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
SARDH_chr9_133658560_133743352	133726368	A A	AAATAATA others(23): Show AAATAATAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02922.hp2 HG00140.hp2 HG02922.hp2	a0001 a0003 a0001 a0003	a0001c0055 a0003c0003 a0001c0055 a0003c0003	a0001c0055t0001 a0003c0003t0001 a0001c0055t0001 a0003c0003t0001	a0001c0055t0001g0154 a0003c0003t0001g0055 a0001c0055t0001g0154 a0003c0003t0001g0055	2	145	0.0138	30	c.915 others(47): Show c.915+3396_915+3397insATTATTATTATTATTATTATTATTATTA TT	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	6/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133726394	A A	ATAATAAT others(23): Show ATAATAATAATAATAATAATAATAATAATAG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01496.hp2 HG02135.hp2 others(9): Show HG01106.hp2 HG01496.hp2 HG02135.hp2 HG02723.hp1 HG03710.hp2 HG04184.hp2 NA18945.hp1 NA18974.hp1 NA19059.hp1 NA19084.hp2 NA19240.hp2 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0006 a0002c0004 others(5): Show a0001c0001 a0001c0006 a0002c0004 a0002c0008 a0002c0010 a0002c0015 a0003c0022 a0003c0032	a0001c0001t0001 a0001c0006t0001 a0002c0004t0001 others(5): Show a0001c0001t0001 a0001c0006t0001 a0002c0004t0001 a0002c0008t0001 a0002c0010t0001 a0002c0015t0001 a0003c0022t0002 a0003c0032t0001	a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0164 others(9): Show a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0164 a0001c0006t0001g0025 a0002c0004t0001g0013 a0002c0004t0001g0027 a0002c0004t0001g0137 a0002c0008t0001g0026 a0002c0010t0001g0138 a0002c0015t0001g0121 a0003c0022t0002g0252 a0003c0032t0001g0155	12	132	0.0909	30	c.915 others(47): Show c.915+3370_915+3371insCTATTATTATTATTATTATTATTATTAT TA	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	6/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133726394	A A	ATAATAAT others(23): Show ATAATAATAATAATAATAATAATAATAGTAG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02735.hp2 HG01109.hp2 HG02735.hp2	a0002 a0002	a0002c0021 a0002c0021	a0002c0021t0001 a0002c0021t0002 a0002c0021t0001 a0002c0021t0002	a0002c0021t0001g0149 a0002c0021t0002g0207 a0002c0021t0001g0149 a0002c0021t0002g0207	2	122	0.0164	30	c.915 others(47): Show c.915+3370_915+3371insCTACTATTATTATTATTATTATTATTAT TA	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	6/20			chr9	TogoVar
SASH1_chr6_148337838_148557044	148368768	G G	GTGCGCAC others(23): Show GTGCGCACGCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01884.hp2 HG02055.hp2 others(14): Show HG01516.hp1 HG01884.hp2 HG02055.hp2 HG02486.hp2 HG03139.hp2 HG03491.hp1 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03927.hp1 HG04115.hp1 HG04115.hp2 NA18959.hp2 NA19004.hp1 NA19056.hp1 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0007 a0001c0009 others(4): Show a0001c0001 a0001c0007 a0001c0009 a0002c0002 a0002c0004 a0003c0018 a0005c0026	a0001c0001t0002 a0001c0001t0009 a0001c0001t0017 others(10): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0017 a0001c0001t0020 a0001c0007t0006 a0001c0007t0022 a0001c0009t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0004t0004 a0003c0018t0004 a0005c0026t0001	a0001c0001t0002g0143 a0001c0001t0002g0221 a0001c0001t0002g0225 others(14): Show a0001c0001t0002g0143 a0001c0001t0002g0221 a0001c0001t0002g0225 a0001c0001t0002g0251 a0001c0001t0009g0173 a0001c0001t0017g0234 a0001c0001t0020g0170 a0001c0007t0006g0235 a0001c0007t0022g0233 a0001c0009t0004g0230 a0002c0002t0001g0216 a0002c0002t0002g0168 a0002c0002t0003g0020 a0002c0002t0003g0227 a0002c0004t0004g0232 a0003c0018t0004g0064 a0005c0026t0001g0263	17	257	0.0661	30	c.157 others(49): Show c.157-21366_157-21365insTGCGCACGCACACACACACACACACA CACA	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19			chr6	TogoVar
SASH1_chr6_148337838_148557044	148368768	G G	GTGCGCAC others(23): Show GTGCGCACGCGCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0223 a0001c0007t0002g0223	1	241	0.0041	30	c.157 others(49): Show c.157-21366_157-21365insTGCGCACGCGCACACACACACACACA CACA	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19			chr6	TogoVar
SASH1_chr6_148337838_148557044	148381617	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0026 a0001c0003t0026	a0001c0003t0026g0284 a0001c0003t0026g0284	1	77	0.0130	30	c.157 others(47): Show c.157-8491_157-8490insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148387564	T T	TCTTCTTT others(23): Show TCTTCTTTCTTTCTTTCTTCTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0003 a0003	a0003c0020 a0003c0020	a0003c0020t0002 a0003c0020t0002	a0003c0020t0002g0159 a0003c0020t0002g0159	1	318	0.0031	30	c.157 others(47): Show c.157-2570_157-2569insCTTCTTTCTTTCTTTCTTCTTCTTTCTT TC	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19			chr6	TogoVar
SASH1_chr6_148337838_148557044	148449078	C C	CTTTTTCT others(23): Show CTTTTTCTTTTTTTTTTTCTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02145.hp1 HG02723.hp1 others(3): Show HG00597.hp1 HG02145.hp1 HG02723.hp1 HG03486.hp1 NA18978.hp2 NA19010.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0005c0016	a0001c0001t0005 a0001c0001t0008 a0001c0003t0007 others(3): Show a0001c0001t0005 a0001c0001t0008 a0001c0003t0007 a0002c0002t0001 a0002c0002t0003 a0005c0016t0001	a0001c0001t0005g0256 a0001c0001t0008g0060 a0001c0003t0007g0218 others(3): Show a0001c0001t0005g0256 a0001c0001t0008g0060 a0001c0003t0007g0218 a0002c0002t0001g0153 a0002c0002t0003g0045 a0005c0016t0001g0246	6	123	0.0488	30	c.386 others(47): Show c.386+8676_386+8677insCTTTTTTTTTTTCTTTTTTTTTTTTTTT TT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148449078	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0023 a0002c0002t0002g0023	1	118	0.0085	30	c.386 others(47): Show c.386+8686_386+8687insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SATB2_chr2_199264505_199462939	199355215	A A	AGTGTGTA others(23): Show AGTGTGTATATATGTGTATATATACAAGGAT	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG02698.hp2 HG01517.hp1 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0168 a0001c0001t0001g0105 a0001c0001t0001g0168	2	251	0.0080	30	c.701 others(47): Show c.701-6072_701-6043dupATCCTTGTATATATACACATATATACAC AC	SATB2	ENSG00000119042.18	transcript	ENST00000417098.6	protein_coding	6/10			chr2	TogoVar
SATL1_chrX_85087284_85248779	85088095	T T	TATACATA others(23): Show TATACATATTTATACATATATGTATAAATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	226	0.0044	30	c.42 others(41): Show c.4266_*4295dupGTATTTATACATATATGTATAAATATGTAT	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding		4188		chrX	TogoVar
SATL1_chrX_85087284_85248779	85088169	C C	CATATATA others(23): Show CATATATATGTATAAATACATATTTATACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	185	0.0054	30	c.42 others(41): Show c.4221_*4222insATGTATAAATATGTATTTATACATATATAT	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding		4114		chrX	TogoVar
SATL1_chrX_85087284_85248779	85118087	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA18522.hp1 HG01891.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0101 a0001c0001t0001g0061 a0001c0001t0001g0101	2	135	0.0148	30	c.-31 others(49): Show c.-312-8808_-312-8807insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding	2/7			chrX	TogoVar
SAXO1_chr9_18922650_19038209	18926044	A A	AAGGGATG others(23): Show AAGGGATGGTGTATGAGAACCAAAATTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00408.hp1 others(164): Show HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00735.hp2 HG01081.hp2 HG01109.hp1 HG01167.hp2 HG01192.hp2 HG01243.hp2 HG01258.hp2 HG01346.hp1 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03704.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04204.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp2 NA18947.hp2 NA18954.hp1 NA18963.hp1 NA18972.hp2 NA18981.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19009.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19070.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19085.hp1 NA19086.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(17): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0010 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022	a0001c0001 a0002c0002 a0003c0003 others(20): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0004c0015 a0004c0016 a0006c0007 a0007c0008 a0008c0009 a0009c0010 a0010c0014 a0010c0020 a0012c0013 a0013c0011 a0014c0025 a0015c0022 a0016c0021 a0017c0024 a0018c0019 a0019c0023 a0020c0026 a0021c0018 a0022c0017	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(62): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0021 a0001c0001t0023 a0001c0001t0029 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0007 a0002c0002t0009 a0002c0002t0010 a0002c0002t0015 a0002c0002t0017 a0002c0002t0019 a0002c0002t0024 a0002c0002t0025 a0002c0002t0030 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0005 a0003c0003t0006 a0003c0003t0007 a0003c0003t0009 a0003c0003t0011 a0003c0003t0012 a0003c0003t0013 a0003c0003t0014 a0003c0003t0017 a0003c0003t0028 a0003c0003t0031 a0003c0003t0036 a0004c0004t0003 a0004c0004t0013 a0004c0004t0014 a0004c0015t0001 a0004c0016t0005 a0006c0007t0008 a0007c0008t0002 a0008c0009t0005 a0008c0009t0008 a0009c0010t0008 a0010c0014t0003 a0010c0014t0007 a0010c0020t0011 a0012c0013t0011 a0013c0011t0005 a0014c0025t0015 a0015c0022t0005 a0016c0021t0013 a0017c0024t0010 a0018c0019t0005 a0019c0023t0008 a0020c0026t0008 a0021c0018t0003 a0022c0017t0013	a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0290 others(163): Show a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0290 a0001c0001t0001g0320 a0001c0001t0001g0344 a0001c0001t0004g0030 a0001c0001t0004g0077 a0001c0001t0004g0084 a0001c0001t0005g0212 a0001c0001t0005g0213 a0001c0001t0005g0228 a0001c0001t0006g0119 a0001c0001t0006g0123 a0001c0001t0006g0124 a0001c0001t0006g0125 a0001c0001t0007g0275 a0001c0001t0007g0280 a0001c0001t0007g0300 a0001c0001t0009g0198 a0001c0001t0009g0199 a0001c0001t0009g0202 a0001c0001t0009g0203 a0001c0001t0009g0208 a0001c0001t0009g0216 a0001c0001t0009g0220 a0001c0001t0009g0221 a0001c0001t0009g0222 a0001c0001t0009g0223 a0001c0001t0009g0224 a0001c0001t0009g0226 a0001c0001t0010g0281 a0001c0001t0010g0282 a0001c0001t0010g0293 a0001c0001t0010g0295 a0001c0001t0010g0306 a0001c0001t0010g0316 a0001c0001t0010g0332 a0001c0001t0010g0333 a0001c0001t0010g0334 a0001c0001t0010g0335 a0001c0001t0010g0337 a0001c0001t0010g0342 a0001c0001t0012g0299 a0001c0001t0012g0310 a0001c0001t0012g0314 a0001c0001t0014g0097 a0001c0001t0015g0038 a0001c0001t0018g0238 a0001c0001t0018g0239 a0001c0001t0018g0240 a0001c0001t0021g0144 a0001c0001t0023g0005 a0001c0001t0029g0214 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0002g0034 a0002c0002t0002g0041 a0002c0002t0002g0057 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0067 a0002c0002t0002g0074 a0002c0002t0002g0081 a0002c0002t0002g0083 a0002c0002t0004g0017 a0002c0002t0004g0018 a0002c0002t0004g0019 a0002c0002t0004g0059 a0002c0002t0004g0075 a0002c0002t0007g0260 a0002c0002t0009g0150 a0002c0002t0009g0152 a0002c0002t0010g0249 a0002c0002t0010g0252 a0002c0002t0010g0258 a0002c0002t0015g0036 a0002c0002t0015g0037 a0002c0002t0015g0082 a0002c0002t0017g0114 a0002c0002t0019g0086 a0002c0002t0019g0087 a0002c0002t0024g0006 a0002c0002t0025g0014 a0002c0002t0030g0236 a0003c0003t0001g0303 a0003c0003t0001g0304 a0003c0003t0001g0343 a0003c0003t0002g0028 a0003c0003t0003g0149 a0003c0003t0003g0153 a0003c0003t0003g0154 a0003c0003t0003g0158 a0003c0003t0003g0160 a0003c0003t0003g0161 a0003c0003t0003g0162 a0003c0003t0003g0180 a0003c0003t0003g0181 a0003c0003t0003g0183 a0003c0003t0003g0184 a0003c0003t0003g0188 a0003c0003t0005g0168 a0003c0003t0005g0169 a0003c0003t0005g0170 a0003c0003t0005g0182 a0003c0003t0005g0186 a0003c0003t0005g0197 a0003c0003t0005g0218 a0003c0003t0005g0231 a0003c0003t0006g0135 a0003c0003t0006g0136 a0003c0003t0006g0138 a0003c0003t0006g0140 a0003c0003t0007g0346 a0003c0003t0009g0001 a0003c0003t0009g0173 a0003c0003t0011g0147 a0003c0003t0011g0156 a0003c0003t0011g0165 a0003c0003t0011g0235 a0003c0003t0012g0348 a0003c0003t0013g0009 a0003c0003t0013g0010 a0003c0003t0013g0011 a0003c0003t0013g0012 a0003c0003t0014g0100 a0003c0003t0017g0132 a0003c0003t0028g0101 a0003c0003t0031g0237 a0003c0003t0036g0360 a0004c0004t0003g0159 a0004c0004t0003g0192 a0004c0004t0003g0194 a0004c0004t0003g0232 a0004c0004t0013g0007 a0004c0004t0014g0096 a0004c0004t0014g0099 a0004c0004t0014g0103 a0004c0004t0014g0104 a0004c0015t0001g0349 a0004c0016t0005g0187 a0006c0007t0008g0107 a0006c0007t0008g0108 a0006c0007t0008g0109 a0007c0008t0002g0032 a0007c0008t0002g0033 a0007c0008t0002g0045 a0008c0009t0005g0179 a0008c0009t0005g0189 a0008c0009t0008g0134 a0009c0010t0008g0137 a0009c0010t0008g0139 a0010c0014t0003g0191 a0010c0014t0007g0301 a0010c0020t0011g0163 a0012c0013t0011g0230 a0012c0013t0011g0234 a0013c0011t0005g0166 a0014c0025t0015g0089 a0015c0022t0005g0190 a0016c0021t0013g0008 a0017c0024t0010g0330 a0018c0019t0005g0196 a0019c0023t0008g0133 a0020c0026t0008g0121 a0021c0018t0003g0148 a0022c0017t0013g0013	167	362	0.4613	30	c.20 others(41): Show c.2007_*2008insGAGGAATTTTGGTTCTCATACACCATCCCT	SAXO1	ENSG00000155875.15	transcript	ENST00000380534.9	protein_coding		1605		chr9	TogoVar
SBF2_chr11_9773668_10299219	9994577	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01243.hp1 HG01975.hp2 others(8): Show HG00673.hp2 HG01243.hp1 HG01975.hp2 HG01981.hp2 HG02486.hp2 HG03704.hp1 NA18946.hp1 NA18999.hp1 NA19068.hp2 NA19088.hp1 NA19240.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0002c0002t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0004 a0003c0004t0003	a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0003g0033 others(8): Show a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0003g0033 a0001c0001t0003g0042 a0001c0001t0003g0091 a0001c0001t0003g0177 a0001c0001t0003g0188 a0002c0002t0004g0009 a0003c0004t0003g0022 a0003c0004t0003g0027 a0003c0004t0003g0068	11	149	0.0738	30	c.976 others(45): Show c.976-580_976-579insATATATATATATATATATATATATATATAT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	9/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10196866	A A	ATATATAT others(23): Show ATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0164 a0001c0003t0002g0164	1	12	0.0833	30	c.56- others(45): Show c.56-2880_56-2879insAAAAAAAATATATATATATATATATATATA	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10196866	A A	ATATATAT others(23): Show ATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0155 a0001c0003t0002g0155	1	12	0.0833	30	c.56- others(45): Show c.56-2880_56-2879insAAAAAAAAAAAATATATATATATATATATA	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SCAF1_chr19_49637209_49663642	49659984	T T	TACACACA others(23): Show TACACACACACACATACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0078 a0001c0002t0002g0078	1	150	0.0067	30	c.15 others(41): Show c.1585_*1586insACACACACACACATACACACACACACACAC	SCAF1	ENSG00000126461.15	transcript	ENST00000360565.8	protein_coding		1343		chr19	TogoVar
SCAF1_chr19_49637209_49663642	49659984	T T	TACACACA others(23): Show TACACACACACACATATACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0006 a0001c0004t0002g0006	1	150	0.0067	30	c.15 others(41): Show c.1585_*1586insACACACACACACATATACACACACACACAC	SCAF1	ENSG00000126461.15	transcript	ENST00000360565.8	protein_coding		1343		chr19	TogoVar
SCAF8_chr6_154728416_154839221	154770388	A A	ACACACTC others(23): Show ACACACTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0256 a0005c0005t0002g0256	1	49	0.0204	30	c.31- others(45): Show c.31-3600_31-3599insACACTCTCTCTCTCTCTCTCTCTCTCTCTC	SCAF8	ENSG00000213079.10	transcript	ENST00000367178.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCAF8_chr6_154728416_154839221	154784120	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	87	0.0115	30	c.160 others(47): Show c.160-3732_160-3703dupATATATATATATATATATATATATATAT AT	SCAF8	ENSG00000213079.10	transcript	ENST00000367178.8	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCAF8_chr6_154728416_154839221	154796389	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTCTCTGTCTG	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0149 a0001c0001t0008g0149	1	63	0.0159	30	c.606 others(47): Show c.606+1253_606+1254insCTCTCTCTCTCTCTCTCTCTCTGTCTGT CT	SCAF8	ENSG00000213079.10	transcript	ENST00000367178.8	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCAI_chr9_124937608_125148528	125042634	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0137 a0001c0001t0038g0137	1	69	0.0145	30	c.231 others(49): Show c.231-12896_231-12895insGTGTGTGTGTGTGTGTGTACACACAC ACAC	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	3/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125042634	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGTGTGTGTGTACACAC	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0293 a0001c0001t0005g0293	1	69	0.0145	30	c.231 others(49): Show c.231-12896_231-12895insGTGTGTACACACACACACACACACAC ACAC	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	3/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125042634	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTACAC	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0295 a0001c0001t0045g0295	1	69	0.0145	30	c.231 others(49): Show c.231-12896_231-12895insGTGTACACACACACACACACACACAC ACAC	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	3/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125073092	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	92	0.0109	30	c.99- others(47): Show c.99-17115_99-17086dupAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01261.hp1 HG00621.hp1 HG01261.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0007 a0001c0001t0003 a0002c0002t0007	a0001c0001t0003g0165 a0002c0002t0007g0254 a0001c0001t0003g0165 a0002c0002t0007g0254	2	50	0.0400	30	c.98+ others(47): Show c.98+36510_98+36511insATATATATTTTTTTTTTTTTTTTTTTTT TT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(23): Show AAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0140 a0001c0001t0065g0140	1	49	0.0204	30	c.98+ others(47): Show c.98+36510_98+36511insATATATATATATATATATATTTTTTTTT TT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(23): Show AAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0266 a0002c0002t0001g0266	1	49	0.0204	30	c.98+ others(47): Show c.98+36510_98+36511insATATATATATATATATATATATATTTTT TT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAMP1_chr5_78355617_78485739	78404453	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0169 a0002c0003t0007g0169	1	110	0.0091	30	c.136 others(49): Show c.136-11047_136-11046insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78430165	T T	TTATAAAT others(23): Show TTATAAATACTGTATTTATTTATAAATACAG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0141 a0001c0001t0025g0141	1	331	0.0030	30	c.632 others(47): Show c.632+8208_632+8209insAAATACTGTATTTATTTATAAATACAGT AT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78430222	T T	TTATAAAT others(23): Show TTATAAATACAGTATTTATTTATAAATACAG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0174 a0002c0003t0007g0174	1	301	0.0033	30	c.632 others(47): Show c.632+8265_632+8266insAAATACAGTATTTATTTATAAATACAGT AT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78430222	T T	TTATTTAT others(23): Show TTATTTATAAATACTGTATTTATAAATACTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03516.hp2 HG01891.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0197 a0001c0001t0015g0198 a0001c0001t0015g0197 a0001c0001t0015g0198	2	302	0.0066	30	c.632 others(47): Show c.632+8275_632+8276insTGTATTTATAAATACTGTATTTATAAAT AC	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78447973	C C	CCTCCTCC others(23): Show CCTCCTCCCCCGTCCTCTCCTCCTCCCTCCT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03195.hp2 HG03041.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0142 a0001c0001t0018g0143 a0001c0001t0018g0142 a0001c0001t0018g0143	2	332	0.0060	30	c.633 others(47): Show c.633-1952_633-1923dupCCCGTCCTCTCCTCCTCCCTCCTCTCCT CC	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP5_chr15_74990563_75026495	74990994	C C	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0002 a0001c0001t0019g0002	1	194	0.0052	30	c.-47 others(41): Show c.-4728_-4727insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4568		chr15	TogoVar
SCAPER_chr15_76342904_76910340	76428866	C C	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03654.hp1 HG04184.hp2 others(6): Show HG02809.hp1 HG03654.hp1 HG04184.hp2 NA18950.hp2 NA18973.hp1 NA19043.hp2 NA19065.hp1 NA19077.hp1 NA20752.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0001 a0002c0002 a0002c0003 others(2): Show a0001c0001 a0002c0002 a0002c0003 a0003c0006 a0010c0019	a0001c0001t0001 a0002c0002t0002 a0002c0003t0002 others(2): Show a0001c0001t0001 a0002c0002t0002 a0002c0003t0002 a0003c0006t0001 a0010c0019t0001	a0001c0001t0001g0013 a0002c0002t0002g0224 a0002c0002t0002g0229 others(6): Show a0001c0001t0001g0013 a0002c0002t0002g0224 a0002c0002t0002g0229 a0002c0002t0002g0255 a0002c0002t0002g0309 a0002c0003t0002g0206 a0003c0006t0001g0125 a0003c0006t0001g0139 a0010c0019t0001g0127	9	84	0.1071	30	c.331 others(49): Show c.3311+5211_3311+5212insTATATATATATATATATATATATATA TATA	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	26/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76652371	C C	CACACACA others(23): Show CACACACACATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	24	0.0417	30	c.264 others(51): Show c.2645+13281_2645+13282insATATATATATATATATATATATGT GTGTGT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	21/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76652371	C C	CACACACA others(23): Show CACACACATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0223 a0002c0002t0002g0223	1	24	0.0417	30	c.264 others(51): Show c.2645+13281_2645+13282insATATATATATATATATATATATAT GTGTGT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	21/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76726124	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA18948.hp2 HG03195.hp2 NA18948.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0013 a0001c0001 a0006c0013	a0001c0001t0003 a0006c0013t0003 a0001c0001t0003 a0006c0013t0003	a0001c0001t0003g0156 a0006c0013t0003g0123 a0001c0001t0003g0156 a0006c0013t0003g0123	2	46	0.0435	30	c.216 others(49): Show c.2165+2441_2165+2470dupATATATATATATATATATATATATAT ATAT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	17/31			chr15	TogoVar
SCARA5_chr8_27864883_27997673	27918944	A A	AAGGAGGA others(23): Show AAGGAGGAGGGGAAGGAGGAGGAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00741.hp2 HG01168.hp1 others(6): Show HG00438.hp1 HG00741.hp2 HG01168.hp1 HG01169.hp2 HG01255.hp1 HG01496.hp1 HG02040.hp2 HG02056.hp2 HG02523.hp2	a0004 a0006 a0004 a0006	a0004c0012 a0004c0028 a0006c0026 others(1): Show a0004c0012 a0004c0028 a0006c0026 a0006c0027	a0004c0012t0002 a0004c0012t0005 a0004c0012t0007 others(5): Show a0004c0012t0002 a0004c0012t0005 a0004c0012t0007 a0004c0012t0030 a0004c0012t0061 a0004c0028t0004 a0006c0026t0008 a0006c0027t0003	a0004c0012t0002g0074 a0004c0012t0005g0136 a0004c0012t0005g0138 others(6): Show a0004c0012t0002g0074 a0004c0012t0005g0136 a0004c0012t0005g0138 a0004c0012t0007g0041 a0004c0012t0030g0039 a0004c0012t0061g0161 a0004c0028t0004g0200 a0006c0026t0008g0266 a0006c0027t0003g0294	9	312	0.0288	30	c.916 others(47): Show c.916+2626_916+2627insCCTTCTCCTCCTCCTCCTTCCCCTCCTC CT	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCARB1_chr12_124771856_124868864	124781775	G G	GTTTGTTT others(23): Show GTTTGTTTGTTTGTGCTCAATCTGGCAATCC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01106.hp1 HG01496.hp1 others(1): Show HG01099.hp1 HG01106.hp1 HG01496.hp1 HG02293.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0008 a0001c0002 a0002c0008	a0001c0002t0009 a0002c0008t0009 a0001c0002t0009 a0002c0008t0009	a0001c0002t0009g0051 a0001c0002t0009g0054 a0001c0002t0009g0055 others(1): Show a0001c0002t0009g0051 a0001c0002t0009g0054 a0001c0002t0009g0055 a0002c0008t0009g0016	4	354	0.0113	30	c.153 others(47): Show c.1530+878_1530+907dupGGATTGCCAGATTGAGCACAAACAAACA AA	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	12/12			chr12	TogoVar
SCART1_chr10_133448945_133474760	133460471	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0005 a0004c0005t0005	a0004c0005t0005g0164 a0004c0005t0005g0164	1	124	0.0081	30	c.196 others(47): Show c.1969+319_1969+320insATATATATATATATATATATATATATAT AT	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
SCART1_chr10_133448945_133474760	133460496	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0003 a0003	a0003c0024 a0003c0024	a0003c0024t0003 a0003c0024t0003	a0003c0024t0003g0107 a0003c0024t0003g0107	1	417	0.0024	30	c.196 others(47): Show c.1969+327_1969+328insATATATATATATATATATATATATATTT TT	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
SCD5_chr4_82624539_82803796	82670642	C C	CATATCAA others(23): Show CATATCAATTCCATATCAATTGATATGGCAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00642.hp1 HG00673.hp2 others(71): Show HG00558.hp1 HG00642.hp1 HG00673.hp2 HG01167.hp1 HG01169.hp1 HG01192.hp2 HG01261.hp1 HG01496.hp2 HG01515.hp2 HG01884.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02132.hp1 HG02165.hp1 HG02280.hp2 HG02486.hp2 HG02615.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02818.hp1 HG02818.hp2 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03704.hp1 HG03710.hp2 HG04199.hp1 HG06807.hp2 NA18906.hp1 NA18941.hp2 NA18942.hp1 NA18946.hp2 NA18947.hp2 NA18949.hp2 NA18950.hp2 NA18955.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18967.hp2 NA18968.hp1 NA18986.hp2 NA18992.hp1 NA18993.hp2 NA18994.hp2 NA19007.hp1 NA19060.hp2 NA19077.hp1 NA19088.hp1 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0022 a0001c0001t0024 a0001c0001t0030 a0001c0001t0033	a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0103 others(71): Show a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0103 a0001c0001t0001g0152 a0001c0001t0001g0171 a0001c0001t0001g0178 a0001c0001t0002g0013 a0001c0001t0002g0030 a0001c0001t0002g0035 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0053 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0122 a0001c0001t0002g0127 a0001c0001t0002g0130 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0159 a0001c0001t0002g0163 a0001c0001t0002g0166 a0001c0001t0002g0172 a0001c0001t0002g0174 a0001c0001t0002g0180 a0001c0001t0003g0012 a0001c0001t0003g0048 a0001c0001t0003g0073 a0001c0001t0003g0078 a0001c0001t0003g0094 a0001c0001t0003g0111 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0004g0018 a0001c0001t0004g0027 a0001c0001t0004g0100 a0001c0001t0004g0155 a0001c0001t0004g0164 a0001c0001t0004g0169 a0001c0001t0004g0173 a0001c0001t0009g0193 a0001c0001t0010g0196 a0001c0001t0010g0199 a0001c0001t0011g0004 a0001c0001t0011g0010 a0001c0001t0012g0092 a0001c0001t0012g0181 a0001c0001t0016g0192 a0001c0001t0018g0001 a0001c0001t0019g0003 a0001c0001t0022g0182 a0001c0001t0024g0051 a0001c0001t0030g0203 a0001c0001t0033g0210	74	206	0.3592	30	c.569 others(49): Show c.569+10035_569+10064dupTTGCCATATCAATTGATATGGAATTG ATAT	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	3/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82670716	A A	ATCAATTG others(23): Show ATCAATTGATATGGCAAATATCAATTCCATG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02280.hp1 HG02486.hp1 others(5): Show HG01243.hp1 HG02280.hp1 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02897.hp1 HG02976.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0029	a0001c0001t0001g0075 a0001c0001t0002g0072 a0001c0001t0005g0065 others(5): Show a0001c0001t0001g0075 a0001c0001t0002g0072 a0001c0001t0005g0065 a0001c0001t0005g0066 a0001c0001t0005g0067 a0001c0001t0005g0071 a0001c0001t0005g0077 a0001c0002t0029g0207	8	205	0.0390	30	c.569 others(47): Show c.569+9961_569+9990dupCATGGAATTGATATTTGCCATATCAATT GA	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	3/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82670725	T T	TATGGCAA others(23): Show TATGGCAAATATCAATTCCATGTCAATTGAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0156 a0001c0001t0002g0156	1	205	0.0049	30	c.569 others(47): Show c.569+9981_569+9982insGTCAATTGACATGGAATTGATATTTGCC AT	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	3/4			chr4	TogoVar
SCEL_chr13_77530706_77650263	77532794	T T	TTGTTGTT others(23): Show TTGTTGTTTATTCTGAATTTTGCTGTGAACC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0129 a0001c0004t0002g0129	1	354	0.0028	30	c.-30 others(41): Show c.-3050_-3049insTGTTGTTTATTCTGAATTTTGCTGTGAACC	SCEL	ENSG00000136155.17	transcript	ENST00000349847.4	protein_coding		2911		chr13	TogoVar
SCEL_chr13_77530706_77650263	77633442	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19084.hp1 NA19066.hp2 NA19084.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0007 a0002c0001t0001g0007	2	103	0.0194	30	c.169 others(47): Show c.1692-913_1692-912insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	SCEL	ENSG00000136155.17	transcript	ENST00000349847.4	protein_coding	28/32		INFO_REALIGN_3_PRIME	chr13	TogoVar
SCFD2_chr4_52867982_53371061	53140392	A A	AAAATATA others(23): Show AAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp2 HG02735.hp1 HG02258.hp1 HG02451.hp2 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0001 a0001c0001t0002 a0001c0001t0010	a0001c0001t0001g0081 a0001c0001t0002g0057 a0001c0001t0010g0061 a0001c0001t0001g0081 a0001c0001t0002g0057 a0001c0001t0010g0061	3	11	0.2727	30	c.156 others(49): Show c.1561+4940_1561+4941insATATATATATATATATATATATATAT ATTT	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	5/8			chr4	TogoVar
SCG3_chr15_51676503_51726026	51704764	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01515.hp2 HG01993.hp2 others(3): Show HG00323.hp1 HG01515.hp2 HG01993.hp2 HG02735.hp2 HG03041.hp1 NA18982.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0003c0004t0001	a0001c0001t0001g0211 a0001c0001t0001g0273 a0001c0001t0003g0054 others(3): Show a0001c0001t0001g0211 a0001c0001t0001g0273 a0001c0001t0003g0054 a0001c0001t0003g0068 a0001c0001t0005g0102 a0003c0004t0001g0257	6	88	0.0682	30	c.120 others(49): Show c.1207+3522_1207+3551dupTATATATATATATATATATATATATA TATA	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar

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