Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SCNN1D_chr1_1275436_1297025	1288668	TGTCTCTG others(143): Show TGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCGTCCCCCG A	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0036 a0002c0002t0001g0036	1	290	0.0035	-150	c.166 others(17): Show c.1662+653_1662+802del		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SGSM2_chr17_2332501_2386054	2356477	GTTGGGGG others(143): Show GTTGGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGG GTTGGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGG GTTGGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGG A	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	422	0.0024	-150	c.134 others(17): Show c.134-5153_134-5004del		SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23					INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2356529	TGGGGGAA others(143): Show TGGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGGT TGGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGAT TGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGGTT G	T T	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0119 a0001c0003t0002g0119	1	422	0.0024	-150	c.134 others(17): Show c.134-5103_134-4954del		SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23					INFO_REALIGN_3_PRIME	chr17	TogoVar
SH2D1A_chrX_124341563_124378160	124350728	ATATAATA others(143): Show ATATAATATATTATATATTGTATATAAGATATAATATATTATATATTGTA TATAAGATATAATATATTATATATTGTATATAAGATATAATATATTATAT ATTGTATATAAGATATAATATATTATATATTGTATATAAGATATAATATA T	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01081.hp1 HG01167.hp1 others(23): Show HG00639.hp2 HG01081.hp1 HG01167.hp1 HG01169.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02280.hp1 HG02451.hp2 HG02559.hp1 HG02615.hp2 HG02647.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02976.hp2 HG03195.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG06807.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0014	a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0102 others(20): Show a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0151 a0001c0001t0001g0276 a0001c0001t0003g0108 a0001c0001t0003g0112 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0150 a0001c0001t0004g0001 a0001c0001t0004g0016 a0001c0001t0014g0001	26	318	0.0818	-150	c.137 others(17): Show c.137+3954_137+4103del		SH2D1A	ENSG00000183918.18	transcript	ENST00000371139.9	protein_coding	1/3					INFO_REALIGN_3_PRIME	chrX	TogoVar
SHC2_chr19_411589_466033	427548	ACAGGGAA others(143): Show ACAGGGAAGGGGAATTGCGCACGGCACAGGGAAGGGGGAACTGCACACGG CGCAGGGAAGGGGAATTGCGCACGGCACAGGTAAGGGGACAGGGGACGGC GCACAGCACACGGAAGGGGGCGGCACAGGGAAGGGGGAACTGCACACGGC G	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG00621.hp1 others(33): Show HG00544.hp2 HG00558.hp1 HG00621.hp1 HG00621.hp2 HG01074.hp2 HG01943.hp2 HG01952.hp1 HG02132.hp2 HG02293.hp2 HG02559.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03209.hp2 HG03688.hp1 HG03688.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18954.hp2 NA18960.hp1 NA18985.hp2 NA18989.hp2 NA18995.hp2 NA18999.hp1 NA19009.hp2 NA19056.hp2 NA19066.hp2 NA19074.hp2 NA19080.hp1 NA19091.hp2 NA20752.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0009	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0002c0012 a0004c0010 a0009c0015	a0001c0001t0002 a0001c0001t0005 a0001c0002t0002 others(11): Show a0001c0001t0002 a0001c0001t0005 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0010 a0001c0006t0001 a0001c0006t0002 a0001c0006t0006 a0002c0012t0002 a0002c0012t0004 a0004c0010t0002 a0009c0015t0012	a0001c0001t0002g0052 a0001c0001t0005g0047 a0001c0002t0002g0046 others(32): Show a0001c0001t0002g0052 a0001c0001t0005g0047 a0001c0002t0002g0046 a0001c0003t0001g0058 a0001c0003t0001g0062 a0001c0003t0001g0066 a0001c0003t0001g0113 a0001c0003t0001g0139 a0001c0003t0002g0001 a0001c0003t0002g0060 a0001c0003t0002g0069 a0001c0003t0002g0072 a0001c0003t0002g0074 a0001c0003t0002g0075 a0001c0003t0002g0076 a0001c0003t0002g0078 a0001c0003t0002g0100 a0001c0003t0002g0111 a0001c0003t0002g0117 a0001c0003t0002g0181 a0001c0003t0004g0108 a0001c0003t0004g0109 a0001c0003t0004g0110 a0001c0003t0010g0077 a0001c0006t0001g0020 a0001c0006t0001g0023 a0001c0006t0001g0024 a0001c0006t0002g0018 a0001c0006t0002g0019 a0001c0006t0006g0014 a0002c0012t0002g0203 a0002c0012t0004g0193 a0004c0010t0002g0067 a0004c0010t0002g0068 a0009c0015t0012g0027	36	212	0.1698	-150	c.117 others(19): Show c.1175-2467_1175-2318del		SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	9/12						chr19	TogoVar
SHOX_chrX_625791_656584	629043	GTCTCTCC others(143): Show GTCTCTCCCTCTCTCTCCCTGTCTGTGTCTCTCTTTCTCTCTCTCCATCT CTCTCTGTCTCTCCCTGTGTTTCTCTCTCTCCATCTCTCTCTGTCTCTCC CTGTCTGTTTCTCTCTCTCCATCTGTCTGTGTCTCTCTTTCTCTCTCTCT A	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00544.hp2 HG00558.hp1 others(36): Show HG00323.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00639.hp2 HG00733.hp1 HG01070.hp2 HG01123.hp1 HG01175.hp1 HG01175.hp2 HG01975.hp2 HG02273.hp1 HG02683.hp2 HG03239.hp1 HG03516.hp2 HG03834.hp1 HG03927.hp1 NA18941.hp2 NA18948.hp2 NA18949.hp2 NA18964.hp1 NA18964.hp2 NA18973.hp2 NA18979.hp2 NA18980.hp1 NA18993.hp2 NA18997.hp1 NA18997.hp2 NA19002.hp1 NA19002.hp2 NA19011.hp1 NA19030.hp2 NA19074.hp2 NA19081.hp1 NA19086.hp1 NA19090.hp2 NA19091.hp1 NA21309.hp2	a0000 a0001 a0000 a0001	a0000c0002 a0001c0001 a0000c0002 a0001c0001	a0000c0002t0085 a0001c0001t0001 a0001c0001t0005 others(34): Show a0000c0002t0085 a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0039 a0001c0001t0049 a0001c0001t0067 a0001c0001t0073 a0001c0001t0075 a0001c0001t0082 a0001c0001t0084 a0001c0001t0094 a0001c0001t0098 a0001c0001t0106 a0001c0001t0109 a0001c0001t0111 a0001c0001t0113 a0001c0001t0119 a0001c0001t0123 a0001c0001t0124 a0001c0001t0127 a0001c0001t0132 a0001c0001t0137 a0001c0001t0144 a0001c0001t0147 a0001c0001t0149 a0001c0001t0150 a0001c0001t0155 a0001c0001t0156	a0000c0002t0085g0045 a0001c0001t0001g0007 a0001c0001t0005g0054 others(35): Show a0000c0002t0085g0045 a0001c0001t0001g0007 a0001c0001t0005g0054 a0001c0001t0009g0060 a0001c0001t0010g0008 a0001c0001t0011g0002 a0001c0001t0013g0055 a0001c0001t0013g0063 a0001c0001t0014g0052 a0001c0001t0015g0062 a0001c0001t0021g0004 a0001c0001t0022g0050 a0001c0001t0023g0047 a0001c0001t0039g0203 a0001c0001t0049g0059 a0001c0001t0067g0136 a0001c0001t0073g0201 a0001c0001t0075g0141 a0001c0001t0082g0007 a0001c0001t0084g0048 a0001c0001t0094g0004 a0001c0001t0098g0206 a0001c0001t0106g0042 a0001c0001t0109g0056 a0001c0001t0111g0061 a0001c0001t0113g0058 a0001c0001t0119g0180 a0001c0001t0123g0053 a0001c0001t0124g0049 a0001c0001t0127g0043 a0001c0001t0132g0046 a0001c0001t0137g0103 a0001c0001t0144g0162 a0001c0001t0147g0210 a0001c0001t0149g0134 a0001c0001t0150g0163 a0001c0001t0155g0003 a0001c0001t0156g0003	39	220	0.1773	-150	c.-18 others(11): Show c.-1854_-1705del		SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding					1747		chrX	TogoVar
SHOX_chrX_625791_656584	636573	AGAAATAT others(143): Show AGAAATATATATAAACATATATACATATAAAATATACATATATAAACATA TATATACATATAAAGAAATATATATAAACATATATACATATAAAATATAC ATATATAAACATATATATACATAAAATATATATATAAACATATATATACA T	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02809.hp1 HG03041.hp1 HG02559.hp1 HG02809.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0187 a0001c0001t0196 a0001c0001t0197 a0001c0001t0187 a0001c0001t0196 a0001c0001t0197	a0001c0001t0187g0071 a0001c0001t0196g0158 a0001c0001t0197g0143 a0001c0001t0187g0071 a0001c0001t0196g0158 a0001c0001t0197g0143	3	220	0.0136	-150	c.486 others(17): Show c.486+1748_486+1897del		SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding	2/4						chrX	TogoVar
SKI_chr1_2223319_2315213	2282070	AGGACGCC others(143): Show AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATG CCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGA AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGG C	A A	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0210 a0001c0001t0008g0210	1	330	0.0030	-150	c.970 others(19): Show c.970-20905_970-20756del		SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC16A9_chr10_59645764_59714850	59681492	GTATATGT others(143): Show GTATATGTATATGTATATGATGTATATGTATATGTGTATGTGTATGTGTA TGTATATGTATATGTATATGATGTATATGTATATGTGTATGTGTATGTAT ATGTATATGTATATGTATATGTATATGTATATGATGTATATGTATATGTG T	G G	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01361.hp1 HG01255.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0034 a0001c0001t0004g0035 a0001c0001t0004g0034 a0001c0001t0004g0035	2	352	0.0057	-150	c.196 others(17): Show c.196+2454_196+2603del		SLC16A9	ENSG00000165449.12	transcript	ENST00000395348.8	protein_coding	2/5						chr10	TogoVar
SLC27A4_chr9_128335527_128366470	128356700	AGGAGGCC others(143): Show AGGAGGCCAAGGTGGGCGGATCATTTGAGGTCAGGAGTTCGAGACCAGCC TGGCCAACATGGTGAAATGCCATCTCCACTAAAAATACAAACATAAAAAT AAAAAAATTAGGCTGAGCATGGTGGCTCACACCTGTAATCTCAGCACTTT G	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG01099.hp2 others(75): Show HG00280.hp2 HG00423.hp2 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01433.hp1 HG01884.hp1 HG02027.hp2 HG02055.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02523.hp2 HG02615.hp2 HG02647.hp2 HG02723.hp2 HG02922.hp2 HG03041.hp1 HG03139.hp2 HG03195.hp1 HG03453.hp2 HG03471.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03710.hp2 HG03831.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp1 NA18522.hp2 NA18906.hp1 NA18941.hp2 NA18944.hp2 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18956.hp1 NA18957.hp2 NA18960.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18969.hp1 NA18970.hp1 NA18980.hp2 NA18982.hp1 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18991.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19009.hp1 NA19010.hp2 NA19012.hp1 NA19056.hp1 NA19063.hp2 NA19065.hp2 NA19067.hp2 NA19076.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp1 NA19086.hp1 NA19088.hp1 NA19091.hp1 NA21309.hp1	a0002 a0010 a0002 a0010	a0002c0002 a0002c0005 a0002c0010 others(2): Show a0002c0002 a0002c0005 a0002c0010 a0002c0019 a0010c0018	a0002c0002t0001 a0002c0002t0002 a0002c0002t0009 others(7): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0009 a0002c0002t0011 a0002c0002t0014 a0002c0002t0015 a0002c0005t0001 a0002c0010t0001 a0002c0019t0001 a0010c0018t0001	a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0001g0012 others(45): Show a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0017 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0049 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0002g0003 a0002c0002t0009g0145 a0002c0002t0011g0148 a0002c0002t0014g0047 a0002c0002t0015g0048 a0002c0005t0001g0003 a0002c0005t0001g0005 a0002c0005t0001g0165 a0002c0010t0001g0169 a0002c0019t0001g0031 a0010c0018t0001g0032	78	344	0.2267	-150	c.177 others(18): Show c.1774+916_1774+1065del		SLC27A4	ENSG00000167114.13	transcript	ENST00000300456.5	protein_coding	12/12					INFO_REALIGN_3_PRIME	chr9	TogoVar
SLC66A2_chr18_79897420_79956653	79920114	GGGGAGAG others(143): Show GGGGAGAGACGGAACCGAGGGAGAGGTCAGGGTCAGTGAGGAGAGACAGG AACCGAGGGAGAGGTCAAGGTCAGTGGAGGAGAGACAGGAACCGAGTGAG AGGTCAAGGTCAGTGAGGAGAGACGGAACCGAGGGAGAGGTCAGGGTCAG T	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG04204.hp1 NA19002.hp2 others(1): Show HG00408.hp1 HG04204.hp1 NA19002.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 others(1): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0045	a0001c0001t0004g0003 a0001c0001t0005g0203 a0001c0001t0006g0147 others(1): Show a0001c0001t0004g0003 a0001c0001t0005g0203 a0001c0001t0006g0147 a0001c0001t0045g0315	4	352	0.0114	-150	c.392 others(15): Show c.392-864_392-715del		SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5						chr18	TogoVar
SLC6A3_chr5_1387794_1450440	1422351	ATGCTGGG others(143): Show ATGCTGGGTGCCCACCACTGCCCAGTGCTGCCCAAGGTGCTGGGTGCCCA CCGCTGCCCACGGTGCTGCCCACGCTGCTGGGTACCCACCGCTGCCCACA GTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCACG C	A A	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04228.hp2 HG04115.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0021 a0001c0008t0007 a0001c0001t0021 a0001c0008t0007	a0001c0001t0021g0352 a0001c0008t0007g0351 a0001c0001t0021g0352 a0001c0008t0007g0351	2	373	0.0054	-150	c.654 others(15): Show c.654-487_654-338del		SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14						chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1423006	CCAGTGCT others(143): Show CCAGTGCTGCCCAAGGTGCTGGGTACCCACCACTGCCCACAGTACTGCCC AAGGTGCTGGGTACCCACCACTGCCCACAGTGCTGCCCACGCTGCTGGGT ACCCACTGCTGCCCAGTGCTGCCCACGGTGCTAGGTGCCCACCGCTGCCC A	C C	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04228.hp2 HG04115.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0021 a0001c0008t0007 a0001c0001t0021 a0001c0008t0007	a0001c0001t0021g0352 a0001c0008t0007g0351 a0001c0001t0021g0352 a0001c0008t0007g0351	2	373	0.0054	-150	c.654 others(16): Show c.654-1142_654-993del		SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14						chr5	TogoVar
SMOC2_chr6_168436184_168672992	168567972	CACAGGCG others(143): Show CACAGGCGAAGACCGGATGGTGTGAGTCGGTGTCTCATATTAGAATTTAG TGCATCTTCTCTTCAGATGAGCAGCCACAGGCGAAGACTGGATGGTGTGA GTCGGTGTCTCATATTAGAATTTAGTGCATCTTCTCTTCAGATGAGCAGC T	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02572.hp1 HG02572.hp2 others(4): Show HG01069.hp2 HG02572.hp1 HG02572.hp2 HG02809.hp2 HG04184.hp2 NA19030.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0124 a0001c0001t0001g0164 a0001c0002t0002g0032 others(4): Show a0001c0001t0001g0124 a0001c0001t0001g0164 a0001c0002t0002g0032 a0001c0002t0002g0052 a0001c0002t0002g0054 a0001c0002t0002g0064 a0001c0002t0002g0180	7	180	0.0389	-150	c.637 others(19): Show c.637+18842_637+18991del		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168568045	GCCACAGG others(143): Show GCCACAGGCGAAGACTGGATGGTGTGAGTCGGTGTCTCATATTAGAATTT AGTGCATCTTCTCTTCAGATGAGCAGCTACAGGCGAAGACCGGATGGTGT GAGTCGGTGTCTCATATTAGAATTTAGTGCATCTTCTCTTCAGATGAGCA A	G G	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0045 a0001c0002t0008g0045	1	180	0.0056	-150	c.637 others(19): Show c.637+18844_637+18993del		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168592681	GGGCATCT others(143): Show GGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTCCTTCCTGAGGCCTCA CGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTTCTTCCTGAGGCCTC ACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCT C	G G	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0066 a0001c0002t0002g0066	1	180	0.0056	-150	c.638 others(17): Show c.638-6136_638-5987del		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12						chr6	TogoVar
SMOC2_chr6_168436184_168672992	168594426	GCATCTTT others(143): Show GCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACG GGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCGC GGGCATCTTTCTAGAGGATCTCTGAGCTCCTCCTCCTTCCTGAGGCCTCG C	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0035 a0001c0002t0002g0035	1	180	0.0056	-150	c.638 others(17): Show c.638-4391_638-4242del		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12						chr6	TogoVar
SPOCK3_chr4_166728384_167239494	167222983	TTATATTT others(143): Show TTATATTTTATATATGAATATATATTTTATATATGAATATATAATATATT ATATTTTATATATGAATATATATTTTATATATGAATATATATTTTATATA TGAATATATATTTTATATATGAATATATAATATATATTTTATATATGAAT A	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02257.hp1 NA20805.hp1 HG01261.hp1 HG02257.hp1 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0001c0001t0013 a0003c0007t0001 a0001c0001t0001 a0001c0001t0013 a0003c0007t0001	a0001c0001t0001g0066 a0001c0001t0013g0062 a0003c0007t0001g0073 a0001c0001t0001g0066 a0001c0001t0013g0062 a0003c0007t0001g0073	3	144	0.0208	-150	c.189 others(19): Show c.189+10852_189+11001del		SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10						chr4	TogoVar
SPON1_chr11_13957723_14273133	14160457	ATATATAT others(143): Show ATATATATATATTTATATATATATTTATATATATATATTTACATATATAT ATTTATATATATATTTACATATATATATTTATATATATATTTATATATAT ATTTATATATATATTTATATATATATTTACATATATATATTTATATATAT T	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01109.hp2 HG02074.hp1 others(3): Show HG00323.hp1 HG01109.hp2 HG02074.hp1 HG02683.hp1 HG03130.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0027 a0001c0001t0003g0181 a0001c0002t0001g0003 others(3): Show a0001c0001t0001g0027 a0001c0001t0003g0181 a0001c0002t0001g0003 a0001c0002t0001g0164 a0001c0003t0001g0086 a0001c0004t0001g0067	6	224	0.0268	-150	c.825 others(19): Show c.825+24899_825+25048del		SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	6/15					INFO_REALIGN_3_PRIME	chr11	TogoVar
STK32B_chr4_5046480_5505989	5316388	AATATATT others(143): Show AATATATTACATATATAATATATAATATATATTACATATATAATATATAA TATATATTACATATATAATATATAATATATATTACATATATAATATATAA TATATATTACATATATAATATATAATATATATTACATATATAATATATAA T	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0091 a0001c0001t0003g0091	1	170	0.0059	-150	c.261 others(19): Show c.261-14758_261-14609del		STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr4	TogoVar
SUN1_chr7_827476_879934	876314	CCACGTGT others(143): Show CCACGTGTTGCCTGCGGACCCGCCTCTGGGTCACGTGTTGCCTGCGGACC CGCCTCTGGGTCACGTGTTGCCTGCGGGCCCGCCCCTGGGTCACGTGTTG CCTGCGGACCCGCCCCTGGGTCACGTGTTGCCTGCGGACCCGCCCCTGGG T	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02559.hp1 HG02965.hp2 others(10): Show HG02257.hp2 HG02559.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03195.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG06807.hp2 NA19043.hp2 NA20129.hp1	a0001 a0002 a0018 others(1): Show a0001 a0002 a0018 a0019	a0001c0006 a0002c0002 a0018c0027 others(1): Show a0001c0006 a0002c0002 a0018c0027 a0019c0028	a0001c0006t0001 a0002c0002t0001 a0018c0027t0001 others(1): Show a0001c0006t0001 a0002c0002t0001 a0018c0027t0001 a0019c0028t0001	a0001c0006t0001g0039 a0001c0006t0001g0040 a0001c0006t0001g0049 others(10): Show a0001c0006t0001g0039 a0001c0006t0001g0040 a0001c0006t0001g0049 a0001c0006t0001g0050 a0001c0006t0001g0051 a0001c0006t0001g0052 a0001c0006t0001g0053 a0001c0006t0001g0054 a0001c0006t0001g0055 a0001c0006t0001g0108 a0002c0002t0001g0030 a0018c0027t0001g0056 a0019c0028t0001g0057	13	418	0.0311	-150	c.29 others(11): Show c.2984_*3133del		SUN1	ENSG00000164828.18	transcript	ENST00000401592.6	protein_coding					1381		chr7	TogoVar
TAF13_chr1_109059140_109081003	109071971	TATATACA others(143): Show TATATACACACATATATATATATATATATATATATATATATATACACACA CATATATATATATATATATATATACACACACATATATATATATATATATA TATATACACACACATATATATATATATATATATATATATATATATACACA C	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01167.hp2 HG01891.hp1 others(7): Show HG00741.hp2 HG01167.hp2 HG01891.hp1 HG02155.hp2 HG02922.hp1 HG03225.hp2 NA18952.hp1 NA18998.hp1 NA19011.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0013	a0001c0001t0002g0156 a0001c0001t0003g0033 a0001c0001t0003g0157 others(6): Show a0001c0001t0002g0156 a0001c0001t0003g0033 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0004g0175 a0001c0001t0004g0199 a0001c0001t0005g0203 a0001c0001t0006g0193 a0001c0001t0013g0052	10	414	0.0242	-150	c.106 others(17): Show c.106+2866_106+3015del		TAF13	ENSG00000197780.11	transcript	ENST00000338366.6	protein_coding	2/3						chr1	TogoVar
TBC1D9_chr4_140615782_140761385	140760519	CACGCTTC others(143): Show CACGCTTCGGTCTCCCAAAATTCTGGGATTACAGGCGTGAGCCACCGCAC CCAGCCGTGTCTTTCTGTCCCTCAGATCTCTCACTCTCTCCTCCAACCCT AATAGGGTTCCTATTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC T	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0279 a0001c0001t0003g0279	1	298	0.0034	-150	c.-46 others(11): Show c.-4624_-4475del		TBC1D9	ENSG00000109436.8	transcript	ENST00000442267.3	protein_coding					4135		chr4	TogoVar
TCF12_chr15_56913644_57294853	57170641	TAATATAT others(143): Show TAATATATATATTATATAAAATATATATATATATAATATATTATATATAA TATATATTATATATAATATATAATATATATATTATATATTATATATAATA TATATTATATATTATATATTATATATATATTATATATAATATATATATAT A	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00741.hp2 HG01175.hp1 others(16): Show HG00099.hp2 HG00741.hp2 HG01175.hp1 HG01255.hp2 HG01361.hp2 HG02074.hp2 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG03017.hp1 HG03654.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp1 NA18941.hp1 NA18952.hp1 NA19012.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0033 a0001c0001t0002 a0001c0001t0033	a0001c0001t0002g0003 a0001c0001t0002g0235 a0001c0001t0002g0236 others(16): Show a0001c0001t0002g0003 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0239 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0286 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0033g0315	19	330	0.0576	-150	c.390 others(17): Show c.390+4177_390+4326del		TCF12	ENSG00000140262.18	transcript	ENST00000333725.10	protein_coding	6/20					INFO_REALIGN_3_PRIME	chr15	TogoVar
TENM2_chr5_166974029_168269157	167974177	GAGGAAGG others(143): Show GAGGAAGGAAGGAAGGAAGGGAGAAAGGGAGGGAGGGAGGGAGGGAGGGA GGAAGGAAGGAAGGAAGGGAAGGAAGGAAGGGAGGAAAGGAGGGAGGAAG GAAGGAAGGAAGGAAGGAAGGGAAGGAAGGAAGGGAGGAAAGGAGGGAGG A	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02451.hp2 HG02615.hp1 others(6): Show HG02145.hp1 HG02451.hp2 HG02615.hp1 HG02622.hp1 HG02818.hp1 HG03130.hp2 HG03486.hp1 HG03516.hp1 NA19043.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0009	a0001c0003 a0001c0027 a0001c0029 others(5): Show a0001c0003 a0001c0027 a0001c0029 a0002c0032 a0004c0009 a0005c0034 a0005c0035 a0009c0033	a0001c0003t0022 a0001c0027t0002 a0001c0029t0003 others(6): Show a0001c0003t0022 a0001c0027t0002 a0001c0029t0003 a0002c0032t0005 a0004c0009t0003 a0004c0009t0018 a0005c0034t0025 a0005c0035t0001 a0009c0033t0012	a0001c0003t0022g0020 a0001c0027t0002g0031 a0001c0029t0003g0019 others(6): Show a0001c0003t0022g0020 a0001c0027t0002g0031 a0001c0029t0003g0019 a0002c0032t0005g0018 a0004c0009t0003g0027 a0004c0009t0018g0033 a0005c0034t0025g0002 a0005c0035t0001g0039 a0009c0033t0012g0046	9	54	0.1667	-150	c.948 others(19): Show c.948-18747_948-18598del		TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	6/30					INFO_REALIGN_3_PRIME	chr5	TogoVar
TMCC1_chr3_129642792_129898711	129818401	TAAGAAAC others(143): Show TAAGAAACTTTTAAAGAAAAGTTTTAAAGAAACTTTTAAAGAAAAGTTTT AAAGAAACTTTTAAAGAAAAGTTTTAAAGAAACTTTTAAAGAAAAGTTTT AAAGAAACTTTTAAAGAAAAGTTTTAAAGAAACTTTTAAAGAAAAGTTTT A	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00423.hp1 others(61): Show HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG01099.hp1 HG01169.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01975.hp2 HG02055.hp2 HG02056.hp2 HG02257.hp1 HG02293.hp1 HG02523.hp2 HG02602.hp2 HG02622.hp2 HG02698.hp2 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG03017.hp1 HG03098.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03579.hp1 HG03688.hp1 HG03710.hp2 HG03942.hp1 HG03942.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18945.hp1 NA18952.hp1 NA18955.hp2 NA18968.hp2 NA18970.hp1 NA18971.hp2 NA18974.hp2 NA18980.hp1 NA19004.hp1 NA19012.hp1 NA19030.hp1 NA19057.hp2 NA19062.hp1 NA19070.hp2 NA19090.hp2 NA20300.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0023 a0001c0004t0003 a0002c0003t0012 a0002c0003t0018	a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0040 others(61): Show a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0103 a0001c0001t0001g0109 a0001c0001t0002g0057 a0001c0001t0002g0082 a0001c0001t0002g0113 a0001c0001t0002g0136 a0001c0001t0002g0200 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0003g0043 a0001c0001t0003g0149 a0001c0001t0003g0206 a0001c0001t0003g0226 a0001c0001t0003g0236 a0001c0001t0003g0238 a0001c0001t0003g0241 a0001c0001t0004g0046 a0001c0001t0004g0073 a0001c0001t0004g0086 a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0004g0190 a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0006g0005 a0001c0001t0006g0012 a0001c0001t0010g0032 a0001c0001t0010g0036 a0001c0001t0010g0085 a0001c0001t0013g0191 a0001c0001t0016g0150 a0001c0001t0016g0151 a0001c0001t0017g0001 a0001c0001t0019g0020 a0001c0001t0023g0213 a0001c0004t0003g0230 a0002c0003t0012g0034 a0002c0003t0012g0035 a0002c0003t0018g0004	64	258	0.2481	-150	c.576 others(17): Show c.576+9252_576+9401del		TMCC1	ENSG00000172765.19	transcript	ENST00000393238.8	protein_coding	4/6						chr3	TogoVar
TMEM63C_chr14_77176798_77264495	77235535	GGAGGATC others(143): Show GGAGGATCTGGGGAGACTGTGATGGGTGGGAGGGAGCAGGGAGCCCTAGG AGACTGTGATGGGTGGGGAAGGTGTCCAGGGGGACTGCAGTGGGTGGGGG TCTGGGGAGACTGTGGTGGGTGGGGGGTCTGGGGAGACTGTGGTGGGTGG C	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02647.hp2 HG02717.hp2 others(7): Show HG01081.hp1 HG02647.hp2 HG02717.hp2 HG02886.hp1 HG02895.hp2 HG02922.hp1 HG03139.hp2 HG03195.hp2 HG03516.hp1 NA18906.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0021 a0003c0008 a0001c0001 a0001c0021 a0003c0008	a0001c0001t0004 a0001c0001t0008 a0001c0001t0011 others(3): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0011 a0001c0021t0018 a0003c0008t0004 a0003c0008t0022	a0001c0001t0004g0190 a0001c0001t0008g0263 a0001c0001t0011g0201 others(7): Show a0001c0001t0004g0190 a0001c0001t0008g0263 a0001c0001t0011g0201 a0001c0001t0011g0259 a0001c0001t0011g0260 a0001c0001t0011g0264 a0001c0001t0011g0265 a0001c0021t0018g0266 a0003c0008t0004g0314 a0003c0008t0022g0313	10	322	0.0311	-150	c.543 others(16): Show c.543-1087_543-938del		TMEM63C	ENSG00000165548.11	transcript	ENST00000298351.5	protein_coding	8/23					INFO_REALIGN_3_PRIME	chr14	TogoVar
TNC_chr9_115014575_115123157	115095510	ATATGTAT others(143): Show ATATGTATATATATGTATATATATATGTATATATATGTATATATATGTAT ATATATGTATATATATGTATATATATGTATATATATGTATATATATATGT ATATATGTATATATATATGTATATATATGTATATATATATGTATATATAT G	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00423.hp2 others(38): Show HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG03927.hp1 NA18942.hp1 NA18942.hp2 NA18945.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18961.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18975.hp1 NA18982.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp2 NA18995.hp2 NA19000.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp2 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19067.hp1 NA19068.hp1 NA19074.hp1 NA19082.hp1 NA19090.hp1	a0002 a0007 a0010 others(8): Show a0002 a0007 a0010 a0015 a0016 a0020 a0025 a0035 a0037 a0042 a0054	a0002c0001 a0007c0006 a0007c0086 others(10): Show a0002c0001 a0007c0006 a0007c0086 a0010c0008 a0015c0029 a0015c0040 a0016c0043 a0020c0030 a0025c0039 a0035c0085 a0037c0084 a0042c0089 a0054c0080	a0002c0001t0007 a0007c0006t0003 a0007c0006t0007 others(15): Show a0002c0001t0007 a0007c0006t0003 a0007c0006t0007 a0007c0006t0016 a0007c0006t0017 a0007c0086t0020 a0010c0008t0001 a0010c0008t0003 a0010c0008t0007 a0015c0029t0003 a0015c0040t0003 a0016c0043t0009 a0020c0030t0009 a0025c0039t0003 a0035c0085t0003 a0037c0084t0007 a0042c0089t0009 a0054c0080t0003	a0002c0001t0007g0018 a0007c0006t0003g0028 a0007c0006t0003g0052 others(37): Show a0002c0001t0007g0018 a0007c0006t0003g0028 a0007c0006t0003g0052 a0007c0006t0007g0001 a0007c0006t0007g0006 a0007c0006t0007g0019 a0007c0006t0007g0035 a0007c0006t0007g0037 a0007c0006t0007g0043 a0007c0006t0007g0045 a0007c0006t0007g0051 a0007c0006t0016g0050 a0007c0006t0017g0012 a0007c0006t0017g0039 a0007c0086t0020g0044 a0010c0008t0001g0077 a0010c0008t0003g0013 a0010c0008t0003g0014 a0010c0008t0003g0015 a0010c0008t0003g0017 a0010c0008t0003g0023 a0010c0008t0003g0027 a0010c0008t0003g0032 a0010c0008t0007g0021 a0015c0029t0003g0010 a0015c0029t0003g0024 a0015c0029t0003g0025 a0015c0040t0003g0036 a0015c0040t0003g0040 a0016c0043t0009g0016 a0016c0043t0009g0020 a0020c0030t0009g0029 a0020c0030t0009g0048 a0020c0030t0009g0049 a0025c0039t0003g0041 a0025c0039t0003g0042 a0035c0085t0003g0046 a0037c0084t0007g0038 a0042c0089t0009g0022 a0054c0080t0003g0047	41	366	0.1120	-150	c.-13 others(19): Show c.-136-4506_-136-4357del		TNC	ENSG00000041982.17	transcript	ENST00000350763.9	protein_coding	1/27						chr9	TogoVar
TNC_chr9_115014575_115123157	115095532	ATATGTAT others(143): Show ATATGTATATATATGTATATATATGTATATATATGTATATATATGTATAT ATATGTATATATATGTATATATATATGTATATATGTATATATATATGTAT ATATATGTATATATATATGTATATATATGTATATATATATGTATATATAT G	A A	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0010 a0010	a0010c0008 a0010c0008	a0010c0008t0003 a0010c0008t0003	a0010c0008t0003g0034 a0010c0008t0003g0034	1	366	0.0027	-150	c.-13 others(19): Show c.-136-4528_-136-4379del		TNC	ENSG00000041982.17	transcript	ENST00000350763.9	protein_coding	1/27						chr9	TogoVar
TNK2_chr3_195858364_195913551	195880618	CCCCCCCA others(143): Show CCCCCCCAGCAATGCCCCTTGAAGAGGACACAGCATATATCCCTGTATCA CCTAACTCAGCAATGACCCTCGGAGAGGACACAGCATCTATCCCTGTAAC ACCCCCCCAGCAATGCCCCTTGGAGAGGACACAGCATCTATCCCTGTAAC A	C C	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02165.hp2 HG04115.hp2 HG02132.hp1 HG02165.hp2 HG04115.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0003c0054 a0001c0003 a0003c0054	a0001c0003t0005 a0003c0054t0001 a0001c0003t0005 a0003c0054t0001	a0001c0003t0005g0197 a0001c0003t0005g0199 a0003c0054t0001g0134 a0001c0003t0005g0197 a0001c0003t0005g0199 a0003c0054t0001g0134	3	372	0.0081	-150	c.887 others(17): Show c.887+1283_887+1432del		TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	6/15						chr3	TogoVar
TPO_chr2_1408463_1548673	1489946	GAGCAGTG others(143): Show GAGCAGTGTAAGAGCCGCCACGTGGGTCCCACACAGGGGGAGTCACGACA CAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTCGCGACA CAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTCACGACA C	G G	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0007 a0007	a0007c0026 a0007c0026	a0007c0026t0003 a0007c0026t0003	a0007c0026t0003g0052 a0007c0026t0003g0052	1	130	0.0077	-150	c.176 others(19): Show c.1768+1977_1768+2126del		TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	10/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1490218	AGGGTCCC others(143): Show AGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCTGCCACG TGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACG AGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACG T	A A	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG03654.hp2 HG04204.hp2 others(4): Show HG02080.hp2 HG03654.hp2 HG04204.hp2 NA18998.hp2 NA19011.hp2 NA19088.hp2 NA20905.hp2	a0003 a0003	a0003c0003 a0003c0006 a0003c0003 a0003c0006	a0003c0003t0001 a0003c0003t0004 a0003c0003t0005 others(1): Show a0003c0003t0001 a0003c0003t0004 a0003c0003t0005 a0003c0006t0004	a0003c0003t0001g0046 a0003c0003t0004g0016 a0003c0003t0005g0001 others(3): Show a0003c0003t0001g0046 a0003c0003t0004g0016 a0003c0003t0005g0001 a0003c0003t0005g0043 a0003c0006t0004g0100 a0003c0006t0004g0103	7	130	0.0539	-150	c.176 others(19): Show c.1768+2270_1768+2419del		TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	10/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
TULP4_chr6_158307465_158516828	158349473	GATGGGTT others(143): Show GATGGGTTGGCAGCTGGGCAGAGGTGCTCCTCACCTCCCAGACGAAGGGT GGCCGGGCAGAGGCGCTCCTCACATCCCAGACGATGGGTGGCCGGGCAGA GGCGCTCCTCACCTCCCAGATAGGGTGGCAGCCGGGCAGAGGCGCCCCTC A	G G	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01884.hp1 HG02738.hp1 HG01255.hp1 HG01884.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0009 a0001c0001 a0001c0007 a0001c0009	a0001c0001t0002 a0001c0007t0019 a0001c0009t0082 a0001c0001t0002 a0001c0007t0019 a0001c0009t0082	a0001c0001t0002g0121 a0001c0007t0019g0124 a0001c0009t0082g0125 a0001c0001t0002g0121 a0001c0007t0019g0124 a0001c0009t0082g0125	3	268	0.0112	-150	c.252 others(19): Show c.252+35206_252+35355del		TULP4	ENSG00000130338.13	transcript	ENST00000367097.8	protein_coding	1/13						chr6	TogoVar
TWIST2_chr2_238843085_238915534	238871185	ACACACAC others(143): Show ACACACACATCACATACCACACACAAACCACACCCCCCCACACACACAGC ACACACCACACACAAACCACGCACCCCATGCACACACCACACACCACATC CCACACACTCCCCACACACATCACATACCACACACAAGCCACACAACCCC C	A A	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0231 a0001c0001t0003g0231	1	338	0.0030	-150	c.35 others(19): Show c.35+22460_*35+22609del		TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr2	TogoVar
TYMS_chr18_652653_678578	666891	AGATGGTG others(143): Show AGATGGTGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGATGGAG ATGGTGATGGTGATGGAGATGGAGATGGTGATGGAGATGGAGATGGTGAT GGTGATGGAGATGGTGATGGTGATGGAGATGGAGATGGTGATGGAGATGG T	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG01346.hp2 others(22): Show HG00438.hp2 HG00544.hp1 HG01346.hp2 HG01975.hp2 HG01981.hp2 HG02258.hp1 HG02280.hp1 HG02723.hp1 HG02897.hp2 HG03098.hp2 HG03130.hp1 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03492.hp1 HG03942.hp1 HG03942.hp2 NA18612.hp1 NA18970.hp2 NA18977.hp2 NA18998.hp2 NA19043.hp2 NA19072.hp2 NA19082.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0002t0001 a0001c0002t0005	a0001c0001t0001g0044 a0001c0001t0001g0090 a0001c0001t0001g0156 others(21): Show a0001c0001t0001g0044 a0001c0001t0001g0090 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0002g0257 a0001c0001t0003g0256 a0001c0001t0003g0403 a0001c0001t0005g0154 a0001c0001t0005g0413 a0001c0001t0006g0376 a0001c0001t0008g0089 a0001c0001t0008g0093 a0001c0002t0001g0018 a0001c0002t0001g0155 a0001c0002t0001g0162 a0001c0002t0001g0185 a0001c0002t0005g0098 a0001c0002t0005g0165 a0001c0002t0005g0166 a0001c0002t0005g0167 a0001c0002t0005g0168 a0001c0002t0005g0169 a0001c0002t0005g0170	25	482	0.0519	-150	c.455 others(17): Show c.455-2163_455-2014del		TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr18	TogoVar
TYMS_chr18_652653_678578	667226	GTGATGGA others(143): Show GTGATGGAGATGGAGATGGTGATGGTGATGGTGATGGAGATGGTGATGGT GATGGGATGGTGATGGAGATGGTGATGGTGATGGTGATGGAGATGGTGAT GGTGATGGAGATGGTGATGGAGATGGTGATGGTGATGGAGATGGTGATGG T	G G	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0410 a0001c0001t0010g0410	1	482	0.0021	-150	c.455 others(17): Show c.455-1845_455-1696del		TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6						chr18	TogoVar
TYW3_chr1_74728152_74771677	74732048	CTGGGCTG others(143): Show CTGGGCTGTGGGAAGGGGCCCTACCTAGGAGAAGAAATCAAATCCCCTAC AGCTGGGCTGTGCGAAGGGGCACTACCTAGGAGAAGAAATCCCCTACAGC TGGGCTGTGGGAAGGAGCCCTACCTAGGAGAAATCCCCTACAGCTGACAG G	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0133 a0001c0001t0005g0133	1	332	0.0030	-150	c.-11 others(11): Show c.-1196_-1047del		TYW3	ENSG00000162623.16	transcript	ENST00000370867.8	protein_coding					1103		chr1	TogoVar
UMODL1_chr21_42066317_42147996	42078116	CCAACACC others(143): Show CCAACACCTCCATCACCAACAGAAACCAGGCAGGGCCAGCTGACCCCAGA GCAACACCTCCATCACCAATAGAAACCAGGCGGGGCCAGCTGACCCCAGA GCAACACCTCCATCACCAATAGAAACCAGGCGGGGCCAGCTGACCCCAGA G	C C	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0013 a0013	a0013c0163 a0013c0163	a0013c0163t0005 a0013c0163t0005	a0013c0163t0005g0139 a0013c0163t0005g0139	1	400	0.0025	-150	c.319 others(17): Show c.319+1900_319+2049del		UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	2/22					INFO_REALIGN_3_PRIME	chr21	TogoVar
UMODL1_chr21_42066317_42147996	42078435	CAGAAACC others(143): Show CAGAAACCAGGCGGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAA CAGAAGCCAGGTGGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAA CAGAAACCAGGCGGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAA T	C C	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0038 a0038	a0038c0065 a0038c0065	a0038c0065t0001 a0038c0065t0001	a0038c0065t0001g0262 a0038c0065t0001g0262	1	400	0.0025	-150	c.319 others(17): Show c.319+2243_319+2392del		UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	2/22					INFO_REALIGN_3_PRIME	chr21	TogoVar
UMODL1_chr21_42066317_42147996	42078496	TGGGGCCA others(143): Show TGGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAACAGAAACCAGG CGGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAATAGAAACCAGG CGGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAACAGAAACCAGG C	T T	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02615.hp2 HG04184.hp1 others(1): Show HG02074.hp1 HG02615.hp2 HG04184.hp1 NA20752.hp2	a0001 a0019 a0059 others(1): Show a0001 a0019 a0059 a0117	a0001c0008 a0019c0016 a0059c0168 others(1): Show a0001c0008 a0019c0016 a0059c0168 a0117c0136	a0001c0008t0001 a0019c0016t0004 a0059c0168t0020 others(1): Show a0001c0008t0001 a0019c0016t0004 a0059c0168t0020 a0117c0136t0003	a0001c0008t0001g0211 a0019c0016t0004g0178 a0059c0168t0020g0150 others(1): Show a0001c0008t0001g0211 a0019c0016t0004g0178 a0059c0168t0020g0150 a0117c0136t0003g0213	4	400	0.0100	-150	c.319 others(17): Show c.319+2338_319+2487del		UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	2/22					INFO_REALIGN_3_PRIME	chr21	TogoVar
UNC5A_chr5_176805559_176885898	176859181	GGCTGCTA others(143): Show GGCTGCTAGAATGCCCTTGCTAGAGGGCATAGCTGCTAGAATGTCCTTGC TAGAGGGCATAGCTGCTAGAATGCCCTTGCTAGAGGGCATAGCTGCTACA ATGTCCTTGCTAGAGGGCATGGCTGCTAGAATGCCCTTGCTAGAGGGCAT A	G G	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19057.hp2 NA19002.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0138 a0001c0001t0001g0139	2	268	0.0075	-150	c.71- others(15): Show c.71-3413_71-3264del		UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr5	TogoVar
UNC5A_chr5_176805559_176885898	176859484	AGCTGCTA others(143): Show AGCTGCTAGAATGCCCTTGCTAGAGGGCATAGCTGCTAGAATGTCCTTGC TAGAGGGCATAGCTGCTAGAATGTCCTTGCTAGAGGGCATGGCTGCTAGA ATGTCCTTGCTAGAGGGCATGGCTGCTACAATGTCCTTGCTAGAGGGCAT G	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG02055.hp2 others(13): Show HG01243.hp1 HG01884.hp2 HG02055.hp2 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02896.hp2 HG02970.hp2 HG03041.hp2 HG03195.hp1 HG03453.hp2 HG03486.hp2 HG06807.hp1 NA18906.hp2 NA19030.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0004t0002	a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0018 others(13): Show a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0099 a0001c0001t0001g0229 a0001c0001t0001g0236 a0001c0001t0001g0251 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0001t0002g0257 a0001c0001t0008g0046 a0001c0004t0002g0078	16	268	0.0597	-150	c.71- others(15): Show c.71-3050_71-2901del		UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr5	TogoVar
UNC5B_chr10_71207570_71307864	71296709	CCAGATAT others(143): Show CCAGATATTCCAGCTGCATACCACTCTGGCAGAGGTGAGGGAAGTCGGGG CCACATATTCCAGCTGCACACCACACTGGCGGAGGTGAGGGAAGGGTGGG GCAGATATTCCAGCTGCACACCACGCTGGCGGAGGTGAGGGAAGGGTGGG G	C C	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG02630.hp2 HG03209.hp1 HG03225.hp1 HG02630.hp2 HG03209.hp1 HG03225.hp1	a0011 a0018 a0011 a0018	a0011c0014 a0018c0022 a0011c0014 a0018c0022	a0011c0014t0018 a0018c0022t0018 a0011c0014t0018 a0018c0022t0018	a0011c0014t0018g0010 a0011c0014t0018g0106 a0018c0022t0018g0186 a0011c0014t0018g0010 a0011c0014t0018g0106 a0018c0022t0018g0186	3	368	0.0082	-150	c.247 others(13): Show c.2475_2490+134del	p.His others(5): Show p.His825fs	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	15/17	2891/6841	2475/2838	825/945		INFO_REALIGN_3_PRIME	chr10	TogoVar
UNC5D_chr8_35230475_35801540	35271323	GCATACAC others(143): Show GCATACACACGTGCATGTGTGTATGTATATGCATACACACGTGCACGTGT GTATGTATATGTACACACATGCACGTGTGTATGTATATGTATACACACAC ATATGTGTGTGTATGTATATGTATACACACATATGTGTGTAGGTATACCT A	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0031 a0001c0006t0004g0031	1	64	0.0156	-150	c.103 others(19): Show c.103+35437_103+35586del		UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16						chr8	TogoVar
USP40_chr2_233470526_233571782	233568296	TTATATAA others(143): Show TTATATAAGATTATAGTTATATAACCTTATATAAGATTATAGTTATATAA CCTTATATAAGATTATAGTTATATAACCTTATATAAGATTATAGTTATAT AACCTTATATAAGATTATAGTTATATAACCTTATATAAGATTATAGTTAT A	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	324	0.0031	-150	c.-17 others(11): Show c.-1782_-1633del		USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding					1515		chr2	TogoVar
VCX3B_chrX_8459830_8471510	8465970	CTGGAGGA others(143): Show CTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAAGAACCACTGAGTCA GGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAAGAAC CACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAG G	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00280.hp1 HG00323.hp2 HG00408.hp1 others(56): Show HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG01123.hp1 HG01257.hp2 HG01361.hp2 HG01934.hp1 HG01975.hp2 HG02129.hp1 HG02155.hp1 HG02698.hp1 HG02970.hp1 HG03654.hp1 HG03669.hp2 HG03927.hp1 HG03942.hp1 NA18942.hp2 NA18946.hp2 NA18947.hp2 NA18951.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18965.hp1 NA18966.hp1 NA18972.hp2 NA18977.hp1 NA18985.hp1 NA18999.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19030.hp2 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19060.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19070.hp1 NA19079.hp1 NA19080.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp2 NA19090.hp1 NA20752.hp1	a0001 a0013 a0023 others(6): Show a0001 a0013 a0023 a0024 a0026 a0031 a0050 a0081 a0082	a0001c0001 a0001c0060 a0001c0088 others(8): Show a0001c0001 a0001c0060 a0001c0088 a0013c0013 a0023c0026 a0024c0025 a0026c0032 a0031c0101 a0050c0058 a0081c0098 a0082c0034	a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 others(15): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 a0001c0001t0019 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0037 a0001c0060t0010 a0001c0088t0001 a0013c0013t0003 a0023c0026t0002 a0024c0025t0005 a0026c0032t0001 a0031c0101t0003 a0050c0058t0005 a0081c0098t0001 a0082c0034t0038	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0014 others(23): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0055 a0001c0001t0008g0001 a0001c0001t0008g0007 a0001c0001t0010g0012 a0001c0001t0019g0042 a0001c0001t0033g0056 a0001c0001t0034g0001 a0001c0001t0035g0001 a0001c0001t0037g0001 a0001c0060t0010g0012 a0001c0088t0001g0001 a0013c0013t0003g0004 a0013c0013t0003g0011 a0023c0026t0002g0006 a0024c0025t0005g0017 a0026c0032t0001g0007 a0026c0032t0001g0057 a0031c0101t0003g0040 a0050c0058t0005g0005 a0081c0098t0001g0001 a0082c0034t0038g0060	59	271	0.2177	-150	c.478 others(7): Show c.478_627del	p.Val others(13): Show p.Val160_Glu209del	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding	3/3	785/1175	478/741	160/246		INFO_REALIGN_3_PRIME	chrX	TogoVar
VCX3B_chrX_8459830_8471510	8466125	GGAACCAC others(143): Show GGAACCACTGAGTCAGGAGAGCGAGGTGGAAGAACCACTGAGTCAGGAGA GCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAAGAACCACTG AGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGATGGA A	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01081.hp2 HG03017.hp1 NA18969.hp1 HG01081.hp2 HG03017.hp1 NA18969.hp1	a0060 a0063 a0080 a0060 a0063 a0080	a0060c0093 a0063c0094 a0080c0097 a0060c0093 a0063c0094 a0080c0097	a0060c0093t0004 a0063c0094t0001 a0080c0097t0001 a0060c0093t0004 a0063c0094t0001 a0080c0097t0001	a0060c0093t0004g0002 a0063c0094t0001g0007 a0080c0097t0001g0007 a0060c0093t0004g0002 a0063c0094t0001g0007 a0080c0097t0001g0007	3	271	0.0111	-150	c.505 others(7): Show c.505_654del	p.Glu others(13): Show p.Glu169_Ser218del	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding	3/3	812/1175	505/741	169/246		INFO_REALIGN_3_PRIME	chrX	TogoVar
VCX3B_chrX_8459830_8471510	8466185	GGAACCAC others(143): Show GGAACCACTGAGTCAGGAGAGCGAGGTGGAAGAACCACTGAGTCAGGAGA GCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGATGGAAGAACCACTG AGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGATGGA A	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00140.hp1 HG00140.hp1	a0066 a0066	a0066c0082 a0066c0082	a0066c0082t0004 a0066c0082t0004	a0066c0082t0004g0002 a0066c0082t0004g0002	1	271	0.0037	-150	c.568 others(7): Show c.568_717del	p.Val others(13): Show p.Val190_Glu239del	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding	3/3	875/1175	568/741	190/246		INFO_REALIGN_3_PRIME	chrX	TogoVar
ZFYVE28_chr4_2264597_2423645	2396430	GGGGTGTC others(143): Show GGGGTGTCTGAGCTGATGGGACGGGCCATCCTGCAGAGGGGACACAAGGT GGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGCCATAAGG CGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGCCACAAGG C	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0003 a0003c0008t0003	a0003c0008t0003g0074 a0003c0008t0003g0074	1	290	0.0035	-150	c.39+ others(17): Show c.39+21705_39+21854del		ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	1/12						chr4	TogoVar
ZNF200_chr16_3217325_3240158	3235608	CGCCCTAC others(143): Show CGCCCTACTCTCCCCACCCCCCACCCCCCTACTCTCCCCACCCCCCACCC CCCACCCCGCCACCCCCCACGGCGCCACCCCCCAACCCCCACCCCCCTAC TCTCCCCACCCCCCTACTCTCCCCACCCCCCTACTCTCCCCACCCCCTAC T	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 NA20129.hp1 HG01109.hp2 NA20129.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0012 a0001c0006t0012	a0001c0006t0012g0043 a0001c0006t0012g0044 a0001c0006t0012g0043 a0001c0006t0012g0044	2	390	0.0051	-150	c.-85 others(9): Show c.-853_-704del		ZNF200	ENSG00000010539.12	transcript	ENST00000414144.7	protein_coding					451		chr16	TogoVar

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