Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
RRH_chr4_109822972_109849942	109847485	AGATAGTT others(116): Show AGATAGTTGCCTGCATTAAAAATAAATGTGCTGGGATAAACCTTCCACAC ACTGAGATGACCTGGAAGAGTCTCAGAACACGTTCTTATTGGAGAACTTA GTCCTGCCACATCAGTAGTGGATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG03041.hp2 HG03195.hp1 HG02647.hp1 HG03041.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0026 a0001c0001t0009g0057 a0001c0001t0009g0026 a0001c0001t0009g0057	3	402	0.0075	-123	c.32 others(11): Show c.3289_*3411del		RRH	ENSG00000180245.7	transcript	ENST00000317735.7	protein_coding					2544		chr4	TogoVar
SCARB1_chr12_124771856_124868864	124839644	TCCCAACG others(116): Show TCCCAACGGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGG CACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGG GCCCCGATTTCTCCGCACCCTCAC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02622.hp2 HG03098.hp2 HG02559.hp1 HG02622.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0004t0014 a0001c0001t0001 a0001c0001t0003 a0001c0004t0014	a0001c0001t0001g0223 a0001c0001t0003g0226 a0001c0004t0014g0190 a0001c0001t0001g0223 a0001c0001t0003g0226 a0001c0004t0014g0190	3	356	0.0084	-123	c.127 others(19): Show c.127-22060_127-21938del		SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12						chr12	TogoVar
SEMA5A_chr5_9030033_9551075	9191881	AGTGTGAG others(116): Show AGTGTGAGTTTAGGTGAAGGGCTCAGCCCTGCCATGACCCATGTGTGAGT TTAGGTGAAGGGCTCAGCCCTGCCATGACCCATGTGTGAGTTTAGGTGAA GGGCTCAGCCCTGCCATGACCCAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03471.hp2 HG01243.hp2 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0007 a0002c0014 a0001c0007 a0002c0014	a0001c0007t0031 a0002c0014t0057 a0001c0007t0031 a0002c0014t0057	a0001c0007t0031g0012 a0002c0014t0057g0087 a0001c0007t0031g0012 a0002c0014t0057g0087	2	134	0.0149	-123	c.106 others(19): Show c.1069-1533_1069-1411del		SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	10/22						chr5	TogoVar
SENP1_chr12_48037897_48111079	48056548	TATATTAC others(116): Show TATATTACATATATAAATATATTATTTAATATATTACATATATAAATATA TTATTTAATATATTACATATATAAATATATTATTTAATATATTACATATA TAAATATATTATTTAATATATTAC	T T	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19091.hp1 NA19077.hp1 NA19091.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0350 a0001c0003t0008g0351 a0001c0003t0008g0350 a0001c0003t0008g0351	2	394	0.0051	-123	c.140 others(19): Show c.1407+7039_1407+7161del		SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	13/17						chr12	TogoVar
SERPINB9_chr6_2882270_2908309	2907737	TGTGTCGA others(116): Show TGTGTCGAGGTTGTGTGTGTGTGCTCGAGTACGTGTGTCGAGGTTGTGTG TGTGCTCGAGTACGTGTGTCGAGGTGTGTGCTCGAGTACGTGTGTCGAGG TTGTGTGTGTGTGTGCTCGAGTAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0344 a0001c0001t0016g0344	1	462	0.0022	-123	c.-46 others(11): Show c.-4670_-4548del		SERPINB9	ENSG00000170542.6	transcript	ENST00000380698.5	protein_coding					4429		chr6	TogoVar
SGCZ_chr8_14079845_15243431	14680661	CATAGATT others(116): Show CATAGATTGTACGGAGCAAGAAATCTCACAGATATAATTAGTGAAAAAAT ACATTAAAATGCTCTTATAAATATACTACATATATTCCAAAGCAGAAAAA GGCATGAGCCTGGTGAGGAGAGAT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG06807.hp1 HG02976.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0085 a0001c0001t0091 a0001c0001t0085 a0001c0001t0091	a0001c0001t0085g0059 a0001c0001t0091g0102 a0001c0001t0085g0059 a0001c0001t0091g0102	2	102	0.0196	-123	c.40- others(19): Show c.40-125858_40-125736del		SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7						chr8	TogoVar
SGTA_chr19_2749715_2788273	2772757	AGGCAGAA others(116): Show AGGCAGAAATGGGTGACGCGGCCACACGGCAGGGACACCGAGGGCAGAGA TGGGTGACGCGGCCACAGGGCAGGGACACCGAGGGCAGAGGTGGGTGACG CGGCCACAGGGCAGGGACACCGAG	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA18970.hp2 HG03579.hp2 NA18970.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0005 a0001c0003t0003 a0001c0003t0005	a0001c0003t0003g0052 a0001c0003t0005g0335 a0001c0003t0003g0052 a0001c0003t0005g0335	2	396	0.0051	-123	c.-23 others(17): Show c.-23-3789_-23-3667del		SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11						chr19	TogoVar
SGTA_chr19_2749715_2788273	2773197	AGGGACAC others(116): Show AGGGACACCGAGGGCAGAGATGGGTGACGCGGCCACACGGCAGGGACACC GAGGGCAGAGATGGGTGACGCGGCCACAGGGCAGGGACACCGAGGGCAGA GATGGGTGACGCGGCCACACGGCG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00423.hp2 others(72): Show HG00099.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00621.hp1 HG01081.hp2 HG01123.hp1 HG01361.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG02004.hp1 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02074.hp1 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02293.hp1 HG02300.hp2 HG02523.hp2 HG02922.hp1 HG03239.hp1 HG03486.hp1 HG03492.hp2 HG03688.hp1 HG03831.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp2 NA18612.hp2 NA18940.hp2 NA18943.hp1 NA18944.hp2 NA18946.hp2 NA18948.hp1 NA18950.hp1 NA18952.hp2 NA18955.hp2 NA18956.hp1 NA18957.hp2 NA18962.hp2 NA18964.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18975.hp2 NA18980.hp2 NA18984.hp2 NA18986.hp2 NA18990.hp1 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18999.hp2 NA19002.hp1 NA19007.hp1 NA19009.hp1 NA19066.hp1 NA19067.hp2 NA19070.hp1 NA19080.hp2 NA19084.hp1 NA19086.hp2 NA19091.hp1 NA19091.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0002 a0001c0003 a0001c0004 others(4): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0004c0017 a0006c0016	a0001c0002t0002 a0001c0003t0003 a0001c0004t0003 others(4): Show a0001c0002t0002 a0001c0003t0003 a0001c0004t0003 a0001c0005t0002 a0001c0008t0009 a0004c0017t0003 a0006c0016t0003	a0001c0002t0002g0001 a0001c0002t0002g0003 a0001c0002t0002g0010 others(58): Show a0001c0002t0002g0001 a0001c0002t0002g0003 a0001c0002t0002g0010 a0001c0002t0002g0017 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0059 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0075 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0082 a0001c0002t0002g0087 a0001c0002t0002g0091 a0001c0002t0002g0098 a0001c0002t0002g0102 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0121 a0001c0002t0002g0127 a0001c0002t0002g0166 a0001c0002t0002g0167 a0001c0002t0002g0172 a0001c0002t0002g0176 a0001c0003t0003g0139 a0001c0003t0003g0153 a0001c0003t0003g0154 a0001c0003t0003g0155 a0001c0003t0003g0158 a0001c0003t0003g0160 a0001c0004t0003g0131 a0001c0004t0003g0132 a0001c0005t0002g0067 a0001c0005t0002g0068 a0001c0008t0009g0090 a0001c0008t0009g0123 a0004c0017t0003g0157 a0006c0016t0003g0156	75	396	0.1894	-123	c.-23 others(17): Show c.-23-4229_-23-4107del		SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11						chr19	TogoVar
SGTA_chr19_2749715_2788273	2773339	GTGGGTGA others(116): Show GTGGGTGACGCGGCCACACGGCAGGGACACCGAGGGCAGAGGTGGGTGAC GCGGCCACACGGCAGGGACTCCGAGGGCAGAGGTGGGTGACGCGGCCACA CGGCAGGGACACCGAGGGCAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18747.hp1 NA18949.hp1 others(5): Show HG02056.hp1 NA18747.hp1 NA18949.hp1 NA18956.hp2 NA18967.hp2 NA18988.hp1 NA19066.hp2 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 others(5): Show a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0305 a0001c0001t0001g0318	8	396	0.0202	-123	c.-23 others(17): Show c.-23-4371_-23-4249del		SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11						chr19	TogoVar
SGTA_chr19_2749715_2788273	2773585	GTGGGTGA others(116): Show GTGGGTGACACGGCCACACGGCAGGGACTCCGAGGGCAGAGATGGGTGAC GCGGCCACAGGGCAGGGACACCGAGGGCAGAGATGGGTGACGCGGCCACA CGGCAGGGACACCGAGGGCAGAGA	G G	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18952.hp2 NA18980.hp2 others(3): Show NA18948.hp1 NA18952.hp2 NA18980.hp2 NA18986.hp2 NA19002.hp1 NA19066.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0003 a0004c0017 a0006c0016 a0001c0003 a0004c0017 a0006c0016	a0001c0003t0003 a0004c0017t0003 a0006c0016t0003 a0001c0003t0003 a0004c0017t0003 a0006c0016t0003	a0001c0003t0003g0154 a0001c0003t0003g0155 a0001c0003t0003g0158 others(3): Show a0001c0003t0003g0154 a0001c0003t0003g0155 a0001c0003t0003g0158 a0001c0003t0003g0160 a0004c0017t0003g0157 a0006c0016t0003g0156	6	396	0.0152	-123	c.-23 others(17): Show c.-23-4617_-23-4495del		SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11						chr19	TogoVar
SH3YL1_chr2_213144_269032	236058	TGGGCCAG others(116): Show TGGGCCAGGGGAGGCAGCATGGGCCAGGGGAGGCAGCATGGGTCAGGGGA GGCAGCAGCATGGGCCAGGGGAGGCAGCAGCATGGGCCAGGGGAGGCAGC ATGGGCCAGGGGAGGCAGCAGCAC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG00597.hp2 others(32): Show HG00423.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG01070.hp1 HG01168.hp2 HG01255.hp1 HG01255.hp2 HG01952.hp2 HG02074.hp1 HG02074.hp2 HG02165.hp1 HG02258.hp1 HG02293.hp2 HG02615.hp1 HG02809.hp1 HG03225.hp1 HG04204.hp2 HG06807.hp2 NA18612.hp1 NA18953.hp2 NA18963.hp1 NA18964.hp1 NA18971.hp1 NA18974.hp2 NA18984.hp1 NA18992.hp2 NA18998.hp2 NA19030.hp2 NA19060.hp1 NA19060.hp2 NA19068.hp2 NA19080.hp2 NA19086.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0014 others(28): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0191 a0001c0001t0001g0192	35	360	0.0972	-123	c.292 others(17): Show c.292-1909_292-1787del		SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding	4/9						chr2	TogoVar
SIGIRR_chr11_400716_419999	400903	GCCCCGCT others(116): Show GCCCCGCTCACCCCGGACCCCGCTCACCCCCGCCCCGCTCACCCCCGGCC CCGCTCACACCCGCCCCGCTCACCCCCGCCCCGCTCACCCCGGACCCCGC TCACCCCGGACCCCGCTCACACCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp2 NA19009.hp1 NA18986.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0202 a0001c0001t0001g0173 a0001c0001t0001g0202	2	242	0.0083	-123	c.48 others(11): Show c.4870_*4992del		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding					4812		chr11	TogoVar
SIGIRR_chr11_400716_419999	401443	CGCCCCGC others(116): Show CGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCC CCGCTCACCCCCGGCCCCGTTCACACCCGCCCCGCTCACACCCGCCCCGC TCACCCCCGGCCCGCTCACCCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0109 a0001c0006t0001g0109	1	242	0.0041	-123	c.43 others(11): Show c.4330_*4452del		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding					4272		chr11	TogoVar
SIGIRR_chr11_400716_419999	412323	CGGCGGGG others(116): Show CGGCGGGGGTGCCCAGCTCTGACCATGTCTGAATGCAGTCGGGGAGGGGG GTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGTGCCCAGCTCTG ACCATGTCTGGATACAGTCGGGCG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	1	242	0.0041	-123	c.-15 others(19): Show c.-154+2377_-153-2297del		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9						chr11	TogoVar
SLC12A7_chr5_1045384_1117063	1070250	GGGCATCA others(116): Show GGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGCATCAC ACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCA GCCCCCAGTGAGCCCCCAGCACAC	G G	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0014 a0001c0003t0003g0014	1	118	0.0085	-123	c.224 others(19): Show c.2241+3260_2241+3382del		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23						chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070608	GCCCCCAG others(116): Show GCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGT GAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAG CACACGGCATCACACTTATGCAGC	G G	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	118	0.0085	-123	c.224 others(19): Show c.2241+2902_2241+3024del		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23						chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071245	GAGCCCCC others(116): Show GAGCCCCCAGCACACGGTATCACACTTATGCAGCCCCCAGTGAGCCCCCA GTGAGCCCCCAGCACACGGTATCACACTTATGCAGCCCCCAGTGAGCCCC CAGCACACGGCATCACACTTATGC	G G	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0013 a0001c0005t0013	a0001c0005t0013g0077 a0001c0005t0013g0077	1	118	0.0085	-123	c.224 others(19): Show c.2241+2265_2241+2387del		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23						chr5	TogoVar
SLC39A14_chr8_22362278_22427736	22396422	GAGAGAGA others(116): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGGGGGGGGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGGGGGGGGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01261.hp1 HG02293.hp1 others(2): Show HG00735.hp2 HG01261.hp1 HG02293.hp1 HG02717.hp1 HG03669.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0005 a0001c0003 a0001c0004 a0001c0005	a0001c0003t0005 a0001c0004t0002 a0001c0005t0003 a0001c0003t0005 a0001c0004t0002 a0001c0005t0003	a0001c0003t0005g0026 a0001c0004t0002g0196 a0001c0004t0002g0197 others(2): Show a0001c0003t0005g0026 a0001c0004t0002g0196 a0001c0004t0002g0197 a0001c0005t0003g0112 a0001c0005t0003g0155	5	324	0.0154	-123	c.-15 others(17): Show c.-15-8273_-15-8151del		SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8						chr8	TogoVar
SLC39A14_chr8_22362278_22427736	22396423	AGAGAGAG others(116): Show AGAGAGAGAGAGAGAGAGAGAGAGAGGGGGGGGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGGGGGGGGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0200 a0001c0004t0002g0200	1	324	0.0031	-123	c.-15 others(17): Show c.-15-8272_-15-8150del		SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8						chr8	TogoVar
SMOC2_chr6_168436184_168672992	168654514	TACCTGAG others(116): Show TACCTGAGCTCCAACCAGATGTTAGGAACTCACCAACCCTGCACCTGAGC TCCAACCAGATGTTAGGAACTCACCAACCCTGCACCTGAGCTCCAACCAG ATGTTAGGAACTCACCAACCCTGC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02572.hp2 HG02602.hp1 others(4): Show HG01243.hp2 HG02572.hp2 HG02602.hp1 HG02895.hp2 HG02897.hp2 HG03654.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0115 a0001c0001t0001g0132 a0001c0002t0002g0001 others(4): Show a0001c0001t0001g0115 a0001c0001t0001g0132 a0001c0002t0002g0001 a0001c0002t0002g0022 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0054	7	180	0.0389	-123	c.128 others(19): Show c.1285+1916_1285+2038del		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	11/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
SNTG2_chr2_945849_1372613	1009254	TGGGTCGT others(116): Show TGGGTCGTGTGTATGGCAGCCACACCTGTGTCCCCAGGAAGACTGCTGGT TCTGATACTGGTGTGGGTCGTGTGTATGGCAGCCACACCTGTGTCCCCAG GAAGACATGCTGGTTCTGATACTG	T T	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0050 a0006c0009t0001g0050	1	190	0.0053	-123	c.72+ others(17): Show c.72+58188_72+58310del		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPPL2B_chr19_2323684_2360095	2347348	CTCTCTCC others(116): Show CTCTCTCCACACACACACACTCTCATTCGCCTGATTCCGTTCTCTCTCTC CACACACGCGCTCTCATTCGCCTGATTCCGTTCTCTCTCTCCACACACAC ACACTCTCATTCGCCTGATTCCGT	C C	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0200 a0001c0003t0001g0200	1	414	0.0024	-123	c.135 others(19): Show c.1354+2025_1354+2147del		SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	13/14					INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55517893	TCACCACC others(116): Show TCACCACCATCACTCACTCCACCATGATTCCTGACCCCACCACAACCCCT CAACCCTTCACCACCATGCAGCCCACCACAACCCCTCACTCCACAACCCC TCACCCCACCACGACCCCTCATCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01257.hp2 HG01258.hp2 NA18956.hp1 HG01257.hp2 HG01258.hp2 NA18956.hp1	a0020 a0046 a0020 a0046	a0020c0045 a0046c0057 a0020c0045 a0046c0057	a0020c0045t0002 a0046c0057t0001 a0020c0045t0002 a0046c0057t0001	a0020c0045t0002g0351 a0020c0045t0002g0359 a0046c0057t0001g0033 a0020c0045t0002g0351 a0020c0045t0002g0359 a0046c0057t0001g0033	3	412	0.0073	-123	c.369 others(9): Show c.3696_3818del	p.Thr others(15): Show p.Thr1233_Thr1273del	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	14/14	3850/4977	3696/4722	1232/1573		INFO_REALIGN_3_PRIME	chr19	TogoVar
STK32B_chr4_5046480_5505989	5064365	CTTATATA others(116): Show CTTATATACATATATAATATATAAATATATACTTATATACATATAATATA TAAATATATACTTATATACATATAATATATAAATATATACTTATATACAT ATAATATATAAATATATACTTATG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00438.hp2 others(16): Show HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG02083.hp2 HG02155.hp1 HG02155.hp2 HG02602.hp2 NA18944.hp1 NA18944.hp2 NA18952.hp2 NA18966.hp1 NA18971.hp1 NA18971.hp2 NA18974.hp2 NA19012.hp1 NA19081.hp1 NA19084.hp1 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 a0001c0001 a0002c0002 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0002c0002t0001 a0002c0002t0004 a0002c0002t0013 a0002c0004t0003	a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0039 others(16): Show a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0003g0024 a0001c0001t0003g0051 a0001c0001t0003g0053 a0001c0001t0003g0089 a0001c0001t0003g0091 a0001c0001t0003g0093 a0001c0001t0004g0052 a0002c0002t0001g0049 a0002c0002t0001g0068 a0002c0002t0001g0086 a0002c0002t0001g0088 a0002c0002t0001g0124 a0002c0002t0004g0090 a0002c0002t0004g0104 a0002c0002t0013g0023 a0002c0004t0003g0050	19	170	0.1118	-123	c.52+ others(17): Show c.52+12495_52+12617del		STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr4	TogoVar
STK32B_chr4_5046480_5505989	5316513	TATATATT others(116): Show TATATATTACATATATAATATATAATATATATTACATATATAATATATAA TATATATTACATATATAATATATAATATATATTACATATATAATATATAT TATATATTATATATATAATATATA	T T	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	170	0.0059	-123	c.261 others(19): Show c.261-14698_261-14576del		STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr4	TogoVar
STXBP3_chr1_108741674_108814523	108771563	ATAAATAT others(116): Show ATAAATATATATGATATATATCTATATATATCATATATAAATATATATGA TATATATCTATATATCATATATAAATATATATGATATATATCTATATATA TCATATATAAATATATATGATATC	A A	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0002 a0005c0008t0002	a0005c0008t0002g0140 a0005c0008t0002g0140	1	334	0.0030	-123	c.439 others(16): Show c.439-1099_439-977del		STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18					INFO_REALIGN_3_PRIME	chr1	TogoVar
TAFA5_chr22_48484553_48756932	48668230	ATCCCCCA others(116): Show ATCCCCCAGCACTCAGGGCCGCGTCTTCACTGGGAGCTGTAATCCCCCAG CACTCAGGACCGCGTCTTCACTGGGAGTGTTAATCCCCCAGCACTCAGGG CCGCATCTTCACTGGGAGCTGTAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00673.hp2 others(52): Show HG00140.hp1 HG00323.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01071.hp1 HG01099.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp2 HG01496.hp1 HG01515.hp1 HG01884.hp2 HG01952.hp1 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02056.hp2 HG02257.hp1 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02647.hp2 HG02723.hp1 HG02886.hp2 HG02922.hp1 HG03239.hp1 HG03471.hp1 HG03491.hp1 HG03579.hp2 HG03654.hp2 HG03831.hp1 HG03834.hp1 HG04115.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18944.hp2 NA18952.hp1 NA18972.hp1 NA18980.hp2 NA18994.hp1 NA18995.hp2 NA19002.hp1 NA19002.hp2 NA19030.hp2 NA19240.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0017 a0001c0001t0021 a0001c0001t0023 a0001c0001t0030 a0001c0001t0034 a0001c0004t0003	a0001c0001t0001g0012 a0001c0001t0001g0069 a0001c0001t0001g0072 others(52): Show a0001c0001t0001g0012 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0127 a0001c0001t0001g0142 a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0197 a0001c0001t0001g0217 a0001c0001t0001g0236 a0001c0001t0001g0256 a0001c0001t0002g0003 a0001c0001t0002g0030 a0001c0001t0002g0047 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0111 a0001c0001t0002g0159 a0001c0001t0002g0164 a0001c0001t0002g0167 a0001c0001t0002g0223 a0001c0001t0002g0239 a0001c0001t0002g0255 a0001c0001t0003g0022 a0001c0001t0003g0058 a0001c0001t0003g0063 a0001c0001t0003g0073 a0001c0001t0003g0077 a0001c0001t0003g0088 a0001c0001t0003g0110 a0001c0001t0003g0115 a0001c0001t0003g0122 a0001c0001t0003g0130 a0001c0001t0003g0138 a0001c0001t0003g0149 a0001c0001t0003g0228 a0001c0001t0005g0080 a0001c0001t0005g0143 a0001c0001t0006g0095 a0001c0001t0006g0135 a0001c0001t0006g0208 a0001c0001t0007g0023 a0001c0001t0007g0050 a0001c0001t0007g0148 a0001c0001t0008g0209 a0001c0001t0010g0224 a0001c0001t0011g0070 a0001c0001t0015g0013 a0001c0001t0017g0029 a0001c0001t0021g0229 a0001c0001t0023g0116 a0001c0001t0030g0169 a0001c0001t0034g0044 a0001c0004t0003g0226	55	258	0.2132	-123	c.262 others(19): Show c.262+21539_262+21661del		TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr22	TogoVar
TMEM255B_chr13_113754226_113821995	113800907	CGGGAGGT others(116): Show CGGGAGGTGAGGGGCACCGGGGACCCCCATATCTACACCTGCGGGAGGTG AGGGGCGCTGGGGACCCCCGTATCTACACCTGCGGGAGGTGAGGGGCGCT GGGGACCCCTATATCTACACCTGA	C C	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0076 a0011c0012t0076	a0011c0012t0076g0202 a0011c0012t0076g0202	1	260	0.0039	-123	c.509 others(14): Show c.509+10_509+132del		TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
TMEM63C_chr14_77176798_77264495	77235533	TGGGAGGA others(116): Show TGGGAGGATCTGGGGAGACTGTGATGGGTGGGAGGGAGCAGGGAGCCCTA GGAGACTGTGATGGGTGGGGAAGGTGTCCAGGGGGACTGCAGTGGGTGGG GGTCTGGGGAGACTGTGGTGGGTG	T T	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0017 a0001c0002t0001g0017	1	322	0.0031	-123	c.543 others(16): Show c.543-1087_543-965del		TMEM63C	ENSG00000165548.11	transcript	ENST00000298351.5	protein_coding	8/23					INFO_REALIGN_3_PRIME	chr14	TogoVar
TMOD3_chr15_51824653_51920725	51885825	CGGCCGGA others(116): Show CGGCCGGACAGAGGGGCTCCCCACTTCCCAGACGGGGCGGCCGGGCAGAG GCGCCCCCCACCTCCCAGACGGGGTGGCTGCCGGGCGGGGGCTGCCCCCC ACCTCCCTCCCGGACAGGGTGGCT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02886.hp1 HG03098.hp2 others(1): Show HG02559.hp1 HG02886.hp1 HG03098.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0025 a0001c0001t0046 a0001c0001t0009 a0001c0001t0025 a0001c0001t0046	a0001c0001t0009g0116 a0001c0001t0025g0115 a0001c0001t0025g0117 others(1): Show a0001c0001t0009g0116 a0001c0001t0025g0115 a0001c0001t0025g0117 a0001c0001t0046g0347	4	372	0.0108	-123	c.284 others(17): Show c.284-1757_284-1635del		TMOD3	ENSG00000138594.14	transcript	ENST00000308580.12	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr15	TogoVar
TPST1_chr7_66200334_66365443	66359251	TAACCTTA others(116): Show TAACCTTAGGACCCATTTCTTCACATGAGGAGGAATCAGGGTGCTGCCCC CTGGACACTTAAAGAACCTTAGGACCCATTTCTTCACATGAGGAATCAGG GTGCTGCCCCCTGGACACTTAAAG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02055.hp2 HG02572.hp2 others(9): Show HG01243.hp1 HG02055.hp2 HG02572.hp2 HG02818.hp1 HG02895.hp2 HG02976.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03471.hp1 NA19043.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0244 a0001c0001t0001g0245 others(9): Show a0001c0001t0001g0231 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0311	12	346	0.0347	-123	c.30 others(15): Show c.30-584_*30-462del		TPST1	ENSG00000169902.15	transcript	ENST00000304842.6	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr7	TogoVar
TRAF7_chr16_2150782_2183129	2164717	GGCCTGGT others(116): Show GGCCTGGTCGCATGGTTAAGCGTGTGAGTGCTGCGTGGCCTGGCCTGGTC GCATGGTTAAGCGTGTTAGTGCTGCGTGGCCTGGCCTGGTCGCATGGTTA AGCGTGTGAGTGCTGTGTGGCGCA	G G	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	320	0.0031	-123	c.81+ others(13): Show c.81+905_82-851del		TRAF7	ENSG00000131653.14	transcript	ENST00000326181.11	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
TRIM67_chr1_231157058_231226565	231210927	GTTTCAGC others(116): Show GTTTCAGCTACTTGGGAGGCCGAGGCAGGAGGATCGCTTGTGCCCAGGAG TTCAAGACCAGCCTGGGCAATATAGTGAGACCCTCCTCTCTACCAAAAAA AAAAAATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00609.hp1 HG00642.hp1 others(25): Show HG00438.hp1 HG00609.hp1 HG00642.hp1 HG02129.hp2 HG02486.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp2 HG02922.hp1 HG03041.hp1 HG03130.hp2 HG03490.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp2 NA18522.hp2 NA18747.hp1 NA18942.hp1 NA18945.hp1 NA18955.hp2 NA19030.hp1 NA19043.hp1 NA19057.hp2 NA19066.hp2 NA20300.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0007 others(3): Show a0001c0001 a0001c0002 a0001c0007 a0001c0009 a0001c0010 a0007c0011	a0001c0001t0005 a0001c0001t0034 a0001c0002t0005 others(8): Show a0001c0001t0005 a0001c0001t0034 a0001c0002t0005 a0001c0002t0009 a0001c0002t0036 a0001c0002t0038 a0001c0007t0021 a0001c0009t0005 a0001c0009t0035 a0001c0010t0021 a0007c0011t0021	a0001c0001t0005g0215 a0001c0001t0034g0063 a0001c0002t0005g0031 others(25): Show a0001c0001t0005g0215 a0001c0001t0034g0063 a0001c0002t0005g0031 a0001c0002t0005g0036 a0001c0002t0005g0120 a0001c0002t0005g0122 a0001c0002t0005g0129 a0001c0002t0005g0138 a0001c0002t0005g0157 a0001c0002t0005g0170 a0001c0002t0005g0258 a0001c0002t0005g0275 a0001c0002t0005g0295 a0001c0002t0005g0299 a0001c0002t0009g0116 a0001c0002t0009g0139 a0001c0002t0009g0156 a0001c0002t0009g0171 a0001c0002t0009g0208 a0001c0002t0009g0209 a0001c0002t0009g0330 a0001c0002t0036g0274 a0001c0002t0038g0060 a0001c0007t0021g0096 a0001c0009t0005g0018 a0001c0009t0035g0029 a0001c0010t0021g0097 a0007c0011t0021g0111	28	354	0.0791	-123	c.212 others(19): Show c.2123+1681_2123+1803del		TRIM67	ENSG00000119283.16	transcript	ENST00000366653.6	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
TTF1_chr9_132370548_132411840	132377307	TGAGTGCA others(116): Show TGAGTGCATGTGGTGTGTGTGTGAATGCATGTGGTGTGAGTGCATGTGGT GTGTGTGAGTGCATGTGGTGTGTGTGAGTGCATGTGGTGTGAGTGCATGT GGTGTGTGTGAGTGCATGCATGTG	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00673.hp1 HG02074.hp2 others(10): Show HG00558.hp2 HG00673.hp1 HG02074.hp2 NA18953.hp1 NA18955.hp1 NA18969.hp1 NA18988.hp2 NA18995.hp1 NA19000.hp1 NA19064.hp2 NA19074.hp1 NA19081.hp2 NA19086.hp1	a0004 a0016 a0004 a0016	a0004c0004 a0016c0029 a0004c0004 a0016c0029	a0004c0004t0002 a0016c0029t0002 a0004c0004t0002 a0016c0029t0002	a0004c0004t0002g0013 a0004c0004t0002g0019 a0004c0004t0002g0096 others(5): Show a0004c0004t0002g0013 a0004c0004t0002g0019 a0004c0004t0002g0096 a0004c0004t0002g0101 a0004c0004t0002g0102 a0004c0004t0002g0103 a0004c0004t0002g0106 a0016c0029t0002g0131	13	400	0.0325	-123	c.246 others(19): Show c.2465-1262_2465-1140del		TTF1	ENSG00000125482.13	transcript	ENST00000334270.3	protein_coding	10/10						chr9	TogoVar
TYMS_chr18_652653_678578	667346	AGATGGTG others(116): Show AGATGGTGATGGTGATGGAGATGGTGATGGTGATGGTGATGGTGATGGAG ATGGTGATGGTGATGGTGATGGTGATGGTGATGGAGATGGTGATGGTGAT GGTGATGGTGATGATGGAGATGGT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA18946.hp1 NA18960.hp2 others(2): Show HG00597.hp1 NA18946.hp1 NA18960.hp2 NA19006.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0252 a0001c0001t0003g0323 a0001c0001t0003g0007 a0001c0001t0003g0252 a0001c0001t0003g0323	5	482	0.0104	-123	c.455 others(17): Show c.455-1708_455-1586del		TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr18	TogoVar
UROC1_chr3_126476166_126522773	126516077	CCCCAGCA others(116): Show CCCCAGCACCCACCACCTATCCTCCCAACTCCCAGCACCCACCACCTACT GTCCCCTGCCCCCCAGCGCCCACCACCTACCCACCCCCTCCTCACCCCAG CACCCACCACCTATCCTCCCAACT	C C	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	380	0.0026	-123	c.126 others(17): Show c.126+1394_126+1516del		UROC1	ENSG00000159650.9	transcript	ENST00000290868.7	protein_coding	1/19						chr3	TogoVar
VGLL4_chr3_11551069_11648915	11605108	CACCCCCC others(116): Show CACCCCCCACCCCCAATCCTCCACAGCTCTGTGAATTCCATCTTCCAAAG CGCCCCACGCCCCCGCCCACCCCCAATCCTCCACAGCTCTGTGAATTCCA TCTTCCAAAGCGCCCCCACGCCCA	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03195.hp2 HG02965.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0004 a0001c0001t0004 a0001c0002t0004	a0001c0001t0004g0382 a0001c0002t0004g0203 a0001c0001t0004g0382 a0001c0002t0004g0203	2	388	0.0052	-123	c.83- others(15): Show c.83-3209_83-3087del		VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	1/4						chr3	TogoVar
VGLL4_chr3_11551069_11648915	11605158	CGCCCCAC others(116): Show CGCCCCACGCCCCCGCCCACCCCCAATCCTCCACAGCTCTGTGAATTCCA TCTTCCAAAGCGCCCCCACGCCCACCCCCCACCCCCAATCCTCCACAGCT CTGTGAATTCCATCTTCCAAAGCG	C C	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0387 a0001c0001t0039g0387	1	388	0.0026	-123	c.83- others(15): Show c.83-3259_83-3137del		VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	1/4						chr3	TogoVar
XIRP2_chr2_166883480_167264753	167214103	AAGGAAGG others(116): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGCAAAGAGAAAGAGAA AGAAGGAAAGAAAGAGAAAGAAGGAAGGAAGGAAGGAAAGAGAGAGAGAA AGAGAGGGAGGGAGGGAGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG04204.hp2 NA21309.hp1 HG04204.hp2 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0012 a0002c0002t0002 a0002c0002t0012	a0002c0002t0002g0023 a0002c0002t0012g0024 a0002c0002t0002g0023 a0002c0002t0012g0024	2	190	0.0105	-123	c.723 others(17): Show c.723+3242_723+3364del		XIRP2	ENSG00000163092.22	transcript	ENST00000409195.6	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr2	TogoVar
ZFAND3_chr6_37814727_38159624	37819221	TAAGTTTG others(116): Show TAAGTTTGCTTCAGATTCTAAAAGTTCTAAGAATACGAAGGCCTCAGCCG CCCGTCGCCGGGCGACAGCCCGAGGCTCTCGTTTTCTCCCACAGCCCCGC ACTCCGCCTTTGAGGCGCGGAACG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	318	0.0031	-123	c.-72 others(9): Show c.-724_-602del		ZFAND3	ENSG00000156639.12	transcript	ENST00000287218.9	protein_coding					505		chr6	TogoVar
ZMYND11_chr10_130455_259637	215184	CTTAAAAT others(116): Show CTTAAAATATTAAAAAGTGATCTTTGCTGTAAAACTACTTCTCCCTTTAC TTACCTACCAGGTTTGGTCTCACAGCCTCATTTCCTTGTCATAGTTAATG CCAGGACAAAAATAATATATGAGT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	342	0.0029	-123	c.276 others(17): Show c.276+5157_276+5279del		ZMYND11	ENSG00000015171.21	transcript	ENST00000381604.9	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr10	TogoVar
ZNF419_chr19_57482750_57501098	57499553	TTCTCCAT others(116): Show TTCTCCATCATCTCCATCTTCTCCATCATCTCCATCTTCTCCATCATCTC CATCTTCATCATCTCCATTTCCATCATCTCCATCTCCATCATCATCTCTA TCTCCATCATCTCCATCTCCATCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0007 a0001c0003t0002g0007	1	418	0.0024	-123	c.54 others(11): Show c.5464_*5586del		ZNF419	ENSG00000105136.22	transcript	ENST00000221735.12	protein_coding					3456		chr19	TogoVar
ZNF516_chr18_76352682_76500242	76458718	CGTGTGCA others(116): Show CGTGTGCATGCCTGTAGGCAATGCCAGGCCTCACCGTCGTGCGTGTGTGT GCCTCGTGTGCGTGCCTCACCGTCGTGCGTGTGCGTGCCTCACCGTCGTG CGTGTGCGTGCCTCACCGTTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0087 a0001c0004t0087	a0001c0004t0087g0299 a0001c0004t0087g0299	1	346	0.0029	-123	c.-15 others(19): Show c.-158+4187_-158+4309del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	2/6						chr18	TogoVar
ZNF773_chr19_57494938_57513229	57499553	TTCTCCAT others(116): Show TTCTCCATCATCTCCATCTTCTCCATCATCTCCATCTTCTCCATCATCTC CATCTTCATCATCTCCATTTCCATCATCTCCATCTCCATCATCATCTCTA TCTCCATCATCTCCATCTCCATCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	416	0.0024	-123	c.-52 others(9): Show c.-527_-405del		ZNF773	ENSG00000152439.13	transcript	ENST00000282292.9	protein_coding					384		chr19	TogoVar
ABCG1_chr21_42214140_42302244	42283739	ACCCCCCA others(115): Show ACCCCCCACCTCTGTCCTGCCTGGACAGTTGTGAAGTACCCCCCAACCCA GATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCAAAGTC CCCCCGCCCAGATGAGTGGGGAC	A A	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	354	0.0028	-122	c.735 others(15): Show c.735-804_735-683del		ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14					INFO_REALIGN_3_PRIME	chr21	TogoVar
ABCG1_chr21_42214140_42302244	42284018	TCCCCCCC others(115): Show TCCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGA CAGTTGCAAAGTCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGT CCCGCCTGGACAGTTGCGAAGTC	T T	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0306 a0001c0001t0028g0306	1	354	0.0028	-122	c.735 others(15): Show c.735-535_735-414del		ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14					INFO_REALIGN_3_PRIME	chr21	TogoVar
ADARB2_chr10_1172313_1742525	1397065	CTCTCCCC others(115): Show CTCTCCCCTCCCGAGCGCAGGCTTCCTGGGTCACCATCAGCCTCTCCCCT CCCGAGTGGAGGCTTCCTGGGTCACCGTCCGTCTCTCCCCTCCCGAGCGC AGGCTTCCTGGGTCACCATCAGT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA20805.hp1 HG02055.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0010 a0002c0002t0044 a0001c0001t0010 a0002c0002t0044	a0001c0001t0010g0013 a0002c0002t0044g0049 a0001c0001t0010g0013 a0002c0002t0044g0049	2	106	0.0189	-122	c.101 others(19): Show c.101-18027_101-17906del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1541581	GCCGCCCA others(115): Show GCCGCCCAGACCCCACTCAGACGCAGTTCAGACCCTGGATCCGTCCAGAC CCCACTCAGACGCAGTTCGGACCCTGGATCACAGCCGCCCAGACCCCACT CAGACGCAGTTCAGACCCTGGAT	G G	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	106	0.0094	-122	c.101 others(21): Show c.101-162543_101-162422del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1541604	CAGTTCAG others(115): Show CAGTTCAGACCCTGGATCCGTCCAGACCCCACTCAGACGCAGTTCGGACC CTGGATCACAGCCGCCCAGACCCCACTCAGACGCAGTTCAGACCCTGGAT CCGTCCAGACCCCACTCAGACGT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02257.hp2 HG02886.hp1 others(3): Show HG01081.hp1 HG02257.hp2 HG02886.hp1 HG03540.hp2 NA18522.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0002 others(1): Show a0001c0001 a0001c0007 a0002c0002 a0002c0015	a0001c0001t0029 a0001c0001t0049 a0001c0001t0052 others(3): Show a0001c0001t0029 a0001c0001t0049 a0001c0001t0052 a0001c0007t0066 a0002c0002t0005 a0002c0015t0008	a0001c0001t0029g0031 a0001c0001t0049g0040 a0001c0001t0052g0062 others(3): Show a0001c0001t0029g0031 a0001c0001t0049g0040 a0001c0001t0052g0062 a0001c0007t0066g0105 a0002c0002t0005g0033 a0002c0015t0008g0060	6	106	0.0566	-122	c.101 others(21): Show c.101-162566_101-162445del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9						chr10	TogoVar
ADGRD1_chr12_130948907_131146469	131046458	TCCTCCCT others(115): Show TCCTCCCTGGTCAGCGCTCCCTCCCTGGTCAGTGTCCTCCCTGGTCAGTG CCCCCTCCCTGGTCAATGCTCCCTCCCTGATCAGTGCCCCCTCCCTGGCC AGTGTCCTCCCTGGTGAGTGCTC	T T	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0007 a0001c0013t0007	a0001c0013t0007g0154 a0001c0013t0007g0154	1	242	0.0041	-122	c.147 others(21): Show c.1474-30329_1474-30208del		ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	13/24					INFO_REALIGN_3_PRIME	chr12	TogoVar

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