Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
SCAPER_chr15_76342904_76910340	76667625	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02055.hp2 HG00735.hp1 HG02055.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0001 a0004c0008t0001 a0001c0001t0001 a0004c0008t0001	a0001c0001t0001g0011 a0004c0008t0001g0175 a0001c0001t0001g0011 a0004c0008t0001g0175	2	312	0.0064	13	c.250 others(32): Show c.2509-1849_2509-1837dupTTTTTTTTTTTTT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	20/31			chr15	TogoVar
SCAP_chr3_47408681_47480941	47443306	T T	TCTCTCTC others(6): Show TCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	304	0.0033	13	c.-98 others(28): Show c.-98-216_-98-215insGAGAGAGAGAGAG	SCAP	ENSG00000114650.21	transcript	ENST00000265565.10	protein_coding	1/22			chr3	TogoVar
SCAP_chr3_47408681_47480941	47473080	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0288 a0001c0001t0002g0288	1	304	0.0033	13	c.-99 others(30): Show c.-99+2706_-99+2718dupTTTTTTTTTTTTT	SCAP	ENSG00000114650.21	transcript	ENST00000265565.10	protein_coding	1/22			chr3	TogoVar
SCARA3_chr8_27628902_27678018	27668546	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG04199.hp1 HG01243.hp2 HG04199.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0012 a0002c0002t0004 a0002c0002t0012	a0002c0002t0004g0089 a0002c0002t0012g0105 a0002c0002t0004g0089 a0002c0002t0012g0105	2	408	0.0049	13	c.137 others(32): Show c.1370-2350_1370-2338dupAAAAAAAAAAAAA	SCARA3	ENSG00000168077.14	transcript	ENST00000301904.4	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
SCARA5_chr8_27864883_27997673	27865788	T T	TATATATA others(6): Show TATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0034 a0003c0011t0034	a0003c0011t0034g0135 a0003c0011t0034g0135	1	314	0.0032	13	c.61 others(24): Show c.6145_*6146insTATATATATATAT	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding		4094		chr8	TogoVar
SCARA5_chr8_27864883_27997673	27936592	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02683.hp1 NA21309.hp2 HG02056.hp1 HG02683.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0005 a0001c0003t0039 a0001c0005t0008 a0001c0001t0005 a0001c0003t0039 a0001c0005t0008	a0001c0001t0005g0225 a0001c0003t0039g0023 a0001c0005t0008g0266 a0001c0001t0005g0225 a0001c0003t0039g0023 a0001c0005t0008g0266	3	314	0.0096	13	c.242 others(32): Show c.242-14360_242-14348dupTTTTTTTTTTTTT	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	3/8			chr8	TogoVar
SCARB1_chr12_124771856_124868864	124790009	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0024 a0001c0001t0006g0024	1	356	0.0028	13	c.120 others(32): Show c.1203-2565_1203-2553dupTTTTTTTTTTTTT	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	9/12			chr12	TogoVar
SCARB2_chr4_76153737_76218824	76170945	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0287 a0001c0001t0002g0287	1	384	0.0026	13	c.995 others(28): Show c.995-961_995-960insATATATATATATA	SCARB2	ENSG00000138760.11	transcript	ENST00000264896.8	protein_coding	7/11			chr4	TogoVar
SCARB2_chr4_76153737_76218824	76182043	C C	CAAAATTT others(6): Show CAAAATTTATGCCA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG00558.hp2 others(110): Show HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00673.hp1 HG01069.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01243.hp2 HG01261.hp2 HG01346.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01975.hp1 HG01978.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02080.hp2 HG02109.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02293.hp1 HG02451.hp1 HG02559.hp1 HG02615.hp2 HG02630.hp2 HG02717.hp1 HG02735.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03195.hp1 HG03209.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG04184.hp1 HG04199.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18949.hp2 NA18953.hp1 NA18964.hp1 NA18965.hp2 NA18966.hp2 NA18968.hp1 NA18972.hp2 NA18974.hp1 NA18977.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18989.hp1 NA18990.hp1 NA18992.hp1 NA18994.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp2 NA19009.hp1 NA19043.hp2 NA19055.hp2 NA19058.hp2 NA19060.hp1 NA19062.hp2 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19074.hp2 NA19076.hp2 NA19080.hp1 NA19081.hp1 NA19084.hp2 NA19085.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0003c0006 others(2): Show a0001c0001 a0001c0002 a0003c0006 a0003c0009 a0004c0004	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(7): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0018 a0001c0001t0027 a0001c0002t0006 a0003c0006t0013 a0003c0009t0028 a0004c0004t0004	a0001c0001t0003g0001 a0001c0001t0003g0006 a0001c0001t0003g0007 others(81): Show a0001c0001t0003g0001 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0054 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0106 a0001c0001t0003g0109 a0001c0001t0003g0126 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0004g0016 a0001c0001t0004g0038 a0001c0001t0004g0048 a0001c0001t0004g0223 a0001c0001t0004g0228 a0001c0001t0004g0239 a0001c0001t0004g0243 a0001c0001t0004g0246 a0001c0001t0004g0250 a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0004g0253 a0001c0001t0004g0257 a0001c0001t0004g0264 a0001c0001t0004g0270 a0001c0001t0004g0295 a0001c0001t0004g0296 a0001c0001t0004g0297 a0001c0001t0004g0298 a0001c0001t0004g0299 a0001c0001t0004g0301 a0001c0001t0004g0308 a0001c0001t0006g0192 a0001c0001t0006g0193 a0001c0001t0006g0194 a0001c0001t0006g0201 a0001c0001t0006g0203 a0001c0001t0006g0204 a0001c0001t0006g0206 a0001c0001t0006g0215 a0001c0001t0011g0107 a0001c0001t0011g0108 a0001c0001t0018g0135 a0001c0001t0027g0300 a0001c0002t0006g0032 a0001c0002t0006g0174 a0001c0002t0006g0177 a0001c0002t0006g0178 a0001c0002t0006g0182 a0001c0002t0006g0183 a0001c0002t0006g0184 a0001c0002t0006g0185 a0001c0002t0006g0186 a0003c0006t0013g0180 a0003c0006t0013g0181 a0003c0009t0028g0240 a0004c0004t0004g0015	113	384	0.2943	13	c.276 others(28): Show c.276-955_276-943dupTGGCATAAATTTT	SCARB2	ENSG00000138760.11	transcript	ENST00000264896.8	protein_coding	2/11			chr4	TogoVar
SCARB2_chr4_76153737_76218824	76197516	T T	TCAAACTG others(6): Show TCAAACTGCAACCA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02809.hp2 HG02818.hp1 others(4): Show HG02280.hp2 HG02809.hp2 HG02818.hp1 HG03041.hp1 HG03130.hp1 HG03540.hp2 NA21309.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0006 a0002c0003t0014 others(3): Show a0002c0003t0004 a0002c0003t0006 a0002c0003t0014 a0002c0003t0019 a0002c0003t0022 a0002c0003t0024	a0002c0003t0004g0241 a0002c0003t0006g0189 a0002c0003t0014g0242 others(4): Show a0002c0003t0004g0241 a0002c0003t0006g0189 a0002c0003t0014g0242 a0002c0003t0014g0294 a0002c0003t0019g0093 a0002c0003t0022g0214 a0002c0003t0024g0216	7	384	0.0182	13	c.118 others(30): Show c.118-1653_118-1652insTGGTTGCAGTTTG	SCARB2	ENSG00000138760.11	transcript	ENST00000264896.8	protein_coding	1/11			chr4	TogoVar
SCCPDH_chr1_246719409_246773137	246746107	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0008 a0001c0010t0008	a0001c0010t0008g0251 a0001c0010t0008g0251	1	410	0.0024	13	c.564 others(30): Show c.564+1995_564+2007dupAAAAAAAAAAAAA	SCCPDH	ENSG00000143653.10	transcript	ENST00000366510.4	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCD5_chr4_82624539_82803796	82702130	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0163 a0001c0001t0002g0163	1	210	0.0048	13	c.363 others(30): Show c.363+3140_363+3152dupAAAAAAAAAAAAA	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	2/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82708919	T T	TAATAATA others(6): Show TAATAATAGCTACC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00558.hp1 HG00558.hp2 others(148): Show HG00280.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02165.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18941.hp1 NA18942.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18955.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp2 NA18965.hp2 NA18967.hp1 NA18968.hp2 NA18986.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp2 NA19060.hp1 NA19066.hp1 NA19077.hp1 NA19077.hp2 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0003c0004 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0002t0008 a0001c0002t0009 a0001c0002t0016 a0001c0002t0029 a0001c0005t0031 a0002c0003t0005 a0002c0003t0021 a0003c0004t0001 a0004c0006t0001	a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0019 others(148): Show a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0002g0013 a0001c0001t0002g0031 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0072 a0001c0001t0002g0080 a0001c0001t0002g0099 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0139 a0001c0001t0002g0146 a0001c0001t0002g0156 a0001c0001t0002g0174 a0001c0001t0003g0012 a0001c0001t0003g0048 a0001c0001t0003g0073 a0001c0001t0003g0094 a0001c0001t0003g0098 a0001c0001t0003g0111 a0001c0001t0003g0188 a0001c0001t0004g0018 a0001c0001t0004g0027 a0001c0001t0004g0079 a0001c0001t0004g0100 a0001c0001t0004g0155 a0001c0001t0004g0164 a0001c0001t0004g0169 a0001c0001t0004g0173 a0001c0001t0005g0065 a0001c0001t0005g0066 a0001c0001t0005g0067 a0001c0001t0005g0071 a0001c0001t0005g0076 a0001c0001t0005g0077 a0001c0001t0006g0002 a0001c0001t0006g0005 a0001c0001t0006g0007 a0001c0001t0006g0008 a0001c0001t0006g0009 a0001c0001t0008g0195 a0001c0001t0008g0197 a0001c0001t0008g0204 a0001c0001t0009g0193 a0001c0001t0009g0198 a0001c0001t0010g0205 a0001c0001t0012g0092 a0001c0001t0012g0181 a0001c0001t0013g0017 a0001c0001t0013g0116 a0001c0001t0014g0025 a0001c0001t0015g0200 a0001c0001t0017g0006 a0001c0001t0018g0001 a0001c0001t0019g0003 a0001c0001t0020g0120 a0001c0001t0022g0182 a0001c0001t0025g0037 a0001c0001t0026g0084 a0001c0001t0027g0016 a0001c0001t0028g0058 a0001c0001t0030g0203 a0001c0001t0032g0194 a0001c0001t0033g0210 a0001c0002t0008g0208 a0001c0002t0009g0206 a0001c0002t0016g0209 a0001c0002t0029g0207 a0001c0005t0031g0202 a0002c0003t0005g0190 a0002c0003t0021g0189 a0003c0004t0001g0040 a0004c0006t0001g0137	151	210	0.7191	13	c.233 others(30): Show c.233-3507_233-3506insGGTAGCTATTATT	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82747069	G G	GCCCCCCC others(6): Show GCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	210	0.0048	13	c.233 others(32): Show c.233-41657_233-41656insGGGGGGGGGGGGG	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4			chr4	TogoVar
SCEL_chr13_77530706_77650263	77633442	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01433.hp2 HG01516.hp2 others(31): Show HG00408.hp1 HG01433.hp2 HG01516.hp2 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG02027.hp1 HG02083.hp1 HG02148.hp2 HG02300.hp1 HG02523.hp1 HG02572.hp1 HG02622.hp2 HG02698.hp2 HG02717.hp2 HG03486.hp2 HG03669.hp2 HG04204.hp1 HG04204.hp2 NA18951.hp2 NA18959.hp2 NA18970.hp2 NA18973.hp2 NA18986.hp2 NA18991.hp2 NA18993.hp2 NA19063.hp2 NA19068.hp1 NA19070.hp2 NA19076.hp1 NA19080.hp1 NA19085.hp1 NA19088.hp2	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0007	a0002c0001 a0003c0003 a0004c0008 others(1): Show a0002c0001 a0003c0003 a0004c0008 a0007c0021	a0002c0001t0001 a0003c0003t0001 a0004c0008t0001 others(1): Show a0002c0001t0001 a0003c0003t0001 a0004c0008t0001 a0007c0021t0001	a0002c0001t0001g0114 a0002c0001t0001g0160 a0002c0001t0001g0188 others(31): Show a0002c0001t0001g0114 a0002c0001t0001g0160 a0002c0001t0001g0188 a0002c0001t0001g0190 a0002c0001t0001g0258 a0002c0001t0001g0260 a0002c0001t0001g0261 a0003c0003t0001g0026 a0003c0003t0001g0038 a0003c0003t0001g0053 a0003c0003t0001g0056 a0003c0003t0001g0057 a0003c0003t0001g0070 a0003c0003t0001g0072 a0003c0003t0001g0077 a0003c0003t0001g0078 a0003c0003t0001g0093 a0003c0003t0001g0096 a0003c0003t0001g0097 a0003c0003t0001g0098 a0003c0003t0001g0101 a0003c0003t0001g0102 a0003c0003t0001g0172 a0003c0003t0001g0182 a0003c0003t0001g0184 a0003c0003t0001g0232 a0003c0003t0001g0233 a0003c0003t0001g0234 a0003c0003t0001g0249 a0003c0003t0001g0274 a0003c0003t0001g0278 a0003c0003t0001g0337 a0004c0008t0001g0100 a0007c0021t0001g0083	34	356	0.0955	13	c.169 others(30): Show c.1692-925_1692-913dupAAAAAAAAAAAAA	SCEL	ENSG00000136155.17	transcript	ENST00000349847.4	protein_coding	28/32		INFO_REALIGN_3_PRIME	chr13	TogoVar
SCFD2_chr4_52867982_53371061	53007334	G G	GAGAGAGA others(6): Show GAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0095 a0002c0002t0001g0095	1	162	0.0062	13	c.156 others(34): Show c.1562-86465_1562-86464insTCTCTCTCTCTCT	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	5/8			chr4	TogoVar
SCFD2_chr4_52867982_53371061	53244900	C C	CACAATTA others(6): Show CACAATTAGAAAGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG00642.hp1 others(16): Show HG00140.hp2 HG00423.hp2 HG00642.hp1 HG00735.hp1 HG01106.hp1 HG01169.hp1 HG01346.hp2 HG01433.hp2 HG01515.hp2 HG02129.hp1 HG03704.hp1 NA18612.hp1 NA18941.hp2 NA18963.hp1 NA18998.hp2 NA18999.hp2 NA19007.hp2 NA19060.hp1 NA19088.hp1	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0005 a0001c0007 a0005c0011 others(2): Show a0001c0005 a0001c0007 a0005c0011 a0005c0012 a0007c0013	a0001c0005t0001 a0001c0005t0003 a0001c0005t0004 others(5): Show a0001c0005t0001 a0001c0005t0003 a0001c0005t0004 a0001c0007t0001 a0001c0007t0003 a0005c0011t0003 a0005c0012t0001 a0007c0013t0001	a0001c0005t0001g0023 a0001c0005t0001g0024 a0001c0005t0001g0026 others(16): Show a0001c0005t0001g0023 a0001c0005t0001g0024 a0001c0005t0001g0026 a0001c0005t0001g0034 a0001c0005t0001g0037 a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0005t0003g0046 a0001c0005t0004g0030 a0001c0005t0004g0033 a0001c0007t0001g0029 a0001c0007t0001g0035 a0001c0007t0001g0036 a0001c0007t0003g0025 a0001c0007t0003g0027 a0001c0007t0003g0028 a0005c0011t0003g0003 a0005c0012t0001g0004 a0007c0013t0001g0031	19	162	0.1173	13	c.131 others(34): Show c.1311+28913_1311+28925dupTCTTTCTAATTGT	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	4/8			chr4	TogoVar
SCFD2_chr4_52867982_53371061	53370409	C C	CCTTTTTT others(6): Show CCTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0064 a0001c0003t0003g0064	1	162	0.0062	13	c.-44 others(24): Show c.-4469_-4468insAAAAAAAAAAAAG	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding		4349		chr4	TogoVar
SCG3_chr15_51676503_51726026	51709693	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0277 a0001c0001t0002g0277	1	402	0.0025	13	c.120 others(32): Show c.1208-3639_1208-3638insTTTTTTTTTTTTT	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG3_chr15_51676503_51726026	51709701	A A	ATATATAT others(6): Show ATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	402	0.0025	13	c.120 others(32): Show c.1208-3631_1208-3630insATATATATTTTTT	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG3_chr15_51676503_51726026	51709701	A A	ATATATAT others(6): Show ATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	402	0.0025	13	c.120 others(32): Show c.1208-3631_1208-3630insATATATTTTTTTT	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG3_chr15_51676503_51726026	51717570	T T	TTCAGAGA others(6): Show TTCAGAGAAATGCA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	402	0.0025	13	c.128 others(32): Show c.1289-1836_1289-1824dupCAGAGAAATGCAT	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCGB1C1_chr11_188078_199575	196267	T T	TTGGTGAG others(6): Show TTGGTGAGGGGACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	354	0.0028	13	c.18 others(24): Show c.1817_*1818insTGGTGAGGGGACC	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1693		chr11	TogoVar
SCGB1C2_chr17_132569_144067	140831	C C	CTGGTGAG others(6): Show CTGGTGAGGGGACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00738.hp2 HG01070.hp2 others(57): Show HG00639.hp2 HG00738.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01433.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp2 HG02004.hp2 HG02027.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03453.hp1 HG03492.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03834.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18940.hp2 NA18943.hp1 NA18961.hp2 NA18982.hp2 NA19030.hp1 NA19030.hp2 NA19066.hp1 NA19068.hp2 NA19072.hp2 NA19079.hp2 NA19090.hp1 NA20300.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0001 a0001c0001t0004 a0002c0002t0001	a0001c0001t0004g0003 a0002c0002t0001g0003 a0002c0002t0001g0013 others(4): Show a0001c0001t0004g0003 a0002c0002t0001g0003 a0002c0002t0001g0013 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0027	60	402	0.1493	13	c.18 others(24): Show c.1889_*1890insTGGTGAGGGGACA	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		1765		chr17	TogoVar
SCGB1C2_chr17_132569_144067	140950	G G	GGGAAACC others(6): Show GGGAAACCTGGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02723.hp2 HG02895.hp1 others(3): Show HG02257.hp2 HG02723.hp2 HG02895.hp1 HG03098.hp1 HG03540.hp1 NA19005.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0001 a0003c0008t0001 a0001c0001t0001 a0003c0008t0001	a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0018 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0018 a0003c0008t0001g0007	6	402	0.0149	13	c.20 others(24): Show c.2008_*2009insGGAAACCTGGTGA	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		1884		chr17	TogoVar
SCGB1C2_chr17_132569_144067	140958	T T	TTGGTGAG others(6): Show TTGGTGAGGGGACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00438.hp1 others(127): Show HG00099.hp2 HG00323.hp1 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00639.hp1 HG00673.hp2 HG00738.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01167.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01346.hp1 HG01358.hp1 HG01496.hp2 HG01515.hp1 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02135.hp2 HG02148.hp1 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02523.hp1 HG02602.hp1 HG02622.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02818.hp1 HG02886.hp1 HG02922.hp1 HG02976.hp1 HG03017.hp2 HG03130.hp2 HG03239.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 NA18906.hp2 NA18939.hp2 NA18942.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18956.hp2 NA18961.hp1 NA18962.hp2 NA18964.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18988.hp1 NA18989.hp2 NA18991.hp1 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19064.hp1 NA19067.hp2 NA19072.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0010 others(3): Show a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0010 a0001c0001t0002g0014 a0001c0001t0002g0020 a0001c0001t0002g0028	130	402	0.3234	13	c.20 others(24): Show c.2016_*2017insTGGTGAGGGGACC	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		1892		chr17	TogoVar
SCGB1C2_chr17_132569_144067	141059	T T	TGGTGAGG others(6): Show TGGTGAGGGGAACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02258.hp2 HG01884.hp2 HG02258.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0015 a0004c0004t0001g0015	2	402	0.0050	13	c.21 others(24): Show c.2117_*2118insGGTGAGGGGAACC	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		1993		chr17	TogoVar
SCGB1C2_chr17_132569_144067	141214	T T	TTGGTGAG others(6): Show TTGGTGAGGGGACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00408.hp1 others(183): Show HG00099.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01167.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01934.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02451.hp2 HG02523.hp1 HG02602.hp1 HG02622.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02818.hp1 HG02886.hp1 HG02922.hp1 HG02976.hp1 HG03017.hp2 HG03130.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 NA18747.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18942.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18961.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18973.hp1 NA18975.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18987.hp1 NA18988.hp1 NA18989.hp2 NA18991.hp1 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19064.hp1 NA19064.hp2 NA19067.hp2 NA19072.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19240.hp1 NA19240.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0002 a0006c0006t0002 a0001c0001t0002 a0006c0006t0002	a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0006 others(7): Show a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0014 a0001c0001t0002g0020 a0001c0001t0002g0026 a0001c0001t0002g0028 a0006c0006t0002g0004	186	402	0.4627	13	c.22 others(24): Show c.2272_*2273insTGGTGAGGGGACC	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		2148		chr17	TogoVar
SCGB1C2_chr17_132569_144067	141214	T T	TTGGTGTG others(6): Show TTGGTGTGGGGACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	402	0.0025	13	c.22 others(24): Show c.2272_*2273insTGGTGTGGGGACC	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		2148		chr17	TogoVar
SCGB1C2_chr17_132569_144067	141289	T T	TTGGTGAG others(6): Show TTGGTGAGGGGACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00423.hp2 others(55): Show HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00621.hp2 HG00673.hp1 HG00733.hp1 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01934.hp1 HG01952.hp2 HG01978.hp2 HG02056.hp1 HG02145.hp1 HG02165.hp2 HG02280.hp2 HG02293.hp1 HG02735.hp1 HG03225.hp1 HG03239.hp1 HG03688.hp1 HG03831.hp2 NA18747.hp1 NA18940.hp1 NA18945.hp1 NA18955.hp1 NA18956.hp1 NA18964.hp2 NA18965.hp1 NA18967.hp2 NA18968.hp1 NA18973.hp1 NA18975.hp1 NA18980.hp1 NA18983.hp2 NA18986.hp1 NA18987.hp1 NA18993.hp1 NA18999.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19043.hp1 NA19056.hp1 NA19058.hp1 NA19064.hp2 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20805.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0005 a0006c0006 a0001c0001 a0001c0005 a0006c0006	a0001c0001t0002 a0001c0005t0001 a0006c0006t0002 a0001c0001t0002 a0001c0005t0001 a0006c0006t0002	a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0008 others(3): Show a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0026 a0001c0005t0001g0021 a0006c0006t0002g0004	58	402	0.1443	13	c.23 others(24): Show c.2347_*2348insTGGTGAGGGGACC	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		2223		chr17	TogoVar
SCGB1C2_chr17_132569_144067	141314	T T	TTGGTGAG others(6): Show TTGGTGAGGGGACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00423.hp2 others(54): Show HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00621.hp2 HG00673.hp1 HG00733.hp1 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01934.hp1 HG01952.hp2 HG01978.hp2 HG02056.hp1 HG02145.hp1 HG02165.hp2 HG02293.hp1 HG02735.hp1 HG03225.hp1 HG03239.hp1 HG03688.hp1 HG03831.hp2 NA18747.hp1 NA18940.hp1 NA18945.hp1 NA18955.hp1 NA18956.hp1 NA18964.hp2 NA18965.hp1 NA18967.hp2 NA18968.hp1 NA18973.hp1 NA18975.hp1 NA18980.hp1 NA18983.hp2 NA18986.hp1 NA18987.hp1 NA18993.hp1 NA18999.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19043.hp1 NA19056.hp1 NA19058.hp1 NA19064.hp2 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20805.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0002 a0006c0006t0002 a0001c0001t0002 a0006c0006t0002	a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0008 others(2): Show a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0026 a0006c0006t0002g0004	57	402	0.1418	13	c.23 others(24): Show c.2372_*2373insTGGTGAGGGGACA	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		2248		chr17	TogoVar
SCGB1C2_chr17_132569_144067	141352	T T	TTGGTGAG others(6): Show TTGGTGAGGGGACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00438.hp1 others(125): Show HG00099.hp2 HG00323.hp1 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00639.hp1 HG00673.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01167.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01346.hp1 HG01358.hp1 HG01496.hp2 HG01515.hp1 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02135.hp2 HG02148.hp1 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02622.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02818.hp1 HG02886.hp1 HG02922.hp1 HG02976.hp1 HG03017.hp2 HG03130.hp2 HG03239.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03669.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 NA18939.hp2 NA18942.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18956.hp2 NA18961.hp1 NA18962.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18988.hp1 NA18989.hp2 NA18991.hp1 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19064.hp1 NA19067.hp2 NA19072.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0006 others(5): Show a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0014 a0001c0001t0002g0020 a0001c0001t0002g0028	128	402	0.3184	13	c.24 others(24): Show c.2410_*2411insTGGTGAGGGGACA	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		2286		chr17	TogoVar
SCGB1D1_chr11_62185216_62198539	62196466	T T	TATTATTA others(6): Show TATTATTATTATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	424	0.0024	13	c.30 others(24): Show c.3038_*3039insATTATTATTATTA	SCGB1D1	ENSG00000168515.3	transcript	ENST00000306238.3	protein_coding		2928		chr11	TogoVar
SCGB1D4_chr11_62291281_62304075	62300773	G G	GCCAAAAT others(6): Show GCCAAAATCCACTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	430	0.0023	13	c.-17 others(24): Show c.-1764_-1763insTAGTGGATTTTGG	SCGB1D4	ENSG00000197745.3	transcript	ENST00000358585.3	protein_coding		1699		chr11	TogoVar
SCGB2A1_chr11_62203673_62218943	62213106	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01943.hp1 HG01934.hp2 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0210 a0001c0001t0001g0145 a0001c0001t0001g0210	2	442	0.0045	13	c.244 others(28): Show c.244-619_244-618insATATATATATATT	SCGB2A1	ENSG00000124939.6	transcript	ENST00000244930.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
SCGB2A1_chr11_62203673_62218943	62213106	A A	ATATATAT others(6): Show ATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01099.hp1 HG01884.hp2 others(8): Show HG00642.hp2 HG01099.hp1 HG01884.hp2 HG02145.hp1 HG02145.hp2 HG03130.hp2 NA18971.hp1 NA18971.hp2 NA18988.hp2 NA19004.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0032 a0001c0001t0001g0055 a0001c0001t0001g0103 others(5): Show a0001c0001t0001g0032 a0001c0001t0001g0055 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0175 a0001c0001t0001g0198 a0001c0001t0001g0202 a0001c0001t0003g0122	11	442	0.0249	13	c.244 others(28): Show c.244-619_244-618insATATATATATTTT	SCGB2A1	ENSG00000124939.6	transcript	ENST00000244930.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
SCGB2A1_chr11_62203673_62218943	62213106	A A	ATATATAT others(6): Show ATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01175.hp2 HG01257.hp2 others(2): Show HG00438.hp2 HG01175.hp2 HG01257.hp2 NA19066.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0061 a0001c0001t0001g0107 a0001c0001t0001g0108 others(2): Show a0001c0001t0001g0061 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0180 a0001c0001t0005g0061	5	442	0.0113	13	c.244 others(28): Show c.244-619_244-618insATATATATTTTTT	SCGB2A1	ENSG00000124939.6	transcript	ENST00000244930.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
SCGB2A1_chr11_62203673_62218943	62213106	A A	ATATATAT others(6): Show ATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG04199.hp1 HG03834.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0181 a0001c0001t0001g0084 a0001c0001t0001g0181	2	442	0.0045	13	c.244 others(28): Show c.244-619_244-618insATATATTTTTTTT	SCGB2A1	ENSG00000124939.6	transcript	ENST00000244930.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
SCGB2A1_chr11_62203673_62218943	62213107	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	442	0.0023	13	c.244 others(28): Show c.244-619_244-618insATATATATATATA	SCGB2A1	ENSG00000124939.6	transcript	ENST00000244930.6	protein_coding	2/2			chr11	TogoVar
SCGB2B2_chr19_34585644_34682159	34637917	A A	AAGTAAAC others(6): Show AAGTAAACATTACC	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18994.hp2 NA18986.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0031 a0001c0001t0010g0059 a0001c0001t0010g0031 a0001c0001t0010g0059	2	370	0.0054	13	c.-20 others(36): Show c.-2032+37712_-2032+37713insGGTAATGTTTACT	SCGB2B2	ENSG00000205209.8	transcript	ENST00000601241.6	protein_coding	1/3			chr19	TogoVar
SCGN_chr6_25647215_25706783	25688801	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG01109.hp2 others(16): Show HG00438.hp1 HG00544.hp2 HG01109.hp2 HG01934.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02602.hp2 HG03942.hp1 NA18948.hp2 NA18957.hp1 NA18974.hp1 NA19003.hp2 NA19083.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0004t0004	a0001c0001t0001g0039 a0001c0001t0001g0105 a0001c0001t0001g0107 others(16): Show a0001c0001t0001g0039 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0122 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0137 a0001c0001t0001g0217 a0001c0001t0001g0223 a0001c0001t0004g0270 a0001c0001t0004g0272 a0001c0001t0004g0290 a0001c0001t0004g0301 a0001c0001t0004g0304 a0001c0001t0004g0308 a0001c0001t0004g0326 a0001c0001t0006g0327 a0001c0004t0004g0291	19	368	0.0516	13	c.528 others(28): Show c.528-369_528-357dupAAAAAAAAAAAAA	SCGN	ENSG00000079689.15	transcript	ENST00000377961.3	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCHIP1_chr3_159268244_159902359	159300113	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00642.hp1 HG01891.hp1 HG00438.hp2 HG00642.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0004g0059 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0004g0059	3	100	0.0300	13	c.63+ others(30): Show c.63+26244_63+26256dupTTTTTTTTTTTTT	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159468777	A A	ATATATAT others(6): Show ATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp2 NA19030.hp1 others(1): Show HG03139.hp1 HG03139.hp2 NA19030.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0071 a0001c0001t0001g0078 a0001c0002t0001g0054 others(1): Show a0001c0001t0001g0071 a0001c0001t0001g0078 a0001c0002t0001g0054 a0001c0002t0001g0079	4	100	0.0400	13	c.63+ others(32): Show c.63+194895_63+194896insATATATATTTTTT	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159618446	G G	GTTCACAT others(6): Show GTTCACATATGTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG02055.hp2 others(7): Show HG01167.hp2 HG01169.hp2 HG02055.hp2 HG02622.hp1 HG02630.hp1 HG02723.hp2 HG02886.hp1 HG02922.hp1 HG03486.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0003 a0001c0001t0001g0023 a0001c0001t0001g0031 others(7): Show a0001c0001t0001g0003 a0001c0001t0001g0023 a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0072 a0001c0001t0001g0097 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0002g0047	10	100	0.1000	13	c.64- others(32): Show c.64-145997_64-145996insTTCACATATGTTT	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7			chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159668376	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	100	0.0100	13	c.64- others(30): Show c.64-96059_64-96047dupAAAAAAAAAAAAA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159842997	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0053 a0003c0005t0001g0053	1	100	0.0100	13	c.760 others(32): Show c.760-23163_760-23162insTTTTTTTTTTTTT	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159843001	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	100	0.0100	13	c.760 others(32): Show c.760-23146_760-23134dupTTTTTTTTTTTTT	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCIN_chr7_12565720_12665182	12632139	A A	AATTTTAT others(6): Show AATTTTATTTTATT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02976.hp1 HG03130.hp1 others(3): Show HG02970.hp2 HG02976.hp1 HG03130.hp1 HG03453.hp2 NA18906.hp1 NA19043.hp2	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0010	a0001c0001 a0002c0003 a0008c0009 others(1): Show a0001c0001 a0002c0003 a0008c0009 a0010c0011	a0001c0001t0041 a0001c0001t0228 a0001c0001t0266 others(3): Show a0001c0001t0041 a0001c0001t0228 a0001c0001t0266 a0002c0003t0015 a0008c0009t0003 a0010c0011t0178	a0001c0001t0041g0197 a0001c0001t0228g0199 a0001c0001t0266g0198 others(3): Show a0001c0001t0041g0197 a0001c0001t0228g0199 a0001c0001t0266g0198 a0002c0003t0015g0065 a0008c0009t0003g0243 a0010c0011t0178g0354	6	372	0.0161	13	c.131 others(32): Show c.1319+2917_1319+2918insATTTTATTTTATT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	9/15			chr7	TogoVar
SCIN_chr7_12565720_12665182	12657572	A A	ATATATAT others(6): Show ATATATATATATTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0241 a0002c0002t0241	a0002c0002t0241g0294 a0002c0002t0241g0294	1	372	0.0027	13	c.48 others(24): Show c.4858_*4859insATATATATATTTT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	16/16	4859	INFO_REALIGN_3_PRIME	chr7	TogoVar
SCIN_chr7_12565720_12665182	12657572	A A	ATATATAT others(6): Show ATATATATATTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0247 a0007c0008t0247	a0007c0008t0247g0136 a0007c0008t0247g0136	1	372	0.0027	13	c.48 others(24): Show c.4858_*4859insATATATATTTTTT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	16/16	4859	INFO_REALIGN_3_PRIME	chr7	TogoVar

Search by Variant

Search

Search Results