Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SFI1_chr22_31491536_31623588	31582236	A A	ATATTTTT others(8): Show ATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	77	0.0130	15	c.124 others(34): Show c.1249-1638_1249-1637insATTTTTTTTTTTTTT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	12/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31582237	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0184 a0003c0003t0001g0184	1	299	0.0033	15	c.124 others(34): Show c.1249-1638_1249-1637insATATATATATATATA	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	12/32			chr22	TogoVar
SFI1_chr22_31491536_31623588	31598716	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01106.hp2 HG02015.hp2 others(21): Show HG00673.hp2 HG01106.hp2 HG02015.hp2 HG02055.hp1 HG02056.hp1 HG02132.hp1 HG02132.hp2 HG02280.hp2 HG02717.hp1 HG03130.hp1 HG03453.hp2 HG03491.hp1 HG03669.hp2 HG03704.hp2 NA18940.hp1 NA18946.hp1 NA18953.hp2 NA18954.hp1 NA18970.hp1 NA19011.hp2 NA19066.hp1 NA19082.hp1 NA19089.hp2 NA19090.hp2	a0001 a0002 a0014 others(2): Show a0001 a0002 a0014 a0016 a0018	a0001c0001 a0002c0002 a0002c0044 others(3): Show a0001c0001 a0002c0002 a0002c0044 a0014c0015 a0016c0018 a0018c0014	a0001c0001t0001 a0002c0002t0001 a0002c0044t0003 others(3): Show a0001c0001t0001 a0002c0002t0001 a0002c0044t0003 a0014c0015t0001 a0016c0018t0001 a0018c0014t0001	a0001c0001t0001g0232 a0001c0001t0001g0237 a0001c0001t0001g0238 others(21): Show a0001c0001t0001g0232 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0243 a0002c0002t0001g0010 a0002c0002t0001g0026 a0002c0002t0001g0074 a0002c0002t0001g0086 a0002c0002t0001g0088 a0002c0002t0001g0093 a0002c0002t0001g0098 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0118 a0002c0002t0001g0121 a0002c0044t0003g0037 a0014c0015t0001g0062 a0016c0018t0001g0198 a0016c0018t0001g0201 a0018c0014t0001g0097	24	30	0.8000	15	c.154 others(34): Show c.1545-3487_1545-3473dupTTTTTTTTTTTTTTT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	15/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31598739	T T	TTTTTTTT others(8): Show TTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0076 a0002c0002t0001g0076	1	314	0.0032	15	c.154 others(34): Show c.1545-3473_1545-3472insTTTTTTTTTTTTTTG	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	15/32			chr22	TogoVar
SFI1_chr22_31491536_31623588	31612388	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0252 a0002c0002t0001g0252	1	317	0.0032	15	c.249 others(32): Show c.2490+548_2490+549insTATATATATATATAT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	24/32			chr22	TogoVar
SFI1_chr22_31491536_31623588	31612390	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0018 a0018	a0018c0014 a0018c0014	a0018c0014t0001 a0018c0014t0001	a0018c0014t0001g0097 a0018c0014t0001g0097	1	303	0.0033	15	c.249 others(32): Show c.2490+550_2490+551insTATATATATATATAT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	24/32			chr22	TogoVar
SFI1_chr22_31491536_31623588	31612392	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA18953.hp1 NA19067.hp1 HG00673.hp2 NA18953.hp1 NA19067.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0031 a0002c0002t0001g0077 a0002c0002t0001g0098 a0002c0002t0001g0031 a0002c0002t0001g0077 a0002c0002t0001g0098	3	284	0.0106	15	c.249 others(32): Show c.2490+552_2490+553insTATATATATATATAT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	24/32			chr22	TogoVar
SFI1_chr22_31491536_31623588	31612394	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02148.hp2 HG00609.hp2 HG02148.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0081 a0002c0002t0001g0091 a0002c0002t0001g0081 a0002c0002t0001g0091	2	262	0.0076	15	c.249 others(32): Show c.2490+554_2490+555insTATATATATATATAT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	24/32			chr22	TogoVar
SFMBT1_chr3_52898572_53051073	52945136	T T	TGAAAAAA others(8): Show TGAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03017.hp1 HG03239.hp2 others(6): Show HG02698.hp2 HG03017.hp1 HG03239.hp2 HG03491.hp2 HG03492.hp1 HG03669.hp2 HG03942.hp1 HG04184.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0272 a0001c0001t0002g0274 others(6): Show a0001c0001t0002g0154 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0280 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286	9	126	0.0714	15	c.124 others(32): Show c.124-1544_124-1543insTTTTTTTTTTTTTTC	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	3/20			chr3	TogoVar
SFMBT1_chr3_52898572_53051073	52948825	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00733.hp1 HG01255.hp1 others(5): Show HG00597.hp2 HG00733.hp1 HG01255.hp1 HG02015.hp1 HG04204.hp1 NA18747.hp1 NA18940.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008	a0001c0001t0004g0291 a0001c0001t0004g0292 a0001c0001t0004g0293 others(5): Show a0001c0001t0004g0291 a0001c0001t0004g0292 a0001c0001t0004g0293 a0001c0001t0004g0299 a0001c0001t0004g0309 a0001c0001t0004g0319 a0001c0001t0005g0171 a0001c0001t0008g0303	8	116	0.0690	15	c.124 others(32): Show c.124-5247_124-5233dupAAAAAAAAAAAAAAA	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	3/20			chr3	TogoVar
SFMBT1_chr3_52898572_53051073	52949568	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	173	0.0058	15	c.123 others(32): Show c.123+4734_123+4748dupAAAAAAAAAAAAAAA	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	3/20			chr3	TogoVar
SFMBT1_chr3_52898572_53051073	52962808	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02717.hp2 HG02257.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0004 a0001c0001t0007	a0001c0001t0004g0302 a0001c0001t0007g0170 a0001c0001t0004g0302 a0001c0001t0007g0170	2	9	0.2222	15	c.28+ others(30): Show c.28+6278_28+6292dupTTTTTTTTTTTTTTT	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	2/20			chr3	TogoVar
SFMBT1_chr3_52898572_53051073	52982729	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02922.hp2 HG02976.hp2 others(4): Show HG02630.hp1 HG02922.hp2 HG02976.hp2 HG03139.hp2 NA19030.hp2 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 others(4): Show a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164	7	41	0.1707	15	c.-13 others(36): Show c.-130-13486_-130-13472dupTTTTTTTTTTTTTTT	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	1/20			chr3	TogoVar
SFMBT1_chr3_52898572_53051073	53040968	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	51	0.0196	15	c.-13 others(34): Show c.-131+4833_-131+4847dupAAAAAAAAAAAAAAA	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	1/20			chr3	TogoVar
SFMBT2_chr10_7153624_7416034	7257098	A A	AAGGGGAG others(8): Show AAGGGGAGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02723.hp1 HG03195.hp2 others(1): Show HG02451.hp2 HG02723.hp1 HG03195.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0013 a0001c0001t0014 others(1): Show a0001c0001t0003 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017	a0001c0001t0003g0093 a0001c0001t0013g0116 a0001c0001t0014g0097 others(1): Show a0001c0001t0003g0093 a0001c0001t0013g0116 a0001c0001t0014g0097 a0001c0001t0017g0021	4	25	0.1600	15	c.871 others(32): Show c.871-8464_871-8450dupCCCCTCCCCTCCCCT	SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	7/20			chr10	TogoVar
SFMBT2_chr10_7153624_7416034	7263228	A A	ATTTCTTT others(8): Show ATTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG02897.hp2 NA18906.hp1 HG02897.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0067 a0001c0001t0010g0091 a0001c0001t0002g0067 a0001c0001t0010g0091	2	135	0.0148	15	c.870 others(34): Show c.870+13649_870+13663dupAGAAAAGAAAAGAAA	SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	7/20			chr10	TogoVar
SFMBT2_chr10_7153624_7416034	7315109	A A	AAAGAAAG others(8): Show AAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0053 a0001c0001t0014g0053	1	140	0.0071	15	c.437 others(34): Show c.437-29156_437-29155insCTTTCTTTCTTTCTT	SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	4/20			chr10	TogoVar
SFMBT2_chr10_7153624_7416034	7346988	T T	TCAAAACA others(8): Show TCAAAACAAAACAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0122	1	104	0.0096	15	c.436 others(34): Show c.436+20646_436+20660dupTTTTGTTTTGTTTTG	SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	4/20			chr10	TogoVar
SFRP2_chr4_153775591_153794083	153789505	G G	GTGTGTGT others(8): Show GTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp2 NA19083.hp1 NA19088.hp2 NA19076.hp2 NA19083.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0002 a0001c0001t0001g0008	3	23	0.1304	15	c.-67 others(24): Show c.-671_-670insACACACACACACACA	SFRP2	ENSG00000145423.5	transcript	ENST00000274063.5	protein_coding		423		chr4	TogoVar
SFSWAP_chr12_131706090_131804738	131738885	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG02004.hp2 others(7): Show HG00140.hp2 HG00280.hp2 HG02004.hp2 HG02056.hp1 HG02809.hp1 HG03831.hp2 HG03927.hp2 NA18941.hp2 NA18967.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0109 a0001c0001t0001g0144 others(7): Show a0001c0001t0001g0103 a0001c0001t0001g0109 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0230	10	40	0.2500	15	c.108 others(36): Show c.1081+10467_1081+10481dupTTTTTTTTTTTTTTT	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SFT2D1_chr6_166314728_166347545	166314867	A A	ATATATAT others(8): Show ATATATATATATATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG02965.hp2 HG02976.hp2 others(1): Show HG01515.hp2 HG02965.hp2 HG02976.hp2 NA18959.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0005 a0001c0002t0002g0025 a0001c0002t0002g0053 a0001c0002t0002g0005 a0001c0002t0002g0025 a0001c0002t0002g0053	4	176	0.0227	15	c.53 others(26): Show c.5349_*5350insAAATATATATATATA	SFT2D1	ENSG00000198818.10	transcript	ENST00000361731.4	protein_coding		4860		chr6	TogoVar
SFT2D1_chr6_166314728_166347545	166314867	A A	ATATATAT others(8): Show ATATATATATATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG02723.hp2 HG03225.hp1 others(1): Show HG01081.hp1 HG02723.hp2 HG03225.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0005 a0001c0002t0002g0026 a0001c0002t0002g0005 a0001c0002t0002g0026	4	176	0.0227	15	c.53 others(26): Show c.5349_*5350insAAAAATATATATATA	SFT2D1	ENSG00000198818.10	transcript	ENST00000361731.4	protein_coding		4860		chr6	TogoVar
SFT2D1_chr6_166314728_166347545	166314867	A A	ATATATAT others(8): Show ATATATATATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0178 a0001c0002t0002g0178	1	173	0.0058	15	c.53 others(26): Show c.5349_*5350insAAAAAAATATATATA	SFT2D1	ENSG00000198818.10	transcript	ENST00000361731.4	protein_coding		4860		chr6	TogoVar
SFT2D1_chr6_166314728_166347545	166314868	T T	TATATATA others(8): Show TATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	338	0.0030	15	c.53 others(26): Show c.5348_*5349insTATATATATATATAT	SFT2D1	ENSG00000198818.10	transcript	ENST00000361731.4	protein_coding		4859		chr6	TogoVar
SFT2D3_chr2_127696497_127710242	127700138	A A	ATATATAT others(8): Show ATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0000 a0003c0003t0003g0000	1	223	0.0045	15	c.-13 others(26): Show c.-1391_-1390insTATATATATATATAT	SFT2D3	ENSG00000173349.6	transcript	ENST00000310981.6	protein_coding		1358		chr2	TogoVar
SFT2D3_chr2_127696497_127710242	127700138	A A	ATATATAT others(8): Show ATATATATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0022 a0002c0002t0022	a0002c0002t0022g0000 a0002c0002t0022g0000	1	223	0.0045	15	c.-13 others(26): Show c.-1391_-1390insTATATATATATATTT	SFT2D3	ENSG00000173349.6	transcript	ENST00000310981.6	protein_coding		1358		chr2	TogoVar
SFT2D3_chr2_127696497_127710242	127700138	A A	ATATATAT others(8): Show ATATATATATATTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG03704.hp2 NA18952.hp2 others(1): Show HG02602.hp2 HG03704.hp2 NA18952.hp2 NA19056.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0000 a0003c0003t0003g0000	4	226	0.0177	15	c.-13 others(26): Show c.-1391_-1390insTATATATATATTTTT	SFT2D3	ENSG00000173349.6	transcript	ENST00000310981.6	protein_coding		1358		chr2	TogoVar
SFT2D3_chr2_127696497_127710242	127700138	A A	ATATATAT others(8): Show ATATATATATTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp2 NA18964.hp2 NA18981.hp2 others(1): Show NA18942.hp2 NA18964.hp2 NA18981.hp2 NA18997.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0000 a0003c0003t0003g0000	4	226	0.0177	15	c.-13 others(26): Show c.-1391_-1390insTATATATATTTTTTT	SFT2D3	ENSG00000173349.6	transcript	ENST00000310981.6	protein_coding		1358		chr2	TogoVar
SFTPD_chr10_79932740_79954105	79933422	T T	TTTATTAT others(8): Show TTTATTATTATTATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG01070.hp2 HG01081.hp1 others(34): Show HG00544.hp2 HG01070.hp2 HG01081.hp1 HG01109.hp2 HG01123.hp1 HG01243.hp1 HG01433.hp1 HG01891.hp1 HG01891.hp2 HG02165.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02976.hp1 HG03041.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03453.hp1 HG03516.hp2 HG03579.hp2 NA18522.hp1 NA18612.hp1 NA18942.hp1 NA18954.hp2 NA18971.hp2 NA18975.hp1 NA19004.hp2 NA19009.hp1 NA19030.hp1 NA19063.hp1 NA19082.hp2 NA19086.hp1 NA20129.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0009	a0001c0001 a0002c0003 a0002c0005 others(2): Show a0001c0001 a0002c0003 a0002c0005 a0004c0004 a0009c0019	a0001c0001t0001 a0002c0003t0001 a0002c0005t0001 others(2): Show a0001c0001t0001 a0002c0003t0001 a0002c0005t0001 a0004c0004t0001 a0009c0019t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0008 others(8): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0032 a0002c0003t0001g0005 a0002c0003t0001g0024 a0002c0005t0001g0014 a0002c0005t0001g0025 a0004c0004t0001g0007 a0009c0019t0001g0048	37	154	0.2403	15	c.44 others(26): Show c.4429_*4430insTAATAATAATAATAA	SFTPD	ENSG00000133661.17	transcript	ENST00000372292.8	protein_coding		4317		chr10	TogoVar
SFTPD_chr10_79932740_79954105	79937621	G G	GATACTTT others(8): Show GATACTTTTATCCCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0027 a0003c0002t0001g0027	1	422	0.0024	15	c.23 others(24): Show c.230_*231insTAGGGATAAAAGTAT	SFTPD	ENSG00000133661.17	transcript	ENST00000372292.8	protein_coding		118		chr10	TogoVar
SFXN1_chr5_175473560_175534742	175505537	C C	CAATAATA others(8): Show CAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00544.hp2 HG01433.hp1 others(16): Show HG00140.hp1 HG00544.hp2 HG01433.hp1 HG02165.hp1 HG02300.hp2 HG02698.hp1 HG03017.hp1 HG03098.hp1 HG03688.hp1 HG04184.hp2 NA18612.hp2 NA18747.hp2 NA18968.hp2 NA18981.hp1 NA18988.hp2 NA19005.hp2 NA19012.hp2 NA20752.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0016 a0001c0001t0025 a0001c0001t0048 a0001c0001t0058 a0001c0003t0007	a0001c0001t0001g0028 a0001c0001t0001g0037 a0001c0001t0001g0055 others(16): Show a0001c0001t0001g0028 a0001c0001t0001g0037 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0003g0099 a0001c0001t0010g0123 a0001c0001t0016g0080 a0001c0001t0016g0139 a0001c0001t0025g0133 a0001c0001t0048g0018 a0001c0001t0058g0036 a0001c0003t0007g0140	19	91	0.2088	15	c.165 others(32): Show c.165-3473_165-3459dupAATAATAATAATAAT	SFXN1	ENSG00000164466.13	transcript	ENST00000321442.10	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
SFXN1_chr5_175473560_175534742	175529883	A A	AACCACAC others(8): Show AACCACACCTGTTTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0347 a0001c0002t0002g0347	1	370	0.0027	15	c.31 others(26): Show c.3149_*3150insACCACACCTGTTTGG	SFXN1	ENSG00000164466.13	transcript	ENST00000321442.10	protein_coding		142		chr5	TogoVar
SFXN1_chr5_175473560_175534742	175531746	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG02165.hp1 NA18971.hp1 HG01099.hp2 HG02165.hp1 NA18971.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0070 a0001c0003t0007g0140 a0001c0003t0007g0231 a0001c0003t0007g0070 a0001c0003t0007g0140 a0001c0003t0007g0231	3	147	0.0204	15	c.50 others(26): Show c.5012_*5013insTTTTTTTTTTTTTTT	SFXN1	ENSG00000164466.13	transcript	ENST00000321442.10	protein_coding		2005		chr5	TogoVar
SFXN4_chr10_119135767_119170714	119135791	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01517.hp1 NA18946.hp1 others(7): Show HG01515.hp1 HG01517.hp1 NA18946.hp1 NA18977.hp1 NA18978.hp1 NA19057.hp2 NA19067.hp1 NA19078.hp1 NA19089.hp2 NA20129.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0009 a0001c0001 a0001c0002 a0005c0009	a0001c0001t0001 a0001c0002t0001 a0005c0009t0001 a0001c0001t0001 a0001c0002t0001 a0005c0009t0001	a0001c0001t0001g0044 a0001c0001t0001g0062 a0001c0001t0001g0069 others(7): Show a0001c0001t0001g0044 a0001c0001t0001g0062 a0001c0001t0001g0069 a0001c0002t0001g0050 a0001c0002t0001g0053 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0118 a0001c0002t0001g0359 a0005c0009t0001g0099	10	14	0.7143	15	c.54 others(26): Show c.5436_*5450dupTTTTTTTTTTTTTTT	SFXN4	ENSG00000183605.17	transcript	ENST00000355697.7	protein_coding		4975		chr10	TogoVar
SFXN5_chr2_72937036_73076712	73039776	C C	CTATTTTA others(8): Show CTATTTTATTTTATTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02615.hp2 HG02630.hp2 others(4): Show HG02145.hp2 HG02615.hp2 HG02630.hp2 HG03041.hp2 HG03540.hp1 NA18993.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0013 others(1): Show a0001c0001 a0001c0002 a0001c0013 a0001c0014	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0002t0001 a0001c0002t0004 a0001c0013t0015 a0001c0014t0003	a0001c0001t0002g0033 a0001c0001t0003g0008 a0001c0001t0011g0009 others(4): Show a0001c0001t0002g0033 a0001c0001t0003g0008 a0001c0001t0011g0009 a0001c0002t0001g0220 a0001c0002t0004g0006 a0001c0013t0015g0079 a0001c0014t0003g0005	7	50	0.1400	15	c.249 others(32): Show c.249+1063_249+1077dupAAATAAAATAAAATA	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	3/13			chr2	TogoVar
SGCB_chr4_52015706_52043299	52034331	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	4	0.2500	15	c.34- others(28): Show c.34-706_34-692dupTTTTTTTTTTTTTTT	SGCB	ENSG00000163069.13	transcript	ENST00000381431.10	protein_coding	1/5			chr4	TogoVar
SGCD_chr5_156322164_156772788	156444116	C C	CTCTCTCT others(8): Show CTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0109 a0001c0002t0002g0109	1	110	0.0091	15	c.193 others(34): Show c.193-64485_193-64484insTCTCTCTCTCTCTCT	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8			chr5	TogoVar
SGCD_chr5_156322164_156772788	156653493	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01081.hp1 HG02071.hp2 others(28): Show HG00558.hp1 HG01081.hp1 HG02071.hp2 HG02129.hp1 HG02155.hp1 HG02258.hp2 HG02698.hp1 HG02723.hp1 HG02897.hp2 HG02922.hp1 HG03139.hp1 HG03139.hp2 HG03225.hp2 HG03453.hp2 HG03490.hp1 HG03579.hp1 HG03704.hp1 NA18522.hp1 NA18906.hp1 NA18953.hp2 NA18964.hp1 NA18966.hp2 NA19003.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19043.hp2 NA19057.hp1 NA19090.hp2 NA19240.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(13): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0014 a0001c0001t0033 a0001c0001t0036 a0001c0001t0037 a0001c0002t0002 a0001c0002t0008 a0001c0002t0011 a0001c0002t0015 a0001c0002t0052 a0001c0002t0056 a0001c0002t0061 a0001c0004t0001	a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0025 others(28): Show a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0143 a0001c0001t0003g0013 a0001c0001t0003g0018 a0001c0001t0003g0022 a0001c0001t0003g0136 a0001c0001t0006g0037 a0001c0001t0009g0049 a0001c0001t0014g0048 a0001c0001t0033g0141 a0001c0001t0036g0043 a0001c0001t0037g0042 a0001c0002t0002g0062 a0001c0002t0002g0069 a0001c0002t0002g0075 a0001c0002t0002g0077 a0001c0002t0002g0087 a0001c0002t0002g0093 a0001c0002t0002g0098 a0001c0002t0002g0102 a0001c0002t0002g0107 a0001c0002t0008g0076 a0001c0002t0011g0051 a0001c0002t0015g0078 a0001c0002t0015g0081 a0001c0002t0052g0111 a0001c0002t0056g0096 a0001c0002t0061g0103 a0001c0004t0001g0009	31	40	0.7750	15	c.575 others(32): Show c.575+5958_575+5972dupTTTTTTTTTTTTTTT	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCE_chr7_94579980_94661133	94601443	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	54	0.0185	15	c.826 others(30): Show c.826-601_826-587dupTTTTTTTTTTTTTTT	SGCE	ENSG00000127990.19	transcript	ENST00000648936.2	protein_coding	6/10			chr7	TogoVar
SGCE_chr7_94579980_94661133	94648376	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02300.hp2 NA18985.hp1 others(1): Show HG01169.hp1 HG02300.hp2 NA18985.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0275 others(1): Show a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0275 a0001c0001t0001g0318	4	95	0.0421	15	c.109 others(32): Show c.109+7599_109+7613dupTTTTTTTTTTTTTTT	SGCE	ENSG00000127990.19	transcript	ENST00000648936.2	protein_coding	1/10			chr7	TogoVar
SGCG_chr13_23175979_23330162	23292119	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG03491.hp1 NA20300.hp2 HG02080.hp2 HG03491.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0002 a0001c0003t0004 a0001c0005t0020 a0001c0001t0002 a0001c0003t0004 a0001c0005t0020	a0001c0001t0002g0304 a0001c0003t0004g0037 a0001c0005t0020g0112 a0001c0001t0002g0304 a0001c0003t0004g0037 a0001c0005t0020g0112	3	283	0.0106	15	c.506 others(32): Show c.506-3288_506-3287insTTTTTTTTTTTTTTT	SGCG	ENSG00000102683.8	transcript	ENST00000218867.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
SGCG_chr13_23175979_23330162	23299454	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0002 a0003c0011t0002	a0003c0011t0002g0089 a0003c0011t0002g0089	1	53	0.0189	15	c.578 others(32): Show c.578+3968_578+3969insTTTTTTTTTTTTTTT	SGCG	ENSG00000102683.8	transcript	ENST00000218867.4	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
SGCG_chr13_23175979_23330162	23299456	A A	ATATTTTT others(8): Show ATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01515.hp1 NA18971.hp2 others(1): Show HG01099.hp1 HG01515.hp1 NA18971.hp2 NA19064.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0004 a0001c0004t0002 a0001c0004t0004 others(1): Show a0001c0003t0004 a0001c0004t0002 a0001c0004t0004 a0001c0004t0007	a0001c0003t0004g0257 a0001c0004t0002g0329 a0001c0004t0004g0039 others(1): Show a0001c0003t0004g0257 a0001c0004t0002g0329 a0001c0004t0004g0039 a0001c0004t0007g0116	4	15	0.2667	15	c.578 others(32): Show c.578+3970_578+3971insATTTTTTTTTTTTTT	SGCG	ENSG00000102683.8	transcript	ENST00000218867.4	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
SGCG_chr13_23175979_23330162	23314408	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0008 a0001c0007t0008	a0001c0007t0008g0332 a0001c0007t0008g0332	1	351	0.0028	15	c.579 others(32): Show c.579-6229_579-6228insTATATATATATATAT	SGCG	ENSG00000102683.8	transcript	ENST00000218867.4	protein_coding	6/7			chr13	TogoVar
SGCZ_chr8_14079845_15243431	14177940	C C	CTTCTTTT others(8): Show CTTCTTTTCTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00642.hp1 HG01192.hp1 others(24): Show HG00438.hp1 HG00642.hp1 HG01192.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG01978.hp1 HG01993.hp1 HG02132.hp2 HG02135.hp2 HG02486.hp2 HG02630.hp2 HG02717.hp1 HG03209.hp1 HG03486.hp1 HG03486.hp2 HG03942.hp2 HG04204.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18951.hp1 NA18959.hp1 NA18959.hp2 NA19000.hp1 NA19056.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(20): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0013 a0001c0001t0016 a0001c0001t0018 a0001c0001t0024 a0001c0001t0026 a0001c0001t0033 a0001c0001t0037 a0001c0001t0044 a0001c0001t0045 a0001c0001t0051 a0001c0001t0052 a0001c0001t0065 a0001c0001t0066 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0088 a0001c0001t0090	a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0080 others(24): Show a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0092 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0006g0083 a0001c0001t0010g0002 a0001c0001t0013g0026 a0001c0001t0016g0022 a0001c0001t0018g0037 a0001c0001t0024g0031 a0001c0001t0026g0035 a0001c0001t0033g0003 a0001c0001t0037g0032 a0001c0001t0044g0033 a0001c0001t0045g0008 a0001c0001t0051g0074 a0001c0001t0052g0077 a0001c0001t0065g0047 a0001c0001t0066g0099 a0001c0001t0068g0064 a0001c0001t0069g0096 a0001c0001t0070g0081 a0001c0001t0071g0067 a0001c0001t0088g0054 a0001c0001t0090g0084	27	102	0.2647	15	c.425 others(34): Show c.425-13253_425-13239dupAAAAAAAGAAAAGAA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	4/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14326111	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01081.hp2 HG01109.hp2 others(13): Show HG00438.hp2 HG01081.hp2 HG01109.hp2 HG01258.hp1 HG02055.hp2 HG02132.hp2 HG02135.hp2 HG02280.hp2 HG02622.hp2 HG02976.hp2 HG03139.hp2 HG03486.hp1 HG03540.hp2 HG03942.hp1 NA19000.hp1 NA19000.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0005 a0001c0001t0016 others(12): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0016 a0001c0001t0017 a0001c0001t0028 a0001c0001t0031 a0001c0001t0042 a0001c0001t0054 a0001c0001t0059 a0001c0001t0068 a0001c0001t0070 a0001c0001t0071 a0001c0001t0075 a0001c0001t0080 a0002c0002t0009	a0001c0001t0002g0079 a0001c0001t0002g0086 a0001c0001t0005g0090 others(13): Show a0001c0001t0002g0079 a0001c0001t0002g0086 a0001c0001t0005g0090 a0001c0001t0016g0022 a0001c0001t0017g0011 a0001c0001t0028g0006 a0001c0001t0031g0013 a0001c0001t0042g0040 a0001c0001t0054g0058 a0001c0001t0059g0056 a0001c0001t0068g0064 a0001c0001t0070g0081 a0001c0001t0071g0067 a0001c0001t0075g0044 a0001c0001t0080g0089 a0002c0002t0009g0001	16	35	0.4571	15	c.235 others(32): Show c.235-1922_235-1908dupTTTTTTTTTTTTTTT	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	2/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14464222	C C	CCACTGGT others(8): Show CCACTGGTGAAGCCAT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0061 a0001c0001t0008g0061	1	102	0.0098	15	c.234 others(34): Show c.234+90495_234+90509dupATGGCTTCACCAGTG	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	2/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14479731	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0051 a0001c0001t0048g0051	1	66	0.0152	15	c.234 others(34): Show c.234+74986_234+75000dupAAAAAAAAAAAAAAA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	2/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14485833	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0067 a0001c0001t0071g0067	1	3	0.3333	15	c.234 others(34): Show c.234+68884_234+68898dupAAAAAAAAAAAAAAA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	2/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14493359	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp2 NA18612.hp2 HG01346.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0067 a0001c0001t0010 a0001c0001t0067	a0001c0001t0010g0002 a0001c0001t0067g0068 a0001c0001t0010g0002 a0001c0001t0067g0068	2	6	0.3333	15	c.234 others(34): Show c.234+61358_234+61372dupAAAAAAAAAAAAAAA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	2/7			chr8	TogoVar

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