Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
FAT1_chr4_186582794_186728856	186642615	CAGGTGCT others(13): Show CAGGTGCTGCGATGGGTGGCT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00741.hp1 HG01109.hp2 others(10): Show HG00733.hp2 HG00741.hp1 HG01109.hp2 HG02258.hp1 HG02572.hp1 HG02572.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02976.hp2 HG03139.hp2 HG03209.hp2 HG03579.hp2	a0005 a0020 a0044 others(3): Show a0005 a0020 a0044 a0100 a0119 a0120	a0005c0011 a0020c0048 a0020c0121 others(4): Show a0005c0011 a0020c0048 a0020c0121 a0044c0045 a0100c0124 a0119c0165 a0120c0162	a0005c0011t0006 a0005c0011t0017 a0005c0011t0035 others(6): Show a0005c0011t0006 a0005c0011t0017 a0005c0011t0035 a0020c0048t0031 a0020c0121t0050 a0044c0045t0001 a0100c0124t0047 a0119c0165t0035 a0120c0162t0007	a0005c0011t0006g0095 a0005c0011t0006g0096 a0005c0011t0017g0008 others(10): Show a0005c0011t0006g0095 a0005c0011t0006g0096 a0005c0011t0017g0008 a0005c0011t0017g0069 a0005c0011t0017g0084 a0005c0011t0035g0324 a0020c0048t0031g0117 a0020c0121t0050g0153 a0044c0045t0001g0244 a0044c0045t0001g0245 a0100c0124t0047g0118 a0119c0165t0035g0325 a0120c0162t0007g0326	13	338	0.0385	-20	c.358 others(39): Show c.3581-2852_3581-2833delAGCCACCCATCGCAGCACCT	FAT1	ENSG00000083857.15	transcript	ENST00000441802.7	protein_coding	3/26			chr4	TogoVar
FAT1_chr4_186582794_186728856	186645366	CATATATA others(13): Show CATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01981.hp2 NA19003.hp2 HG01175.hp2 HG01981.hp2 NA19003.hp2	a0002 a0015 a0066 a0002 a0015 a0066	a0002c0002 a0015c0012 a0066c0075 a0002c0002 a0015c0012 a0066c0075	a0002c0002t0012 a0015c0012t0005 a0066c0075t0001 a0002c0002t0012 a0015c0012t0005 a0066c0075t0001	a0002c0002t0012g0180 a0015c0012t0005g0038 a0066c0075t0001g0120 a0002c0002t0012g0180 a0015c0012t0005g0038 a0066c0075t0001g0120	3	338	0.0089	-20	c.358 others(39): Show c.3581-5603_3581-5584delATATATATATATATATATAT	FAT1	ENSG00000083857.15	transcript	ENST00000441802.7	protein_coding	3/26			chr4	TogoVar
FAT1_chr4_186582794_186728856	186675808	CACACACA others(13): Show CACACACACACACACACAATT	C C	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0007 a0009c0010t0007	a0009c0010t0007g0311 a0009c0010t0007g0311	1	338	0.0030	-20	c.326 others(41): Show c.3266-12215_3266-12196delAATTGTGTGTGTGTGTGTGT	FAT1	ENSG00000083857.15	transcript	ENST00000441802.7	protein_coding	2/26			chr4	TogoVar
FAT3_chr11_92219818_92901473	92223804	CTCTGTGT others(13): Show CTCTGTGTGTGTGTGTGTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0008 a0008	a0008c0044 a0008c0044	a0008c0044t0008 a0008c0044t0008	a0008c0044t0008g0096 a0008c0044t0008g0096	1	118	0.0085	-20	c.-13 others(31): Show c.-1387_-1368delTCTGTGTGTGTGTGTGTGTG	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding		1013		chr11	TogoVar
FAT3_chr11_92219818_92901473	92293013	AAAGGAAG others(13): Show AAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02630.hp1 HG02683.hp1 others(8): Show HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02809.hp1 HG02886.hp2 HG03041.hp1 HG03139.hp2 HG03516.hp1 NA18522.hp2 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(7): Show a0001 a0003 a0004 a0019 a0027 a0031 a0032 a0033 a0042 a0043	a0001c0006 a0003c0019 a0003c0032 others(8): Show a0001c0006 a0003c0019 a0003c0032 a0004c0012 a0019c0083 a0027c0047 a0031c0054 a0032c0027 a0033c0026 a0042c0061 a0043c0063	a0001c0006t0067 a0003c0019t0058 a0003c0032t0013 others(8): Show a0001c0006t0067 a0003c0019t0058 a0003c0032t0013 a0004c0012t0002 a0019c0083t0009 a0027c0047t0011 a0031c0054t0025 a0032c0027t0021 a0033c0026t0055 a0042c0061t0001 a0043c0063t0012	a0001c0006t0067g0018 a0003c0019t0058g0110 a0003c0032t0013g0109 others(8): Show a0001c0006t0067g0018 a0003c0019t0058g0110 a0003c0032t0013g0109 a0004c0012t0002g0054 a0019c0083t0009g0106 a0027c0047t0011g0063 a0031c0054t0025g0040 a0032c0027t0021g0075 a0033c0026t0055g0074 a0042c0061t0001g0039 a0043c0063t0012g0093	11	118	0.0932	-20	c.-17 others(39): Show c.-17-59036_-17-59017delGGAAGGAAGGAAGGAAGGAA	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92293060	GGAAGGAA others(13): Show GGAAGGAAGGAAGGAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02055.hp1 HG03540.hp1 HG01243.hp2 HG02055.hp1 HG03540.hp1	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0035 a0005c0004 a0007c0038 a0001c0035 a0005c0004 a0007c0038	a0001c0035t0033 a0005c0004t0017 a0007c0038t0057 a0001c0035t0033 a0005c0004t0017 a0007c0038t0057	a0001c0035t0033g0068 a0005c0004t0017g0058 a0007c0038t0057g0112 a0001c0035t0033g0068 a0005c0004t0017g0058 a0007c0038t0057g0112	3	118	0.0254	-20	c.-17 others(39): Show c.-17-59014_-17-58995delAAGGAAGGAAGGAAGGAAAG	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92293533	TATATATA others(13): Show TATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0003 a0003	a0003c0020 a0003c0020	a0003c0020t0086 a0003c0020t0086	a0003c0020t0086g0017 a0003c0020t0086g0017	1	118	0.0085	-20	c.-17 others(39): Show c.-17-58559_-17-58540delTATATATATATATATAAATA	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92373760	GCACACAC others(13): Show GCACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02615.hp2 HG03209.hp1 others(2): Show HG01074.hp2 HG02615.hp2 HG03209.hp1 NA19030.hp1 NA20300.hp2	a0005 a0029 a0037 others(1): Show a0005 a0029 a0037 a0038	a0005c0004 a0029c0055 a0037c0059 others(1): Show a0005c0004 a0029c0055 a0037c0059 a0038c0058	a0005c0004t0006 a0029c0055t0075 a0037c0059t0087 others(1): Show a0005c0004t0006 a0029c0055t0075 a0037c0059t0087 a0038c0058t0044	a0005c0004t0006g0060 a0005c0004t0006g0111 a0029c0055t0075g0023 others(2): Show a0005c0004t0006g0060 a0005c0004t0006g0111 a0029c0055t0075g0023 a0037c0059t0087g0015 a0038c0058t0044g0082	5	118	0.0424	-20	c.329 others(41): Show c.3292+18387_3292+18406delCACACACACACACACACACA	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92387063	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00741.hp2 HG01074.hp1 others(19): Show HG00673.hp1 HG00741.hp2 HG01074.hp1 HG01169.hp1 HG02055.hp2 HG02559.hp1 HG02572.hp1 HG02698.hp1 HG02723.hp1 HG02809.hp1 HG02922.hp1 HG02970.hp1 HG03139.hp1 HG03453.hp2 HG03927.hp2 HG04115.hp2 HG04204.hp1 NA18522.hp2 NA18940.hp2 NA18986.hp2 NA19009.hp2 NA19065.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0010 a0016 a0020 a0021 a0022 a0024 a0025	a0001c0002 a0001c0006 a0001c0052 others(16): Show a0001c0002 a0001c0006 a0001c0052 a0001c0053 a0002c0001 a0003c0010 a0003c0032 a0004c0012 a0004c0046 a0005c0004 a0007c0043 a0008c0039 a0010c0072 a0016c0081 a0020c0016 a0021c0017 a0022c0018 a0024c0042 a0025c0045	a0001c0002t0053 a0001c0006t0005 a0001c0052t0015 others(19): Show a0001c0002t0053 a0001c0006t0005 a0001c0052t0015 a0001c0053t0040 a0002c0001t0003 a0002c0001t0008 a0002c0001t0020 a0003c0010t0026 a0003c0010t0069 a0003c0032t0013 a0004c0012t0002 a0004c0046t0001 a0005c0004t0006 a0007c0043t0048 a0008c0039t0030 a0010c0072t0001 a0016c0081t0039 a0020c0016t0031 a0021c0017t0001 a0022c0018t0063 a0024c0042t0004 a0025c0045t0003	a0001c0002t0053g0090 a0001c0006t0005g0117 a0001c0052t0015g0027 others(19): Show a0001c0002t0053g0090 a0001c0006t0005g0117 a0001c0052t0015g0027 a0001c0053t0040g0050 a0002c0001t0003g0029 a0002c0001t0008g0041 a0002c0001t0020g0066 a0003c0010t0026g0048 a0003c0010t0069g0026 a0003c0032t0013g0109 a0004c0012t0002g0054 a0004c0046t0001g0099 a0005c0004t0006g0087 a0007c0043t0048g0035 a0008c0039t0030g0104 a0010c0072t0001g0077 a0016c0081t0039g0042 a0020c0016t0031g0036 a0021c0017t0001g0034 a0022c0018t0063g0012 a0024c0042t0004g0097 a0025c0045t0003g0078	22	118	0.1864	-20	c.329 others(41): Show c.3292+31688_3292+31707delGTGTGTGTGTGTGTGTGTGT	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92435468	ATCCTTCC others(13): Show ATCCTTCCTTCCTTCCTTCCT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02015.hp1 HG02080.hp2 others(12): Show HG01243.hp2 HG02015.hp1 HG02080.hp2 HG02258.hp2 HG02818.hp1 HG02970.hp2 HG03098.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG06807.hp1 NA19065.hp1 NA20300.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0007 a0012 a0026 a0046 a0047	a0001c0002 a0001c0006 a0001c0014 others(10): Show a0001c0002 a0001c0006 a0001c0014 a0001c0051 a0002c0013 a0003c0030 a0004c0012 a0005c0004 a0007c0038 a0012c0064 a0026c0040 a0046c0067 a0047c0068	a0001c0002t0053 a0001c0006t0029 a0001c0006t0052 others(12): Show a0001c0002t0053 a0001c0006t0029 a0001c0006t0052 a0001c0014t0036 a0001c0051t0088 a0002c0013t0004 a0003c0030t0005 a0004c0012t0004 a0005c0004t0017 a0005c0004t0042 a0007c0038t0057 a0012c0064t0041 a0026c0040t0002 a0046c0067t0060 a0047c0068t0037	a0001c0002t0053g0090 a0001c0006t0029g0045 a0001c0006t0052g0028 others(12): Show a0001c0002t0053g0090 a0001c0006t0029g0045 a0001c0006t0052g0028 a0001c0014t0036g0113 a0001c0051t0088g0016 a0002c0013t0004g0059 a0003c0030t0005g0095 a0004c0012t0004g0044 a0005c0004t0017g0058 a0005c0004t0042g0116 a0007c0038t0057g0112 a0012c0064t0041g0086 a0026c0040t0002g0115 a0046c0067t0060g0043 a0047c0068t0037g0085	15	118	0.1271	-20	c.329 others(41): Show c.3292+80098_3292+80117delCCTTCCTTCCTTCCTTCCTT	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92471915	CTATATAT others(13): Show CTATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0043 a0043	a0043c0063 a0043c0063	a0043c0063t0012 a0043c0063t0012	a0043c0063t0012g0093 a0043c0063t0012g0093	1	118	0.0085	-20	c.329 others(41): Show c.3293-52697_3293-52678delATATATATATATATATATAT	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92553671	CCGTCCCT others(13): Show CCGTCCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01069.hp1 HG01074.hp1 others(24): Show HG00673.hp2 HG01069.hp1 HG01074.hp1 HG01074.hp2 HG01169.hp1 HG01169.hp2 HG01884.hp1 HG01978.hp1 HG02004.hp2 HG02080.hp2 HG02559.hp2 HG02683.hp2 HG02698.hp2 HG02976.hp2 HG03041.hp1 HG03139.hp2 HG03225.hp1 HG03486.hp2 NA18522.hp1 NA18940.hp1 NA18986.hp1 NA19009.hp1 NA19060.hp2 NA19065.hp1 NA19240.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(10): Show a0001 a0002 a0004 a0010 a0018 a0025 a0032 a0033 a0037 a0038 a0039 a0043 a0044	a0001c0002 a0001c0005 a0001c0014 others(17): Show a0001c0002 a0001c0005 a0001c0014 a0001c0025 a0001c0036 a0002c0003 a0002c0029 a0002c0031 a0004c0009 a0004c0012 a0010c0072 a0018c0082 a0025c0045 a0032c0027 a0033c0026 a0037c0059 a0038c0058 a0039c0057 a0043c0063 a0044c0015	a0001c0002t0053 a0001c0002t0078 a0001c0002t0079 others(24): Show a0001c0002t0053 a0001c0002t0078 a0001c0002t0079 a0001c0002t0081 a0001c0005t0018 a0001c0005t0065 a0001c0014t0034 a0001c0025t0011 a0001c0036t0016 a0002c0003t0003 a0002c0003t0007 a0002c0003t0068 a0002c0003t0076 a0002c0029t0023 a0002c0031t0007 a0004c0009t0001 a0004c0012t0004 a0010c0072t0001 a0018c0082t0072 a0025c0045t0003 a0032c0027t0021 a0033c0026t0055 a0037c0059t0087 a0038c0058t0044 a0039c0057t0032 a0043c0063t0012 a0044c0015t0082	a0001c0002t0053g0090 a0001c0002t0078g0009 a0001c0002t0079g0003 others(24): Show a0001c0002t0053g0090 a0001c0002t0078g0009 a0001c0002t0079g0003 a0001c0002t0081g0002 a0001c0005t0018g0088 a0001c0005t0065g0004 a0001c0014t0034g0062 a0001c0025t0011g0076 a0001c0036t0016g0033 a0002c0003t0003g0037 a0002c0003t0007g0103 a0002c0003t0068g0010 a0002c0003t0076g0008 a0002c0029t0023g0051 a0002c0031t0007g0030 a0004c0009t0001g0070 a0004c0012t0004g0044 a0010c0072t0001g0077 a0018c0082t0072g0013 a0025c0045t0003g0078 a0032c0027t0021g0075 a0033c0026t0055g0074 a0037c0059t0087g0015 a0038c0058t0044g0082 a0039c0057t0032g0094 a0043c0063t0012g0093 a0044c0015t0082g0007	27	118	0.2288	-20	c.360 others(41): Show c.3607+28725_3607+28744delGTCCCTTCCTTCCTTCCTTC	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92561250	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01099.hp2 HG01891.hp1 others(21): Show HG00673.hp1 HG01099.hp2 HG01891.hp1 HG01978.hp2 HG02004.hp1 HG02055.hp2 HG02109.hp2 HG02145.hp1 HG02572.hp2 HG02698.hp1 HG02809.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG03927.hp1 HG04115.hp1 HG04204.hp1 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA19065.hp2	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0008 a0009 a0010 a0011 a0017 a0021 a0022 a0030 a0034 a0040 a0046 a0047 a0049	a0001c0002 a0001c0052 a0001c0053 others(20): Show a0001c0002 a0001c0052 a0001c0053 a0002c0001 a0002c0003 a0003c0010 a0003c0011 a0003c0030 a0004c0009 a0004c0048 a0008c0039 a0009c0007 a0010c0073 a0011c0022 a0017c0080 a0021c0017 a0022c0018 a0030c0060 a0034c0024 a0040c0056 a0046c0067 a0047c0068 a0049c0070	a0001c0002t0080 a0001c0052t0015 a0001c0053t0040 others(21): Show a0001c0002t0080 a0001c0052t0015 a0001c0053t0040 a0002c0001t0003 a0002c0003t0022 a0003c0010t0069 a0003c0011t0071 a0003c0030t0005 a0004c0009t0001 a0004c0048t0047 a0008c0039t0030 a0009c0007t0004 a0009c0007t0049 a0010c0073t0028 a0011c0022t0003 a0017c0080t0043 a0021c0017t0001 a0022c0018t0063 a0030c0060t0083 a0034c0024t0010 a0040c0056t0070 a0046c0067t0060 a0047c0068t0037 a0049c0070t0001	a0001c0002t0080g0011 a0001c0052t0015g0027 a0001c0053t0040g0050 others(21): Show a0001c0002t0080g0011 a0001c0052t0015g0027 a0001c0053t0040g0050 a0002c0001t0003g0029 a0002c0003t0022g0038 a0003c0010t0069g0026 a0003c0011t0071g0019 a0003c0030t0005g0095 a0004c0009t0001g0098 a0004c0048t0047g0055 a0008c0039t0030g0104 a0009c0007t0004g0071 a0009c0007t0049g0047 a0010c0073t0028g0052 a0011c0022t0003g0072 a0017c0080t0043g0084 a0021c0017t0001g0034 a0022c0018t0063g0012 a0030c0060t0083g0020 a0034c0024t0010g0046 a0040c0056t0070g0021 a0046c0067t0060g0043 a0047c0068t0037g0085 a0049c0070t0001g0031	24	118	0.2034	-20	c.360 others(41): Show c.3607+36323_3607+36342delGTGTGTGTGTGTGTGTGTGT	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92649871	GTTCATAT others(13): Show GTTCATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03195.hp1 HG02886.hp1 HG03195.hp1	a0003 a0014 a0003 a0014	a0003c0041 a0014c0071 a0003c0041 a0014c0071	a0003c0041t0002 a0014c0071t0054 a0003c0041t0002 a0014c0071t0054	a0003c0041t0002g0073 a0014c0071t0054g0064 a0003c0041t0002g0073 a0014c0071t0054g0064	2	118	0.0170	-20	c.360 others(41): Show c.3608-47511_3608-47492delTCATATATATATATATATAT	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92735557	CATAGATA others(13): Show CATAGATAGATAGATAGATAG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03209.hp2 HG01884.hp1 HG03209.hp2	a0001 a0048 a0001 a0048	a0001c0014 a0048c0069 a0001c0014 a0048c0069	a0001c0014t0034 a0048c0069t0046 a0001c0014t0034 a0048c0069t0046	a0001c0014t0034g0062 a0048c0069t0046g0056 a0001c0014t0034g0062 a0048c0069t0046g0056	2	118	0.0170	-20	c.367 others(41): Show c.3670-26273_3670-26254delTAGATAGATAGATAGATAGA	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT4_chr4_125309955_125497932	125396926	GTATATAT others(13): Show GTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0014 a0014	a0014c0090 a0014c0090	a0014c0090t0002 a0014c0090t0002	a0014c0090t0002g0254 a0014c0090t0002g0254	1	320	0.0031	-20	c.517 others(39): Show c.5176-1837_5176-1818delTATATATATATATATATATA	FAT4	ENSG00000196159.14	transcript	ENST00000394329.9	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
FATE1_chrX_151711035_151728194	151714741	CCCTTCCT others(13): Show CCCTTCCTTCCTTCCTTCCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02109.hp1 HG02280.hp1 others(10): Show HG02055.hp1 HG02109.hp1 HG02280.hp1 HG02630.hp2 HG02922.hp1 HG03098.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 NA19030.hp1 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0022 a0001c0001t0001g0046 a0001c0001t0001g0076 others(8): Show a0001c0001t0001g0022 a0001c0001t0001g0046 a0001c0001t0001g0076 a0001c0001t0001g0093 a0001c0001t0002g0018 a0001c0001t0002g0023 a0001c0001t0002g0086 a0001c0001t0003g0002 a0001c0001t0003g0008 a0001c0001t0004g0014 a0001c0001t0004g0044	13	342	0.0380	-20	c.-13 others(31): Show c.-1378_-1359delCCTTCCTTCCTTCCTTCCTT	FATE1	ENSG00000147378.11	transcript	ENST00000370350.7	protein_coding		1293		chrX	TogoVar
FATE1_chrX_151711035_151728194	151714773	TCCTTCCT others(13): Show TCCTTCCTTCCTTCCTTCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG03209.hp1 HG02886.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0034 a0001c0001t0001g0035	2	342	0.0059	-20	c.-13 others(31): Show c.-1346_-1327delCCTTCCTTCCTTCCTTCCTC	FATE1	ENSG00000147378.11	transcript	ENST00000370350.7	protein_coding		1261		chrX	TogoVar
FATE1_chrX_151711035_151728194	151715029	ATATGTAT others(13): Show ATATGTATGTATGTATGTATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG04115.hp1 HG03239.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	2	342	0.0059	-20	c.-10 others(31): Show c.-1090_-1071delTATGTATGTATGTATGTATG	FATE1	ENSG00000147378.11	transcript	ENST00000370350.7	protein_coding		1005		chrX	TogoVar
FATE1_chrX_151711035_151728194	151718110	GAGGAAGG others(13): Show GAGGAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00558.hp2 HG00597.hp1 others(42): Show HG00099.hp1 HG00558.hp2 HG00597.hp1 HG01081.hp1 HG01243.hp1 HG02027.hp1 HG02056.hp1 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02280.hp1 HG02723.hp1 HG02896.hp1 HG03540.hp1 HG03834.hp2 HG04184.hp2 NA18947.hp1 NA18961.hp1 NA18964.hp2 NA18969.hp2 NA18972.hp1 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18985.hp1 NA18991.hp2 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA19000.hp1 NA19002.hp1 NA19003.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19055.hp1 NA19057.hp1 NA19080.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0007 a0002c0002t0008	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0010 others(15): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0032 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0093 a0001c0001t0002g0006 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0019 a0002c0002t0002g0005 a0002c0002t0002g0006 a0002c0002t0002g0048 a0002c0002t0007g0005 a0002c0002t0008g0092	45	342	0.1316	-20	c.234 others(35): Show c.234+755_234+774delAAGGAAGGAAGGAAGGAAGG	FATE1	ENSG00000147378.11	transcript	ENST00000370350.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
FAXC_chr6_99266168_99354674	99272146	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00738.hp2 HG00741.hp1 HG01070.hp2 others(49): Show HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01167.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01496.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02080.hp1 HG02135.hp2 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02523.hp1 HG02602.hp2 HG03490.hp1 HG03834.hp2 HG04204.hp1 NA18939.hp1 NA18943.hp1 NA18948.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp2 NA18953.hp2 NA18962.hp1 NA18981.hp1 NA18984.hp2 NA18986.hp1 NA18989.hp2 NA18993.hp2 NA19001.hp2 NA19055.hp1 NA19065.hp2 NA19066.hp1 NA19080.hp1 NA19088.hp2 NA19089.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0017 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0017 a0001c0001t0045 a0001c0001t0065 a0001c0001t0066 a0001c0001t0136 a0001c0002t0004 a0001c0002t0121	a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0017 others(47): Show a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0004g0014 a0001c0001t0004g0207 a0001c0001t0004g0228 a0001c0001t0004g0308 a0001c0001t0004g0335 a0001c0001t0004g0364 a0001c0001t0004g0366 a0001c0001t0004g0367 a0001c0001t0004g0368 a0001c0001t0004g0369 a0001c0001t0004g0370 a0001c0001t0017g0021 a0001c0001t0017g0025 a0001c0001t0017g0050 a0001c0001t0017g0051 a0001c0001t0017g0052 a0001c0001t0045g0092 a0001c0001t0045g0109 a0001c0001t0065g0049 a0001c0001t0066g0056 a0001c0001t0136g0320 a0001c0002t0004g0192 a0001c0002t0004g0205 a0001c0002t0121g0199	52	398	0.1307	-20	c.89 others(31): Show c.8998_*9017delCACACACACACACACACACA	FAXC	ENSG00000146267.12	transcript	ENST00000389677.6	protein_coding	6/6	8998		chr6	TogoVar
FBLN1_chr22_45497883_45606135	45555252	TATATATA others(13): Show TATATATATATATAAAATGGA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02145.hp1 HG02486.hp2 others(1): Show HG02055.hp2 HG02145.hp1 HG02486.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0001t0002 a0001c0013t0001 a0001c0001t0001 a0001c0001t0002 a0001c0013t0001	a0001c0001t0001g0069 a0001c0001t0001g0106 a0001c0001t0002g0270 others(1): Show a0001c0001t0001g0069 a0001c0001t0001g0106 a0001c0001t0002g0270 a0001c0013t0001g0070	4	346	0.0116	-20	c.169 others(39): Show c.1697+4651_1697+4670delAAATGGAATATATATATATA	FBLN1	ENSG00000077942.19	transcript	ENST00000327858.11	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
FBLN2_chr3_13544125_13643404	13612294	CCTTTCTT others(13): Show CCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0047 a0002c0001t0002g0047	1	312	0.0032	-20	c.154 others(39): Show c.1549-1661_1549-1642delCTTTCTTTCTTTCTTTCTTT	FBLN2	ENSG00000163520.14	transcript	ENST00000404922.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
FBLN2_chr3_13544125_13643404	13614973	TATCCATC others(13): Show TATCCATCCATCCATCCATCC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02895.hp1 HG02970.hp1 others(3): Show HG02109.hp1 HG02895.hp1 HG02970.hp1 HG03209.hp2 HG03471.hp2 NA18906.hp1	a0001 a0006 a0001 a0006	a0001c0012 a0006c0082 a0001c0012 a0006c0082	a0001c0012t0001 a0001c0012t0005 a0006c0082t0012 a0001c0012t0001 a0001c0012t0005 a0006c0082t0012	a0001c0012t0001g0250 a0001c0012t0001g0251 a0001c0012t0001g0255 others(3): Show a0001c0012t0001g0250 a0001c0012t0001g0251 a0001c0012t0001g0255 a0001c0012t0001g0256 a0001c0012t0005g0252 a0006c0082t0012g0310	6	312	0.0192	-20	c.172 others(37): Show c.1729+840_1729+859delCCATCCATCCATCCATCCAT	FBLN2	ENSG00000163520.14	transcript	ENST00000404922.8	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
FBLN7_chr2_112133385_112193218	112160753	CACACACG others(13): Show CACACACGCACGCACACGCAG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG01928.hp2 others(9): Show HG00140.hp1 HG00280.hp1 HG01928.hp2 HG01934.hp1 HG02293.hp2 HG02698.hp1 HG03017.hp1 HG03041.hp1 HG03688.hp1 HG03834.hp2 HG03942.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012	a0001c0001t0001g0059 a0001c0001t0004g0062 a0001c0001t0004g0064 others(9): Show a0001c0001t0001g0059 a0001c0001t0004g0062 a0001c0001t0004g0064 a0001c0001t0004g0074 a0001c0001t0005g0191 a0001c0001t0006g0058 a0001c0001t0006g0060 a0001c0001t0006g0063 a0001c0001t0006g0065 a0001c0001t0006g0066 a0001c0001t0006g0067 a0001c0001t0012g0255	12	346	0.0347	-20	c.235 others(35): Show c.235+921_235+940delACACGCACGCACACGCAGAC	FBLN7	ENSG00000144152.13	transcript	ENST00000331203.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
FBN1_chr15_48403313_48650709	48547721	TCACACAC others(13): Show TCACACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0138 a0001c0004t0004g0138	1	288	0.0035	-20	c.539 others(37): Show c.539-9933_539-9914delTGTGTGTGTGTGTGTGTGTG	FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	6/65			chr15	TogoVar
FBN2_chr5_128252909_128543245	128310386	ATATATAT others(13): Show ATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0002 a0003c0016t0002	a0003c0016t0002g0043 a0003c0016t0002g0043	1	236	0.0042	-20	c.507 others(37): Show c.5075-298_5075-279delAAAATATATATATATATATA	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding	39/64			chr5	TogoVar
FBN2_chr5_128252909_128543245	128310388	ATATATAT others(13): Show ATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01256.hp2 HG01258.hp1 others(7): Show HG01074.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp2 HG01496.hp2 HG02155.hp1 HG02273.hp1 HG03239.hp2 NA18960.hp1 NA19079.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0006 a0003c0013 a0002c0002 a0003c0006 a0003c0013	a0002c0002t0001 a0003c0006t0004 a0003c0013t0007 others(1): Show a0002c0002t0001 a0003c0006t0004 a0003c0013t0007 a0003c0013t0016	a0002c0002t0001g0161 a0002c0002t0001g0220 a0003c0006t0004g0042 others(7): Show a0002c0002t0001g0161 a0002c0002t0001g0220 a0003c0006t0004g0042 a0003c0006t0004g0044 a0003c0006t0004g0045 a0003c0006t0004g0047 a0003c0006t0004g0048 a0003c0006t0004g0050 a0003c0013t0007g0171 a0003c0013t0016g0003	10	236	0.0424	-20	c.507 others(37): Show c.5075-300_5075-281delAAAAAATATATATATATATA	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding	39/64			chr5	TogoVar
FBN2_chr5_128252909_128543245	128310390	ATATATAT others(13): Show ATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA18990.hp1 NA19003.hp2 HG02559.hp2 NA18990.hp1 NA19003.hp2	a0001 a0009 a0001 a0009	a0001c0011 a0009c0024 a0001c0011 a0009c0024	a0001c0011t0009 a0009c0024t0007 a0001c0011t0009 a0009c0024t0007	a0001c0011t0009g0065 a0009c0024t0007g0122 a0009c0024t0007g0123 a0001c0011t0009g0065 a0009c0024t0007g0122 a0009c0024t0007g0123	3	236	0.0127	-20	c.507 others(37): Show c.5075-302_5075-283delAAAAAAAATATATATATATA	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding	39/64			chr5	TogoVar
FBN2_chr5_128252909_128543245	128310392	ATATATAT others(13): Show ATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01081.hp2 HG01884.hp2 others(3): Show HG00639.hp1 HG01081.hp2 HG01884.hp2 HG02258.hp1 HG02280.hp2 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0036 a0002c0002 a0002c0023 others(2): Show a0001c0036 a0002c0002 a0002c0023 a0002c0037 a0002c0059	a0001c0036t0004 a0002c0002t0005 a0002c0023t0007 others(3): Show a0001c0036t0004 a0002c0002t0005 a0002c0023t0007 a0002c0023t0038 a0002c0037t0023 a0002c0059t0005	a0001c0036t0004g0032 a0002c0002t0005g0086 a0002c0023t0007g0121 others(3): Show a0001c0036t0004g0032 a0002c0002t0005g0086 a0002c0023t0007g0121 a0002c0023t0038g0235 a0002c0037t0023g0034 a0002c0059t0005g0092	6	236	0.0254	-20	c.507 others(37): Show c.5075-304_5075-285delAAAAAAAAAATATATATATA	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding	39/64			chr5	TogoVar
FBN2_chr5_128252909_128543245	128310394	ATATATAT others(13): Show ATATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0218 a0002c0002t0001g0218	1	236	0.0042	-20	c.507 others(37): Show c.5075-306_5075-287delAAAAAAAAAAAATATATATA	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding	39/64			chr5	TogoVar
FBN2_chr5_128252909_128543245	128430851	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0004 a0003c0006t0004	a0003c0006t0004g0047 a0003c0006t0004g0047	1	236	0.0042	-20	c.952 others(39): Show c.952+15610_952+15629delATTTATTTATTTATTTATTT	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding	7/64			chr5	TogoVar
FBN2_chr5_128252909_128543245	128437773	TATAGATA others(13): Show TATAGATAGATAGATAGATAG	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA20129.hp2 HG03579.hp1 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0023 a0002c0002 a0002c0023	a0002c0002t0005 a0002c0023t0007 a0002c0002t0005 a0002c0023t0007	a0002c0002t0005g0102 a0002c0023t0007g0121 a0002c0002t0005g0102 a0002c0023t0007g0121	2	236	0.0085	-20	c.952 others(37): Show c.952+8688_952+8707delCTATCTATCTATCTATCTAT	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding	7/64			chr5	TogoVar
FBN2_chr5_128252909_128543245	128479972	CTCTCTAT others(13): Show CTCTCTATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03927.hp2 NA20905.hp2 HG03195.hp1 HG03927.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0011 a0001c0021 a0002c0002 a0001c0011 a0001c0021 a0002c0002	a0001c0011t0010 a0001c0021t0003 a0002c0002t0002 a0001c0011t0010 a0001c0021t0003 a0002c0002t0002	a0001c0011t0010g0104 a0001c0021t0003g0010 a0002c0002t0002g0068 a0001c0011t0010g0104 a0001c0021t0003g0010 a0002c0002t0002g0068	3	236	0.0127	-20	c.629 others(39): Show c.629-15071_629-15052delTATATATATATATATAGAGA	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding	5/64			chr5	TogoVar
FBN2_chr5_128252909_128543245	128479974	CTCTATAT others(13): Show CTCTATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02717.hp1 HG02896.hp2 others(1): Show HG01074.hp1 HG02717.hp1 HG02896.hp2 HG03041.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0001c0009 a0003c0010 others(1): Show a0001c0003 a0001c0009 a0003c0010 a0003c0013	a0001c0003t0032 a0001c0009t0006 a0003c0010t0008 others(1): Show a0001c0003t0032 a0001c0009t0006 a0003c0010t0008 a0003c0013t0016	a0001c0003t0032g0141 a0001c0009t0006g0028 a0003c0010t0008g0085 others(1): Show a0001c0003t0032g0141 a0001c0009t0006g0028 a0003c0010t0008g0085 a0003c0013t0016g0003	4	236	0.0170	-20	c.629 others(39): Show c.629-15073_629-15054delTATATATATATATATATAGA	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding	5/64			chr5	TogoVar
FBN2_chr5_128252909_128543245	128479976	CTATATAT others(13): Show CTATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01106.hp2 HG01192.hp2 others(6): Show HG00140.hp1 HG01106.hp2 HG01192.hp2 HG01256.hp1 HG01258.hp2 HG01361.hp2 HG01981.hp2 HG02818.hp1 HG03239.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0003c0004 a0003c0012 others(2): Show a0001c0003 a0003c0004 a0003c0012 a0003c0062 a0003c0065	a0001c0003t0001 a0003c0004t0001 a0003c0004t0036 others(3): Show a0001c0003t0001 a0003c0004t0001 a0003c0004t0036 a0003c0012t0001 a0003c0062t0007 a0003c0065t0011	a0001c0003t0001g0185 a0003c0004t0001g0124 a0003c0004t0001g0129 others(6): Show a0001c0003t0001g0185 a0003c0004t0001g0124 a0003c0004t0001g0129 a0003c0004t0036g0233 a0003c0012t0001g0138 a0003c0012t0001g0139 a0003c0012t0001g0187 a0003c0062t0007g0137 a0003c0065t0011g0084	9	236	0.0381	-20	c.629 others(39): Show c.629-15075_629-15056delTATATATATATATATATATA	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding	5/64			chr5	TogoVar
FBN2_chr5_128252909_128543245	128539947	CATATATA others(13): Show CATATATATCATATATATCAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG02257.hp1 HG06807.hp2 HG01516.hp2 HG02257.hp1 HG06807.hp2	a0012 a0024 a0012 a0024	a0012c0026 a0024c0068 a0012c0026 a0024c0068	a0012c0026t0002 a0024c0068t0002 a0012c0026t0002 a0024c0068t0002	a0012c0026t0002g0107 a0012c0026t0002g0108 a0024c0068t0002g0106 a0012c0026t0002g0107 a0012c0026t0002g0108 a0024c0068t0002g0106	3	236	0.0127	-20	c.-23 others(31): Show c.-2364_-2345delATGATATATATGATATATAT	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding		1703		chr5	TogoVar
FBN3_chr19_8060402_8154592	8130659	GGAAAAGA others(13): Show GGAAAAGAAAAGAAAAGAAAA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0113 a0113	a0113c0126 a0113c0126	a0113c0126t0001 a0113c0126t0001	a0113c0126t0001g0031 a0113c0126t0001g0031	1	380	0.0026	-20	c.204 others(37): Show c.2044+556_2044+575delTTTTCTTTTCTTTTCTTTTC	FBN3	ENSG00000142449.13	transcript	ENST00000600128.6	protein_coding	16/63			chr19	TogoVar
FBP2_chr9_94553720_94598824	94591020	CCTGAGCT others(13): Show CCTGAGCTAGATATAAAGACT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00438.hp2 others(52): Show HG00099.hp1 HG00408.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG01106.hp2 HG01109.hp2 HG01346.hp1 HG01496.hp1 HG01928.hp1 HG01928.hp2 HG01978.hp2 HG01981.hp2 HG02015.hp1 HG02027.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02486.hp2 HG02683.hp2 HG02735.hp1 HG02738.hp1 HG03130.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp2 HG04199.hp1 NA18612.hp2 NA18747.hp2 NA18943.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18959.hp2 NA18962.hp2 NA18964.hp2 NA18969.hp2 NA18974.hp1 NA18977.hp2 NA18979.hp2 NA18982.hp2 NA18983.hp2 NA18991.hp1 NA19006.hp1 NA19010.hp1 NA19060.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19082.hp1 NA19085.hp2 NA19090.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0004 others(1): Show a0001c0001 a0002c0003 a0002c0004 a0002c0018	a0001c0001t0001 a0002c0003t0003 a0002c0003t0008 others(4): Show a0001c0001t0001 a0002c0003t0003 a0002c0003t0008 a0002c0004t0001 a0002c0004t0002 a0002c0004t0004 a0002c0018t0002	a0001c0001t0001g0025 a0001c0001t0001g0179 a0001c0001t0001g0180 others(49): Show a0001c0001t0001g0025 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0314 a0002c0003t0003g0019 a0002c0003t0003g0167 a0002c0003t0003g0168 a0002c0003t0003g0183 a0002c0003t0003g0185 a0002c0003t0003g0189 a0002c0003t0003g0190 a0002c0003t0003g0195 a0002c0003t0003g0196 a0002c0003t0003g0197 a0002c0003t0003g0198 a0002c0003t0003g0199 a0002c0003t0003g0200 a0002c0003t0003g0206 a0002c0003t0003g0207 a0002c0003t0003g0208 a0002c0003t0003g0209 a0002c0003t0003g0210 a0002c0003t0003g0211 a0002c0003t0003g0213 a0002c0003t0003g0214 a0002c0003t0003g0215 a0002c0003t0003g0216 a0002c0003t0008g0334 a0002c0004t0001g0174 a0002c0004t0001g0186 a0002c0004t0001g0187 a0002c0004t0001g0188 a0002c0004t0001g0201 a0002c0004t0001g0212 a0002c0004t0002g0018 a0002c0004t0002g0171 a0002c0004t0002g0172 a0002c0004t0002g0173 a0002c0004t0002g0175 a0002c0004t0002g0176 a0002c0004t0002g0177 a0002c0004t0002g0178 a0002c0004t0002g0184 a0002c0004t0002g0203 a0002c0004t0004g0170 a0002c0018t0002g0202	55	380	0.1447	-20	c.170 others(37): Show c.170+2517_170+2536delAGTCTTTATATCTAGCTCAG	FBP2	ENSG00000130957.5	transcript	ENST00000375337.4	protein_coding	1/6			chr9	TogoVar
FBRSL1_chr12_132485151_132590188	132570795	GGGCCTCC others(13): Show GGGCCTCCCCTCCTGGGGCCA	G G	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0000 a0000	a0000c0062 a0000c0062	a0000c0062t0055 a0000c0062t0055	a0000c0062t0055g0142 a0000c0062t0055g0142	1	348	0.0029	-20	c.121 others(37): Show c.1214-263_1214-244delTCCTGGGGCCAGGCCTCCCC	FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
FBXL13_chr7_102806189_103079796	102834086	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0006 a0001c0002t0001 a0001c0002t0006	a0001c0002t0001g0197 a0001c0002t0006g0196 a0001c0002t0001g0197 a0001c0002t0006g0196	2	328	0.0061	-20	c.199 others(39): Show c.1990-1132_1990-1113delCTTTCTTTCTTTCTTTCTTT	FBXL13	ENSG00000161040.19	transcript	ENST00000440067.4	protein_coding	18/20			chr7	TogoVar
FBXL13_chr7_102806189_103079796	102836789	TTGACTGT others(13): Show TTGACTGTCACAATAATGTGC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG00609.hp1 others(29): Show HG00438.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp2 HG01928.hp1 HG01934.hp1 HG01975.hp1 HG01978.hp1 HG02056.hp2 HG02129.hp2 HG02155.hp1 HG02165.hp2 HG02273.hp2 HG02523.hp1 HG03831.hp1 NA18941.hp2 NA18959.hp2 NA18961.hp2 NA18962.hp2 NA18973.hp1 NA18979.hp1 NA18993.hp1 NA18994.hp2 NA18998.hp1 NA19005.hp1 NA19010.hp2 NA19064.hp2 NA19068.hp1 NA19078.hp2	a0004 a0006 a0016 a0004 a0006 a0016	a0004c0005 a0006c0007 a0016c0018 a0004c0005 a0006c0007 a0016c0018	a0004c0005t0001 a0006c0007t0001 a0016c0018t0001 a0004c0005t0001 a0006c0007t0001 a0016c0018t0001	a0004c0005t0001g0146 a0004c0005t0001g0153 a0004c0005t0001g0155 others(29): Show a0004c0005t0001g0146 a0004c0005t0001g0153 a0004c0005t0001g0155 a0004c0005t0001g0158 a0004c0005t0001g0161 a0004c0005t0001g0162 a0004c0005t0001g0163 a0004c0005t0001g0165 a0004c0005t0001g0166 a0004c0005t0001g0167 a0004c0005t0001g0168 a0004c0005t0001g0170 a0004c0005t0001g0171 a0004c0005t0001g0180 a0004c0005t0001g0185 a0004c0005t0001g0188 a0004c0005t0001g0194 a0004c0005t0001g0195 a0004c0005t0001g0215 a0004c0005t0001g0220 a0004c0005t0001g0223 a0004c0005t0001g0226 a0006c0007t0001g0052 a0006c0007t0001g0273 a0006c0007t0001g0274 a0006c0007t0001g0283 a0006c0007t0001g0301 a0006c0007t0001g0302 a0006c0007t0001g0303 a0006c0007t0001g0304 a0006c0007t0001g0307 a0016c0018t0001g0144	32	328	0.0976	-20	c.199 others(39): Show c.1990-3835_1990-3816delGCACATTATTGTGACAGTCA	FBXL13	ENSG00000161040.19	transcript	ENST00000440067.4	protein_coding	18/20			chr7	TogoVar
FBXL13_chr7_102806189_103079796	102848555	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	328	0.0031	-20	c.198 others(39): Show c.1989+6202_1989+6221delTTTTTTTTTTTTTTTTTTTT	FBXL13	ENSG00000161040.19	transcript	ENST00000440067.4	protein_coding	18/20			chr7	TogoVar
FBXL13_chr7_102806189_103079796	102856478	CAAGTTAG others(13): Show CAAGTTAGAATTTTTTAAGAT	C C	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0211 a0001c0009t0001g0211	1	328	0.0031	-20	c.190 others(39): Show c.1906-1638_1906-1619delATCTTAAAAAATTCTAACTT	FBXL13	ENSG00000161040.19	transcript	ENST00000440067.4	protein_coding	17/20			chr7	TogoVar
FBXL13_chr7_102806189_103079796	103024135	AAGAGAGA others(13): Show AAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02922.hp1 HG02976.hp2 others(5): Show HG01106.hp1 HG02922.hp1 HG02976.hp2 HG03225.hp1 HG03471.hp2 HG03490.hp1 HG03492.hp2 HG03579.hp1	a0001 a0010 a0011 a0001 a0010 a0011	a0001c0002 a0010c0017 a0011c0019 a0001c0002 a0010c0017 a0011c0019	a0001c0002t0001 a0001c0002t0003 a0001c0002t0009 others(3): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0009 a0001c0002t0010 a0010c0017t0011 a0011c0019t0018	a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0003g0133 others(5): Show a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0003g0133 a0001c0002t0009g0007 a0001c0002t0009g0023 a0001c0002t0010g0127 a0010c0017t0011g0150 a0011c0019t0018g0125	8	328	0.0244	-20	c.765 others(35): Show c.765+908_765+927delCTCTCTCTCTCTCTCTCTCT	FBXL13	ENSG00000161040.19	transcript	ENST00000440067.4	protein_coding	7/20			chr7	TogoVar
FBXL13_chr7_102806189_103079796	103060020	TTATATAT others(13): Show TTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03516.hp1 NA18957.hp2 others(3): Show HG02809.hp1 HG03516.hp1 NA18957.hp2 NA18960.hp2 NA19006.hp2 NA19070.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0008 a0001c0001 a0001c0002 a0005c0008	a0001c0001t0001 a0001c0002t0001 a0005c0008t0001 a0001c0001t0001 a0001c0002t0001 a0005c0008t0001	a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0110 others(3): Show a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0110 a0001c0002t0001g0289 a0005c0008t0001g0203 a0005c0008t0001g0204	6	328	0.0183	-20	c.76- others(35): Show c.76-4293_76-4274delTATATATATATATATATATA	FBXL13	ENSG00000161040.19	transcript	ENST00000440067.4	protein_coding	1/20			chr7	TogoVar
FBXL13_chr7_102806189_103079796	103076939	GTGCAGTG others(13): Show GTGCAGTGGCGCAATCACAGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp1 NA18965.hp2 NA19001.hp1 others(1): Show NA18945.hp1 NA18965.hp2 NA19001.hp1 NA19062.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0014 a0002c0003t0004 a0002c0003t0014	a0002c0003t0004g0251 a0002c0003t0004g0261 a0002c0003t0004g0269 others(1): Show a0002c0003t0004g0251 a0002c0003t0004g0261 a0002c0003t0004g0269 a0002c0003t0014g0250	4	328	0.0122	-20	c.-21 others(31): Show c.-2189_-2170delGCTGTGATTGCGCCACTGCA	FBXL13	ENSG00000161040.19	transcript	ENST00000440067.4	protein_coding		2144		chr7	TogoVar
FBXL13_chr7_102806189_103079796	103076945	TGGCGCAA others(13): Show TGGCGCAATCACAGCTGCAGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0071 a0001c0006t0001g0071	1	328	0.0031	-20	c.-21 others(31): Show c.-2195_-2176delGCTGCAGCTGTGATTGCGCC	FBXL13	ENSG00000161040.19	transcript	ENST00000440067.4	protein_coding		2150		chr7	TogoVar
FBXL14_chr12_1560993_1599581	1562746	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01346.hp2 HG02965.hp2 HG01081.hp2 HG01346.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0004 a0001c0001t0001 a0001c0003t0004	a0001c0001t0001g0211 a0001c0001t0001g0250 a0001c0003t0004g0065 a0001c0001t0001g0211 a0001c0001t0001g0250 a0001c0003t0004g0065	3	418	0.0072	-20	c.39 others(31): Show c.3982_*4001delCACACACACACACACACACA	FBXL14	ENSG00000171823.7	transcript	ENST00000339235.4	protein_coding		3246		chr12	TogoVar
FBXL14_chr12_1560993_1599581	1597512	GTATATAT others(13): Show GTATATATATATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG00733.hp2 others(40): Show HG00323.hp2 HG00438.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp2 HG01070.hp1 HG01074.hp2 HG01175.hp1 HG01192.hp2 HG01515.hp1 HG01516.hp2 HG01981.hp2 HG02071.hp1 HG02109.hp2 HG02145.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02523.hp1 HG02683.hp2 HG02723.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03491.hp1 HG03927.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18947.hp1 NA18952.hp2 NA18965.hp1 NA18970.hp1 NA18975.hp2 NA19005.hp1 NA19063.hp2 NA19066.hp1 NA19068.hp1 NA20752.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0022 a0001c0001t0038 a0001c0004t0006 a0001c0004t0010 a0001c0004t0027	a0001c0001t0001g0011 a0001c0001t0001g0071 a0001c0001t0001g0089 others(38): Show a0001c0001t0001g0011 a0001c0001t0001g0071 a0001c0001t0001g0089 a0001c0001t0001g0102 a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0178 a0001c0001t0001g0197 a0001c0001t0001g0217 a0001c0001t0001g0223 a0001c0001t0001g0229 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0243 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0002g0317 a0001c0001t0003g0010 a0001c0001t0003g0123 a0001c0001t0003g0260 a0001c0001t0004g0163 a0001c0001t0004g0206 a0001c0001t0005g0018 a0001c0001t0006g0033 a0001c0001t0007g0264 a0001c0001t0009g0287 a0001c0001t0022g0023 a0001c0001t0038g0398 a0001c0004t0006g0028 a0001c0004t0006g0029 a0001c0004t0006g0030 a0001c0004t0010g0003 a0001c0004t0010g0050 a0001c0004t0027g0027	43	418	0.1029	-20	c.-34 others(31): Show c.-3466_-3447delTATATATATATATATATATA	FBXL14	ENSG00000171823.7	transcript	ENST00000339235.4	protein_coding		2932		chr12	TogoVar

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