001c0001 a0017c0019 a0001c0001 a0017c0019	a0001c0001t0001 a0001c0001t0003 a0017c0019t0003 a0001c0001t0001 a0001c0001t0003 a0017c0019t0003	a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0047 others(4): Show a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0003g0069 a0017c0019t0003g0071	7	72	0.0972	-148	c.367 others(21): Show c.3679-56778_3679-56631del	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	35/36			chr3	TogoVar
USP13_chr3_179648040_179794401	179727891	ACCTCCCG others(141): Show ACCTCCCGGACGGGGCGGCTGGCCAGGTGGGGGGCTGACCCCCCCACCTC CCTCTCGGACGAGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCCACCTCC CTCCCAGACGGGGCGGCTGGCCAGGTGGGGGGCTGATCCCCACCACCTC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00438.hp1 others(115): Show HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01123.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01993.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02074.hp1 HG02080.hp1 HG02132.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02280.hp2 HG02293.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp2 HG02886.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03139.hp2 HG03239.hp2 HG03490.hp1 HG03669.hp1 HG03688.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18941.hp2 NA18943.hp1 NA18945.hp1 NA18947.hp2 NA18950.hp1 NA18954.hp1 NA18966.hp1 NA18966.hp2 NA18969.hp2 NA18973.hp2 NA18977.hp2 NA18978.hp1 NA18986.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19005.hp2 NA19010.hp1 NA19011.hp2 NA19055.hp1 NA19060.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19077.hp1 NA19081.hp1 NA19085.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0002c0007 a0004c0013 a0005c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0020 a0001c0001t0026 a0001c0001t0031 a0001c0002t0001 a0001c0002t0004 a0001c0002t0006 a0001c0002t0007 a0001c0002t0016 a0001c0002t0033 a0001c0002t0040 a0001c0002t0042 a0001c0002t0043 a0001c0003t0001 a0001c0003t0005 a0001c0005t0005 a0001c0008t0004 a0002c0007t0001 a0004c0013t0001 a0005c0014t0001	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0020 others(115): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0020 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0001t0001g0121 a0001c0001t0001g0201 a0001c0001t0001g0207 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0224 a0001c0001t0001g0229 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0255 a0001c0001t0001g0259 a0001c0001t0001g0269 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0044 a0001c0001t0002g0054 a0001c0001t0002g0060 a0001c0001t0002g0071 a0001c0001t0002g0086 a0001c0001t0002g0112 a0001c0001t0002g0222 a0001c0001t0003g0299 a0001c0001t0004g0018 a0001c0001t0004g0235 a0001c0001t0004g0266 a0001c0001t0006g0035 a0001c0001t0006g0073 a0001c0001t0006g0081 a0001c0001t0006g0116 a0001c0001t0006g0228 a0001c0001t0007g0013 a0001c0001t0007g0099 a0001c0001t0007g0106 a0001c0001t0007g0209 a0001c0001t0009g0103 a0001c0001t0011g0057 a0001c0001t0011g0065 a0001c0001t0011g0223 a0001c0001t0011g0253 a0001c0001t0012g0070 a0001c0001t0012g0113 a0001c0001t0020g0059 a0001c0001t0026g0049 a0001c0001t0031g0227 a0001c0002t0001g0132 a0001c0002t0001g0135 a0001c0002t0001g0137 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0152 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0159 a0001c0002t0001g0167 a0001c0002t0004g0143 a0001c0002t0004g0186 a0001c0002t0006g0157 a0001c0002t0007g0166 a0001c0002t0016g0173 a0001c0002t0033g0174 a0001c0002t0040g0126 a0001c0002t0042g0129 a0001c0002t0043g0125 a0001c0003t0001g0231 a0001c0003t0005g0002 a0001c0003t0005g0243 a0001c0005t0005g0122 a0001c0005t0005g0178 a0001c0008t0004g0264 a0002c0007t0001g0200 a0002c0007t0001g0244 a0002c0007t0001g0254 a0004c0013t0001g0010 a0005c0014t0001g0076	118	300	0.3933	-148	c.108 others(19): Show c.1089-2274_1089-2127del	USP13	ENSG00000058056.10	transcript	ENST00000263966.8	protein_coding	8/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
VAV2_chr9_133756894_133997324	133772901	GTAGGCTG others(141): Show GTAGGCTGGACGGCAGAGCCTACCACACACCCTATACCTAAGCTGAATGA TGGAGCCTACTGCACGCCCCACAACTAGGCTGGACGGCAGAGCCTACTGC ACACCCCACACCTAGGCTGGACGGCAGAGCCTACTGCACACCCCACACC	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG03491.hp2 HG00735.hp1 HG03491.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0002 a0001c0004t0001 a0001c0004t0002	a0001c0004t0001g0189 a0001c0004t0002g0128 a0001c0004t0001g0189 a0001c0004t0002g0128	2	200	0.0100	-148	c.213 others(18): Show c.2136-1003_2136-856del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	25/29			chr9	TogoVar
WRAP73_chr1_3625770_3655103	3640475	AGGGTGGA others(141): Show AGGGTGGAACACCCGAGGCTCTGAGCATCAGCAGGGCGGGGTGCAGCGCC CGAGGCTCTGAGCATCAGCAGGGCGGGGTGCAGCGCCCGAGGCTCTGAGC ATCAGCAGGGCAGGGTGGAACGCCCCAGGCTCTGAGCGTCAGCAGGGCG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01167.hp1 HG01891.hp1 others(12): Show HG00741.hp1 HG01167.hp1 HG01891.hp1 HG02055.hp1 HG02257.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02723.hp2 HG02897.hp2 HG03209.hp2 HG03453.hp2 HG03540.hp1 NA18522.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0049 others(4): Show a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053	15	382	0.0393	-148	c.340 others(17): Show c.340-1801_340-1654del	WRAP73	ENSG00000116213.16	transcript	ENST00000270708.12	protein_coding	3/11			chr1	TogoVar
XCL1_chr1_168571605_168587069	168584771	AGGATCTT others(141): Show AGGATCTTAGACAGAGGGACCCAGGTTGCAGCATGCTCAGATGAGGGATG GAGAATAACAATTTGGAGGAAAATGGTTGAGGGCAGTGGGGGCCATTAGG CAATCATTGTCTTGGTGCAGGTTGGAGGAGATGTTGGCCTGAGTCAGGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01496.hp2 HG02071.hp2 others(8): Show HG01257.hp1 HG01496.hp2 HG02071.hp2 NA18944.hp2 NA18947.hp2 NA19001.hp1 NA19062.hp1 NA19063.hp1 NA19077.hp1 NA19081.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	11	456	0.0241	-148	c.35 others(11): Show c.3552_*3699del	XCL1	ENSG00000143184.5	transcript	ENST00000367818.4	protein_coding		2703		chr1	TogoVar
YBEY_chr21_46281342_46302751	46292483	AAAGTTAA others(141): Show AAAGTTAAACTCTAGATTAAATTCCTCCCGTGGTTAGCTTGGCCTGTGCC CGGGACTGAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCT CCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGC	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG03688.hp1 HG01099.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0278 a0001c0001t0002g0280 a0001c0001t0002g0278 a0001c0001t0002g0280	2	404	0.0050	-148	c.339 others(17): Show c.339+1051_339+1198del	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46292527	TGTGCCCG others(141): Show TGTGCCCGGGACTGAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAA ATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGC CACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0184 a0001c0001t0002g0184	1	404	0.0025	-148	c.339 others(17): Show c.339+1078_339+1225del	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46292540	GAGTGGGG others(141): Show GAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTC	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	404	0.0025	-148	c.339 others(17): Show c.339+1102_339+1249del	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46292564	AACTCTAG others(141): Show AACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAG	A A	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02074.hp2 HG02135.hp2 others(3): Show HG02040.hp1 HG02074.hp2 HG02135.hp2 HG02145.hp2 HG03704.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0074 a0001c0001t0001g0128 a0001c0001t0001g0272 others(3): Show a0001c0001t0001g0074 a0001c0001t0001g0128 a0001c0001t0001g0272 a0001c0001t0001g0341 a0001c0001t0002g0154 a0001c0001t0002g0335	6	404	0.0149	-148	c.339 others(17): Show c.339+1158_339+1305del	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46292844	TCAGCCAC others(141): Show TCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAGACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGA	T T	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA18944.hp1 NA18990.hp2 others(2): Show HG02040.hp2 NA18944.hp1 NA18990.hp2 NA19080.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0049 a0001c0001t0001g0071 others(1): Show a0001c0001t0001g0004 a0001c0001t0001g0049 a0001c0001t0001g0071 a0001c0001t0001g0103	5	404	0.0124	-148	c.339 others(17): Show c.339+1390_339+1537del	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46293638	GTGCCCGG others(141): Show GTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCC ACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCA	G G	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	404	0.0025	-148	c.339 others(17): Show c.339+2268_340-2285del	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294044	GACTCTAG others(141): Show GACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCTGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAA	G G	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	404	0.0025	-148	c.340 others(17): Show c.340-2052_340-1905del	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294118	AACTCTAG others(141): Show AACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCTGTGCCCGGGACT CAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02040.hp2 HG01099.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0071 a0001c0001t0002g0280 a0001c0001t0001g0071 a0001c0001t0002g0280	2	404	0.0050	-148	c.340 others(17): Show c.340-2007_340-1860del	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294324	TCAGCCAC others(141): Show TCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGA	T T	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	404	0.0025	-148	c.340 others(17): Show c.340-1822_340-1675del	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294398	ACAGCCAC others(141): Show ACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGT	A A	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	404	0.0025	-148	c.340 others(17): Show c.340-1608_340-1461del	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
ZIM3_chr19_57129096_57150202	57137839	AAAGGAAG others(141): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGA AAGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAG GAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAAGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02559.hp2 HG02976.hp2 HG02258.hp2 HG02559.hp2 HG02976.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0043 a0001c0007t0004g0175 a0001c0007t0004g0043 a0001c0007t0004g0175	3	418	0.0072	-148	c.142 others(15): Show c.142+485_142+632del	ZIM3	ENSG00000141946.1	transcript	ENST00000269834.1	protein_coding	3/4			chr19	TogoVar
ZNF253_chr19_19860882_19899674	19885250	TCTTTCTT others(141): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTCCTTTCTTTTCTTTCTTTTCTTTCTTTTCTTTCTTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01081.hp2 HG01884.hp2 others(43): Show HG00280.hp2 HG01081.hp2 HG01884.hp2 HG01891.hp2 HG02004.hp1 HG02040.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02886.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03540.hp2 HG03710.hp2 HG03831.hp2 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18954.hp1 NA18961.hp2 NA18971.hp2 NA18975.hp1 NA18982.hp2 NA18984.hp2 NA18985.hp1 NA18991.hp1 NA18994.hp2 NA18995.hp1 NA19057.hp1 NA19070.hp1 NA19077.hp1 NA19081.hp1 NA19083.hp1 NA19088.hp2 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0008 a0001c0002t0022 a0001c0002t0004 a0001c0002t0008 a0001c0002t0022	a0001c0002t0004g0002 a0001c0002t0004g0003 a0001c0002t0004g0009 others(37): Show a0001c0002t0004g0002 a0001c0002t0004g0003 a0001c0002t0004g0009 a0001c0002t0004g0024 a0001c0002t0004g0025 a0001c0002t0004g0026 a0001c0002t0004g0027 a0001c0002t0004g0028 a0001c0002t0004g0029 a0001c0002t0004g0030 a0001c0002t0004g0031 a0001c0002t0004g0032 a0001c0002t0004g0033 a0001c0002t0004g0034 a0001c0002t0004g0035 a0001c0002t0004g0036 a0001c0002t0004g0037 a0001c0002t0004g0038 a0001c0002t0004g0039 a0001c0002t0004g0040 a0001c0002t0004g0041 a0001c0002t0004g0042 a0001c0002t0004g0044 a0001c0002t0004g0045 a0001c0002t0004g0046 a0001c0002t0004g0047 a0001c0002t0004g0048 a0001c0002t0004g0049 a0001c0002t0004g0050 a0001c0002t0004g0276 a0001c0002t0008g0247 a0001c0002t0008g0248 a0001c0002t0008g0249 a0001c0002t0008g0250 a0001c0002t0008g0251 a0001c0002t0008g0252 a0001c0002t0008g0253 a0001c0002t0008g0254 a0001c0002t0008g0255 a0001c0002t0022g0043	46	370	0.1243	-148	c.226 others(17): Show c.226+5105_226+5252del	ZNF253	ENSG00000256771.5	transcript	ENST00000589717.2	protein_coding	3/3			chr19	TogoVar
ZNF516_chr18_76352682_76500242	76394085	GAAGCCGG others(141): Show GAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTG GGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGG CAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCC	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00735.hp2 HG02630.hp2 others(1): Show HG00323.hp1 HG00735.hp2 HG02630.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0001t0089 a0001c0001t0152 others(1): Show a0001c0001t0002 a0001c0001t0089 a0001c0001t0152 a0001c0005t0190	a0001c0001t0002g0096 a0001c0001t0089g0281 a0001c0001t0152g0027 others(1): Show a0001c0001t0002g0096 a0001c0001t0089g0281 a0001c0001t0152g0027 a0001c0005t0190g0122	4	346	0.0116	-148	c.181 others(21): Show c.1811-13930_1811-13783del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF611_chr19_52697813_52740044	52720906	GGCAGAGG others(141): Show GGCAGAGGCGCTCCTCACATCCCAGACGGGGCGGCCGGGCAGAGGCACTC CTCACTTCCCAGACGGGGAGGCCAGGCAGCGGTGCTCCTCACTTCCCAGA CGGGGCGGCCAGGCAGAGGCGCTCCTCACTTCCCAGACAGGGCAGCCGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp2 HG02145.hp1 others(4): Show HG01884.hp1 HG02109.hp2 HG02145.hp1 HG02280.hp1 HG02451.hp2 HG02895.hp2 HG03453.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0011 a0002c0003t0031 a0002c0003t0011 a0002c0003t0031	a0002c0003t0011g0002 a0002c0003t0011g0016 a0002c0003t0011g0191 others(2): Show a0002c0003t0011g0002 a0002c0003t0011g0016 a0002c0003t0011g0191 a0002c0003t0011g0193 a0002c0003t0031g0192	7	408	0.0172	-148	c.-19 others(17): Show c.-19-5141_-19-4994del	ZNF611	ENSG00000213020.10	transcript	ENST00000652185.1	protein_coding	3/5			chr19	TogoVar
AARS1_chr16_70247298_70294506	70275391	AGATCACG others(140): Show AGATCACGAGGTCAGGAGATCGAGATCATCCTGGCTAACACGGTGAAACC CAGTCTCTACTAAAAAATATATATATATAAAAAAACAATTGGCCGGGCAT GGTTCCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCG	A A	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA19085.hp2 NA18950.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0031 a0001c0001t0001g0021 a0001c0001t0001g0031	2	362	0.0055	-147	c.479 others(16): Show c.479+948_479+1094del	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	4/20			chr16	TogoVar

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