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
PIGQ_chr16_564968_589109	579454	AGAGATGC others(113): Show AGAGATGCCCCGGGCCCGGAGACTAGAGGTGCCCCGGGCCCGGAGACTAG AGGTGCCCCGGGCCCGGAGACTAGAGGTGCCCCGGGCCCGGAGACTAGAG GTGCCCCGGGCCCGGAGACTT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01993.hp2 HG02109.hp2 others(7): Show HG01891.hp1 HG01993.hp2 HG02109.hp2 HG02148.hp2 HG02451.hp1 HG02886.hp2 HG02965.hp1 HG03139.hp2 HG03486.hp1 NA18973.hp1	a0001 a0003 a0015 a0001 a0003 a0015	a0001c0002 a0003c0011 a0015c0020 a0001c0002 a0003c0011 a0015c0020	a0001c0002t0004 a0001c0002t0006 a0003c0011t0007 others(1): Show a0001c0002t0004 a0001c0002t0006 a0003c0011t0007 a0015c0020t0007	a0001c0002t0004g0040 a0001c0002t0004g0041 a0001c0002t0004g0042 others(7): Show a0001c0002t0004g0040 a0001c0002t0004g0041 a0001c0002t0004g0042 a0001c0002t0004g0063 a0001c0002t0004g0064 a0001c0002t0006g0084 a0001c0002t0006g0322 a0003c0011t0007g0308 a0003c0011t0007g0312 a0015c0020t0007g0136	10	408	0.0245	-120	c.133 others(17): Show c.1335+278_1335+397del	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PIGQ_chr16_564968_589109	579622	AGAGGTGC others(113): Show AGAGGTGCCCCGGGCCCGGAGACTAGAGGTGCCCCGGGCCCGGAGACTAG AGGTGCCCCGGGCCCGGAGACTTGAGGTGCCCCGGGCCCGGAGACTAGAG GTGCCCCGGGCCCGGAGACTT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG03834.hp1 HG04228.hp1 HG00597.hp1 HG03834.hp1 HG04228.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0003 a0001c0002 a0003c0003	a0001c0002t0002 a0003c0003t0003 a0001c0002t0002 a0003c0003t0003	a0001c0002t0002g0010 a0001c0002t0002g0260 a0003c0003t0003g0048 a0001c0002t0002g0010 a0001c0002t0002g0260 a0003c0003t0003g0048	3	408	0.0074	-120	c.133 others(17): Show c.1336-455_1336-336del	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PIK3C2G_chr12_18256518_18653416	18369567	ATCGTATA others(113): Show ATCGTATAATTGACATATGATCATATAACGATCGTATAATTGACATATGA TCATATAACGATCGTATAATTGACATATGATCATATAACGGTCGTATAAT TGACATATGATCATATAACGG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0029 a0002c0029	a0002c0029t0001 a0002c0029t0001	a0002c0029t0001g0115 a0002c0029t0001g0115	1	176	0.0057	-120	c.174 others(19): Show c.1749-1583_1749-1464del	PIK3C2G	ENSG00000139144.11	transcript	ENST00000538779.6	protein_coding	12/32		INFO_REALIGN_3_PRIME	chr12	TogoVar
PINX1_chr8_10759961_10844875	10805977	TGGGTGAC others(113): Show TGGGTGACGGAGCACAGGAAGGGGCCACACTAGTGCTGAGGGGGTGACGG AGCACAGGAAGGGGCCACACTAGTGCTGAGTGGGTGACGGAGCACAGGAA GGGGCCACACTAGTGCTGAGG	T T	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	352	0.0028	-120	c.471 others(19): Show c.471+14096_471+14215del	PINX1	ENSG00000254093.9	transcript	ENST00000314787.8	protein_coding	6/6			chr8	TogoVar
PLEKHN1_chr1_961482_980865	977926	CACCACCC others(113): Show CACCACCCCGCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGG AACCGCCTCCCAATCCCCCCAACCCCAGGAACCGCCTCCCAACCCCCCCC AACCCCAGGAACCGCCTCCCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0009 a0001c0009t0009	a0001c0009t0009g0036 a0001c0009t0009g0036	1	422	0.0024	-120	c.33 others(11): Show c.3352_*3471del	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		2062		chr1	TogoVar
PLIN1_chr15_89659367_89684367	89663551	GCCAGGGC others(113): Show GCCAGGGCCACAGAGTCAGTGCCAGGGCCACAGAGTCAGTTCCAGGGCCA CAGAGTCAGTGCCAGGGCCACAGAGTCAGTTCCAGGGCCACAGAGTCAGT GCCAGGGCCACAGAGTCAGTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	460	0.0022	-120	c.19 others(11): Show c.1912_*2031del	PLIN1	ENSG00000166819.12	transcript	ENST00000300055.10	protein_coding		815		chr15	TogoVar
POLN_chr4_2066918_2247121	2080410	GGGGGTGG others(113): Show GGGGGTGGGGGCAGAGCTGGGCGTGGGGCACACTGCCTGGCACTGGTGGC AGCAACAGGTAGGGGTGGGGGCAGAGCTGGGCGTGGGGCACACTGCCTGG CACTGGTGGCAGCAACAGGTA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0164 a0002c0001t0001g0164	1	194	0.0052	-120	c.238 others(17): Show c.2387+428_2387+547del	POLN	ENSG00000130997.16	transcript	ENST00000511885.6	protein_coding	23/25			chr4	TogoVar
PPP1R12B_chr1_202343699_202597702	202391570	TTGAAGAT others(113): Show TTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATC TTCAGGTGTACTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAA ATGAATTATCTTCAGGTGTAC	T T	intron_variant intron_variant	MODIFIER	HG03490.hp2 NA18945.hp1 NA20300.hp1 HG03490.hp2 NA18945.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0186 a0001c0001t0001g0230 a0001c0001t0006g0173 a0001c0001t0001g0186 a0001c0001t0001g0230 a0001c0001t0006g0173	3	254	0.0118	-120	c.292 others(19): Show c.292-24752_292-24633del	PPP1R12B	ENSG00000077157.23	transcript	ENST00000608999.6	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
PPP2R3B_chrX_328933_391907	339978	CGGGGGGG others(113): Show CGGGGGGGTGAGAGGGGAGGAGATGGGGGGGGTGAGAGGGGAGGAGATGG GGGGGGTGAGAGGGGAGGAGATGGGGGGGGTGAGAGGGGAGGAGATGGGG GGGTGAGAGGGGAGGAGATGG	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0006 a0006c0013t0006	a0006c0013t0006g0025 a0006c0013t0006g0025	1	25	0.0400	-120	c.135 others(17): Show c.1351+667_1351+786del	PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	10/12			chrX	TogoVar
PPP2R5C_chr14_101756709_101932977	101782481	CCTCTCCC others(113): Show CCTCTCCCCCTTCCCCTCCCTCTCTTTCCTCTTTCTCTCTCCCCCTCCCC CTCCCTCTCTCCTCCCTCTCTCTTTCTCCCCTTCCCTCTCTCTCCCCCCC TTTCTCCCCATTCCCCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	138	0.0073	-120	c.94- others(15): Show c.94-3512_94-3393del	PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
PRDM16_chr1_3064203_3443621	3146916	GGGGGTGT others(113): Show GGGGGTGTGTGTGCACGTGTGTGCTCAGTGTGGGGGGTATGTGTGCACGT GTGCTCGGTGTGGGGTGTGTGTGCATGTGTGTGCTTGGTGTGGGGGGTAT GCGCACGTGTGTGCTCGGTGT	G G	intron_variant intron_variant	MODIFIER	HG02602.hp2 NA18983.hp2 NA18990.hp1 HG02602.hp2 NA18983.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0070 a0001c0002t0018 a0001c0001t0001 a0001c0001t0070 a0001c0002t0018	a0001c0001t0001g0179 a0001c0001t0070g0100 a0001c0002t0018g0198 a0001c0001t0001g0179 a0001c0001t0070g0100 a0001c0002t0018g0198	3	210	0.0143	-120	c.38- others(17): Show c.38-39174_38-39055del	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3165394	AGGGCTCA others(113): Show AGGGCTCAGGGACAGTGACTCACCTGGGCTCAGGGACAGTGACTCACCTG GGCTCAGGGACAGTGACTCACCTGGGCTCAGGGACAGTGACTCACCTGGG CTCAGGGACAGGGACTCACCT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00423.hp2 others(42): Show HG00280.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00639.hp1 HG01069.hp1 HG01070.hp2 HG01081.hp2 HG01123.hp1 HG01169.hp2 HG01243.hp1 HG01255.hp1 HG01361.hp1 HG01496.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG02004.hp2 HG02056.hp2 HG02109.hp1 HG02132.hp2 HG02273.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp2 HG02647.hp1 HG02965.hp1 HG02965.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03516.hp1 HG03654.hp2 HG04204.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA19043.hp2 NA19074.hp2 NA19080.hp1 NA19091.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(9): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0009 a0001c0014 a0001c0021 a0001c0031 a0002c0003 a0002c0007 a0003c0005 a0003c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(37): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0022 a0001c0001t0023 a0001c0001t0028 a0001c0001t0058 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0016 a0001c0002t0017 a0001c0002t0036 a0001c0002t0084 a0001c0004t0007 a0001c0004t0010 a0001c0004t0081 a0001c0006t0011 a0001c0006t0013 a0001c0009t0005 a0001c0014t0030 a0001c0014t0068 a0001c0021t0049 a0001c0031t0037 a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0002c0003t0006 a0002c0003t0013 a0002c0003t0051 a0002c0007t0019 a0003c0005t0009 a0003c0011t0001	a0001c0001t0001g0119 a0001c0001t0001g0183 a0001c0001t0001g0190 others(42): Show a0001c0001t0001g0119 a0001c0001t0001g0183 a0001c0001t0001g0190 a0001c0001t0002g0086 a0001c0001t0002g0176 a0001c0001t0004g0046 a0001c0001t0005g0184 a0001c0001t0006g0155 a0001c0001t0007g0054 a0001c0001t0012g0041 a0001c0001t0014g0132 a0001c0001t0016g0035 a0001c0001t0018g0164 a0001c0001t0022g0061 a0001c0001t0023g0112 a0001c0001t0028g0111 a0001c0001t0058g0043 a0001c0002t0001g0095 a0001c0002t0001g0116 a0001c0002t0002g0091 a0001c0002t0003g0147 a0001c0002t0016g0195 a0001c0002t0017g0177 a0001c0002t0036g0157 a0001c0002t0084g0138 a0001c0004t0007g0063 a0001c0004t0010g0032 a0001c0004t0081g0031 a0001c0006t0011g0065 a0001c0006t0013g0133 a0001c0009t0005g0200 a0001c0014t0030g0178 a0001c0014t0068g0159 a0001c0021t0049g0023 a0001c0031t0037g0156 a0002c0003t0001g0018 a0002c0003t0002g0102 a0002c0003t0004g0123 a0002c0003t0006g0050 a0002c0003t0013g0137 a0002c0003t0051g0079 a0002c0007t0019g0020 a0003c0005t0009g0136 a0003c0011t0001g0056 a0003c0011t0001g0057	45	210	0.2143	-120	c.38- others(17): Show c.38-20692_38-20573del	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3165442	TGGGCTCA others(113): Show TGGGCTCAGGGACAGTGACTCACCTGGGCTCAGGGACAGTGACTCACCTG GGCTCAGGGACAGGGACTCACCTGGGCTCAGGGACAGTGACTCACCTGGG CTCAGGGACAGGGACTCACCA	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0171 a0003c0005t0001g0171	1	210	0.0048	-120	c.38- others(17): Show c.38-20668_38-20549del	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKAG2_chr7_151551127_151882115	151874177	TATGTATA others(113): Show TATGTATATGTATATGTATATGATGTATATGTATATGTATATGATGTATA TGTATATGATGTATATGTATATGTATATGATGTATATGTATATGTATATG ATATATATGTATATGTATATG	T T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0179 a0001c0002t0007g0179	1	252	0.0040	-120	c.114 others(17): Show c.114+2210_114+2329del	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRKCZ_chr1_2045411_2190395	2121830	GTGGTAGT others(113): Show GTGGTAGTTAGGTTCATGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCAC GGTGGTGGTTAGGGTCACGGTGGTAGTTAGGGTCACGGCTGTAGTTAGCG TCATGGTGGTGGTTAGGGTCA	G G	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18964.hp1 NA18945.hp2 NA18964.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0097 a0001c0002t0001g0101 a0001c0002t0001g0097 a0001c0002t0001g0101	2	286	0.0070	-120	c.335 others(19): Show c.335-13431_335-13312del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar
PRKG1_chr10_51069487_52303350	51553856	TATATAAT others(113): Show TATATAATATATGTATGTATTAGATACGTGTATATAATATATGTATGTAT TAGATACGTGTATATAATATATGTATGTATTAGATACGTGTATATAATAT ATGTATGTATTAGATACGTGC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0016 a0001c0003t0011g0016	1	64	0.0156	-120	c.592 others(19): Show c.592+86025_592+86144del	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKN_chr6_161342417_162732766	161350617	TATATATT others(113): Show TATATATTTTTATATATTTATATTTAAAATATATATATTTTTATATATTT ATATTTAAAATATATATATTTTTATATATTTATATTTAAAATATATATAT TTTTATATATTTATATTTAAA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03041.hp1 HG02647.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0007 a0001c0001t0008	a0001c0001t0007g0020 a0001c0001t0008g0010 a0001c0001t0007g0020 a0001c0001t0008g0010	2	32	0.0625	-120	c.128 others(17): Show c.1286-526_1286-407del	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	11/11			chr6	TogoVar
PROP1_chr5_177987235_178001242	177999070	CTCTGTAG others(113): Show CTCTGTAGAATACACATCCCAGAACTGCCAGGACACCTTCACTCTGCCAT ACTCTCACCCGTCTGTAGAATACACATCCCAGAACTGCCAGGACACCTTC ACTCTGCCATACTCTCACCCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02809.hp2 NA21309.hp1 HG02055.hp1 HG02809.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0005 a0001c0007t0001 a0001c0001t0005 a0001c0007t0001	a0001c0001t0005g0005 a0001c0007t0001g0019 a0001c0001t0005g0005 a0001c0007t0001g0019	3	436	0.0069	-120	c.-32 others(11): Show c.-3257_-3138del	PROP1	ENSG00000175325.2	transcript	ENST00000308304.2	protein_coding		2829		chr5	TogoVar
PTDSS2_chr11_445279_496399	459290	GTGAGGAC others(113): Show GTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACAC ACTCCGGTGGATGTAGGACCTGGGTTAGACGTGAGGACACACTCTGGTGG ATGTAGGACCTGGGTTAGACA	G G	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	346	0.0029	-120	c.183 others(15): Show c.183-890_183-771del	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTGR1_chr9_111557567_111604647	111560990	GAGAGAGA others(113): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGGTGGCAGTGAGTGGAGATCGC ACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTAAAATATA TATATATATATATATATATAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	408	0.0025	-120	c.20 others(11): Show c.2011_*2130del	PTGR1	ENSG00000106853.20	transcript	ENST00000407693.7	protein_coding		1576		chr9	TogoVar
PUM1_chr1_30926506_31070717	30972347	GGGAGGGG others(113): Show GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGAAGAGAAGAGAAGAGAAGA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02615.hp2 HG02965.hp1 others(2): Show HG00621.hp1 HG02615.hp2 HG02965.hp1 HG03486.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0005 a0001c0004t0002 a0001c0001t0002 a0001c0001t0005 a0001c0004t0002	a0001c0001t0002g0077 a0001c0001t0002g0200 a0001c0001t0002g0265 others(2): Show a0001c0001t0002g0077 a0001c0001t0002g0200 a0001c0001t0002g0265 a0001c0001t0005g0125 a0001c0004t0002g0177	5	334	0.0150	-120	c.150 others(19): Show c.1506+2184_1506+2303del	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21			chr1	TogoVar
RBBP6_chr16_24534566_24577863	24574324	CCTCACTT others(113): Show CCTCACTTCTCAGACGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCT CAGACGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGATGGGGC GGCTGCCGGGCGGAGGGGCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 NA19240.hp2 HG03139.hp2 NA19240.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0024 a0001c0008t0001g0024	2	336	0.0060	-120	c.18 others(11): Show c.1880_*1999del	RBBP6	ENSG00000122257.20	transcript	ENST00000319715.10	protein_coding		1462		chr16	TogoVar
RBBP6_chr16_24534566_24577863	24574338	CGGGGCGG others(113): Show CGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCT GCCGGGCGGAGGGGCTCCTCACTTCTCAGATGGGGCGGCTGCCGGGCGGA GGGGCTTCTCACTTCTCAGAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(112): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00558.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG02004.hp2 HG02083.hp2 HG02145.hp1 HG02280.hp2 HG02559.hp2 HG02572.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18906.hp1 NA18906.hp2 NA18952.hp1 NA18961.hp2 NA18981.hp1 NA18982.hp1 NA18999.hp2 NA19043.hp2 NA19068.hp2 NA19084.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp2	a0001 a0003 a0006 others(2): Show a0001 a0003 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0015 a0001c0018 a0001c0023 a0003c0009 a0006c0020 a0007c0021 a0008c0014	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 a0001c0003t0002 a0001c0004t0005 a0001c0006t0004 a0001c0007t0006 a0001c0015t0009 a0001c0018t0001 a0001c0023t0004 a0003c0009t0004 a0006c0020t0011 a0007c0021t0001 a0008c0014t0004	a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0001g0031 others(81): Show a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0002g0169 a0001c0002t0001g0009 a0001c0002t0001g0015 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0056 a0001c0002t0001g0058 a0001c0002t0001g0060 a0001c0002t0004g0017 a0001c0002t0004g0018 a0001c0002t0004g0019 a0001c0002t0004g0028 a0001c0002t0004g0061 a0001c0002t0004g0062 a0001c0002t0004g0065 a0001c0002t0004g0066 a0001c0002t0004g0068 a0001c0002t0004g0070 a0001c0002t0004g0073 a0001c0002t0004g0074 a0001c0002t0004g0075 a0001c0002t0004g0079 a0001c0002t0004g0083 a0001c0002t0004g0085 a0001c0002t0004g0090 a0001c0002t0004g0091 a0001c0002t0004g0094 a0001c0002t0004g0096 a0001c0002t0004g0097 a0001c0003t0001g0007 a0001c0003t0001g0014 a0001c0003t0001g0021 a0001c0003t0001g0025 a0001c0003t0001g0032 a0001c0003t0001g0041 a0001c0003t0001g0052 a0001c0003t0001g0055 a0001c0003t0001g0111 a0001c0003t0001g0151 a0001c0003t0001g0152 a0001c0003t0001g0153 a0001c0003t0001g0196 a0001c0003t0001g0197 a0001c0003t0001g0198 a0001c0003t0001g0199 a0001c0003t0001g0200 a0001c0003t0001g0202 a0001c0003t0001g0204 a0001c0003t0001g0205 a0001c0003t0001g0206 a0001c0003t0002g0185 a0001c0004t0005g0108 a0001c0006t0004g0010 a0001c0006t0004g0018 a0001c0007t0006g0022 a0001c0007t0006g0141 a0001c0015t0009g0049 a0001c0018t0001g0203 a0001c0023t0004g0010 a0003c0009t0004g0028 a0006c0020t0011g0155 a0007c0021t0001g0201 a0008c0014t0004g0082	115	336	0.3423	-120	c.18 others(11): Show c.1894_*2013del	RBBP6	ENSG00000122257.20	transcript	ENST00000319715.10	protein_coding		1476		chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7008944	CCCTCCCT others(113): Show CCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTC CTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCT CCCTTCCTCCCTCCCTCCCTT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02622.hp1 NA18522.hp2 others(1): Show HG01192.hp1 HG02622.hp1 NA18522.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0025 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0025 a0001c0001t0026	a0001c0001t0003g0049 a0001c0001t0004g0033 a0001c0001t0025g0048 others(1): Show a0001c0001t0003g0049 a0001c0001t0004g0033 a0001c0001t0025g0048 a0001c0001t0026g0051	4	68	0.0588	-120	c.-15 others(19): Show c.-15-43101_-15-42982del	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RERE_chr1_8347404_8822640	8668924	CTGTGTGT others(113): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTGTGTTTTTA AGACAGGGTCTCACTCTGTCTTCTGTGAATATTCTAAAATGCACTCAACT CTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02257.hp2 HG02818.hp1 others(2): Show HG02109.hp1 HG02257.hp2 HG02818.hp1 HG03209.hp1 HG03516.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0200 a0001c0005t0009g0201 a0001c0005t0009g0202 others(2): Show a0001c0005t0009g0200 a0001c0005t0009g0201 a0001c0005t0009g0202 a0001c0005t0009g0203 a0001c0005t0009g0204	5	204	0.0245	-120	c.-14 others(21): Show c.-144-12603_-144-12484del	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
RETREG1_chr5_16468053_16621997	16535744	AAAGTGGG others(113): Show AAAGTGGGAGCTGGGGTTCCTGTGTGCACGCTGCCTTCACGAAGTGGGAG CTGGGGTTCCTGTGTGCACGCTGCCTTCACGAAGTGGGAGCTGGGGTTCC TGTGTGCACGCTGCCTTCAGG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	294	0.0034	-120	c.458 others(19): Show c.458+29899_458+30018del	RETREG1	ENSG00000154153.15	transcript	ENST00000306320.10	protein_coding	3/8			chr5	TogoVar
RFLNA_chr12_124290093_124321024	124311270	TCTGCTAT others(113): Show TCTGCTATTCTGATCAGCTTCCTGTGCCCCTCGACAGGCCTGGCCAGCTC CCACCTGTGTGTTCCTCCCTGGCAGGTGTGCCACAGACACAGGTGTGGTG GGGTCTCTACCCCTCTGGAGG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG01070.hp1 others(70): Show HG00140.hp1 HG00280.hp1 HG01070.hp1 HG01071.hp1 HG01106.hp1 HG01192.hp2 HG01358.hp2 HG01884.hp1 HG01943.hp2 HG02129.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG03098.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03491.hp1 HG03492.hp1 HG03654.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18906.hp1 NA18939.hp1 NA18946.hp1 NA18947.hp2 NA18950.hp2 NA18951.hp2 NA18954.hp1 NA18959.hp1 NA18960.hp1 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18985.hp1 NA18994.hp2 NA19000.hp1 NA19010.hp2 NA19012.hp2 NA19043.hp2 NA19054.hp2 NA19057.hp1 NA19066.hp1 NA19066.hp2 NA19079.hp2 NA19081.hp2 NA20129.hp2 NA20805.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0002c0005 a0007c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0013 a0001c0001t0026 a0001c0002t0002 a0001c0002t0007 a0001c0002t0010 a0001c0002t0019 a0001c0002t0023 a0001c0002t0030 a0001c0002t0031 a0001c0003t0014 a0002c0005t0002 a0007c0008t0011	a0001c0001t0001g0293 a0001c0001t0002g0001 a0001c0001t0002g0013 others(67): Show a0001c0001t0001g0293 a0001c0001t0002g0001 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0125 a0001c0001t0002g0127 a0001c0001t0004g0282 a0001c0001t0004g0311 a0001c0001t0004g0358 a0001c0001t0006g0171 a0001c0001t0006g0198 a0001c0001t0006g0200 a0001c0001t0006g0202 a0001c0001t0011g0002 a0001c0001t0011g0049 a0001c0001t0011g0050 a0001c0001t0011g0056 a0001c0001t0011g0069 a0001c0001t0013g0023 a0001c0001t0013g0100 a0001c0001t0026g0342 a0001c0002t0002g0048 a0001c0002t0002g0067 a0001c0002t0002g0072 a0001c0002t0007g0003 a0001c0002t0007g0011 a0001c0002t0007g0024 a0001c0002t0007g0030 a0001c0002t0007g0051 a0001c0002t0007g0077 a0001c0002t0007g0079 a0001c0002t0007g0083 a0001c0002t0007g0093 a0001c0002t0007g0094 a0001c0002t0007g0098 a0001c0002t0007g0219 a0001c0002t0007g0370 a0001c0002t0007g0371 a0001c0002t0007g0372 a0001c0002t0007g0373 a0001c0002t0010g0143 a0001c0002t0010g0152 a0001c0002t0010g0168 a0001c0002t0010g0169 a0001c0002t0010g0172 a0001c0002t0010g0180 a0001c0002t0010g0368 a0001c0002t0019g0220 a0001c0002t0019g0225 a0001c0002t0023g0140 a0001c0002t0023g0141 a0001c0002t0030g0010 a0001c0002t0031g0369 a0001c0003t0014g0068 a0001c0003t0014g0071 a0001c0003t0014g0137 a0001c0003t0014g0224 a0001c0003t0014g0245 a0002c0005t0002g0022 a0007c0008t0011g0074	73	388	0.1881	-120	c.208 others(15): Show c.208-543_208-424del	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646209	CCCTCTCC others(113): Show CCCTCTCCACCTCCCTCACCACCTGCCTCTCCACCTCCCTCACCACTTCC CTCTCCACCTGCCTCACCACCTCCCTCACCACCTGCCTCTCCACCTCCCT CACCACTTCCCTCTCCACCTG	C C	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0048 a0001c0003t0001g0048	1	180	0.0056	-120	c.-35 others(21): Show c.-351-17873_-351-17754del	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RNF213_chr17_80255852_80403794	80260514	CCGGCGGC others(113): Show CCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGGCGGCGGCGGCGGGCAG GGCGGGGCCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGGCGGCGG CGGCGGGCAGGGCGGGGCCGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01167.hp1 HG01074.hp2 HG01167.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0009 a0002c0002t0005 a0002c0002t0009	a0002c0002t0005g0214 a0002c0002t0009g0215 a0002c0002t0005g0214 a0002c0002t0009g0215	2	292	0.0069	-120	c.-49 others(9): Show c.-496_-377del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding		337		chr17	TogoVar
RNF223_chr1_1065967_1079306	1077073	GCTACGGG others(113): Show GCTACGGGGACTCCGTGCCGGGAGGCTGAGGCTACGGGGACTCCGTGCGG GGAGGCTGAGTCTACGGGGACTCCGTGAGGGGTGGCTGAGTCTATGGGGA CTCCGTGCGGGGAGGCTGAGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0016 a0002c0002t0001g0016	1	324	0.0031	-120	c.-31 others(11): Show c.-3187_-3068del	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		2768		chr1	TogoVar
RNF223_chr1_1065967_1079306	1077509	GGGGGGAG others(113): Show GGGGGGAGGCTGAGTCTATGGGGACTCCGTGCCGAGAGGCTGAGTCTATG GGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGC TGAGTCTATGGGGACTCCGTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	-120	c.-36 others(11): Show c.-3623_-3504del	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		3204		chr1	TogoVar
RNF223_chr1_1065967_1079306	1077541	CGAGAGGC others(113): Show CGAGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGG GACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTTGGGGGAGGCTG AGGCTATGGGGACTCCGTTGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG01884.hp2 HG02109.hp2 others(6): Show HG00423.hp1 HG01884.hp2 HG02109.hp2 HG02257.hp2 HG02572.hp2 HG02886.hp1 HG02970.hp1 HG03139.hp2 NA19043.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0013	a0001c0001 a0002c0002 a0005c0025 others(1): Show a0001c0001 a0002c0002 a0005c0025 a0013c0017	a0001c0001t0001 a0001c0001t0004 a0002c0002t0006 others(2): Show a0001c0001t0001 a0001c0001t0004 a0002c0002t0006 a0005c0025t0006 a0013c0017t0006	a0001c0001t0001g0001 a0001c0001t0004g0005 a0002c0002t0006g0010 others(2): Show a0001c0001t0001g0001 a0001c0001t0004g0005 a0002c0002t0006g0010 a0005c0025t0006g0044 a0013c0017t0006g0041	9	324	0.0278	-120	c.-36 others(11): Show c.-3655_-3536del	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		3236		chr1	TogoVar
RNF223_chr1_1065967_1079306	1078205	AGGCTGAG others(113): Show AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGGGGGGAGGCTGCGTCTATGGGGACTCCGTGAGGGGTGGCTGAGGC TATGGGGACTCCGTGGGGGGA	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	324	0.0031	-120	c.-43 others(11): Show c.-4319_-4200del	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		3900		chr1	TogoVar
RNF223_chr1_1065967_1079306	1078741	GGGGAGGC others(113): Show GGGGAGGCTGAGGCTATGGGCACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGAGGGGTGGCTG AGGCTATGGGGACTCCGTGCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp1 HG02486.hp2 NA20300.hp1 others(1): Show HG02300.hp1 HG02486.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0002 a0001c0001t0001 a0002c0003t0002	a0001c0001t0001g0001 a0002c0003t0002g0003 a0001c0001t0001g0001 a0002c0003t0002g0003	4	324	0.0124	-120	c.-48 others(11): Show c.-4855_-4736del	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		4436		chr1	TogoVar
RNF223_chr1_1065967_1079306	1078861	CGGGAGGC others(113): Show CGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGCGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGTGGCTG AGGCTATGGGGACTCCGTGGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	324	0.0031	-120	c.-49 others(11): Show c.-4975_-4856del	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		4556		chr1	TogoVar
RPS6_chr9_19370715_19385236	19374966	TGGTTAAT others(113): Show TGGTTAATATAAAACTTTGGACCATAACACTGGACTCACCTTGTGGCTTT TAAGTTCCTCTCTCTGCTTGTGCTAAATTTTTTTTTTTTTTTTTTTTTGA GATGGGAGTCTTGCTCTGTCG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG01123.hp1 HG01358.hp2 others(3): Show HG00423.hp2 HG01123.hp1 HG01358.hp2 HG01952.hp1 HG01981.hp2 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	6	422	0.0142	-120	c.12 others(11): Show c.1207_*1326del	RPS6	ENSG00000137154.13	transcript	ENST00000380394.9	protein_coding		748		chr9	TogoVar
SARDH_chr9_133658560_133743352	133668531	CACCCTCC others(113): Show CACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCTC ACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCCCTCCCTCT CCCTCACCTTCCCTCTCCCCT	C C	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0002 a0003c0009t0002	a0003c0009t0002g0253 a0003c0009t0002g0253	1	262	0.0038	-120	c.249 others(19): Show c.2496-1781_2496-1662del	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SCAMP5_chr15_74990563_75026495	74990994	CTCTTTCT others(113): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0043 a0001c0002t0020g0043	1	370	0.0027	-120	c.-47 others(11): Show c.-4727_-4608del	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4568		chr15	TogoVar
SEPTIN5_chr22_19709503_19728319	19726614	CGCGGTGA others(113): Show CGCGGTGAGGACGCTGTGGACGCCGTGAGGACGCTGTGGGGGCGGTGAGG ACGCTGTCGGGGCGGTGAGGACGCTGTGGGGGCGGTGAGGGCGCTGTGGA CGCGGCGAGGGCGCTGTCGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp2 NA18985.hp2 NA19083.hp2 NA18961.hp2 NA18985.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0057 a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0057	3	384	0.0078	-120	c.41 others(11): Show c.4131_*4250del	SEPTIN5	ENSG00000184702.20	transcript	ENST00000455784.7	protein_coding		3296		chr22	TogoVar
SHC2_chr19_411589_466033	432464	CAGATAGA others(113): Show CAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGG AGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGA GATAGAGGAGGCCGGGCAGAT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0015 a0001c0005t0015	a0001c0005t0015g0008 a0001c0005t0015g0008	1	212	0.0047	-120	c.111 others(19): Show c.1111-1837_1111-1718del	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHISAL1_chr22_44238665_44317951	44302613	TAGCAGGG others(113): Show TAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGC AAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTG GGGTGGGTGCGGTGAGGAGGC	T T	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02056.hp2 HG02145.hp1 others(15): Show HG01168.hp2 HG02056.hp2 HG02145.hp1 HG02738.hp2 NA18942.hp2 NA18951.hp1 NA18955.hp2 NA18964.hp2 NA18975.hp1 NA18975.hp2 NA18981.hp2 NA18983.hp1 NA18990.hp1 NA19002.hp1 NA19010.hp2 NA19063.hp2 NA19067.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0015 a0001c0001t0086 a0001c0002t0001 a0001c0002t0006 a0001c0002t0012	a0001c0001t0001g0287 a0001c0001t0001g0349 a0001c0001t0002g0113 others(14): Show a0001c0001t0001g0287 a0001c0001t0001g0349 a0001c0001t0002g0113 a0001c0001t0002g0181 a0001c0001t0002g0260 a0001c0001t0003g0119 a0001c0001t0005g0145 a0001c0001t0006g0090 a0001c0001t0006g0180 a0001c0001t0008g0229 a0001c0001t0015g0288 a0001c0001t0086g0340 a0001c0002t0001g0182 a0001c0002t0001g0314 a0001c0002t0006g0010 a0001c0002t0006g0183 a0001c0002t0012g0031	18	380	0.0474	-120	c.-32 others(17): Show c.-32-1756_-32-1637del	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	1/4			chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44302803	GGTGAGGA others(113): Show GGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGG CAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGC AAAGGCCCTGGGGTGGGTGCA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03516.hp2 HG02451.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0082 a0001c0002t0003 a0001c0002t0082	a0001c0002t0003g0098 a0001c0002t0082g0121 a0001c0002t0003g0098 a0001c0002t0082g0121	2	380	0.0053	-120	c.-32 others(17): Show c.-32-1946_-32-1827del	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	1/4			chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44302827	GCCCTGGG others(113): Show GCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGT GGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGCAGTG AGGAGGCAGCAGGGGCAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02630.hp2 HG02647.hp1 others(11): Show HG01346.hp2 HG02630.hp2 HG02647.hp1 HG02922.hp1 HG02965.hp1 HG03098.hp2 HG03209.hp1 HG03209.hp2 HG03486.hp1 HG03540.hp1 HG06807.hp1 NA18522.hp2 NA19030.hp1 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0010 a0001c0001t0022 a0001c0001t0032 others(9): Show a0001c0001t0010 a0001c0001t0022 a0001c0001t0032 a0001c0001t0044 a0001c0001t0088 a0001c0002t0003 a0001c0002t0007 a0001c0002t0019 a0001c0002t0020 a0001c0002t0027 a0001c0002t0051 a0003c0005t0054	a0001c0001t0010g0243 a0001c0001t0010g0320 a0001c0001t0022g0140 others(11): Show a0001c0001t0010g0243 a0001c0001t0010g0320 a0001c0001t0022g0140 a0001c0001t0032g0125 a0001c0001t0044g0028 a0001c0001t0088g0136 a0001c0002t0003g0126 a0001c0002t0003g0128 a0001c0002t0007g0015 a0001c0002t0019g0336 a0001c0002t0020g0335 a0001c0002t0027g0129 a0001c0002t0051g0127 a0003c0005t0054g0135	14	380	0.0368	-120	c.-32 others(17): Show c.-32-1970_-32-1851del	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	1/4			chr22	TogoVar
SIGIRR_chr11_400716_419999	411198	GGTGCCCA others(113): Show GGTGCCCAGCTCTGAACATGTCTGGATACAGTCGGGGAGGGGTGCTCAGC TCTGACCATGTCTGGATACAGTCGGGGGGGGGGGGTGCCCAGCTCTGACC ATGTCTGGATACAGTCGGGGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01071.hp2 HG01993.hp2 HG00099.hp2 HG01071.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0096 a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0096	3	242	0.0124	-120	c.-15 others(19): Show c.-153-1291_-153-1172del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIGIRR_chr11_400716_419999	411595	CGGCGGGG others(113): Show CGGCGGGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGTGC CCAGCTCTGACCATGTCTGGATACAGTCGGTGGGGGTTGCCCAGCTCTGA CCATGTCTGGATACAGTCGGT	C C	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	242	0.0041	-120	c.-15 others(19): Show c.-153-1688_-153-1569del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SLC17A9_chr20_62947709_62974585	62960987	CCAGGGTG others(113): Show CCAGGGTGGGCCTATCAGCTGGCTGGAGGGCGGCTTGTCCTCAGGGTGGG CCTATCAGCTGGCTGGAGGGCGGCTTGTCCTCACGGTGGGCCTATCAGCT GGCTGGAGGGCGGCTTGTCCT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00741.hp2 HG01099.hp1 others(32): Show HG00738.hp2 HG00741.hp2 HG01099.hp1 HG01175.hp1 HG01257.hp1 HG01258.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG02258.hp1 HG02280.hp1 HG02486.hp2 HG02615.hp2 HG02717.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03098.hp1 HG03209.hp1 HG03471.hp2 HG03516.hp1 HG03669.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18944.hp1 NA18960.hp1 NA19030.hp1 NA19240.hp1 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0004 others(1): Show a0001c0001 a0001c0002 a0002c0004 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0012 a0001c0001t0016 a0001c0001t0020 a0001c0002t0002 a0002c0004t0003 a0004c0006t0009	a0001c0001t0001g0112 a0001c0001t0001g0125 a0001c0001t0001g0171 others(13): Show a0001c0001t0001g0112 a0001c0001t0001g0125 a0001c0001t0001g0171 a0001c0001t0001g0204 a0001c0001t0002g0041 a0001c0001t0002g0079 a0001c0001t0002g0178 a0001c0001t0005g0087 a0001c0001t0012g0037 a0001c0001t0012g0097 a0001c0001t0016g0038 a0001c0001t0020g0191 a0001c0002t0002g0011 a0001c0002t0002g0091 a0002c0004t0003g0004 a0004c0006t0009g0011	35	432	0.0810	-120	c.497 others(15): Show c.497+467_497+586del	SLC17A9	ENSG00000101194.18	transcript	ENST00000370351.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC6A13_chr12_215622_267836	258965	CCTTAAGA others(113): Show CCTTAAGACCACAGAACAGTTTGGTTATCAACGTCATCATCAGCAGAGCT ACTATTTATTACTTAAGACCACAGAACAGTTTGGTTATCAACGTCATCAT CAGCAGAGCTACTATTTATTA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02027.hp2 HG02155.hp1 others(14): Show HG00408.hp1 HG02027.hp2 HG02155.hp1 NA18957.hp1 NA18959.hp1 NA18961.hp1 NA18963.hp2 NA18982.hp1 NA18986.hp1 NA19003.hp1 NA19012.hp1 NA19058.hp1 NA19066.hp1 NA19079.hp2 NA19080.hp1 NA19086.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0198 a0001c0001t0001g0204 a0001c0001t0001g0205 others(14): Show a0001c0001t0001g0198 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0002t0001g0210 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0216 a0001c0002t0001g0218	17	442	0.0385	-120	c.202 others(15): Show c.202+766_202+885del	SLC6A13	ENSG00000010379.16	transcript	ENST00000343164.9	protein_coding	2/14			chr12	TogoVar
SLC6A13_chr12_215622_267836	259259	CTTATTAC others(113): Show CTTATTACTTAAGACCACAGAACAGTTTGGTTATCAACGTCATCATCAAC AGAGCTACTACTTATTACTTAAGACCACAGAACAGTTTGGTTATCAACGT CATCATCAGCAGAGCTACTAT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01243.hp1 HG02258.hp2 others(11): Show HG01074.hp1 HG01243.hp1 HG02258.hp2 HG02647.hp2 HG02896.hp1 HG02922.hp1 HG02970.hp1 HG02976.hp2 HG03516.hp1 NA18971.hp1 NA19060.hp2 NA19063.hp2 NA19064.hp2 NA20300.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0008 a0002c0003 others(2): Show a0001c0001 a0001c0008 a0002c0003 a0002c0007 a0005c0010	a0001c0001t0001 a0001c0008t0001 a0002c0003t0001 others(2): Show a0001c0001t0001 a0001c0008t0001 a0002c0003t0001 a0002c0007t0001 a0005c0010t0001	a0001c0001t0001g0030 a0001c0001t0001g0165 a0001c0001t0001g0168 others(9): Show a0001c0001t0001g0030 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0380 a0001c0001t0001g0381 a0001c0008t0001g0161 a0002c0003t0001g0014 a0002c0003t0001g0163 a0002c0003t0001g0166 a0002c0003t0001g0167 a0002c0007t0001g0164 a0005c0010t0001g0162	14	442	0.0317	-120	c.202 others(15): Show c.202+472_202+591del	SLC6A13	ENSG00000010379.16	transcript	ENST00000343164.9	protein_coding	2/14			chr12	TogoVar
SLC6A18_chr5_1220381_1251189	1242329	ACGTCCAC others(113): Show ACGTCCACACGATCCCAACAGGGGCAGGAGGCGTCCACACGATCCCAACA GGGGCAGGAGGCGTCCACACGATCCCAACAGGGGCAGGAGGCGTCCACAC GATCCCAACAGGGGCAGGAGG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02886.hp1 HG02976.hp1 others(3): Show HG02280.hp1 HG02886.hp1 HG02976.hp1 HG03098.hp2 HG03579.hp1 NA20129.hp1	a0011 a0016 a0018 others(1): Show a0011 a0016 a0018 a0026	a0011c0020 a0016c0032 a0018c0040 others(1): Show a0011c0020 a0016c0032 a0018c0040 a0026c0051	a0011c0020t0001 a0016c0032t0001 a0018c0040t0005 others(1): Show a0011c0020t0001 a0016c0032t0001 a0018c0040t0005 a0026c0051t0003	a0011c0020t0001g0130 a0011c0020t0001g0131 a0011c0020t0001g0299 others(3): Show a0011c0020t0001g0130 a0011c0020t0001g0131 a0011c0020t0001g0299 a0016c0032t0001g0175 a0018c0040t0005g0168 a0026c0051t0003g0190	6	456	0.0132	-120	c.975 others(15): Show c.975-257_975-138del	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC7A1_chr13_29504414_29600688	29559070	GGCAGAGT others(113): Show GGCAGAGTGAATCTGAATGAGGGGGGAGTGAATGTGAGTGAGGGGGAGTG AATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAGTG AGGGGGAGAGAATGTGAGTGA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG04228.hp2 HG01261.hp1 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0018 a0001c0002t0007g0020 a0001c0002t0007g0018 a0001c0002t0007g0020	2	330	0.0061	-120	c.-11 others(19): Show c.-114-5330_-114-5211del	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar

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