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
RXRA_chr9_134321455_134445585	134431695	AGGGCCAG others(130): Show AGGGCCAGGCAGGCCTGGCAGGGGCGGCACCTGGGCCTGGGTTCCAGCCC ACTCCCTCTCGGGGTGTCTGGGAGTCCTTGCCTTGGCTTGGCCCATCTCA GCGGCCCTCGGGCCACGCCGGGCTCTCCAGAGGCCTTG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02965.hp2 HG03195.hp2 others(1): Show HG02717.hp1 HG02965.hp2 HG03195.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0025 a0001c0001t0026 others(1): Show a0001c0001t0008 a0001c0001t0025 a0001c0001t0026 a0001c0001t0063	a0001c0001t0008g0125 a0001c0001t0025g0159 a0001c0001t0026g0127 others(1): Show a0001c0001t0008g0125 a0001c0001t0025g0159 a0001c0001t0026g0127 a0001c0001t0063g0120	4	232	0.0172	-137	c.104 others(16): Show c.1044-207_1044-71del		RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding	7/9					INFO_REALIGN_3_PRIME	chr9	TogoVar
SERPINF2_chr17_1737871_1760265	1741724	GACAGTGA others(130): Show GACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCAGGACAG TGAGGGTGGGAAGTGGCCCGATGCAGGGAGTGAGGCGCAGGACAGTGAGG GTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00621.hp1 others(37): Show HG00423.hp2 HG00544.hp1 HG00621.hp1 HG01167.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01981.hp2 HG02040.hp1 HG02135.hp2 HG02145.hp2 HG02559.hp2 HG02615.hp2 HG02717.hp2 HG02976.hp2 HG03453.hp2 HG03492.hp1 HG03579.hp1 HG03688.hp1 HG03704.hp2 HG04115.hp2 NA18612.hp2 NA18949.hp1 NA18950.hp2 NA18960.hp1 NA18961.hp2 NA18969.hp1 NA18971.hp1 NA18981.hp2 NA18983.hp2 NA18985.hp2 NA18993.hp1 NA18994.hp2 NA19000.hp2 NA19063.hp2 NA19074.hp2 NA19080.hp1 NA19083.hp2 NA19087.hp2 NA19088.hp1	a0001 a0003 a0011 a0001 a0003 a0011	a0001c0001 a0003c0003 a0011c0016 a0001c0001 a0003c0003 a0011c0016	a0001c0001t0001 a0001c0001t0012 a0001c0001t0016 others(4): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0016 a0003c0003t0001 a0003c0003t0004 a0003c0003t0010 a0011c0016t0004	a0001c0001t0001g0162 a0001c0001t0012g0163 a0001c0001t0016g0145 others(27): Show a0001c0001t0001g0162 a0001c0001t0012g0163 a0001c0001t0016g0145 a0003c0003t0001g0003 a0003c0003t0001g0007 a0003c0003t0001g0013 a0003c0003t0001g0015 a0003c0003t0001g0022 a0003c0003t0001g0027 a0003c0003t0001g0043 a0003c0003t0001g0046 a0003c0003t0001g0048 a0003c0003t0001g0049 a0003c0003t0001g0102 a0003c0003t0001g0103 a0003c0003t0001g0104 a0003c0003t0001g0117 a0003c0003t0001g0118 a0003c0003t0001g0125 a0003c0003t0004g0003 a0003c0003t0004g0007 a0003c0003t0004g0015 a0003c0003t0004g0113 a0003c0003t0004g0115 a0003c0003t0004g0119 a0003c0003t0004g0121 a0003c0003t0004g0151 a0003c0003t0004g0156 a0003c0003t0010g0126 a0011c0016t0004g0046	40	445	0.0899	-137	c.-11 others(11): Show c.-1188_-1052del		SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding					1146		chr17	TogoVar
SIDT1_chr3_113527555_113634575	113556876	GTGGCAGG others(130): Show GTGGCAGGATCTCGCCTCACCGCAATCTCCACCTCCTGGGTTCAAGCCAT TCTCCTGTCTCAGCCTTCCGAGTAGCTGGGTCTACAGGTGCCCACCACCA CGCCCAGCTAATTTTTGTATTTTTAGTAGAGGCGGGTT	G G	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0132 a0001c0019t0001g0132	1	318	0.0031	-137	c.223 others(17): Show c.223-9542_223-9406del		SIDT1	ENSG00000072858.11	transcript	ENST00000264852.9	protein_coding	1/24					INFO_REALIGN_3_PRIME	chr3	TogoVar
SLC12A7_chr5_1045384_1117063	1073078	GAGCCCCC others(130): Show GAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCC AGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCC CCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGC	G G	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0096 a0001c0001t0018g0096	1	118	0.0085	-137	c.224 others(17): Show c.2241+418_2241+554del		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23						chr5	TogoVar
SLC39A14_chr8_22362278_22427736	22396389	GAGAGAGA others(130): Show GAGAGAGAGAGAGAGAGAGAGAGAGGGGGGGGGGAGAGAGAGAGAGAGAG AGAGAGAGAGGGGGGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0012 a0002c0010t0012	a0002c0010t0012g0288 a0002c0010t0012g0288	1	324	0.0031	-137	c.-15 others(17): Show c.-15-8306_-15-8170del		SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8						chr8	TogoVar
SLC39A14_chr8_22362278_22427736	22396395	GAGAGAGA others(130): Show GAGAGAGAGAGAGAGAGAGGGGGGGGGGAGAGAGAGAGAGAGAGAGAGAG AGAGGGGGGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0232 a0001c0007t0006g0232	1	324	0.0031	-137	c.-15 others(17): Show c.-15-8300_-15-8164del		SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8						chr8	TogoVar
STAC_chr3_36375504_36553007	36398422	AGGAAGGA others(130): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAGGGAAGGAAGAAAGGAAGGAGGGAAGGAAGAGAAAAAGAAAGAG AGAGAAAGAAAGAAAGAGAGGTAAAGAGAAAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01516.hp2 HG01106.hp1 HG01516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0011 a0001c0002t0003 a0001c0002t0011	a0001c0002t0003g0027 a0001c0002t0011g0031 a0001c0002t0003g0027 a0001c0002t0011g0031	2	316	0.0063	-137	c.111 others(19): Show c.111+17710_111+17846del		STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr3	TogoVar
TCF3_chr19_1604292_1657615	1628700	CAGGGGAT others(130): Show CAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGG GAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGA ACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCA	C C	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG04199.hp2 HG03654.hp1 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0271 a0001c0002t0002g0270 a0001c0002t0001g0271 a0001c0002t0002g0270	2	352	0.0057	-137	c.299 others(17): Show c.299-1411_299-1275del		TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18						chr19	TogoVar
TENM2_chr5_166974029_168269157	167974045	GGAAGGGA others(130): Show GGAAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGGAAG GAAGGAAGGGAGGAAAGGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGG AAGGAAGGAAGGGAGGAAAGGAGGGAGGGAGGGAGGAA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01192.hp1 HG02055.hp2 others(2): Show HG01081.hp2 HG01192.hp1 HG02055.hp2 HG03195.hp1 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0010 others(2): Show a0001c0003 a0001c0004 a0001c0010 a0001c0028 a0001c0037	a0001c0003t0001 a0001c0004t0007 a0001c0010t0001 others(2): Show a0001c0003t0001 a0001c0004t0007 a0001c0010t0001 a0001c0028t0011 a0001c0037t0030	a0001c0003t0001g0040 a0001c0004t0007g0054 a0001c0010t0001g0043 others(2): Show a0001c0003t0001g0040 a0001c0004t0007g0054 a0001c0010t0001g0043 a0001c0028t0011g0042 a0001c0037t0030g0011	5	54	0.0926	-137	c.948 others(19): Show c.948-18897_948-18761del		TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	6/30					INFO_REALIGN_3_PRIME	chr5	TogoVar
THSD7B_chr2_136760545_137682718	136890367	CTTCTTCT others(130): Show CTTCTTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTT CTTCTCCTTTCTTCTCCTTTCTTCTCCTTTCTTCTCCT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02886.hp1 NA20300.hp1 HG02717.hp1 HG02886.hp1 NA20300.hp1	a0001 a0005 a0001 a0005	a0001c0053 a0005c0054 a0005c0057 a0001c0053 a0005c0054 a0005c0057	a0001c0053t0005 a0005c0054t0002 a0005c0057t0013 a0001c0053t0005 a0005c0054t0002 a0005c0057t0013	a0001c0053t0005g0084 a0005c0054t0002g0031 a0005c0057t0013g0013 a0001c0053t0005g0084 a0005c0054t0002g0031 a0005c0057t0013g0013	3	98	0.0306	-137	c.139 others(17): Show c.139+8060_139+8196del		THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	2/27					INFO_REALIGN_3_PRIME	chr2	TogoVar
TMEM132D_chr12_129066726_129909025	129190289	AGGCCTGC others(130): Show AGGCCTGCAGATGGAGGGAGGGGTCTCGGCCTGCAGATGGAGGGAGGGGT CTTGGGGGCCTGCAGATGGAGGGAGGGAGTCTCAGGCCTGCAGATGGAGG GAGGGAGTCTCAGGCCTGCAGATGGAGGGAGGGGTCTC	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03834.hp1 homoSapiens_chm13v2.hp1 HG02818.hp1 HG03834.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0005 a0001c0001t0001 a0001c0010t0005	a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0010t0005g0064 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0010t0005g0064	3	94	0.0319	-137	c.144 others(21): Show c.1443+19094_1443+19230del		TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	5/8						chr12	TogoVar
TRAPPC12_chr2_3374694_3484565	3437239	TGCCCCAT others(130): Show TGCCCCATCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCC CCATCACCCCTGGATTAATACCCCATCACCCCTGAATTAATCCCCCCACC ACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp1 others(19): Show HG00099.hp1 HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00639.hp2 HG00741.hp2 HG01123.hp2 HG01516.hp1 HG01981.hp2 HG02055.hp2 HG02071.hp2 HG02129.hp2 HG02602.hp1 HG02965.hp2 HG03654.hp1 HG03688.hp2 HG03927.hp1 NA18941.hp1 NA18957.hp1 NA18977.hp2 NA18989.hp2 NA18994.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0004 a0001c0005 a0001c0015 others(4): Show a0001c0004 a0001c0005 a0001c0015 a0001c0020 a0002c0009 a0003c0019 a0009c0038	a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 others(8): Show a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0005t0001 a0001c0005t0003 a0001c0015t0003 a0001c0020t0003 a0002c0009t0002 a0003c0019t0002 a0003c0019t0003 a0009c0038t0003	a0001c0004t0001g0238 a0001c0004t0002g0086 a0001c0004t0002g0092 others(18): Show a0001c0004t0001g0238 a0001c0004t0002g0086 a0001c0004t0002g0092 a0001c0004t0002g0096 a0001c0004t0003g0093 a0001c0004t0003g0108 a0001c0005t0001g0208 a0001c0005t0001g0256 a0001c0005t0001g0311 a0001c0005t0003g0002 a0001c0005t0003g0094 a0001c0005t0003g0095 a0001c0005t0003g0097 a0001c0005t0003g0110 a0001c0005t0003g0197 a0001c0015t0003g0088 a0001c0020t0003g0112 a0002c0009t0002g0200 a0003c0019t0002g0111 a0003c0019t0003g0149 a0009c0038t0003g0195	22	344	0.0640	-137	c.141 others(19): Show c.1418-6539_1418-6403del		TRAPPC12	ENSG00000171853.16	transcript	ENST00000324266.10	protein_coding	5/11						chr2	TogoVar
TTC24_chr1_156574723_156592719	156590049	GGTTTCAC others(130): Show GGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACATCAGGTGAT CCACCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCAGTG CATCCAGCCCTAATTTTTGTATTTTTAGTAGAGGTGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 NA18940.hp2 HG02145.hp2 NA18940.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0002c0002t0001 a0001c0003t0001 a0002c0002t0001	a0001c0003t0001g0013 a0002c0002t0001g0002 a0001c0003t0001g0013 a0002c0002t0001g0002	2	442	0.0045	-137	c.35 others(11): Show c.3500_*3636del		TTC24	ENSG00000187862.13	transcript	ENST00000368236.8	protein_coding					2331		chr1	TogoVar
TYMS_chr18_652653_678578	667161	AGATGGTG others(130): Show AGATGGTGATGGTGATGGTGATGGTGATGGAGATGGTGATGGTGATGGTG ATGGAGATGGTGATGGTGATGGAGATGGAGATGGTGATGGTGATGGTGAT GGAGATGGTGATGGTGATGGGATGGTGATGGAGATGGT	A A	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02895.hp2 HG02897.hp1 HG02056.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0005 a0001c0001t0008 a0001c0002t0005	a0001c0001t0008g0091 a0001c0001t0008g0092 a0001c0002t0005g0105 a0001c0001t0008g0091 a0001c0001t0008g0092 a0001c0002t0005g0105	3	482	0.0062	-137	c.455 others(17): Show c.455-1893_455-1757del		TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr18	TogoVar
VCX3B_chrX_8459830_8471510	8466048	CAGGAGAG others(130): Show CAGGAGAGCGAGGTGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGA ACCACTGAGTCAGGAGAGCGAGGTGGAGGAACCACTGAGTCAGGAGAGCG AGGTGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAG	C C	frameshift_variant frameshift_variant	HIGH	HG01361.hp1 HG01361.hp1	a0074 a0074	a0074c0091 a0074c0091	a0074c0091t0010 a0074c0091t0010	a0074c0091t0010g0012 a0074c0091t0010g0012	1	271	0.0037	-137	c.407 others(7): Show c.407_543del	p.Gln others(5): Show p.Gln136fs	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding	3/3	714/1175	407/741	136/246			chrX	TogoVar
WDR45B_chr17_82609562_82653444	82645006	CAAAAATT others(130): Show CAAAAATTAGCCAGGCATGGTGGCATGTGCCTGTAATCCCAGCACTTTGG GAGGCCAAGGCAGGTGGATCACCTGAGATCAGGAGTTCGAGACCAGCCTG ACCAACACGATGAAACCCCGTCTCTACTAGAAATACCA	C C	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0089 a0001c0001t0004g0089	1	382	0.0026	-137	c.68- others(14): Show c.68-1120_68-984del		WDR45B	ENSG00000141580.16	transcript	ENST00000392325.9	protein_coding	1/9						chr17	TogoVar
WDR81_chr17_1719704_1743585	1741724	GACAGTGA others(130): Show GACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCAGGACAG TGAGGGTGGGAAGTGGCCCGATGCAGGGAGTGAGGCGCAGGACAGTGAGG GTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00544.hp1 HG00558.hp2 others(48): Show HG00140.hp1 HG00544.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp2 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01167.hp1 HG01167.hp2 HG01346.hp1 HG01516.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG02004.hp2 HG02040.hp1 HG02135.hp2 HG02148.hp1 HG02273.hp1 HG02630.hp2 HG02647.hp1 HG02818.hp2 HG02976.hp2 HG03139.hp2 HG03492.hp1 HG03579.hp2 HG03704.hp2 HG04115.hp2 HG06807.hp1 NA18612.hp2 NA18946.hp2 NA18949.hp2 NA18950.hp1 NA18960.hp2 NA18961.hp2 NA18969.hp2 NA18971.hp2 NA18980.hp2 NA18983.hp1 NA18985.hp2 NA18987.hp2 NA19000.hp1 NA19005.hp2 NA19063.hp2 NA19074.hp1 NA19083.hp1 NA19087.hp1 NA19240.hp2 NA20752.hp2 NA20805.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0022 a0023	a0001c0003 a0001c0007 a0001c0017 others(9): Show a0001c0003 a0001c0007 a0001c0017 a0001c0026 a0001c0059 a0001c0062 a0001c0063 a0002c0050 a0004c0043 a0004c0061 a0022c0058 a0023c0057	a0001c0003t0001 a0001c0007t0001 a0001c0017t0001 others(9): Show a0001c0003t0001 a0001c0007t0001 a0001c0017t0001 a0001c0026t0001 a0001c0059t0008 a0001c0062t0001 a0001c0063t0001 a0002c0050t0001 a0004c0043t0001 a0004c0061t0001 a0022c0058t0001 a0023c0057t0001	a0001c0003t0001g0003 a0001c0003t0001g0029 a0001c0003t0001g0034 others(16): Show a0001c0003t0001g0003 a0001c0003t0001g0029 a0001c0003t0001g0034 a0001c0003t0001g0073 a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0007t0001g0005 a0001c0007t0001g0055 a0001c0007t0001g0056 a0001c0017t0001g0003 a0001c0026t0001g0028 a0001c0059t0008g0095 a0001c0062t0001g0079 a0001c0063t0001g0003 a0002c0050t0001g0049 a0004c0043t0001g0096 a0004c0061t0001g0003 a0022c0058t0001g0093 a0023c0057t0001g0003	51	431	0.1183	-137	c.40 others(11): Show c.4040_*4176del		WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding					3140		chr17	TogoVar
WNK1_chr12_747579_916452	783554	CGGAGGCT others(130): Show CGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGAGACCAGGC TAGGCAACAAACCAAGATGCTGTCTCCACCAAAAAAAAAAAAAAATTATC CAGGCACAGCGGCATGTGCCTGTAGTCCCAGCTACCTG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02809.hp1 HG03041.hp2 others(5): Show HG00280.hp1 HG02809.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 NA19091.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0018 a0002c0003 others(1): Show a0001c0001 a0001c0018 a0002c0003 a0007c0010	a0001c0001t0004 a0001c0018t0006 a0002c0003t0001 others(2): Show a0001c0001t0004 a0001c0018t0006 a0002c0003t0001 a0007c0010t0010 a0007c0010t0030	a0001c0001t0004g0142 a0001c0018t0006g0015 a0002c0003t0001g0180 others(5): Show a0001c0001t0004g0142 a0001c0018t0006g0015 a0002c0003t0001g0180 a0007c0010t0010g0134 a0007c0010t0010g0136 a0007c0010t0010g0137 a0007c0010t0010g0148 a0007c0010t0030g0135	8	284	0.0282	-137	c.759 others(19): Show c.759+29325_759+29461del		WNK1	ENSG00000060237.19	transcript	ENST00000315939.11	protein_coding	1/27					INFO_REALIGN_3_PRIME	chr12	TogoVar
WNK1_chr12_747579_916452	783771	AAAAAAAA others(130): Show AAAAAAAAAAAAAAAATTATCCAGGCACAGCGGCATGTGCCTGTAGTCCC AGCTACCTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGA GACCAGGCTAGGCAACAAACCAAGATGCTGTCTCCACC	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01106.hp2 HG01261.hp2 others(9): Show HG00423.hp2 HG01106.hp2 HG01261.hp2 HG02074.hp2 HG02132.hp1 HG02257.hp1 HG02698.hp1 HG02738.hp2 HG04228.hp1 NA18950.hp2 NA18993.hp2 NA19068.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0009	a0001c0001 a0002c0002 a0002c0003 others(3): Show a0001c0001 a0002c0002 a0002c0003 a0004c0004 a0005c0006 a0009c0014	a0001c0001t0002 a0001c0001t0007 a0001c0001t0016 others(5): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0016 a0002c0002t0001 a0002c0003t0001 a0004c0004t0003 a0005c0006t0009 a0009c0014t0002	a0001c0001t0002g0031 a0001c0001t0007g0066 a0001c0001t0016g0062 others(9): Show a0001c0001t0002g0031 a0001c0001t0007g0066 a0001c0001t0016g0062 a0001c0001t0016g0063 a0002c0002t0001g0107 a0002c0003t0001g0181 a0002c0003t0001g0183 a0002c0003t0001g0186 a0002c0003t0001g0247 a0004c0004t0003g0074 a0005c0006t0009g0021 a0009c0014t0002g0054	12	284	0.0423	-137	c.759 others(19): Show c.759+29463_759+29599del		WNK1	ENSG00000060237.19	transcript	ENST00000315939.11	protein_coding	1/27					INFO_REALIGN_3_PRIME	chr12	TogoVar
ZFPM1_chr16_88448280_88542031	88461015	TGGGGCGG others(130): Show TGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGAGGCCCTGGTGAGGA CCCAGGGGCAGAAGGTCTGGTGAGGACCAAGGGGCAGGAGGCCCTGGTGA GGACCCAGGGATGGGGCGGGAGACCTGGTGAGGACCGA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02965.hp2 HG01109.hp2 HG02965.hp2	a0001 a0005 a0001 a0005	a0001c0084 a0005c0034 a0001c0084 a0005c0034	a0001c0084t0001 a0005c0034t0025 a0001c0084t0001 a0005c0034t0025	a0001c0084t0001g0154 a0005c0034t0025g0153 a0001c0084t0001g0154 a0005c0034t0025g0153	2	318	0.0063	-137	c.40+ others(15): Show c.40+7348_40+7484del		ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr16	TogoVar
ZNF723_chr19_22827291_22863667	22862490	TATGTAAT others(130): Show TATGTAATATAATATATATATTATATATGTAATATAATATATAATATATG TAATATAATATATATTATATATGTAATATAATATATATTATATATGTAAT ATAATATATATTATATATGTAATATAATATATTATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00733.hp1 HG01074.hp2 others(15): Show HG00639.hp2 HG00733.hp1 HG01074.hp2 HG01981.hp2 NA18949.hp1 NA18951.hp2 NA18952.hp2 NA18957.hp1 NA18962.hp1 NA18973.hp2 NA18990.hp1 NA19054.hp2 NA19062.hp2 NA19064.hp2 NA19074.hp2 NA19080.hp1 NA19081.hp1 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0008 a0002c0002t0002g0034 a0002c0002t0002g0035 others(11): Show a0002c0002t0002g0008 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0037 a0002c0002t0002g0220 a0002c0002t0002g0222 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0235 a0002c0002t0002g0239 a0002c0002t0002g0240	18	364	0.0495	-137	c.40 others(11): Show c.4058_*4194del		ZNF723	ENSG00000268696.3	transcript	ENST00000600766.3	protein_coding					3824		chr19	TogoVar
ACAP2_chr3_195269745_195448020	195272798	AGTAGGCA others(129): Show AGTAGGCAGTGTGGTGGCGGACACCTGCAATTCCAGCTACTCGAGAGGCT GAGGCAAGAGAATCGCTTGAACCTAGGAGGCAGAGGATGCAGTGAGCCGA GATCATAACACTGCACTCCAGCCTGGGCGACAAGAGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG03209.hp2 HG03516.hp2 HG02622.hp2 HG03209.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0034 a0001c0001t0006 a0001c0001t0034	a0001c0001t0006g0097 a0001c0001t0006g0098 a0001c0001t0034g0020 a0001c0001t0006g0097 a0001c0001t0006g0098 a0001c0001t0034g0020	3	324	0.0093	-136	c.63 others(11): Show c.6394_*6529del		ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding					1946		chr3	TogoVar
ACSBG2_chr19_6130667_6198091	6149759	TGGCCTCC others(129): Show TGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCTGGCCT CAAGAGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCACACCTGGCCTCAAGAGATCCACCTACCTC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01433.hp1 HG01891.hp1 others(19): Show HG00741.hp2 HG01433.hp1 HG01891.hp1 HG02055.hp2 HG02109.hp1 HG02258.hp1 HG02559.hp1 HG02630.hp2 HG02897.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03486.hp1 HG03516.hp2 NA18522.hp1 NA18973.hp2 NA18975.hp2 NA18983.hp2 NA19066.hp2 NA19077.hp2 NA19085.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0009 a0013	a0001c0001 a0001c0020 a0003c0004 others(4): Show a0001c0001 a0001c0020 a0003c0004 a0003c0005 a0004c0019 a0009c0010 a0013c0016	a0001c0001t0001 a0001c0020t0001 a0003c0004t0002 others(4): Show a0001c0001t0001 a0001c0020t0001 a0003c0004t0002 a0003c0005t0001 a0004c0019t0002 a0009c0010t0002 a0013c0016t0001	a0001c0001t0001g0053 a0001c0020t0001g0051 a0003c0004t0002g0006 others(18): Show a0001c0001t0001g0053 a0001c0020t0001g0051 a0003c0004t0002g0006 a0003c0004t0002g0007 a0003c0004t0002g0008 a0003c0004t0002g0009 a0003c0004t0002g0010 a0003c0004t0002g0011 a0003c0004t0002g0012 a0003c0004t0002g0013 a0003c0004t0002g0131 a0003c0005t0001g0001 a0003c0005t0001g0133 a0003c0005t0001g0241 a0003c0005t0001g0242 a0003c0005t0001g0243 a0003c0005t0001g0244 a0004c0019t0002g0050 a0009c0010t0002g0052 a0009c0010t0002g0054 a0013c0016t0001g0014	22	262	0.0840	-136	c.298 others(17): Show c.298-1920_298-1785del		ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr19	TogoVar
ADAMTS17_chr15_99966437_100346975	100225465	GCAGTCCT others(129): Show GCAGTCCTTACAGCAGTCACGGTCTCTGTGCCATTCAGTCCTTACAGCAG TCACGGCCTCTGTGCCATGCAGTCCTTATAGCAGTCACGGTCTCTGTGCC ATTCAGTCCTCACAGCAGTCACGGTCTCTGTGCCATT	G G	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0190 a0004c0003t0001g0190	1	228	0.0044	-136	c.107 others(21): Show c.1076-26178_1076-26043del		ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	7/21						chr15	TogoVar
ADAP1_chr7_892900_959680	909124	TCCTCCCG others(129): Show TCCTCCCGACAGCAGGCGCCAGCGGGAACCCCGGTCCTCCCGACAGCAGG CGCCAGCGGGAACCCCGGACCTCCCGACAGCAGGCGCCAGCGGGAACCCC GGTCCTCCCGACAGCAGGCGCCAGCGGGAACCCCGGA	T T	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp2 HG03579.hp1 others(1): Show HG01993.hp1 HG01993.hp2 HG03579.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0004 a0001c0001t0001 a0001c0001t0002 a0001c0003t0004	a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0002g0012 others(1): Show a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0002g0012 a0001c0003t0004g0011	4	14	0.2857	-136	c.389 others(17): Show c.389-4088_389-3953del		ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	4/10						chr7	TogoVar
ADARB2_chr10_1172313_1742525	1459978	AGCAAACC others(129): Show AGCAAACCTGCCTGTGACCTGAGTTTACCTGCGTAACAAACCTGCCTGTG ACCTGAGTTTACCTGTGTAGCAAACCTGCCTGTGACCTGAGTTTACCTGC GTAACGAACCTGCCTGTGACCTGAGTTTACCTGCGTT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0072 a0001c0001t0036g0072	1	106	0.0094	-136	c.101 others(19): Show c.101-80954_101-80819del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1460763	AAACCTGC others(129): Show AAACCTGCCTGTGACCTGAGTTTACCTGTGTAGCAAACCTGTCTGTGACC TGAGTTTACCTGTGTAGCAAACCTGCCTGTGACCTGAGTTTACCTGTGTA ACGAACCTGCCTGTGACCTGAGTTTACCTGCGTTACG	A A	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0024 a0001c0001t0012g0024	1	106	0.0094	-136	c.101 others(19): Show c.101-81739_101-81604del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9						chr10	TogoVar
AHRR_chr5_316714_443285	415342	CGGGAGGC others(129): Show CGGGAGGCCTAGGGGCCGAGTCTCCCTGGTCGGGTGGGAGGCCTAGGGGC CGAGTCTGCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCG GGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02723.hp1 HG02895.hp1 others(5): Show HG01243.hp1 HG02723.hp1 HG02895.hp1 HG03516.hp1 HG03927.hp1 HG06807.hp1 NA18522.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0018 a0001c0001t0024 a0001c0001t0048 a0001c0001t0058 a0001c0009t0036	a0001c0001t0001g0018 a0001c0001t0002g0027 a0001c0001t0013g0148 others(5): Show a0001c0001t0001g0018 a0001c0001t0002g0027 a0001c0001t0013g0148 a0001c0001t0018g0106 a0001c0001t0024g0031 a0001c0001t0048g0143 a0001c0001t0058g0133 a0001c0009t0036g0033	8	268	0.0299	-136	c.441 others(17): Show c.441+2008_441+2143del		AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
AK8_chr9_132720578_132883284	132812887	CAGATCAC others(129): Show CAGATCACCTCATTCTGTGGCCACCGCAGACACCCAGGACCAGACCTGCT CACTGCCCTGAGCCTACACAGATCACCTCATTCTGTGGCCACCGCAGACA CCCAGGACCAGACCCGCTCACTGCCCTGCACCTACAG	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	266	0.0038	-136	c.979 others(17): Show c.979+1615_979+1750del		AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	10/12						chr9	TogoVar
AK8_chr9_132720578_132883284	132813023	GAGATCAC others(129): Show GAGATCACCTCATTCTGTGGCCACCGCAGACACCCAGGACCAGACCCGCT CACTGCCCTGAGCCTACACAGATCACCTCATTCTGTGGCCACCGCAGACA CCCAGGACCAGACCTGCTCACTGCCCTGAGCCTACAC	G G	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0005 a0008c0008t0001g0005	1	266	0.0038	-136	c.979 others(17): Show c.979+1479_979+1614del		AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	10/12						chr9	TogoVar
ALDH1L2_chr12_105014790_105089458	105036057	TATATATA others(129): Show TATATATATACGTATATTTATATATGTGTATATATTATATATACGTATAT TTATATATGTGTATATATATTATATATATACGTATATTTATATATGTGTA TATAATATATACACGTATATTTATATATGTGTATATA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp2 HG02040.hp1 others(23): Show HG00408.hp2 HG00544.hp2 HG02040.hp1 NA18940.hp1 NA18942.hp2 NA18947.hp1 NA18951.hp2 NA18952.hp2 NA18962.hp1 NA18970.hp1 NA18972.hp2 NA18977.hp2 NA18999.hp1 NA19000.hp1 NA19005.hp1 NA19006.hp1 NA19012.hp2 NA19058.hp1 NA19060.hp2 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19078.hp2 NA19079.hp1 NA19083.hp1 NA19087.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0006 a0001c0011 others(1): Show a0001c0001 a0001c0006 a0001c0011 a0007c0014	a0001c0001t0005 a0001c0006t0005 a0001c0011t0005 others(1): Show a0001c0001t0005 a0001c0006t0005 a0001c0011t0005 a0007c0014t0005	a0001c0001t0005g0108 a0001c0001t0005g0153 a0001c0001t0005g0168 others(23): Show a0001c0001t0005g0108 a0001c0001t0005g0153 a0001c0001t0005g0168 a0001c0001t0005g0225 a0001c0001t0005g0244 a0001c0001t0005g0246 a0001c0001t0005g0247 a0001c0001t0005g0248 a0001c0001t0005g0249 a0001c0001t0005g0253 a0001c0001t0005g0317 a0001c0001t0005g0318 a0001c0001t0005g0320 a0001c0001t0005g0321 a0001c0001t0005g0323 a0001c0001t0005g0324 a0001c0001t0005g0325 a0001c0001t0005g0327 a0001c0001t0005g0329 a0001c0001t0005g0330 a0001c0001t0005g0331 a0001c0006t0005g0134 a0001c0006t0005g0135 a0001c0011t0005g0284 a0001c0011t0005g0285 a0007c0014t0005g0245	26	386	0.0674	-136	c.214 others(19): Show c.2146-1795_2146-1660del		ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	18/22						chr12	TogoVar
ALOXE3_chr17_8090900_8123514	8107865	GAAAGAAA others(129): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAA GGAGAGAGAGAGAGAGAGAAAGAAAGAAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0180 a0001c0002t0002g0180	1	422	0.0024	-136	c.168 others(17): Show c.1684+467_1684+602del		ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15						chr17	TogoVar
ANGPT2_chr8_6494632_6568245	6505333	AGAAAGAA others(129): Show AGAAAGAATATATATATTCTTTCTATATGTATATAGAATATATATATTCT TTCTATATGTATATAGAATATATATATTCTTTATATACATAAAGAATATA TATATTCTTTATATACATATAGAATATATATATTCTT	A A	intron_variant intron_variant	MODIFIER	HG03654.hp2 NA19084.hp1 HG03654.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0002 a0001c0008t0002 a0001c0001t0002 a0001c0008t0002	a0001c0001t0002g0152 a0001c0008t0002g0100 a0001c0001t0002g0152 a0001c0008t0002g0100	2	336	0.0060	-136	c.132 others(19): Show c.1328-2208_1328-2073del		ANGPT2	ENSG00000091879.14	transcript	ENST00000629816.3	protein_coding	8/8						chr8	TogoVar
ANO3_chr11_26327130_26668289	26529291	ATATTATA others(129): Show ATATTATATAATATATATTATATAATATATAATAGTATATAATATATAAT AATATATTATATAATAATATATTATATAATAATTATATATTATATATTAT TATATATTATATAATAATATATAATAATATATTATAT	A A	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0182 a0001c0002t0002g0182	1	190	0.0053	-136	c.738 others(17): Show c.738-1900_738-1765del		ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	7/26					INFO_REALIGN_3_PRIME	chr11	TogoVar
ARHGEF18_chr19_7343937_7477478	7367763	ATATATAT others(129): Show ATATATATATACACATATATATATTTTATATATATATACACATATATATA TTTTATATATATATACACATATATATATTTTATATATATATATACACATA TATATTTTTATATATATATATTTTATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0263 a0003c0003t0001g0263	1	298	0.0034	-136	c.15+ others(15): Show c.15+4859_16-4913del		ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	2/28						chr19	TogoVar
ARHGEF7_chr13_111110310_111310732	111221205	AGATATAT others(129): Show AGATATATATGTCTATATATATCTATATAGATATATATGTCTATATATAT CTATATAGATATATATGTCTATATATATCTATATAGATATATATGTCTAT ATATATCTATATATAGATATATATGTCTATATATATC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(57): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01169.hp1 HG01192.hp2 HG01243.hp2 HG01346.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG01952.hp1 HG01978.hp1 HG02004.hp1 HG02572.hp2 HG02615.hp1 HG02647.hp2 HG02698.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03492.hp2 HG03516.hp1 HG03654.hp1 HG03710.hp2 HG03834.hp2 HG03942.hp2 HG04184.hp1 NA18522.hp1 NA18952.hp2 NA18957.hp2 NA18974.hp1 NA19000.hp2 NA19030.hp1 NA19043.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19077.hp1 NA19085.hp2 NA19088.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0013 a0001c0001 a0001c0008 a0001c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0001t0028 a0001c0001t0032 a0001c0008t0001 a0001c0013t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0014 others(57): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0027 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0066 a0001c0001t0001g0074 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0113 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0160 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0188 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0200 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0253 a0001c0001t0002g0091 a0001c0001t0003g0184 a0001c0001t0005g0116 a0001c0001t0007g0057 a0001c0001t0012g0013 a0001c0001t0028g0127 a0001c0001t0032g0030 a0001c0008t0001g0098 a0001c0008t0001g0109 a0001c0013t0001g0100	60	274	0.2190	-136	c.670 others(17): Show c.670+3326_670+3461del		ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding	5/21						chr13	TogoVar
ASMTL_chrX_1398139_1457909	1443253	ACGCCGCC others(129): Show ACGCCGCCGTCTTGGACACACACCGCCATCATGGACACACACCGCCATCT TGGACACACACCGCCATCTTGGACACACACCGCCATCTTGGACAGACACC GCCATCTTGGACACACACCACCATCATGGACACACGC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00408.hp1 others(130): Show HG00099.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01123.hp1 HG01169.hp2 HG01192.hp2 HG01257.hp1 HG01257.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01934.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02683.hp1 HG02723.hp1 HG02886.hp2 HG02896.hp1 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03486.hp2 HG03669.hp1 HG03834.hp1 HG03834.hp2 HG04184.hp1 HG04184.hp2 NA18940.hp2 NA18943.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18955.hp1 NA18959.hp1 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18980.hp1 NA18980.hp2 NA18984.hp1 NA18985.hp1 NA18988.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19007.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19064.hp1 NA19064.hp2 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA20129.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0000 a0001 a0002 others(14): Show a0000 a0001 a0002 a0003 a0004 a0005 a0008 a0009 a0011 a0012 a0015 a0017 a0018 a0019 a0020 a0021 a0022	a0000c0007 a0000c0030 a0000c0039 others(27): Show a0000c0007 a0000c0030 a0000c0039 a0001c0001 a0001c0008 a0001c0035 a0002c0003 a0002c0004 a0002c0009 a0002c0012 a0002c0014 a0002c0031 a0002c0034 a0003c0002 a0003c0005 a0003c0029 a0004c0006 a0004c0010 a0005c0037 a0008c0018 a0009c0020 a0011c0023 a0012c0024 a0015c0026 a0017c0022 a0018c0032 a0019c0021 a0020c0045 a0021c0019 a0022c0046	a0000c0007t0001 a0000c0030t0001 a0000c0039t0001 others(28): Show a0000c0007t0001 a0000c0030t0001 a0000c0039t0001 a0001c0001t0001 a0001c0008t0001 a0001c0035t0001 a0002c0003t0001 a0002c0004t0001 a0002c0009t0001 a0002c0012t0001 a0002c0014t0001 a0002c0031t0001 a0002c0034t0001 a0003c0002t0001 a0003c0002t0002 a0003c0005t0001 a0003c0029t0001 a0004c0006t0001 a0004c0010t0001 a0005c0037t0001 a0008c0018t0001 a0009c0020t0001 a0011c0023t0001 a0012c0024t0001 a0015c0026t0001 a0017c0022t0001 a0018c0032t0001 a0019c0021t0001 a0020c0045t0001 a0021c0019t0001 a0022c0046t0004	a0000c0007t0001g0033 a0000c0007t0001g0034 a0000c0007t0001g0043 others(130): Show a0000c0007t0001g0033 a0000c0007t0001g0034 a0000c0007t0001g0043 a0000c0007t0001g0044 a0000c0007t0001g0061 a0000c0007t0001g0086 a0000c0007t0001g0092 a0000c0007t0001g0126 a0000c0030t0001g0026 a0000c0039t0001g0148 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0070 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0129 a0001c0001t0001g0137 a0001c0001t0001g0156 a0001c0001t0001g0180 a0001c0008t0001g0004 a0001c0008t0001g0045 a0001c0008t0001g0088 a0001c0008t0001g0094 a0001c0008t0001g0127 a0001c0008t0001g0145 a0001c0008t0001g0154 a0001c0035t0001g0122 a0002c0003t0001g0042 a0002c0003t0001g0093 a0002c0003t0001g0104 a0002c0003t0001g0112 a0002c0003t0001g0143 a0002c0003t0001g0153 a0002c0004t0001g0030 a0002c0004t0001g0038 a0002c0004t0001g0065 a0002c0004t0001g0066 a0002c0004t0001g0077 a0002c0004t0001g0078 a0002c0004t0001g0089 a0002c0004t0001g0096 a0002c0004t0001g0124 a0002c0004t0001g0134 a0002c0004t0001g0138 a0002c0009t0001g0072 a0002c0009t0001g0111 a0002c0009t0001g0119 a0002c0009t0001g0128 a0002c0012t0001g0095 a0002c0012t0001g0103 a0002c0014t0001g0015 a0002c0031t0001g0131 a0002c0034t0001g0136 a0003c0002t0001g0003 a0003c0002t0001g0012 a0003c0002t0001g0027 a0003c0002t0001g0028 a0003c0002t0001g0047 a0003c0002t0001g0064 a0003c0002t0001g0071 a0003c0002t0001g0079 a0003c0002t0001g0080 a0003c0002t0001g0108 a0003c0002t0001g0109 a0003c0002t0001g0110 a0003c0002t0001g0130 a0003c0002t0001g0140 a0003c0002t0001g0141 a0003c0002t0001g0142 a0003c0002t0001g0144 a0003c0002t0001g0163 a0003c0002t0001g0170 a0003c0002t0002g0183 a0003c0005t0001g0037 a0003c0005t0001g0132 a0003c0005t0001g0139 a0003c0005t0001g0146 a0003c0005t0001g0179 a0003c0029t0001g0151 a0004c0006t0001g0016 a0004c0006t0001g0025 a0004c0006t0001g0058 a0004c0006t0001g0059 a0004c0006t0001g0084 a0004c0006t0001g0102 a0004c0006t0001g0133 a0004c0006t0001g0135 a0004c0010t0001g0029 a0004c0010t0001g0082 a0004c0010t0001g0123 a0004c0010t0001g0125 a0005c0037t0001g0162 a0008c0018t0001g0181 a0008c0018t0001g0182 a0009c0020t0001g0063 a0011c0023t0001g0155 a0012c0024t0001g0054 a0015c0026t0001g0114 a0017c0022t0001g0017 a0018c0032t0001g0105 a0019c0021t0001g0101 a0020c0045t0001g0046 a0021c0019t0001g0067 a0022c0046t0004g0184	133	185	0.7189	-136	c.94- others(14): Show c.94-1072_94-937del		ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	1/12						chrX	TogoVar
ATP11A_chr13_112685038_112892168	112804058	TTCCCTCC others(129): Show TTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCT CCTTTTCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCC CTCCTTCACCTCCCTCCCTGCCATCCCCTCTCTGCCC	T T	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG03486.hp1 HG01934.hp1 HG03486.hp1	a0001 a0001	a0001c0029 a0001c0030 a0001c0029 a0001c0030	a0001c0029t0051 a0001c0030t0001 a0001c0029t0051 a0001c0030t0001	a0001c0029t0051g0046 a0001c0030t0001g0103 a0001c0029t0051g0046 a0001c0030t0001g0103	2	254	0.0079	-136	c.163 others(15): Show c.163-895_163-760del		ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GALT1_chr2_167288001_167879045	167875978	TATATACA others(129): Show TATATACACGTATATATATATATACGTATATATATATATACGTATATATA TATATACGTATATATATATATATACGTATATATATATATGTATATATATA TATACGTATATATATATATGTATATATATATATATAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp2 HG03471.hp1 others(2): Show HG02615.hp1 HG02615.hp2 HG03471.hp1 HG03540.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0018 a0001c0001t0029 a0001c0001t0002 a0001c0001t0018 a0001c0001t0029	a0001c0001t0002g0011 a0001c0001t0002g0018 a0001c0001t0002g0073 others(2): Show a0001c0001t0002g0011 a0001c0001t0002g0018 a0001c0001t0002g0073 a0001c0001t0018g0060 a0001c0001t0029g0036	5	118	0.0424	-136	c.59 others(11): Show c.5959_*6094del		B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding					1934		chr2	TogoVar
B3GNTL1_chr17_82937149_83056770	83003542	CACTCTCT others(129): Show CACTCTCTGCAGTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCACTCTC TGCAGTCCGCGTGTGGGATTCCTGAGCCCACCCTCCCACTCTCTGCAGTC CGCGTGTGGGATTCCTGAGCTCGCCCTCCCACTCTCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0007 a0002c0005t0007	a0002c0005t0007g0235 a0002c0005t0007g0235	1	266	0.0038	-136	c.459 others(17): Show c.459+1437_459+1572del		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
B4GALNT4_chr11_364499_387117	374974	GGAGGAGG others(129): Show GGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGG GAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGG AGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGA	G G	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	184	0.0054	-136	c.784 others(15): Show c.784-486_784-351del		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19						chr11	TogoVar
BMP6_chr6_7721099_7886728	7741381	GAACTCCT others(129): Show GAACTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCTTGAGTAGCTGG ACTACTAGGCGTGTACCACCATGCCTGGCTAGTTGTTTTAATTTTTTGTA GAGATGGGGTCTCATTATGTTGCCCAGACTAGTCTCA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp2 others(103): Show HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00544.hp2 HG00597.hp2 HG00639.hp1 HG00673.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp2 HG01993.hp2 HG02004.hp1 HG02055.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02135.hp1 HG02148.hp1 HG02293.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG03130.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp2 NA18941.hp2 NA18949.hp1 NA18952.hp2 NA18963.hp1 NA18968.hp1 NA18986.hp1 NA18995.hp2 NA19004.hp1 NA19007.hp2 NA19010.hp1 NA19043.hp2 NA19056.hp2 NA19079.hp1 NA19085.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA20300.hp1 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0008	a0001c0001 a0001c0002 a0001c0009 others(11): Show a0001c0001 a0001c0002 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0018 a0001c0019 a0002c0003 a0002c0004 a0002c0008 a0003c0005 a0004c0007 a0008c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0022 a0001c0001t0041 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0016 a0001c0002t0028 a0001c0002t0029 a0001c0002t0032 a0001c0009t0001 a0001c0010t0003 a0001c0011t0001 a0001c0011t0003 a0001c0012t0018 a0001c0018t0003 a0001c0019t0037 a0002c0003t0001 a0002c0003t0005 a0002c0003t0012 a0002c0004t0002 a0002c0008t0001 a0003c0005t0004 a0003c0005t0008 a0003c0005t0034 a0004c0007t0002 a0008c0016t0001	a0001c0001t0001g0049 a0001c0001t0001g0100 a0001c0001t0001g0149 others(103): Show a0001c0001t0001g0049 a0001c0001t0001g0100 a0001c0001t0001g0149 a0001c0001t0001g0158 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0196 a0001c0001t0001g0202 a0001c0001t0002g0174 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0112 a0001c0001t0003g0136 a0001c0001t0003g0188 a0001c0001t0003g0190 a0001c0001t0003g0198 a0001c0001t0009g0059 a0001c0001t0011g0113 a0001c0001t0012g0192 a0001c0001t0022g0045 a0001c0001t0041g0031 a0001c0002t0001g0082 a0001c0002t0001g0148 a0001c0002t0001g0184 a0001c0002t0001g0223 a0001c0002t0002g0088 a0001c0002t0002g0092 a0001c0002t0002g0099 a0001c0002t0002g0102 a0001c0002t0002g0103 a0001c0002t0002g0108 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0159 a0001c0002t0002g0160 a0001c0002t0002g0161 a0001c0002t0002g0172 a0001c0002t0002g0181 a0001c0002t0002g0182 a0001c0002t0002g0185 a0001c0002t0002g0191 a0001c0002t0002g0194 a0001c0002t0002g0195 a0001c0002t0002g0197 a0001c0002t0002g0199 a0001c0002t0002g0200 a0001c0002t0002g0203 a0001c0002t0002g0218 a0001c0002t0005g0147 a0001c0002t0016g0052 a0001c0002t0028g0107 a0001c0002t0029g0105 a0001c0002t0032g0109 a0001c0009t0001g0193 a0001c0010t0003g0104 a0001c0010t0003g0106 a0001c0011t0001g0186 a0001c0011t0003g0154 a0001c0012t0018g0066 a0001c0012t0018g0067 a0001c0018t0003g0224 a0001c0019t0037g0073 a0002c0003t0001g0233 a0002c0003t0001g0251 a0002c0003t0001g0265 a0002c0003t0001g0268 a0002c0003t0001g0269 a0002c0003t0001g0291 a0002c0003t0001g0292 a0002c0003t0005g0238 a0002c0003t0005g0282 a0002c0003t0012g0232 a0002c0004t0002g0253 a0002c0004t0002g0263 a0002c0004t0002g0264 a0002c0004t0002g0266 a0002c0004t0002g0267 a0002c0004t0002g0270 a0002c0004t0002g0271 a0002c0004t0002g0272 a0002c0004t0002g0275 a0002c0004t0002g0276 a0002c0004t0002g0277 a0002c0004t0002g0281 a0002c0004t0002g0290 a0002c0004t0002g0295 a0002c0008t0001g0303 a0003c0005t0004g0012 a0003c0005t0004g0027 a0003c0005t0008g0008 a0003c0005t0008g0009 a0003c0005t0008g0010 a0003c0005t0008g0013 a0003c0005t0034g0011 a0004c0007t0002g0056 a0004c0007t0002g0057 a0008c0016t0001g0101	106	308	0.3442	-136	c.664 others(19): Show c.664+13915_664+14050del		BMP6	ENSG00000153162.9	transcript	ENST00000283147.7	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
BPIFA2_chr20_33163159_33186412	33185139	GGGCTGAC others(129): Show GGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCTGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCGGGGCGGGA GACTGACCCGCCCACCTCCCTCCCTGTCGGGGCGGCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	378	0.0027	-136	c.39 others(11): Show c.3954_*4089del		BPIFA2	ENSG00000131050.11	transcript	ENST00000354932.6	protein_coding					3728		chr20	TogoVar
BRDT_chr1_91944401_92019421	91962186	AAAAAAAT others(129): Show AAAAAAATCCAAGGCTAAGGCATATATAGTGAAACTTTTACTATTTGTAT ATAAAAAATTTGTATTTGTTTAAAAATTGATTCCTTTGCCATTTGGCTTT TTTTTTTTTTCATCCTGTCTTAATCATGATGTGCTTT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03209.hp1 HG02258.hp2 HG03209.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0136 a0004c0004t0002g0175 a0004c0004t0002g0136 a0004c0004t0002g0175	2	318	0.0063	-136	c.-37 others(15): Show c.-37-527_-37-392del		BRDT	ENSG00000137948.19	transcript	ENST00000399546.7	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr1	TogoVar
C16orf74_chr16_85702517_85756096	85748049	GCACTCCA others(129): Show GCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAATATATA TATATATACATATATATATATGTGTGTGTGTATATATATATGTGTGTGTA TATATATATATGTGTATATATATATATATACACATAC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(78): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00609.hp2 HG00639.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01256.hp2 HG01257.hp1 HG01358.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01978.hp1 HG01981.hp2 HG02004.hp2 HG02129.hp2 HG02135.hp1 HG02165.hp2 HG02257.hp1 HG02300.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02965.hp2 HG02976.hp1 HG03017.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG04115.hp2 HG06807.hp1 NA18612.hp1 NA18940.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18965.hp1 NA18968.hp2 NA18970.hp2 NA18972.hp2 NA18979.hp2 NA18982.hp2 NA18999.hp1 NA19000.hp2 NA19001.hp2 NA19003.hp1 NA19004.hp2 NA19010.hp2 NA19011.hp1 NA19058.hp2 NA19062.hp2 NA19063.hp1 NA19070.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19089.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0015 others(76): Show a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0041 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0065 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0162 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0007g0033	81	410	0.1976	-136	c.-19 others(17): Show c.-19+2741_-19+2876del		C16orf74	ENSG00000154102.11	transcript	ENST00000284245.9	protein_coding	1/3						chr16	TogoVar
C7orf50_chr7_992006_1143247	1001995	TCCTGTGG others(129): Show TCCTGTGGGTGAGTGGAGTCCTGTGGGTGGGGAGTCCTGTGGGTTAGTGG AGTCCTGCGGGTGGGGAGTCCTGTGGGTGGGGAGTCCTCTGGGTGAGTGG AGTCCTGTGGGTGGGAAGTCCTGTGGGTGAGTGGAGC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02970.hp2 HG03516.hp2 others(1): Show HG02109.hp2 HG02970.hp2 HG03516.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0158 a0001c0001t0014g0172 a0001c0001t0014g0173 others(1): Show a0001c0001t0014g0158 a0001c0001t0014g0172 a0001c0001t0014g0173 a0001c0001t0014g0174	4	326	0.0123	-136	c.324 others(17): Show c.324-1580_324-1445del		C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	3/4						chr7	TogoVar
C7orf50_chr7_992006_1143247	1128089	CGTCACCC others(129): Show CGTCACCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCATCCCACCGTC ACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCACCC GGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCTCA	C C	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	326	0.0031	-136	c.-1- others(13): Show c.-1-839_-1-704del		C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4						chr7	TogoVar
CACNG7_chr19_53904278_53948950	53921956	GCCCCAGG others(129): Show GCCCCAGGCCTGGTCATTGGTGGAGTTGCCCCAGGCCTGGTCATTGGTGG AGTTGTCCCCAGGTCTGGTCATTGGTGGAGTTGTCCCCAGGCCTGGTATT GGTGGAGTTGCCCCAGGTCTGGTATTGGTGGAGTTGT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp2 HG02145.hp2 others(3): Show HG01109.hp1 HG01243.hp2 HG02145.hp2 HG02615.hp2 HG02717.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0002	a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0021 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0002g0015 a0001c0001t0006g0020 a0001c0002t0002g0019	6	364	0.0165	-136	c.424 others(17): Show c.424+6538_424+6673del		CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr19	TogoVar
CDH7_chr18_65746012_65895337	65782016	CTCTCTCT others(129): Show CTCTCTCTTTCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTT CTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA20129.hp1 HG02723.hp1 NA20129.hp1	a0002 a0002	a0002c0004 a0002c0005 a0002c0004 a0002c0005	a0002c0004t0029 a0002c0005t0066 a0002c0004t0029 a0002c0005t0066	a0002c0004t0029g0197 a0002c0005t0066g0196 a0002c0004t0029g0197 a0002c0005t0066g0196	2	208	0.0096	-136	c.210 others(19): Show c.210+18968_210+19103del		CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr18	TogoVar
CDH8_chr16_61642250_62041438	61960200	TACATATA others(129): Show TACATATATACATGTGTGTGTGTATACACACATATATACATGTGTGTGTG TATACACATACATATATACGTGTGTGTGTATACACACATATATACGTGTG TGTGTATACACACATATATACGTGTGTGTGTATACAC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0077 a0001c0002t0077	a0001c0002t0077g0074 a0001c0002t0077g0074	1	168	0.0060	-136	c.253 others(19): Show c.253-58863_253-58728del		CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	2/11						chr16	TogoVar

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