Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
FRAS1_chr4_78052323_78549269	78483768	C C	CTATATAT others(21): Show CTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG03041.hp1 HG03710.hp2 others(5): Show HG00544.hp1 HG03041.hp1 HG03710.hp2 HG04115.hp1 HG04199.hp1 NA18941.hp1 NA18960.hp1 NA18960.hp2	a0001 a0003 a0007 others(3): Show a0001 a0003 a0007 a0073 a0084 a0091	a0001c0001 a0003c0002 a0007c0010 others(3): Show a0001c0001 a0003c0002 a0007c0010 a0073c0068 a0084c0060 a0091c0047	a0001c0001t0001 a0003c0002t0002 a0007c0010t0001 others(3): Show a0001c0001t0001 a0003c0002t0002 a0007c0010t0001 a0073c0068t0013 a0084c0060t0006 a0091c0047t0002	a0001c0001t0001g0086 a0003c0002t0002g0010 a0003c0002t0002g0020 others(5): Show a0001c0001t0001g0086 a0003c0002t0002g0010 a0003c0002t0002g0020 a0003c0002t0002g0051 a0007c0010t0001g0028 a0073c0068t0013g0166 a0084c0060t0006g0038 a0091c0047t0002g0031	8	75	0.1067	28	c.875 others(47): Show c.8752+1234_8752+1235insATATATATATATATATATATATATAT AT	FRAS1	ENSG00000138759.20	transcript	ENST00000512123.4	protein_coding	58/73		INFO_REALIGN_3_PRIME	chr4	TogoVar
FREM1_chr9_14732152_14915428	14780433	G G	GAAAAAAA others(21): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0004 a0004	a0004c0016 a0004c0016	a0004c0016t0001 a0004c0016t0001	a0004c0016t0001g0147 a0004c0016t0001g0147	1	163	0.0061	28	c.444 others(47): Show c.4442+3936_4442+3937insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	FREM1	ENSG00000164946.20	transcript	ENST00000380880.4	protein_coding	24/36			chr9	TogoVar
FREM1_chr9_14732152_14915428	14825547	G G	GTGTGTGT others(21): Show GTGTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0022 a0022	a0022c0211 a0022c0211	a0022c0211t0002 a0022c0211t0002	a0022c0211t0002g0119 a0022c0211t0002g0119	1	55	0.0182	28	c.188 others(45): Show c.1882-556_1882-555insTATATATATATATATATATATACACACA	FREM1	ENSG00000164946.20	transcript	ENST00000380880.4	protein_coding	10/36			chr9	TogoVar
FREM1_chr9_14732152_14915428	14825547	G G	GTGTGTGT others(21): Show GTGTGTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02683.hp2 NA20752.hp2 HG02683.hp2 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0040 a0003c0003 a0001c0040 a0003c0003	a0001c0040t0001 a0003c0003t0001 a0001c0040t0001 a0003c0003t0001	a0001c0040t0001g0337 a0003c0003t0001g0299 a0001c0040t0001g0337 a0003c0003t0001g0299	2	56	0.0357	28	c.188 others(45): Show c.1882-556_1882-555insTATATATATATATATATATACACACACA	FREM1	ENSG00000164946.20	transcript	ENST00000380880.4	protein_coding	10/36			chr9	TogoVar
FREM1_chr9_14732152_14915428	14847400	A A	AGAAGGAA others(21): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00438.hp2 others(36): Show HG00099.hp2 HG00408.hp1 HG00438.hp2 HG01074.hp1 HG01106.hp1 HG01168.hp1 HG01168.hp2 HG01255.hp1 HG01516.hp1 HG01928.hp2 HG02132.hp1 HG02293.hp2 HG02615.hp2 HG02622.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02976.hp2 HG03209.hp2 HG03491.hp1 HG03669.hp2 HG03688.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp1 NA18612.hp2 NA18949.hp2 NA18952.hp2 NA18953.hp1 NA18974.hp2 NA18985.hp1 NA19001.hp2 NA19003.hp2 NA19043.hp1 NA19056.hp1 NA19065.hp1 NA19077.hp1 NA19077.hp2 NA19091.hp1	a0001 a0002 a0003 others(22): Show a0001 a0002 a0003 a0004 a0005 a0009 a0010 a0011 a0014 a0017 a0018 a0027 a0041 a0042 a0045 a0049 a0055 a0072 a0073 a0079 a0083 a0092 a0097 a0101 a0110	a0001c0002 a0001c0011 a0002c0001 others(30): Show a0001c0002 a0001c0011 a0002c0001 a0003c0007 a0003c0052 a0003c0079 a0003c0181 a0004c0004 a0004c0015 a0005c0120 a0009c0199 a0010c0025 a0011c0035 a0011c0107 a0011c0167 a0014c0009 a0017c0018 a0018c0104 a0018c0226 a0027c0034 a0041c0114 a0042c0036 a0045c0186 a0049c0091 a0055c0118 a0072c0092 a0073c0138 a0079c0101 a0083c0093 a0092c0112 a0097c0229 a0101c0127 a0110c0081	a0001c0002t0002 a0001c0011t0001 a0002c0001t0002 others(32): Show a0001c0002t0002 a0001c0011t0001 a0002c0001t0002 a0002c0001t0009 a0003c0007t0001 a0003c0052t0001 a0003c0079t0001 a0003c0181t0002 a0004c0004t0001 a0004c0015t0001 a0005c0120t0001 a0009c0199t0002 a0010c0025t0001 a0011c0035t0007 a0011c0107t0001 a0011c0167t0001 a0014c0009t0001 a0017c0018t0001 a0018c0104t0001 a0018c0226t0002 a0027c0034t0002 a0041c0114t0003 a0042c0036t0001 a0042c0036t0002 a0045c0186t0002 a0049c0091t0001 a0055c0118t0001 a0072c0092t0003 a0073c0138t0001 a0079c0101t0003 a0083c0093t0003 a0092c0112t0001 a0097c0229t0001 a0101c0127t0001 a0110c0081t0001	a0001c0002t0002g0105 a0001c0011t0001g0024 a0002c0001t0002g0030 others(36): Show a0001c0002t0002g0105 a0001c0011t0001g0024 a0002c0001t0002g0030 a0002c0001t0002g0040 a0002c0001t0002g0171 a0002c0001t0009g0345 a0003c0007t0001g0134 a0003c0007t0001g0194 a0003c0052t0001g0034 a0003c0052t0001g0035 a0003c0079t0001g0136 a0003c0181t0002g0318 a0004c0004t0001g0017 a0004c0015t0001g0162 a0005c0120t0001g0291 a0009c0199t0002g0178 a0010c0025t0001g0298 a0011c0035t0007g0308 a0011c0107t0001g0122 a0011c0167t0001g0275 a0014c0009t0001g0230 a0017c0018t0001g0225 a0018c0104t0001g0340 a0018c0226t0002g0123 a0027c0034t0002g0330 a0041c0114t0003g0213 a0042c0036t0001g0075 a0042c0036t0002g0111 a0045c0186t0002g0187 a0049c0091t0001g0236 a0055c0118t0001g0323 a0072c0092t0003g0051 a0073c0138t0001g0064 a0079c0101t0003g0212 a0083c0093t0003g0044 a0092c0112t0001g0186 a0097c0229t0001g0164 a0101c0127t0001g0294 a0110c0081t0001g0193	39	123	0.3171	28	c.126 others(47): Show c.1261+1237_1261+1264dupCTTCCTTCCTTCCTTCCTTCCTTCCT TC	FREM1	ENSG00000164946.20	transcript	ENST00000380880.4	protein_coding	7/36			chr9	TogoVar
FREM1_chr9_14732152_14915428	14847426	A A	AAGGAAGG others(21): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG03130.hp1 HG03225.hp2 others(1): Show HG00609.hp2 HG03130.hp1 HG03225.hp2 NA18974.hp1	a0003 a0009 a0031 others(1): Show a0003 a0009 a0031 a0088	a0003c0003 a0009c0124 a0031c0046 others(1): Show a0003c0003 a0009c0124 a0031c0046 a0088c0165	a0003c0003t0002 a0009c0124t0001 a0031c0046t0006 others(1): Show a0003c0003t0002 a0009c0124t0001 a0031c0046t0006 a0088c0165t0006	a0003c0003t0002g0329 a0009c0124t0001g0284 a0031c0046t0006g0090 others(1): Show a0003c0003t0002g0329 a0009c0124t0001g0284 a0031c0046t0006g0090 a0088c0165t0006g0069	4	324	0.0123	28	c.126 others(47): Show c.1261+1238_1261+1239insCCCTTCCTTCCTTCCTTCCTTCCTTC CT	FREM1	ENSG00000164946.20	transcript	ENST00000380880.4	protein_coding	7/36			chr9	TogoVar
FRG2C_chr3_75659328_75672173	75671915	G G	GAGAGAGA others(21): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0003 a0001c0003t0003g0003	1	357	0.0028	28	c.58 others(39): Show c.5874_*5875insAGAGAGAGAGAGAGAGAGAGAGAGAGAC	FRG2C	ENSG00000172969.8	transcript	ENST00000308062.8	protein_coding		4743		chr3	TogoVar
FRMD1_chr6_168048095_168084212	168078796	G G	GGCCCTGC others(21): Show GGCCCTGCTCACCCCCACGGCCACCCGGA	intron_variant intron_variant	MODIFIER	HG03942.hp2 NA20905.hp1 HG03942.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	395	0.0051	28	c.213 others(41): Show c.213+58_213+85dupTCCGGGTGGCCGTGGGGGTGAGCAGGGC	FRMD1	ENSG00000153303.18	transcript	ENST00000283309.11	protein_coding	1/10			chr6	TogoVar
FRMD3_chr9_83239622_83543401	83378830	T T	TATATATA others(21): Show TATATATACTATATATAAATTTTATATAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02922.hp2 HG02717.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0036 a0001c0001t0006g0037 a0001c0001t0006g0036 a0001c0001t0006g0037	2	227	0.0088	28	c.253 others(45): Show c.253-5903_253-5876dupTTATATAAAATTTATATATAGTATATAT	FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	2/13			chr9	TogoVar
FRMD4A_chr10_13638706_14335924	13679474	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01891.hp2 HG03486.hp1 HG01516.hp2 HG01891.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0016 a0001c0002t0025 a0001c0001t0001 a0001c0001t0016 a0001c0002t0025	a0001c0001t0001g0031 a0001c0001t0016g0002 a0001c0002t0025g0063 a0001c0001t0001g0031 a0001c0001t0016g0002 a0001c0002t0025g0063	3	56	0.0536	28	c.111 others(47): Show c.1118-4458_1118-4431dupGTGTGTGTGTGTGTGTGTGTGTGTGT GT	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	15/24			chr10	TogoVar
FRMD4A_chr10_13638706_14335924	13679474	T T	TATATACA others(21): Show TATATACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0048 a0001c0002t0007g0048	1	54	0.0185	28	c.111 others(47): Show c.1118-4431_1118-4430insGTGTGTGTGTGTGTGTGTGTGTGTAT AT	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	15/24			chr10	TogoVar
FRMD4A_chr10_13638706_14335924	13679474	T T	TATATATA others(21): Show TATATATACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	54	0.0185	28	c.111 others(47): Show c.1118-4431_1118-4430insGTGTGTGTGTGTGTGTGTGTGTATAT AT	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	15/24			chr10	TogoVar
FRMD4A_chr10_13638706_14335924	13729132	C C	CGCCCAAG others(21): Show CGCCCAAGGCCAGGGTCTGTCACCCACAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(84): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01516.hp1 HG01516.hp2 HG01891.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02273.hp2 HG02523.hp1 HG02572.hp1 HG02622.hp2 HG02630.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02897.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03540.hp1 HG03540.hp2 HG03688.hp1 HG03688.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 NA18747.hp1 NA18906.hp2 NA18957.hp1 NA18957.hp2 NA18971.hp1 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19043.hp1 NA19065.hp1 NA19065.hp2 NA19074.hp1 NA19074.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0002t0014 a0001c0003t0001 a0001c0003t0003 a0001c0003t0018 a0001c0009t0002 a0002c0004t0002 a0002c0004t0010	a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0013 others(84): Show a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0041 a0001c0001t0001g0065 a0001c0001t0001g0096 a0001c0001t0001g0103 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0002g0007 a0001c0001t0002g0020 a0001c0001t0002g0024 a0001c0001t0002g0034 a0001c0001t0002g0039 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0054 a0001c0001t0002g0067 a0001c0001t0002g0072 a0001c0001t0002g0083 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0110 a0001c0001t0002g0128 a0001c0001t0003g0019 a0001c0001t0003g0021 a0001c0001t0003g0079 a0001c0001t0003g0104 a0001c0001t0004g0008 a0001c0001t0004g0025 a0001c0001t0004g0046 a0001c0001t0004g0052 a0001c0001t0004g0070 a0001c0001t0004g0073 a0001c0001t0004g0130 a0001c0001t0005g0023 a0001c0001t0005g0030 a0001c0001t0005g0056 a0001c0001t0005g0109 a0001c0001t0005g0123 a0001c0001t0005g0124 a0001c0001t0006g0035 a0001c0001t0006g0044 a0001c0001t0006g0085 a0001c0001t0006g0113 a0001c0001t0007g0015 a0001c0001t0007g0060 a0001c0001t0007g0107 a0001c0001t0008g0022 a0001c0001t0008g0036 a0001c0001t0008g0077 a0001c0001t0008g0102 a0001c0001t0008g0106 a0001c0001t0011g0032 a0001c0001t0011g0090 a0001c0001t0015g0037 a0001c0001t0016g0002 a0001c0001t0019g0064 a0001c0001t0020g0026 a0001c0001t0021g0059 a0001c0001t0026g0120 a0001c0001t0027g0097 a0001c0001t0029g0133 a0001c0002t0002g0049 a0001c0002t0002g0066 a0001c0002t0004g0108 a0001c0002t0007g0048 a0001c0002t0007g0126 a0001c0002t0014g0082 a0001c0003t0001g0071 a0001c0003t0001g0078 a0001c0003t0001g0105 a0001c0003t0003g0080 a0001c0003t0018g0011 a0001c0009t0002g0006 a0002c0004t0002g0084 a0002c0004t0002g0095 a0002c0004t0010g0076	87	134	0.6493	28	c.759 others(45): Show c.759+8711_759+8712insCTGTGGGTGACAGACCCTGGCCTTGGGC	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	12/24			chr10	TogoVar
FRMD4A_chr10_13638706_14335924	13750089	A A	AAAGAAAG others(21): Show AAAGAAAGAAAGAAAGAAAGAAAGAAATG	intron_variant intron_variant	MODIFIER	HG02273.hp2 NA18747.hp2 NA20300.hp1 HG02273.hp2 NA18747.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0038 a0001c0001t0002g0110 a0001c0002t0001g0116 a0001c0001t0002g0038 a0001c0001t0002g0110 a0001c0002t0001g0116	3	110	0.0273	28	c.465 others(45): Show c.465-2271_465-2270insCATTTCTTTCTTTCTTTCTTTCTTTCTT	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	8/24			chr10	TogoVar
FRMD4A_chr10_13638706_14335924	13750089	A A	AAAGAAAG others(21): Show AAAGAAAGAAAGAAAGAAAGAAATAAATG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0124 a0001c0001t0005g0124	1	108	0.0093	28	c.465 others(45): Show c.465-2271_465-2270insCATTTATTTCTTTCTTTCTTTCTTTCTT	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	8/24			chr10	TogoVar
FRMD4A_chr10_13638706_14335924	13750093	A A	AAAGAAAG others(21): Show AAAGAAAGAAAGAAAGAAAGAAAGAAATG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01358.hp1 HG01261.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0024 a0001c0001t0011g0090 a0001c0001t0002g0024 a0001c0001t0011g0090	2	111	0.0180	28	c.465 others(45): Show c.465-2275_465-2274insCATTTCTTTCTTTCTTTCTTTCTTTCTT	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	8/24			chr10	TogoVar
FRMD4A_chr10_13638706_14335924	13878822	G G	GGGAAGGA others(21): Show GGGAAGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01891.hp1 HG02280.hp1 others(3): Show HG01106.hp1 HG01891.hp1 HG02280.hp1 HG03453.hp2 HG03486.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0009 a0001c0001t0022 others(2): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0022 a0001c0001t0028 a0001c0002t0025	a0001c0001t0001g0028 a0001c0001t0001g0117 a0001c0001t0009g0055 others(3): Show a0001c0001t0001g0028 a0001c0001t0001g0117 a0001c0001t0009g0055 a0001c0001t0022g0051 a0001c0001t0028g0134 a0001c0002t0025g0063	6	7	0.8571	28	c.46- others(45): Show c.46-19938_46-19911dupTTCCTTCCTTCCTTCCTTCCTTCCTTCC	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	2/24			chr10	TogoVar
FRMD4A_chr10_13638706_14335924	13878822	G G	GGGAGGGA others(21): Show GGGAGGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02559.hp1 HG02055.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0013 a0001c0001t0004 a0001c0001t0013	a0001c0001t0004g0073 a0001c0001t0013g0074 a0001c0001t0004g0073 a0001c0001t0013g0074	2	3	0.6667	28	c.46- others(45): Show c.46-19911_46-19910insTTCCTTCCTTCCTTCCTTCCTTCCCTCC	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	2/24			chr10	TogoVar
FRMD4A_chr10_13638706_14335924	13921270	C C	CTCTTTCT others(21): Show CTCTTTCTCTCTTTCTCTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00408.hp1 others(94): Show HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01516.hp2 HG01891.hp2 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02148.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18971.hp1 NA18971.hp2 NA19009.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19065.hp1 NA19074.hp1 NA19074.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0009 a0001c0011 a0002c0004 a0002c0006 a0003c0007 a0004c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0026 a0001c0001t0028 a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0002t0014 a0001c0002t0017 a0001c0002t0024 a0001c0003t0001 a0001c0003t0003 a0001c0005t0003 a0001c0009t0002 a0001c0011t0002 a0002c0004t0002 a0002c0004t0010 a0002c0006t0010 a0003c0007t0003 a0004c0010t0012	a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0017 others(94): Show a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0041 a0001c0001t0001g0050 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0081 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0020 a0001c0001t0002g0024 a0001c0001t0002g0034 a0001c0001t0002g0067 a0001c0001t0002g0072 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0100 a0001c0001t0002g0110 a0001c0001t0002g0121 a0001c0001t0003g0019 a0001c0001t0003g0021 a0001c0001t0003g0079 a0001c0001t0003g0089 a0001c0001t0003g0091 a0001c0001t0003g0122 a0001c0001t0003g0127 a0001c0001t0004g0008 a0001c0001t0004g0014 a0001c0001t0004g0016 a0001c0001t0004g0025 a0001c0001t0004g0046 a0001c0001t0004g0052 a0001c0001t0004g0070 a0001c0001t0004g0073 a0001c0001t0004g0130 a0001c0001t0005g0023 a0001c0001t0005g0045 a0001c0001t0005g0056 a0001c0001t0005g0119 a0001c0001t0005g0123 a0001c0001t0005g0124 a0001c0001t0006g0035 a0001c0001t0006g0044 a0001c0001t0006g0085 a0001c0001t0006g0088 a0001c0001t0006g0113 a0001c0001t0006g0125 a0001c0001t0007g0015 a0001c0001t0007g0060 a0001c0001t0007g0094 a0001c0001t0007g0107 a0001c0001t0008g0022 a0001c0001t0008g0077 a0001c0001t0008g0106 a0001c0001t0009g0047 a0001c0001t0009g0098 a0001c0001t0011g0090 a0001c0001t0012g0069 a0001c0001t0013g0074 a0001c0001t0015g0037 a0001c0001t0016g0002 a0001c0001t0019g0064 a0001c0001t0020g0026 a0001c0001t0021g0059 a0001c0001t0023g0075 a0001c0001t0026g0120 a0001c0001t0028g0134 a0001c0002t0002g0049 a0001c0002t0002g0066 a0001c0002t0004g0108 a0001c0002t0007g0048 a0001c0002t0014g0082 a0001c0002t0017g0131 a0001c0002t0024g0057 a0001c0003t0001g0010 a0001c0003t0001g0078 a0001c0003t0001g0105 a0001c0003t0003g0080 a0001c0005t0003g0003 a0001c0009t0002g0006 a0001c0011t0002g0101 a0002c0004t0002g0084 a0002c0004t0010g0053 a0002c0004t0010g0076 a0002c0006t0010g0058 a0003c0007t0003g0068 a0004c0010t0012g0001	97	114	0.8509	28	c.46- others(45): Show c.46-62359_46-62358insAAGAAAGAAAGAGAGAAAGAGAGAAAGA	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	2/24			chr10	TogoVar
FRMD4A_chr10_13638706_14335924	14039407	C C	CATCTATC others(21): Show CATCTATCTATCTATCTATCTATCTATCT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0098 a0001c0001t0009g0098	1	84	0.0119	28	c.46- others(47): Show c.46-180496_46-180495insAGATAGATAGATAGATAGATAGATAG AT	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	2/24			chr10	TogoVar
FRMD4A_chr10_13638706_14335924	14319349	C C	CCTCTCTC others(21): Show CCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01261.hp2 HG04184.hp2 others(1): Show HG01123.hp2 HG01261.hp2 HG04184.hp2 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0015 a0001c0001t0001 a0001c0001t0005 a0001c0001t0015	a0001c0001t0001g0013 a0001c0001t0001g0033 a0001c0001t0005g0045 others(1): Show a0001c0001t0001g0013 a0001c0001t0001g0033 a0001c0001t0005g0045 a0001c0001t0015g0037	4	61	0.0656	28	c.45+ others(45): Show c.45+10708_45+10709insAGAGAGAGAGAGAGAGAGAGAGAGAGAG	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	2/24			chr10	TogoVar
FRMD4A_chr10_13638706_14335924	14319367	T T	TCTCTCTC others(21): Show TCTCTCTCTCTCTCTCTCTCTCTCACACA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0066 a0001c0002t0002g0066	1	100	0.0100	28	c.45+ others(45): Show c.45+10690_45+10691insTGTGTGAGAGAGAGAGAGAGAGAGAGAG	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	2/24			chr10	TogoVar
FRMD4B_chr3_69163782_69391088	69325085	A A	AAAAGAAA others(21): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0004 a0005c0007t0004	a0005c0007t0004g0047 a0005c0007t0004g0047	1	18	0.0556	28	c.163 others(47): Show c.163-11596_163-11569dupCTTTCTTTCTTTCTTTCTTTCTTTCT TT	FRMD4B	ENSG00000114541.15	transcript	ENST00000398540.8	protein_coding	1/22			chr3	TogoVar
FRMD5_chr15_43865764_44200271	43875363	A A	AAAAAATA others(21): Show AAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0105 a0001c0002t0018g0105	1	60	0.0167	28	c.113 others(45): Show c.1136-902_1136-901insATATATATATATATATATATATATTTTT	FRMD5	ENSG00000171877.21	transcript	ENST00000417257.6	protein_coding	13/13			chr15	TogoVar
FRMD5_chr15_43865764_44200271	43875804	G G	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0140 a0001c0001t0006g0140	1	49	0.0204	28	c.113 others(47): Show c.1136-1343_1136-1342insAAAAAAAAAAAAAAAAAAAAAAAAAA AA	FRMD5	ENSG00000171877.21	transcript	ENST00000417257.6	protein_coding	13/13			chr15	TogoVar
FRMD5_chr15_43865764_44200271	43914723	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01981.hp1 HG02647.hp1 others(4): Show HG01361.hp1 HG01981.hp1 HG02647.hp1 HG02723.hp2 HG03130.hp2 HG03195.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0087 a0001c0001t0001g0112 a0001c0001t0001g0123 others(4): Show a0001c0001t0001g0087 a0001c0001t0001g0112 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0138 a0001c0001t0002g0128 a0001c0001t0003g0066	7	64	0.1094	28	c.329 others(45): Show c.329+4735_329+4736insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	FRMD5	ENSG00000171877.21	transcript	ENST00000417257.6	protein_coding	4/13			chr15	TogoVar
FRMD6_chr14_51646910_51735727	51721753	A A	AGGAGGGA others(21): Show AGGAGGGAAGGAGGGAAGGAGGGAAGGAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp2 others(121): Show HG00099.hp2 HG00140.hp2 HG00323.hp2 HG00544.hp1 HG00597.hp1 HG00609.hp2 HG00673.hp1 HG00733.hp2 HG00738.hp1 HG01074.hp2 HG01099.hp2 HG01109.hp2 HG01168.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01978.hp2 HG01981.hp2 HG02040.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02717.hp1 HG02735.hp2 HG02809.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG03041.hp2 HG03130.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03688.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18949.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18957.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18970.hp1 NA18973.hp1 NA18974.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18981.hp2 NA18984.hp2 NA18986.hp1 NA18988.hp2 NA18991.hp2 NA18993.hp1 NA18995.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19006.hp2 NA19009.hp1 NA19010.hp1 NA19054.hp1 NA19063.hp1 NA19066.hp1 NA19067.hp1 NA19072.hp2 NA19074.hp2 NA19079.hp1 NA19085.hp1 NA19087.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0002 a0001c0015 others(2): Show a0001c0001 a0001c0002 a0001c0015 a0004c0016 a0005c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0002t0002 a0001c0015t0001 a0004c0016t0002 a0005c0012t0002	a0001c0001t0001g0111 a0001c0001t0001g0162 a0001c0001t0001g0166 others(95): Show a0001c0001t0001g0111 a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0001g0198 a0001c0001t0001g0205 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0058 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0132 a0001c0001t0002g0138 a0001c0001t0002g0144 a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0176 a0001c0001t0002g0190 a0001c0001t0002g0193 a0001c0001t0002g0199 a0001c0001t0002g0207 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0248 a0001c0001t0002g0275 a0001c0001t0002g0285 a0001c0001t0002g0295 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0304 a0001c0001t0006g0021 a0001c0001t0006g0063 a0001c0001t0007g0119 a0001c0001t0007g0139 a0001c0001t0007g0157 a0001c0001t0010g0002 a0001c0001t0010g0109 a0001c0001t0011g0130 a0001c0001t0011g0131 a0001c0001t0018g0030 a0001c0001t0019g0101 a0001c0001t0020g0129 a0001c0001t0023g0062 a0001c0001t0024g0123 a0001c0002t0002g0200 a0001c0015t0001g0237 a0004c0016t0002g0104 a0005c0012t0002g0206	124	225	0.5511	28	c.136 others(45): Show c.1361-193_1361-192insGGGAAGGAGGGAAGGAGGGAAGGAGGGA	FRMD6	ENSG00000139926.16	transcript	ENST00000344768.10	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
FRMD7_chrX_132071990_132133020	132107604	G G	GGAGAGAG others(21): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03225.hp1 HG03471.hp1 others(1): Show HG01884.hp1 HG03225.hp1 HG03471.hp1 NA18522.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0111 a0003c0004t0004g0112 a0003c0004t0004g0113 others(1): Show a0003c0004t0004g0111 a0003c0004t0004g0112 a0003c0004t0004g0113 a0003c0004t0004g0140	4	148	0.0270	28	c.58- others(43): Show c.58-6916_58-6889dupTCTCTCTCTCTCTCTCTCTCTCTCTCTC	FRMD7	ENSG00000165694.11	transcript	ENST00000298542.9	protein_coding	1/11			chrX	TogoVar
FRMPD2_chr10_48151562_48279696	48181858	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA18945.hp1 NA18964.hp2 HG02080.hp2 NA18945.hp1 NA18964.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0106 a0002c0002t0001g0211 a0002c0002t0003g0188 a0002c0002t0001g0106 a0002c0002t0001g0211 a0002c0002t0003g0188	3	110	0.0273	28	c.258 others(45): Show c.2585-851_2585-850insATATATATATATATATATATATATATAT	FRMPD2	ENSG00000170324.21	transcript	ENST00000374201.8	protein_coding	20/28			chr10	TogoVar
FRMPD4_chrX_12133473_12729523	12231030	G G	GTATGTAT others(21): Show GTATGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0030 a0002c0004t0001g0030	1	91	0.0110	28	c.41+ others(45): Show c.41+92021_41+92022insGTATATATATATATATATATATATATAT	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	1/16		INFO_REALIGN_3_PRIME	chrX	TogoVar
FRMPD4_chrX_12133473_12729523	12331914	A A	TTATATAT others(21): Show TTATATATTTATATACTATATATAAATTA	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA19030.hp2 HG02818.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0001 a0001c0016t0002 a0001c0001t0001 a0001c0016t0002	a0001c0001t0001g0172 a0001c0016t0002g0023 a0001c0001t0001g0172 a0001c0016t0002g0023	2	169	0.0118	28	c.42- others(47): Show c.42-166767_42-166766insTTATATATTTATATACTATATATAAA TT	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	1/16			chrX	TogoVar
FRMPD4_chrX_12133473_12729523	12388850	T T	TATATATA others(21): Show TATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0170 a0002c0003t0001g0170	1	134	0.0075	28	c.42- others(47): Show c.42-109829_42-109828insTATATATATATATATATATATACACA CA	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	1/16		INFO_REALIGN_3_PRIME	chrX	TogoVar
FRMPD4_chrX_12133473_12729523	12481942	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0123	1	29	0.0345	28	c.42- others(45): Show c.42-16736_42-16709dupAAAAAAAAAAAAAAAAAAAAAAAAAAAA	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	1/16		INFO_REALIGN_3_PRIME	chrX	TogoVar
FRMPD4_chrX_12133473_12729523	12553466	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0151 a0001c0002t0002g0151	1	123	0.0081	28	c.158 others(47): Show c.158+54671_158+54672insATATATATATATATATATATATATAT CT	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chrX	TogoVar
FRS2_chr12_69465388_69584793	69485085	A A	ACACACAC others(21): Show ACACACACACACACACACACACACACACG	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0307 a0001c0001t0002g0307	1	323	0.0031	28	c.-26 others(49): Show c.-261+14582_-261+14583insGCACACACACACACACACACACAC ACAC	FRS2	ENSG00000166225.9	transcript	ENST00000549921.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
FRS2_chr12_69465388_69584793	69485085	A A	ACACACAC others(21): Show ACACACACACACACACACACACACACGCG	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA19002.hp1 NA19057.hp2 NA18987.hp1 NA19002.hp1 NA19057.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0002 a0001c0001t0002 a0003c0003t0002	a0001c0001t0002g0304 a0001c0001t0002g0322 a0003c0003t0002g0324 a0001c0001t0002g0304 a0001c0001t0002g0322 a0003c0003t0002g0324	3	325	0.0092	28	c.-26 others(49): Show c.-261+14580_-261+14581insGCGCACACACACACACACACACAC ACAC	FRS2	ENSG00000166225.9	transcript	ENST00000549921.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
FRS2_chr12_69465388_69584793	69485087	A A	ACACACAC others(21): Show ACACACACACACACACACACACACACACG	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA19062.hp2 NA18942.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0288 a0001c0001t0002g0327 a0001c0001t0002g0288 a0001c0001t0002g0327	2	308	0.0065	28	c.-26 others(49): Show c.-261+14584_-261+14585insGCACACACACACACACACACACAC ACAC	FRS2	ENSG00000166225.9	transcript	ENST00000549921.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
FRS2_chr12_69465388_69584793	69485087	A A	ACACACAC others(21): Show ACACACACACACACACACACACACACGCG	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02040.hp2 HG02129.hp1 others(26): Show HG01952.hp1 HG02040.hp2 HG02129.hp1 HG02735.hp2 NA18944.hp2 NA18945.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18968.hp2 NA18980.hp1 NA18982.hp2 NA18992.hp1 NA18994.hp2 NA18995.hp2 NA19004.hp2 NA19005.hp1 NA19054.hp1 NA19060.hp2 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19068.hp2 NA19070.hp1 NA19072.hp2 NA19077.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0016 a0001c0002t0001 a0001c0001t0002 a0001c0001t0016 a0001c0002t0001	a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0065 others(26): Show a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0203 a0001c0001t0002g0208 a0001c0001t0002g0286 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0016g0063 a0001c0001t0016g0064 a0001c0001t0016g0066 a0001c0002t0001g0313	29	335	0.0866	28	c.-26 others(49): Show c.-261+14582_-261+14583insGCGCACACACACACACACACACAC ACAC	FRS2	ENSG00000166225.9	transcript	ENST00000549921.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
FRS2_chr12_69465388_69584793	69485089	A A	ACACACAC others(21): Show ACACACACACACACACACACACACGCGCG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03130.hp2 HG03041.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0280 a0001c0001t0002g0281	2	326	0.0061	28	c.-26 others(49): Show c.-261+14582_-261+14583insGCGCGCACACACACACACACACAC ACAC	FRS2	ENSG00000166225.9	transcript	ENST00000549921.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
FRS2_chr12_69465388_69584793	69485091	A A	ACACACAC others(21): Show ACACACACACACACACACACACACGCGCG	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0289 a0001c0001t0002g0289	1	338	0.0030	28	c.-26 others(49): Show c.-261+14584_-261+14585insGCGCGCACACACACACACACACAC ACAC	FRS2	ENSG00000166225.9	transcript	ENST00000549921.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
FRS2_chr12_69465388_69584793	69485134	C C	CACACACA others(21): Show CACACACACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0172 a0001c0002t0001g0172	1	111	0.0090	28	c.-26 others(49): Show c.-261+14606_-261+14607insACACACACACACACACACACACAC ATAC	FRS2	ENSG00000166225.9	transcript	ENST00000549921.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
FRS2_chr12_69465388_69584793	69538197	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp2 HG02056.hp2 others(8): Show HG01361.hp1 HG01361.hp2 HG02056.hp2 HG02735.hp1 HG02965.hp1 HG03130.hp1 NA18947.hp2 NA18959.hp1 NA19055.hp2 NA19090.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0013 a0001c0001t0025 others(2): Show a0001c0001t0005 a0001c0001t0013 a0001c0001t0025 a0001c0002t0001 a0001c0002t0011	a0001c0001t0005g0015 a0001c0001t0013g0148 a0001c0001t0025g0013 others(8): Show a0001c0001t0005g0015 a0001c0001t0013g0148 a0001c0001t0025g0013 a0001c0002t0001g0138 a0001c0002t0001g0140 a0001c0002t0001g0150 a0001c0002t0001g0194 a0001c0002t0001g0200 a0001c0002t0001g0214 a0001c0002t0001g0251 a0001c0002t0011g0111	11	187	0.0588	28	c.-12 others(47): Show c.-122+6167_-122+6168insTATATATATATATATATATATATATA TA	FRS2	ENSG00000166225.9	transcript	ENST00000549921.6	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
FRYL_chr4_48492357_48785279	48592082	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01975.hp2 HG02523.hp1 others(2): Show HG01074.hp2 HG01975.hp2 HG02523.hp1 NA18978.hp2 NA19003.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0069 a0001c0002t0001g0071 a0001c0002t0001g0100 others(2): Show a0001c0002t0001g0069 a0001c0002t0001g0071 a0001c0002t0001g0100 a0001c0002t0001g0107 a0001c0002t0001g0193	5	12	0.4167	28	c.133 others(47): Show c.1336-1280_1336-1253dupTATATATATATATATATATATATATA TA	FRYL	ENSG00000075539.15	transcript	ENST00000358350.9	protein_coding	16/63			chr4	TogoVar
FRYL_chr4_48492357_48785279	48645122	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	279	0.0036	28	c.-80 others(47): Show c.-80-10633_-80-10632insTATATATATATATATATATATATATA TA	FRYL	ENSG00000075539.15	transcript	ENST00000358350.9	protein_coding	3/63			chr4	TogoVar
FRYL_chr4_48492357_48785279	48645124	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01192.hp1 HG01358.hp2 others(9): Show HG01070.hp1 HG01192.hp1 HG01358.hp2 HG01361.hp1 HG01943.hp1 HG01978.hp2 HG02258.hp1 HG02451.hp1 NA18991.hp2 NA19003.hp2 NA19085.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0022 a0001c0001 a0001c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0022t0003	a0001c0001t0001g0122 a0001c0001t0001g0130 a0001c0001t0001g0131 others(9): Show a0001c0001t0001g0122 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0140 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0199 a0001c0001t0001g0205 a0001c0001t0002g0276 a0001c0001t0002g0278 a0001c0001t0010g0141 a0001c0022t0003g0002	12	21	0.5714	28	c.-80 others(47): Show c.-80-10662_-80-10635dupTATATATATATATATATATATATATA TA	FRYL	ENSG00000075539.15	transcript	ENST00000358350.9	protein_coding	3/63			chr4	TogoVar
FRYL_chr4_48492357_48785279	48645154	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	278	0.0036	28	c.-80 others(47): Show c.-80-10665_-80-10664insGATATATATATATATATATATATATA TA	FRYL	ENSG00000075539.15	transcript	ENST00000358350.9	protein_coding	3/63			chr4	TogoVar
FRY_chr13_32026774_32304125	32268505	A A	AAAAAAAA others(21): Show AAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0009 a0009	a0009c0035 a0009c0035	a0009c0035t0003 a0009c0035t0003	a0009c0035t0003g0105 a0009c0035t0003g0105	1	163	0.0061	28	c.813 others(47): Show c.8136+1147_8136+1148insAAAAAATATATATATATATATATATA TA	FRY	ENSG00000073910.23	transcript	ENST00000542859.6	protein_coding	55/60		INFO_REALIGN_3_PRIME	chr13	TogoVar
FSD1L_chr9_105443034_105557433	105481141	C C	CTGTGTGT others(21): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0191 a0001c0001t0009g0191	1	155	0.0065	28	c.464 others(45): Show c.464+1776_464+1803dupTGTGTGTGTGTGTGTGTGTGTGTGTGTG	FSD1L	ENSG00000106701.13	transcript	ENST00000481272.6	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
FSD1L_chr9_105443034_105557433	105533416	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03130.hp2 HG02970.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0005 a0001c0001t0007	a0001c0001t0005g0178 a0001c0001t0007g0203 a0001c0001t0005g0178 a0001c0001t0007g0203	2	8	0.2500	28	c.102 others(47): Show c.1026-1053_1026-1052insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	FSD1L	ENSG00000106701.13	transcript	ENST00000481272.6	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
FSHR_chr2_48957157_49159515	49021863	C C	CTCTCTCT others(21): Show CTCTCTCTCTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA18978.hp2 HG02015.hp1 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0181 a0001c0001t0002g0032 a0001c0001t0001g0181 a0001c0001t0002g0032	2	167	0.0120	28	c.225 others(45): Show c.225-1704_225-1703insTATATATATATATATATATAGAGAGAGA	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	2/9			chr2	TogoVar

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