Joint Open Genome and Omics Platform (JoGo)

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Snpeff genename

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Snpeff haplotype class

Snpeff annotation impact

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
VAV2_chr9_133756894_133997324	133827437	CTGAGTGG others(192): Show CTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACT GAGTGGGGGCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGA GCACGGGCATCGCCAGCTACCGCTGCGCCCACTGGGGCTGACCACTGAGC ACGGGCATCGCCAGCTACTGCTGTGCCCACTGAGGCTGACCACTGAGTGG	C C	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0143 a0002c0001t0001g0143	1	172	0.0058	-199	c.449 others(17): Show c.449+6636_449+6834del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133827629	CTGAGTGG others(192): Show CTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACT GAGCACGGGCATCGCCAGCTACCGCTGCGCCCACTGGGGCTGACCACTGA GCACGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGC ACGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGG	C C	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0004	a0002c0001t0004g0084 a0002c0001t0004g0084	1	184	0.0054	-199	c.449 others(17): Show c.449+6444_449+6642del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133828205	CTGAGTGG others(192): Show CTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACT GAGCACGGGCATCGCCAGCTACCGCTGCGCCCACTGGGGCTGACCACTGA GTGGGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGC ACGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGG	C C	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0187 a0002c0001t0002g0187	1	157	0.0064	-199	c.449 others(17): Show c.449+5868_449+6066del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VPS53_chr17_503668_719839	618201	GCCACCAC others(192): Show GCCACCACGCCCCACTAATATTTCCCGGGTAGCTGGGACTACAGGCGTGC ACCACCACGCCTGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGTGCG CCACCACGCCCCACTAATATTTCCTGGGTAGCTGGGACTACAGGGGTGCA CCACCACGCCCCACTAATATTTCCCGGGTAGCTGGGACTACAGGCGTGCA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(38): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00621.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01167.hp2 HG01168.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01361.hp1 HG01496.hp1 HG01978.hp1 HG02135.hp1 HG02738.hp1 HG02886.hp1 HG04204.hp2 NA18906.hp2 NA18940.hp1 NA18944.hp1 NA18946.hp2 NA18948.hp2 NA18959.hp2 NA18960.hp1 NA18962.hp2 NA18967.hp1 NA18973.hp1 NA18977.hp2 NA18979.hp1 NA19007.hp1 NA19009.hp1 NA19065.hp1 NA19070.hp1 NA19079.hp1 NA19084.hp1 NA19090.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 others(22): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0002t0010 a0001c0002t0013 a0001c0002t0014 a0001c0002t0021 a0001c0002t0023 a0001c0002t0025 a0001c0002t0026 a0001c0002t0027 a0001c0002t0028 a0001c0002t0029 a0001c0002t0045 a0001c0002t0052 a0001c0002t0058 a0001c0002t0061 a0001c0002t0069 a0001c0002t0072 a0001c0002t0073 a0001c0002t0076 a0001c0002t0079 a0001c0002t0080 a0002c0003t0027	a0001c0002t0001g0045 a0001c0002t0001g0056 a0001c0002t0001g0066 others(38): Show a0001c0002t0001g0045 a0001c0002t0001g0056 a0001c0002t0001g0066 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0082 a0001c0002t0001g0090 a0001c0002t0003g0053 a0001c0002t0003g0054 a0001c0002t0003g0072 a0001c0002t0005g0061 a0001c0002t0005g0065 a0001c0002t0007g0058 a0001c0002t0007g0062 a0001c0002t0007g0063 a0001c0002t0007g0081 a0001c0002t0010g0057 a0001c0002t0013g0078 a0001c0002t0013g0083 a0001c0002t0014g0074 a0001c0002t0014g0077 a0001c0002t0021g0087 a0001c0002t0023g0085 a0001c0002t0025g0076 a0001c0002t0026g0073 a0001c0002t0026g0088 a0001c0002t0027g0070 a0001c0002t0028g0075 a0001c0002t0029g0059 a0001c0002t0029g0060 a0001c0002t0045g0064 a0001c0002t0052g0089 a0001c0002t0058g0084 a0001c0002t0061g0052 a0001c0002t0069g0071 a0001c0002t0072g0051 a0001c0002t0073g0050 a0001c0002t0076g0086 a0001c0002t0079g0069 a0001c0002t0080g0067 a0002c0003t0027g0068	41	230	0.1783	-199	c.111 others(19): Show c.1116+5133_1116+5331del	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	11/21			chr17	TogoVar
ZFAND2A_chr7_1147907_1165196	1159456	TCCCAGCA others(192): Show TCCCAGCAGACAGGCCGGACCCCCAGCAGCCAGACCCCGGCAGGCCCGGT CCCCAGCAGACAGCCGGACCCCCAACAGCCAGACCCCGGCAGGCCCGGTC CCCAGCAGACAGGCCGGACCCCCAACAGCCAGACCCCGGCAGGCCCGGTC CCCAGCAGACAGGCCGGACCCCCAGCAGCCAGACCCCGGCAGGCCCGGTC	T T	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA19085.hp1 NA18978.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	2	429	0.0047	-199	c.-46 others(15): Show c.-46+309_-46+507del	ZFAND2A	ENSG00000178381.12	transcript	ENST00000316495.8	protein_coding	1/4			chr7	TogoVar
ZFPM1_chr16_88448280_88542031	88460951	GGCGGGGC others(192): Show GGCGGGGCGGGAGGCCTGGTGAGGACCGAGGGGAGGGGCGGGAGGCCTGG TGAGGACCGAGGGGTGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGA GGCCCTGGTGAGGACCCAGGGGCAGAAGGTCTGGTGAGGACCAAGGGGCA GGAGGCCCTGGTGAGGACCCAGGGATGGGGCGGGAGACCTGGTGAGGACC	G G	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0009 a0005c0007t0009	a0005c0007t0009g0286 a0005c0007t0009g0286	1	316	0.0032	-199	c.40+ others(15): Show c.40+7275_40+7473del	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZIM2_chr19_56769547_56845726	56772631	TAAAAAAA others(192): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAT TTGCCAGGCATGGTGACGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCATGAACCCGGAAGGCGGAGCTTGCAGTGAGCTGAG ATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGTGACACTCCATCTGAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02809.hp1 HG02970.hp1 others(4): Show HG02257.hp1 HG02809.hp1 HG02970.hp1 HG02970.hp2 HG06807.hp1 NA19043.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0097 others(4): Show a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0248 a0001c0001t0003g0258	7	33	0.2121	-199	c.18 others(11): Show c.1858_*2056del	ZIM2	ENSG00000269699.7	transcript	ENST00000629319.3	protein_coding		1915		chr19	TogoVar
ZNF516_chr18_76352682_76500242	76394568	CGGGTGGT others(192): Show CGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGG	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0004 a0004	a0004c0017 a0004c0017	a0004c0017t0069 a0004c0017t0069	a0004c0017t0069g0305 a0004c0017t0069g0305	1	342	0.0029	-199	c.181 others(21): Show c.1811-14464_1811-14266del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF554_chr19_2814868_2841735	2818350	CAAGGGTG others(192): Show CAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGATAACTAAGGTCAGAG CAGGTGACAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGATAACTAAG GTCAGAGCAGGTGACAAGGATGACTAAGGTCAGAGCAGGTGACCAAGGAT GACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02015.hp2 HG02129.hp2 others(28): Show HG01109.hp1 HG02015.hp2 HG02129.hp2 HG02572.hp1 HG02723.hp1 HG02818.hp2 HG02886.hp1 HG03041.hp1 HG03098.hp2 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03540.hp2 NA18906.hp2 NA18941.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18951.hp2 NA18966.hp1 NA18967.hp2 NA18969.hp1 NA18988.hp2 NA18999.hp1 NA19004.hp1 NA19058.hp1 NA19064.hp2 NA19065.hp1 NA19076.hp2 NA19079.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0004 a0001c0006 a0001c0007 others(3): Show a0001c0004 a0001c0006 a0001c0007 a0001c0012 a0002c0005 a0009c0018	a0001c0004t0003 a0001c0004t0017 a0001c0006t0006 others(10): Show a0001c0004t0003 a0001c0004t0017 a0001c0006t0006 a0001c0006t0008 a0001c0006t0016 a0001c0006t0026 a0001c0006t0050 a0001c0007t0010 a0001c0007t0022 a0001c0012t0024 a0002c0005t0004 a0002c0005t0045 a0009c0018t0049	a0001c0004t0003g0004 a0001c0004t0003g0052 a0001c0004t0003g0077 others(22): Show a0001c0004t0003g0004 a0001c0004t0003g0052 a0001c0004t0003g0077 a0001c0004t0003g0167 a0001c0004t0003g0168 a0001c0004t0017g0141 a0001c0006t0006g0006 a0001c0006t0006g0042 a0001c0006t0006g0043 a0001c0006t0006g0170 a0001c0006t0008g0173 a0001c0006t0008g0183 a0001c0006t0016g0179 a0001c0006t0026g0043 a0001c0006t0050g0042 a0001c0007t0010g0019 a0001c0007t0010g0181 a0001c0007t0022g0180 a0001c0007t0022g0182 a0001c0012t0024g0138 a0002c0005t0004g0001 a0002c0005t0004g0002 a0002c0005t0004g0029 a0002c0005t0045g0177 a0009c0018t0049g0178	31	408	0.0760	-199	c.-17 others(11): Show c.-1721_-1523del	ZNF554	ENSG00000172006.12	transcript	ENST00000317243.10	protein_coding		1517		chr19	TogoVar
ABAT_chr16_8669617_8789570	8732931	ACCCCCCT others(191): Show ACCCCCCTACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA TGCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCAGGGGGCTGAT CCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACC	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0005 a0002c0015t0005	a0002c0015t0005g0305 a0002c0015t0005g0305	1	360	0.0028	-198	c.-41 others(17): Show c.-41-2761_-41-2564del	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ADAM8_chr10_133257423_133281868	133264635	TCTGCTGC others(191): Show TCTGCTGCAGCCTCTGCCCCATCTACTGCCACGCCTGTTCCTGCTGCAGC CTCAGCCCCATCTACTGCCACGCCTGTTCCTGCTGCAGCCTCTGCCCCAT CTACCTCCACGCCCGGCTCTTGCTGCAGCCTCTGCCGCATCTACCTCCAT GCCTGGTTCCTGCTGCAGCCTCTGCCCCACCTACCTCCACGCCCGGCTC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03209.hp2 HG02615.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0120 a0001c0002t0002g0142 a0001c0002t0002g0120 a0001c0002t0002g0142	2	384	0.0052	-198	c.232 others(18): Show c.2320-1068_2320-871del	ADAM8	ENSG00000151651.16	transcript	ENST00000445355.8	protein_coding	21/22			chr10	TogoVar
ADAMTS17_chr15_99966437_100346975	100066769	ACTTGAAA others(191): Show ACTTGAAATACACTTTTCCGCTGTCTTCCCTTATGATATTGAGAGGGCAG CCATCATTCTAAGTGTCCTTCCTTTCTGTCTCAGCAATATTCCTTCAACG CTTGAAATACACTTTTCCGCTGTCTTCCCTTATGATATTGAGAGGGCAGC CATCCTTCTAAGTGTCCTTCCTTTCTGTCTCAGCAATATTCCTTCAACG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(182): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18943.hp2 NA18955.hp1 NA18955.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18975.hp1 NA18975.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp1 NA18988.hp2 NA18993.hp2 NA19000.hp1 NA19000.hp2 NA19009.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19081.hp1 NA19081.hp2 NA19088.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0013	a0001c0002 a0001c0005 a0001c0007 others(66): Show a0001c0002 a0001c0005 a0001c0007 a0001c0010 a0001c0014 a0001c0017 a0001c0018 a0001c0021 a0001c0025 a0001c0033 a0001c0034 a0001c0040 a0001c0046 a0001c0071 a0001c0073 a0002c0001 a0002c0004 a0002c0011 a0002c0022 a0002c0029 a0002c0050 a0002c0051 a0002c0054 a0002c0056 a0002c0061 a0002c0063 a0002c0064 a0002c0065 a0002c0067 a0002c0069 a0002c0070 a0002c0072 a0002c0077 a0003c0006 a0003c0009 a0003c0012 a0003c0013 a0003c0015 a0003c0019 a0003c0041 a0003c0047 a0004c0003 a0004c0008 a0004c0028 a0004c0030 a0004c0031 a0004c0053 a0004c0068 a0004c0075 a0004c0076 a0005c0024 a0005c0026 a0005c0032 a0005c0035 a0005c0036 a0005c0039 a0005c0044 a0005c0074 a0006c0016 a0006c0048 a0006c0055 a0006c0058 a0006c0059 a0007c0023 a0007c0060 a0008c0057 a0009c0027 a0010c0037 a0013c0043	a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 others(132): Show a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0009 a0001c0002t0011 a0001c0002t0012 a0001c0002t0019 a0001c0002t0065 a0001c0005t0002 a0001c0005t0005 a0001c0005t0009 a0001c0005t0011 a0001c0005t0072 a0001c0007t0005 a0001c0007t0006 a0001c0007t0007 a0001c0007t0010 a0001c0007t0018 a0001c0010t0005 a0001c0010t0007 a0001c0010t0009 a0001c0010t0011 a0001c0010t0028 a0001c0014t0006 a0001c0014t0007 a0001c0014t0030 a0001c0014t0060 a0001c0017t0002 a0001c0017t0037 a0001c0018t0010 a0001c0018t0016 a0001c0018t0070 a0001c0021t0004 a0001c0021t0006 a0001c0021t0016 a0001c0025t0008 a0001c0033t0015 a0001c0034t0059 a0001c0040t0040 a0001c0046t0004 a0001c0071t0004 a0001c0073t0002 a0002c0001t0002 a0002c0001t0005 a0002c0001t0007 a0002c0001t0016 a0002c0001t0031 a0002c0001t0033 a0002c0001t0036 a0002c0001t0054 a0002c0001t0056 a0002c0001t0073 a0002c0004t0002 a0002c0004t0005 a0002c0004t0006 a0002c0004t0007 a0002c0004t0019 a0002c0004t0032 a0002c0004t0074 a0002c0011t0006 a0002c0011t0022 a0002c0011t0039 a0002c0011t0042 a0002c0011t0063 a0002c0011t0064 a0002c0022t0004 a0002c0029t0002 a0002c0050t0015 a0002c0051t0069 a0002c0054t0014 a0002c0056t0022 a0002c0061t0011 a0002c0063t0004 a0002c0064t0008 a0002c0065t0006 a0002c0067t0013 a0002c0069t0067 a0002c0070t0025 a0002c0072t0050 a0002c0077t0007 a0003c0006t0001 a0003c0006t0003 a0003c0006t0021 a0003c0006t0045 a0003c0009t0001 a0003c0009t0003 a0003c0012t0001 a0003c0012t0003 a0003c0012t0044 a0003c0013t0001 a0003c0013t0003 a0003c0013t0043 a0003c0013t0048 a0003c0015t0001 a0003c0015t0003 a0003c0015t0046 a0003c0019t0001 a0003c0041t0001 a0003c0047t0041 a0004c0003t0001 a0004c0003t0003 a0004c0003t0027 a0004c0008t0001 a0004c0008t0003 a0004c0028t0001 a0004c0030t0001 a0004c0031t0001 a0004c0031t0003 a0004c0053t0001 a0004c0068t0001 a0004c0075t0001 a0004c0076t0001 a0005c0024t0002 a0005c0026t0005 a0005c0026t0057 a0005c0032t0053 a0005c0035t0010 a0005c0036t0002 a0005c0039t0005 a0005c0044t0013 a0005c0074t0071 a0006c0016t0002 a0006c0016t0012 a0006c0048t0015 a0006c0055t0029 a0006c0058t0014 a0006c0059t0014 a0007c0023t0001 a0007c0023t0026 a0007c0060t0003 a0008c0057t0004 a0009c0027t0001 a0010c0037t0001 a0013c0043t0003	a0001c0002t0002g0063 a0001c0002t0004g0148 a0001c0002t0005g0081 others(182): Show a0001c0002t0002g0063 a0001c0002t0004g0148 a0001c0002t0005g0081 a0001c0002t0005g0158 a0001c0002t0007g0180 a0001c0002t0009g0028 a0001c0002t0011g0160 a0001c0002t0012g0106 a0001c0002t0019g0026 a0001c0002t0065g0071 a0001c0005t0002g0075 a0001c0005t0002g0139 a0001c0005t0005g0104 a0001c0005t0009g0030 a0001c0005t0011g0179 a0001c0005t0072g0133 a0001c0007t0005g0137 a0001c0007t0006g0062 a0001c0007t0006g0202 a0001c0007t0007g0066 a0001c0007t0010g0011 a0001c0007t0018g0045 a0001c0010t0005g0095 a0001c0010t0007g0130 a0001c0010t0009g0022 a0001c0010t0011g0117 a0001c0010t0028g0037 a0001c0014t0006g0122 a0001c0014t0007g0105 a0001c0014t0030g0001 a0001c0014t0060g0166 a0001c0017t0002g0138 a0001c0017t0002g0156 a0001c0017t0002g0173 a0001c0017t0037g0047 a0001c0018t0010g0006 a0001c0018t0010g0007 a0001c0018t0016g0223 a0001c0018t0070g0119 a0001c0021t0004g0219 a0001c0021t0006g0171 a0001c0021t0016g0113 a0001c0025t0008g0077 a0001c0025t0008g0208 a0001c0033t0015g0178 a0001c0034t0059g0157 a0001c0040t0040g0165 a0001c0046t0004g0209 a0001c0071t0004g0182 a0001c0073t0002g0188 a0002c0001t0002g0058 a0002c0001t0002g0059 a0002c0001t0002g0144 a0002c0001t0002g0145 a0002c0001t0002g0174 a0002c0001t0005g0108 a0002c0001t0005g0121 a0002c0001t0005g0154 a0002c0001t0007g0094 a0002c0001t0016g0205 a0002c0001t0031g0029 a0002c0001t0033g0010 a0002c0001t0036g0003 a0002c0001t0054g0087 a0002c0001t0056g0146 a0002c0001t0073g0227 a0002c0004t0002g0125 a0002c0004t0002g0167 a0002c0004t0005g0151 a0002c0004t0006g0099 a0002c0004t0006g0203 a0002c0004t0007g0204 a0002c0004t0019g0048 a0002c0004t0032g0039 a0002c0004t0074g0228 a0002c0011t0006g0054 a0002c0011t0022g0103 a0002c0011t0039g0013 a0002c0011t0042g0111 a0002c0011t0063g0053 a0002c0011t0064g0226 a0002c0022t0004g0097 a0002c0022t0004g0181 a0002c0029t0002g0067 a0002c0050t0015g0090 a0002c0051t0069g0076 a0002c0054t0014g0002 a0002c0056t0022g0073 a0002c0061t0011g0091 a0002c0063t0004g0150 a0002c0064t0008g0127 a0002c0065t0006g0176 a0002c0067t0013g0032 a0002c0069t0067g0164 a0002c0070t0025g0162 a0002c0072t0050g0183 a0002c0077t0007g0184 a0003c0006t0001g0056 a0003c0006t0001g0170 a0003c0006t0003g0014 a0003c0006t0003g0027 a0003c0006t0003g0036 a0003c0006t0021g0088 a0003c0006t0021g0089 a0003c0006t0045g0115 a0003c0009t0001g0064 a0003c0009t0001g0110 a0003c0009t0001g0126 a0003c0009t0001g0199 a0003c0009t0001g0218 a0003c0009t0003g0043 a0003c0009t0003g0052 a0003c0012t0001g0123 a0003c0012t0001g0189 a0003c0012t0001g0224 a0003c0012t0003g0038 a0003c0012t0044g0078 a0003c0013t0001g0131 a0003c0013t0001g0225 a0003c0013t0003g0049 a0003c0013t0043g0118 a0003c0013t0048g0143 a0003c0015t0001g0085 a0003c0015t0001g0159 a0003c0015t0003g0041 a0003c0015t0003g0044 a0003c0015t0046g0065 a0003c0019t0001g0092 a0003c0019t0001g0152 a0003c0019t0001g0217 a0003c0041t0001g0102 a0003c0047t0041g0168 a0004c0003t0001g0068 a0004c0003t0001g0069 a0004c0003t0001g0084 a0004c0003t0001g0093 a0004c0003t0001g0098 a0004c0003t0001g0172 a0004c0003t0001g0190 a0004c0003t0001g0197 a0004c0003t0003g0012 a0004c0003t0027g0034 a0004c0008t0001g0061 a0004c0008t0001g0100 a0004c0008t0001g0114 a0004c0008t0001g0142 a0004c0008t0001g0163 a0004c0008t0003g0024 a0004c0008t0003g0035 a0004c0008t0003g0042 a0004c0008t0003g0050 a0004c0028t0001g0147 a0004c0030t0001g0214 a0004c0031t0001g0070 a0004c0031t0003g0008 a0004c0053t0001g0080 a0004c0068t0001g0120 a0004c0075t0001g0186 a0004c0076t0001g0185 a0005c0024t0002g0135 a0005c0024t0002g0153 a0005c0026t0005g0195 a0005c0026t0057g0109 a0005c0032t0053g0060 a0005c0035t0010g0021 a0005c0036t0002g0140 a0005c0039t0005g0132 a0005c0044t0013g0005 a0005c0074t0071g0187 a0006c0016t0002g0082 a0006c0016t0002g0194 a0006c0016t0012g0201 a0006c0048t0015g0210 a0006c0055t0029g0033 a0006c0058t0014g0016 a0006c0059t0014g0025 a0007c0023t0001g0072 a0007c0023t0001g0206 a0007c0023t0026g0031 a0007c0060t0003g0009 a0008c0057t0004g0149 a0009c0027t0001g0196 a0009c0027t0001g0216 a0010c0037t0001g0116 a0013c0043t0003g0023	185	226	0.8186	-198	c.213 others(21): Show c.2138-12913_2138-12716del	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	15/21			chr15	TogoVar
ADAMTS19_chr5_129455298_129743683	129550054	ATATGTAT others(191): Show ATATGTATGTATCTAGATATACATATACATGTATCTGTATATGTATGTAT CTAGATATACATATACATGTATCTGTATATGTATGTATCTAGATATACAT ATACATGTATCTGTATATGTATGTATCTAGATATACATATACATGTATCT GTATATGTATGTATCTAGATATACATATACATGTATCTGTATATGTATG	A A	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0112 a0002c0004t0001g0112	1	220	0.0045	-198	c.132 others(19): Show c.1329-1806_1329-1609del	ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
AMFR_chr16_56356452_56430545	56397703	AATCATTT others(191): Show AATCATTTATAATATATAAATGTATCATTTATAATATATAAATGTATCAT TTATAATATATAAATGTATCATTTATAATATATAAATGTATCATTTATAA TATATAAATGTATCATTTATAATATATAAATGTATCATTTATAATATATA AATGTATCATTTATAATATATAAATGTATCATTTATAATATATAAATGT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01109.hp1 HG01109.hp2 others(18): Show HG00408.hp2 HG01109.hp1 HG01109.hp2 HG01258.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG02145.hp1 HG02723.hp2 HG02896.hp2 HG03579.hp2 NA18906.hp1 NA18964.hp2 NA18965.hp2 NA18980.hp1 NA18999.hp2 NA19012.hp2 NA19057.hp2 NA19066.hp1 NA20752.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0019 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0019 a0001c0001t0038 a0001c0001t0050	a0001c0001t0001g0286 a0001c0001t0003g0239 a0001c0001t0003g0240 others(18): Show a0001c0001t0001g0286 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0242 a0001c0001t0003g0244 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0254 a0001c0001t0003g0257 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0263 a0001c0001t0003g0266 a0001c0001t0003g0269 a0001c0001t0003g0271 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0019g0241 a0001c0001t0019g0246 a0001c0001t0038g0140 a0001c0001t0050g0339	21	254	0.0827	-198	c.108 others(19): Show c.1085+3832_1085+4029del	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	8/13			chr16	TogoVar
ANO3_chr11_26327130_26668289	26529243	TAATATAT others(191): Show TAATATATATTATATAATATATATTATATATTATATAATATATAATATAT ATTATATAATATATATTATATAATATATAATAGTATATAATATATAATAA TATATTATATAATAATATATTATATAATAATTATATATTATATATTATTA TATATTATATAATAATATATAATAATATATTATATTATTATATAATATC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0189 a0001c0004t0003g0189	1	188	0.0053	-198	c.738 others(17): Show c.738-1960_738-1763del	ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP3D1_chr19_2095988_2156566	2128442	GCACTGCA others(191): Show GCACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACC CCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCG GCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCG CCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGA	G G	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18954.hp2 HG02074.hp1 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0178 a0001c0001t0001g0163 a0001c0001t0001g0178	2	299	0.0067	-198	c.806 others(15): Show c.806+450_806+647del	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128718	GACACTGC others(191): Show GACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACC CCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCC GGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCC GCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCA	G G	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	401	0.0025	-198	c.806 others(15): Show c.806+174_806+371del	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
APOBEC3F_chr22_39035864_39060972	39050430	TGGGGAGG others(191): Show TGGGGAGGGAGCCGTCTGTGTGCTGGGCAGGCCTGGCCTACAGCAGTGCT GGCCTCGGAAACACCCAGGACTCAGGATGGAAGCGCGAGTGTTCCCAGTC CCCACACGCTAAAAAGGCGACAAGAACTTGTGGAAGAAATTTTAGTGTCT GCATTAGCTCAATTATCTCACATAGGATTTCAACATATACTTAATATAA	T T	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0041 a0002c0002t0041	a0002c0002t0041g0154 a0002c0002t0041g0154	1	420	0.0024	-198	c.723 others(16): Show c.723+850_723+1047del	APOBEC3F	ENSG00000128394.17	transcript	ENST00000308521.10	protein_coding	5/6			chr22	TogoVar
ATP11A_chr13_112685038_112892168	112766794	GGGGGCGT others(191): Show GGGGGCGTTGGGGGCCACTGTGGGAAGGTGGGGAGATGTGGGGGTGTTGG GGGCCCCTGTGGGAAGGTGGGGAGGGTGTGGGAGTGCTGGGAGCCCCTGT GGAAAGGTGGGGAGATGTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGG GAGGGTGTGGGAGTGCTGGGAGCCCCCGTGGAAAGGTGGGGAGGATGTA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02622.hp2 HG02886.hp2 others(3): Show HG01109.hp1 HG02622.hp2 HG02886.hp2 HG03098.hp1 NA18906.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0009 others(1): Show a0001c0002 a0001c0004 a0001c0009 a0001c0044	a0001c0002t0001 a0001c0002t0013 a0001c0004t0052 others(2): Show a0001c0002t0001 a0001c0002t0013 a0001c0004t0052 a0001c0009t0003 a0001c0044t0047	a0001c0002t0001g0032 a0001c0002t0013g0112 a0001c0002t0013g0211 others(3): Show a0001c0002t0001g0032 a0001c0002t0013g0112 a0001c0002t0013g0211 a0001c0004t0052g0033 a0001c0009t0003g0218 a0001c0044t0047g0134	6	252	0.0238	-198	c.40- others(17): Show c.40-18336_40-18139del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112767118	CTGGGAGC others(191): Show CTGGGAGCCCCCGTGGAAAGGTGGGGAGGATGTAGGGGTATCGGGGGCCC CTGTAGGAAGGTAGGGAGGATGTGGGGGTGTTGGGGGCCCCTGTGGGAAG GTGGGGAGATGTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGATG TGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGGATGTGGGGGCGT	C C	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0090 a0002c0003t0002g0090	1	163	0.0061	-198	c.40- others(17): Show c.40-18012_40-17815del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112841080	ACCCAGGC others(191): Show ACCCAGGCACAAACCAGCCGCCTGGCAGAGTGCCACGTGGCTTCGCGGAC CAGGGATGCTTCAGGTGCAGAGGGAGCTCTGTGTGTCGGGAGCACCTGCG CCCAGGCACAAACCAGCCGCCTGGCAGAGTGCCACGTGGCTTCGCGGACC ACGGATGCTTCAGGTGCAGAGGGGGCTCTGTGTGTCGGGAGCACCTGCG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0009 a0009	a0009c0038 a0009c0038	a0009c0038t0071 a0009c0038t0071	a0009c0038t0071g0044 a0009c0038t0071g0044	1	252	0.0040	-198	c.170 others(18): Show c.1706-1129_1706-932del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	16/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
BAG1_chr9_33247471_33269708	33251886	GAGAAGGG others(191): Show GAGAAGGGGTGCTCTCTCCCCTTCTCACGGGAGAAGAAGGGGTGCTCTCT CCCCTTCTCACGGGAGAAGAAGGGGTGCTCTCTCCCCTTCTCACGGGAGA AGAAGGGGTGCTCTCTCCCCTTCTCACGGGAGAAGAAGGGGTGCTCTCTC CCCTTCTCACGGGAGAAGAAGGGGTGCTCTCTCCCCTTCTCACGGGAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02129.hp2 HG02572.hp1 others(19): Show HG02109.hp2 HG02129.hp2 HG02572.hp1 HG02615.hp1 HG02723.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp2 HG02976.hp2 HG03130.hp1 HG03195.hp2 HG03486.hp2 HG03540.hp1 HG03579.hp2 HG03927.hp1 HG04204.hp1 NA18522.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0004 a0001c0001t0005 a0001c0001t0014 others(3): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0014 a0001c0001t0030 a0001c0001t0032 a0001c0005t0031	a0001c0001t0004g0004 a0001c0001t0004g0017 a0001c0001t0005g0006 others(7): Show a0001c0001t0004g0004 a0001c0001t0004g0017 a0001c0001t0005g0006 a0001c0001t0005g0019 a0001c0001t0005g0064 a0001c0001t0005g0066 a0001c0001t0014g0081 a0001c0001t0030g0068 a0001c0001t0032g0067 a0001c0005t0031g0041	22	46	0.4783	-198	c.31 others(11): Show c.3135_*3332del	BAG1	ENSG00000107262.26	transcript	ENST00000634734.3	protein_coding		584		chr9	TogoVar
BRD9_chr5_858741_897801	897348	TTCAGTGT others(191): Show TTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAG CCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGG GCTCTGGCAGGCCAAGCCCAGGGCTTCATGCAGTCAGTGTGTGGGGAAAC AGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG02080.hp1 NA18951.hp2 others(17): Show HG00609.hp2 HG02080.hp1 NA18951.hp2 NA18954.hp1 NA18959.hp1 NA18962.hp2 NA18963.hp2 NA18968.hp1 NA18994.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp1 NA19007.hp2 NA19010.hp1 NA19012.hp2 NA19054.hp1 NA19060.hp2 NA19064.hp2 NA19077.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0122 a0001c0001t0002g0003 a0001c0001t0002g0004 others(2): Show a0001c0001t0001g0122 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0058 a0001c0001t0002g0087	20	307	0.0651	-198	c.-48 others(11): Show c.-4889_-4692del	BRD9	ENSG00000028310.18	transcript	ENST00000467963.6	protein_coding		4548		chr5	TogoVar
CCDC6_chr10_59783747_59911556	59882116	CGGGGGGA others(191): Show CGGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGC GGGATGAAGGAATATGAAATGCCGGGGGGAGAAGGAAAGGTAAAGCCGCG GGGAGTAAGGAAAGGAAAGTCCGGGGTAGTAAGGAAAGGTAAAGCCGGGG GGATGAATGGAAAGGTAATGCTCGGCGGGAGAATGGAAAGGAAAGCCGG	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01255.hp2 HG01358.hp2 HG01081.hp1 HG01255.hp2 HG01358.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0008 a0002c0002t0001 a0002c0002t0008	a0002c0002t0001g0278 a0002c0002t0001g0280 a0002c0002t0008g0277 a0002c0002t0001g0278 a0002c0002t0001g0280 a0002c0002t0008g0277	3	276	0.0109	-198	c.303 others(19): Show c.303+23808_303+24005del	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCNF_chr16_2424447_2463854	2442500	TATTATTA others(191): Show TATTATTATATATAATATATAATATTATATAATATAATATTATTATATAT AATATATAATATTATATAATATAATATTATTATATATAATATATAATATT ATATAATATAATATTATATATAATATATAATATTATATAATATAATATTA TTATATATAATATATAATATTATATATAATATCATATTATTATATAATA	T T	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	274	0.0036	-198	c.778 others(16): Show c.778-1143_778-946del	CCNF	ENSG00000162063.13	transcript	ENST00000397066.9	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
CD38_chr4_15773328_15858232	15791483	GGGTCAGC others(191): Show GGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGG GATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGA	G G	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0078 a0001c0001t0004g0078	1	342	0.0029	-198	c.233 others(19): Show c.233+12837_233+13034del	CD38	ENSG00000004468.13	transcript	ENST00000226279.8	protein_coding	1/7			chr4	TogoVar
CD48_chr1_160673746_160716822	160714275	CGTTCCTG others(191): Show CGTTCCTGCCACCTGCAGCTCAGCAAATGAGGGCACCTCACAGCTCTTGT TCAGTCCCACTGCCTGCAGCTCAGCAAATGGGGGCATGTCACAGCTCTTA TTTAGTCTTGCTGCCTGCAGTTCAGTGAATGGGGGTGTGTCACAGCTCTC ACTTGGTCCCAGTGCCCACAGCTCAGCAAATACGGGTATGTTACAGCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp2 others(37): Show HG00099.hp1 HG00140.hp1 HG00323.hp2 HG00609.hp1 HG00639.hp1 HG00733.hp2 HG01081.hp1 HG01175.hp2 HG01192.hp2 HG01257.hp2 HG01361.hp2 HG01496.hp2 HG01884.hp1 HG01928.hp1 HG01943.hp2 HG01952.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02071.hp2 HG02683.hp1 HG03225.hp2 HG03239.hp2 HG03669.hp2 HG03942.hp1 HG04115.hp1 NA18949.hp1 NA18959.hp2 NA18962.hp1 NA18972.hp2 NA18974.hp1 NA18981.hp2 NA18983.hp2 NA18991.hp1 NA18997.hp2 NA19002.hp2 NA19003.hp1 NA19066.hp1 NA19087.hp1 NA20129.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0007c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0002c0003t0001 a0007c0010t0001	a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0015 others(37): Show a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0025 a0001c0001t0001g0100 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0119 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0152 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0178 a0001c0001t0001g0184 a0001c0001t0001g0210 a0001c0001t0001g0227 a0001c0001t0001g0288 a0001c0001t0001g0304 a0001c0001t0001g0307 a0001c0001t0002g0003 a0001c0001t0002g0037 a0001c0001t0002g0204 a0001c0001t0002g0211 a0001c0001t0002g0224 a0001c0001t0002g0240 a0001c0001t0002g0305 a0001c0001t0002g0308 a0001c0001t0003g0105 a0001c0002t0001g0136 a0002c0003t0001g0096 a0007c0010t0001g0142	40	440	0.0909	-198	c.-27 others(11): Show c.-2710_-2513del	CD48	ENSG00000117091.10	transcript	ENST00000368046.8	protein_coding		2454		chr1	TogoVar
CDK12_chr17_39456486_39539544	39498943	CTTTCTTT others(191): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	257	0.0039	-198	c.242 others(19): Show c.2420-2305_2420-2108del	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP46_chr10_132803392_132947570	132820584	TGTGCTGT others(191): Show TGTGCTGTGTGAGCACTGATGTGTGCTGTGTGTGCTGATGTGTGCTGAGT GCTGATGTGTGCTGTGAGTGCTGATGTGTGCTGTGTGTGCACTGATGTGT GCTGTGTGTGCTGATGTGTGCTGTGTGTGCGCTGATGTGTGCTGTGTGTG CACTGATGTGTGCTGTGTGTGCTGATGTGTGCTGTGTGTGCGCTGATGC	T T	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0075 a0075	a0075c0098 a0075c0098	a0075c0098t0002 a0075c0098t0002	a0075c0098t0002g0023 a0075c0098t0002g0023	1	244	0.0041	-198	c.711 others(19): Show c.7118-5868_7118-5671del	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132914226	GCCCGAGG others(191): Show GCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCA GCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG CCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAG CCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGC	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0002 a0001c0029t0002	a0001c0029t0002g0009 a0001c0029t0002g0009	1	239	0.0042	-198	c.212 others(18): Show c.2121-1166_2121-969del	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132914391	GCCCGAGG others(191): Show GCCCGAGGCTGTGTCCAGCCACACTGCACCCCGCCCCGAGGCTGTGTCCA GCCACACTGCACCCCGCCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG CCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAG CCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGC	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02055.hp1 HG00642.hp1 HG02055.hp1	a0003 a0006 a0003 a0006	a0003c0007 a0006c0004 a0003c0007 a0006c0004	a0003c0007t0002 a0006c0004t0002 a0003c0007t0002 a0006c0004t0002	a0003c0007t0002g0056 a0006c0004t0002g0107 a0003c0007t0002g0056 a0006c0004t0002g0107	2	236	0.0085	-198	c.212 others(19): Show c.2121-1331_2121-1134del	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132914424	CCCCGAGG others(191): Show CCCCGAGGCTGTGTCCAGCCACACTGCACCCCGCCCCGAGGCTGTGTCCA GCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG CCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAG CCACACTGCACCCCGCCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG	C C	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18983.hp1 NA18971.hp1 NA18983.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0002 a0005c0006t0001 a0001c0001t0002 a0005c0006t0001	a0001c0001t0002g0093 a0005c0006t0001g0129 a0001c0001t0002g0093 a0005c0006t0001g0129	2	142	0.0141	-198	c.212 others(19): Show c.2121-1364_2121-1167del	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
CNKSR3_chr6_154382515_154515685	154496315	GGCAACCA others(191): Show GGCAACCAGGACTTGAGGGGTCACAACCCTGGAAAGACATGAAAGTGAAT CCAACCTTCTCTCCCACATTTCCGTTTAAGGCTTTTCTGGTTCCACAGCA GCCCGCAGGAGAGGCCAGGCAGGAAGCAGCCAGGGCTCTGAGTACAGGAG AAGCACCATCTGATTGCTTTAATAAGAGCAAACAAGAGAATAAAGCCAT	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02027.hp1 HG02132.hp1 others(4): Show HG00558.hp1 HG02027.hp1 HG02132.hp1 HG02735.hp2 HG04228.hp1 NA18966.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0100 a0001c0002t0191 others(3): Show a0001c0001t0002 a0001c0001t0100 a0001c0002t0191 a0001c0003t0001 a0001c0003t0043 a0001c0003t0189	a0001c0001t0002g0072 a0001c0001t0002g0307 a0001c0001t0100g0293 others(4): Show a0001c0001t0002g0072 a0001c0001t0002g0307 a0001c0001t0100g0293 a0001c0002t0191g0071 a0001c0003t0001g0083 a0001c0003t0043g0073 a0001c0003t0189g0074	7	340	0.0206	-198	c.52+ others(17): Show c.52+13550_52+13747del	CNKSR3	ENSG00000153721.19	transcript	ENST00000607772.6	protein_coding	1/12			chr6	TogoVar
CNTN5_chr11_99015949_100363885	99042769	TTATTGAA others(191): Show TTATTGAATGAATGAATGAATGTGGATGAGCATAGACGCAGTCTGGGACA GGTGTTTAACGTACAGCTCCAGTAACTGAAGAATTCACGTTTTCATTGAT CTCTGTAGCATGCTACTTTAACTCCTAGGGACTGCAATCCTTCTCATACA TTTACATTTTAATTTAAATTTCTCAAGATCTATAGCTCTCTTTGTTGTC	T T	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0029 a0001c0001t0004g0029	1	66	0.0152	-198	c.-21 others(21): Show c.-210+21500_-210+21697del	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	1/24			chr11	TogoVar
CST7_chr20_24944269_24964928	24946175	AGAAATGG others(191): Show AGAAATGGGTAAATTCCTGGACACACACACCCTCCCAAGTCTAAACCAGG AAGAAGTCGAATCCCTGAATCGATCAATAACAAGTTCTGAAATTGAGGCA GTAATTAATAGCCTACCAACCAAAAAAAAGTCCAGGACCAGATGGATTCA CAGCTGAATTCTACCAGAGGTACAAAGAGGCGCTGCTACCATTCCTTCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02965.hp2 HG02572.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0012 a0001c0001t0010 a0001c0001t0012	a0001c0001t0010g0097 a0001c0001t0012g0098 a0001c0001t0010g0097 a0001c0001t0012g0098	2	348	0.0057	-198	c.-33 others(11): Show c.-3330_-3133del	CST7	ENSG00000077984.6	transcript	ENST00000480798.2	protein_coding		3093		chr20	TogoVar
DAPK1_chr9_87492867_87713634	87652072	TGAACCCG others(191): Show TGAACCCGGGTCCTGATTCTGTGTCCATCCCCCCGATCCTGGGTCCTGAT TCTGTGTCCATTCCCCCGATCCTGGGTCCTGATTCTGTGTCCTCCCACCT GATCCCAGGTCCTGATTCTGTGTCCATCCCCCCGATCCCGGGTCCTGATT CTGTGTCCTCCCACCTGATCCCAGGTCCTGATTCTGTGTCCATCCCCCC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01256.hp2 HG01358.hp2 others(6): Show HG01099.hp1 HG01256.hp2 HG01358.hp2 HG01496.hp2 HG01928.hp1 HG01975.hp1 HG03704.hp1 HG03704.hp2 HG04204.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0005 a0002c0003 a0001c0002 a0001c0005 a0002c0003	a0001c0002t0001 a0001c0002t0004 a0001c0005t0001 others(1): Show a0001c0002t0001 a0001c0002t0004 a0001c0005t0001 a0002c0003t0001	a0001c0002t0001g0018 a0001c0002t0004g0075 a0001c0005t0001g0065 others(6): Show a0001c0002t0001g0018 a0001c0002t0004g0075 a0001c0005t0001g0065 a0001c0005t0001g0131 a0002c0003t0001g0073 a0002c0003t0001g0103 a0002c0003t0001g0138 a0002c0003t0001g0146 a0002c0003t0001g0187	9	234	0.0385	-198	c.182 others(17): Show c.1824+351_1824+548del	DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	17/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
ELL2_chr5_95880098_95966851	95927400	TACACACA others(191): Show TACACACACGTGTGTATATAGACATACACACACACGTGTGTATATAGACA TACACACACACGTGTGTATATAGACATACACACACGTGTGTATATAGACA TACACACACGTGTGTATATAGACATACACACACGTGTGTATATAGACATA CACACACACGTGTGTATATAGACATACACACACACGTGTGTATATAGAC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02135.hp2 HG02572.hp1 others(4): Show HG00673.hp1 HG02135.hp2 HG02572.hp1 HG02723.hp1 HG03704.hp2 NA18950.hp1 NA19087.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0005 a0002c0002 a0006c0011 a0001c0005 a0002c0002 a0006c0011	a0001c0005t0008 a0002c0002t0001 a0006c0011t0008 a0001c0005t0008 a0002c0002t0001 a0006c0011t0008	a0001c0005t0008g0026 a0002c0002t0001g0118 a0002c0002t0001g0119 others(4): Show a0001c0005t0008g0026 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0124 a0002c0002t0001g0136 a0006c0011t0008g0024	7	183	0.0383	-198	c.196 others(17): Show c.196-8053_196-7856del	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95927476	TACACACA others(191): Show TACACACACGTGTGTATATAGACATACACACACGTGTGTATATAGACATA CACACACGTGTGTATATAGACATACACACACACGTGTGTATATAGACATA CACACACACGTGTGTATATAGACATACACACACACGTGTGTATATAGACA TACACACACACGTGTGTATATAGACATACACACACACGTGTGTATATAG	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02723.hp2 HG01109.hp1 HG02723.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0016 a0001c0003t0007g0017 a0001c0003t0007g0016 a0001c0003t0007g0017	2	243	0.0082	-198	c.196 others(17): Show c.196-8129_196-7932del	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
EML1_chr14_99788413_99947060	99927930	ATGGTGGT others(191): Show ATGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGATGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGAGGTGG	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0256 a0001c0003t0002g0256	1	263	0.0038	-198	c.190 others(19): Show c.1909+7062_1909+7259del	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
ERC1_chr12_986223_1500931	1085221	GTTGTTGT others(191): Show GTTGTTGTTGAAAGTGCTGCGATTACAGGCAATATGCCTATGCCTGGCCC GTTATTATTATTATTGTTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAA TATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGTTGAAAG TGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01109.hp1 HG01358.hp2 others(19): Show HG00639.hp2 HG01109.hp1 HG01358.hp2 HG01884.hp2 HG01952.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02257.hp2 HG02451.hp2 HG02559.hp1 HG02647.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG03139.hp1 HG03225.hp1 HG03516.hp1 NA19043.hp1 NA19240.hp2 NA20129.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0002c0006 others(1): Show a0001c0001 a0002c0002 a0002c0006 a0005c0010	a0001c0001t0007 a0001c0001t0043 a0001c0001t0047 others(12): Show a0001c0001t0007 a0001c0001t0043 a0001c0001t0047 a0002c0002t0009 a0002c0002t0010 a0002c0002t0011 a0002c0002t0037 a0002c0002t0039 a0002c0002t0057 a0002c0002t0058 a0002c0002t0074 a0002c0002t0080 a0002c0002t0087 a0002c0006t0041 a0005c0010t0059	a0001c0001t0007g0066 a0001c0001t0043g0156 a0001c0001t0047g0121 others(19): Show a0001c0001t0007g0066 a0001c0001t0043g0156 a0001c0001t0047g0121 a0002c0002t0009g0149 a0002c0002t0009g0152 a0002c0002t0010g0087 a0002c0002t0010g0089 a0002c0002t0010g0090 a0002c0002t0010g0091 a0002c0002t0011g0122 a0002c0002t0011g0124 a0002c0002t0011g0125 a0002c0002t0011g0128 a0002c0002t0037g0151 a0002c0002t0039g0104 a0002c0002t0057g0127 a0002c0002t0058g0123 a0002c0002t0074g0107 a0002c0002t0080g0106 a0002c0002t0087g0096 a0002c0006t0041g0081 a0005c0010t0059g0126	22	160	0.1375	-198	c.108 others(19): Show c.1086+1651_1086+1848del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1087784	ATTGTTGT others(191): Show ATTGTTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCC TGGCCCGTTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGG CAATATGCCTATGCCTGGCCCGTTATTATTATTATTGTTGTTGTTGAAAG TGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTG	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0066 a0001c0001t0007g0066	1	135	0.0074	-198	c.108 others(19): Show c.1086+4217_1086+4414del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
F11R_chr1_160990211_161026152	161007090	GAACCTGG others(191): Show GAACCTGGGAAGCAGAGGTTGCAGTGAGCTGAGATCGTGCCATTGCACTC CAGCCTGGGCAACAAGAAACTCCGTCTCAAAAAAAAAAAAAAAATGCTGG GCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGG CAGATCACCTGAGGTGGGGAGTTCGAGACCAGCTTGACCAACATGGAGA	G G	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA18906.hp1 HG02818.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0043 a0001c0001t0001g0044	2	390	0.0051	-198	c.65- others(15): Show c.65-5935_65-5738del	F11R	ENSG00000158769.19	transcript	ENST00000368026.11	protein_coding	1/9			chr1	TogoVar
FASTKD1_chr2_169523508_169578865	169575129	GGGGCGGG others(191): Show GGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGGCAGGTCGGCTGGCCG GGCGGGGGGCTGACCGCCCCCACCTCCCTCCCGGGCGGGGCGGCTGGCTG GGCGGGGAGCTGACCGCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG06807.hp2 HG01261.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0200 a0001c0001t0001g0201	2	390	0.0051	-198	c.-18 others(11): Show c.-1801_-1604del	FASTKD1	ENSG00000138399.18	transcript	ENST00000453153.7	protein_coding		1265		chr2	TogoVar
FASTKD1_chr2_169523508_169578865	169575164	ACGGGGCG others(191): Show ACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGG CAGGTCGGCTGGCCGGGCGGGGGGCTGACCGCCCCCACCTCCCTCCCGGG CGGGGCGGCTGGCTGGGCGGGGAGCTGACCGCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00621.hp2 HG00733.hp1 others(20): Show HG00438.hp2 HG00621.hp2 HG00733.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01168.hp2 HG01169.hp2 HG01346.hp2 HG02056.hp1 HG02083.hp1 HG02132.hp2 HG02523.hp2 HG02735.hp2 HG02886.hp1 HG03669.hp2 HG03831.hp2 NA18946.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0056 a0001c0001t0001g0095 a0001c0001t0001g0096 others(20): Show a0001c0001t0001g0056 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0126 a0001c0001t0001g0147 a0001c0001t0011g0098	23	390	0.0590	-198	c.-18 others(11): Show c.-1836_-1639del	FASTKD1	ENSG00000138399.18	transcript	ENST00000453153.7	protein_coding		1300		chr2	TogoVar
FGL1_chr8_17859389_17900524	17882873	ATAATATA others(191): Show ATAATATATAATATATCTCATATATAATATATTAAATAATATATAATATA TCTCATATATAATATATTAAATAATATATAATATATATCATATATAATAT ATTAAATATATAATATATATCATATGTAATATATTAAATATATAATATAT ATCATATGTAATATATTAAATATATAATATATATCATATGTAATATATT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03579.hp2 HG02451.hp1 HG03579.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0203 a0004c0004t0001g0204 a0004c0004t0001g0203 a0004c0004t0001g0204	2	364	0.0055	-198	c.64- others(13): Show c.64-892_64-695del	FGL1	ENSG00000104760.17	transcript	ENST00000427924.5	protein_coding	2/7			chr8	TogoVar
FOXN3_chr14_89151177_89422233	89360766	CTACCACC others(191): Show CTACCACCTCCACCACCACCTCCACCACCACCACCTCCAGCACCACCTCC ACCACCACCTCCACCACTACCACCTCCAGCACCACCTCCACCACCACCTC CACCACCACCTCCACCACCACCTCCACCACCACCACCTCCACCACCACCA CCTCCAGCACCACCTCCACCACCACCACCTCCACCACCACCACCTCCAG	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0185 a0001c0001t0013g0185	1	218	0.0046	-198	c.544 others(18): Show c.544-10156_544-9959del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
GAL3ST2_chr2_241771822_241809287	241807488	CCTTCCCT others(191): Show CCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAG GGACCTCTGCAGGCCACCTTCCCTCCCTCCCCCCTCAGCCCAGGGACCTC TGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0155 a0001c0001t0002g0155	1	312	0.0032	-198	c.33 others(11): Show c.3323_*3520del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3202		chr2	TogoVar
GALNTL6_chr4_171808404_173046559	171858378	GAAGTAAA others(191): Show GAAGTAAAAATTTCCAGAAATACTAGGATCTCTCAGCAAGGGGAAGAAAT GGGCAAACAAAATGACTAGGTTCTTATTACATAAATTATTTGATTAATTC AGCTTAGCAACCCTATCAGATATATGTTAATATCCACACTTTTCAGGTGT GGAATCTGAAGCCTATAGATTTTTTTTTAATTGCTCAAGTACTCATGCC	G G	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0020 a0001c0001t0006g0020	1	40	0.0250	-198	c.138 others(19): Show c.138+43667_138+43864del	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GCNT3_chr15_59606783_59627723	59611006	CCTCCCCC others(191): Show CCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCACCCTCC CCCTCCCCTCGCCCTCCCCCTCCCCTCGCCCTCCCCCTCCCCTTCTCCTC CCCCTCCCCTTCTCCTCCCCCTCCCCTTCTCCTCCCCCTCCCCTTCTCCT CCCCCTCCCCTTCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0007 a0001c0002t0011g0007	1	426	0.0023	-198	c.-12 others(11): Show c.-1225_-1028del	GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding		776		chr15	TogoVar
GET4_chr7_871554_901436	889915	GGGAGCGA others(191): Show GGGAGCGAGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGA GCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTA GGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTC TGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGTCTGGGAGTGGA	G G	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0178 a0001c0001t0002g0178	1	382	0.0026	-198	c.467 others(16): Show c.467-1010_467-813del	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar

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