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
SBF2_chr11_9773668_10299219	10280157	A A	AGTTTCAG others(10): Show AGTTTCAGATTTCAGAGT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00423.hp1 others(82): Show HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00544.hp2 HG00558.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01934.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02055.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02280.hp1 HG02572.hp1 HG02602.hp1 HG02622.hp2 HG02683.hp1 HG02723.hp1 HG02738.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03098.hp2 HG03130.hp1 HG03225.hp2 HG03490.hp2 HG03516.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03831.hp2 HG03942.hp2 HG04115.hp1 NA18906.hp1 NA18939.hp1 NA18946.hp1 NA18948.hp2 NA18951.hp2 NA18966.hp2 NA18969.hp2 NA18973.hp1 NA18986.hp2 NA18995.hp1 NA18999.hp1 NA19005.hp1 NA19012.hp1 NA19030.hp2 NA19056.hp2 NA19058.hp1 NA19064.hp2 NA19066.hp1 NA19068.hp2 NA19082.hp1 NA20129.hp1 NA20752.hp1 NA20905.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0009	a0001c0001 a0001c0003 a0001c0005 others(7): Show a0001c0001 a0001c0003 a0001c0005 a0001c0012 a0001c0018 a0002c0002 a0003c0004 a0004c0006 a0006c0008 a0009c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0003t0005 a0001c0005t0001 a0001c0012t0005 a0001c0018t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0003c0004t0003 a0004c0006t0002 a0004c0006t0004 a0006c0008t0005 a0009c0014t0002	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0028 others(82): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0048 a0001c0001t0001g0193 a0001c0001t0001g0211 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0023 a0001c0001t0002g0032 a0001c0001t0002g0037 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0185 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0003g0020 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0030 a0001c0001t0003g0033 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0067 a0001c0001t0004g0003 a0001c0001t0004g0007 a0001c0001t0004g0047 a0001c0001t0004g0061 a0001c0001t0004g0214 a0001c0001t0004g0216 a0001c0001t0004g0217 a0001c0001t0004g0219 a0001c0001t0005g0206 a0001c0001t0005g0207 a0001c0001t0006g0004 a0001c0001t0007g0208 a0001c0001t0007g0212 a0001c0001t0012g0001 a0001c0003t0005g0186 a0001c0005t0001g0209 a0001c0005t0001g0210 a0001c0012t0005g0194 a0001c0018t0001g0046 a0002c0002t0001g0002 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0003g0035 a0002c0002t0004g0009 a0002c0002t0004g0013 a0002c0002t0004g0019 a0002c0002t0004g0063 a0002c0002t0004g0215 a0003c0004t0003g0008 a0003c0004t0003g0010 a0003c0004t0003g0021 a0003c0004t0003g0022 a0003c0004t0003g0027 a0003c0004t0003g0031 a0003c0004t0003g0068 a0003c0004t0003g0178 a0004c0006t0002g0016 a0004c0006t0004g0213 a0004c0006t0004g0218 a0006c0008t0005g0056 a0006c0008t0005g0057 a0009c0014t0002g0065	85	222	0.3829	17	c.55+ others(34): Show c.55+13841_55+13857dupACTCTGAAATCTGAAAC	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SBNO1_chr12_123284109_123369847	123297400	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00642.hp1 HG00735.hp1 others(16): Show HG00438.hp1 HG00642.hp1 HG00735.hp1 HG00741.hp2 HG01069.hp2 HG01081.hp2 HG01106.hp1 HG01981.hp2 HG01993.hp1 HG02165.hp2 HG03490.hp2 HG03942.hp2 NA18941.hp2 NA18948.hp1 NA18953.hp2 NA18977.hp2 NA18990.hp1 NA18991.hp1 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0013 a0001c0001t0017 a0001c0001t0033	a0001c0001t0001g0098 a0001c0001t0001g0125 a0001c0001t0001g0143 others(16): Show a0001c0001t0001g0098 a0001c0001t0001g0125 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0153 a0001c0001t0001g0160 a0001c0001t0001g0166 a0001c0001t0001g0171 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0004g0119 a0001c0001t0004g0209 a0001c0001t0004g0211 a0001c0001t0004g0212 a0001c0001t0004g0215 a0001c0001t0007g0145 a0001c0001t0013g0126 a0001c0001t0017g0128 a0001c0001t0033g0167	19	114	0.1667	17	c.403 others(34): Show c.4039+561_4039+577dupTTTTTTTTTTTTTTTTT	SBNO1	ENSG00000139697.14	transcript	ENST00000602398.3	protein_coding	31/31			chr12	TogoVar
SBNO1_chr12_123284109_123369847	123307020	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02155.hp2 HG02293.hp2 others(9): Show HG01070.hp2 HG02155.hp2 HG02293.hp2 HG02735.hp2 HG02976.hp1 HG03831.hp1 HG04228.hp2 NA18747.hp2 NA18953.hp1 NA18963.hp1 NA18990.hp2 NA19003.hp2	a0001 a0001	a0001c0002 a0001c0011 a0001c0002 a0001c0011	a0001c0002t0002 a0001c0002t0022 a0001c0002t0085 others(1): Show a0001c0002t0002 a0001c0002t0022 a0001c0002t0085 a0001c0011t0002	a0001c0002t0002g0218 a0001c0002t0002g0221 a0001c0002t0002g0224 others(9): Show a0001c0002t0002g0218 a0001c0002t0002g0221 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0002g0233 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0022g0254 a0001c0002t0085g0208 a0001c0011t0002g0231 a0001c0011t0002g0232	12	83	0.1446	17	c.363 others(36): Show c.3630+2273_3630+2289dupTTTTTTTTTTTTTTTTT	SBNO1	ENSG00000139697.14	transcript	ENST00000602398.3	protein_coding	28/31			chr12	TogoVar
SBSPON_chr8_73059543_73098172	73067607	A A	ATATATAT others(10): Show ATATATATATATATATAG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0034 a0002c0002t0034	a0002c0002t0034g0165 a0002c0002t0034g0165	1	258	0.0039	17	c.678 others(32): Show c.678-150_678-149insCTATATATATATATATA	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SBSPON_chr8_73059543_73098172	73067607	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG02572.hp2 others(9): Show HG01070.hp2 HG01071.hp1 HG02572.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG03688.hp2 HG04184.hp2 HG04228.hp2 NA18995.hp2 NA20129.hp2 NA20752.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0003c0005 a0002c0002 a0003c0003 a0003c0005	a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 others(5): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0009 a0003c0003t0006 a0003c0003t0007 a0003c0003t0009 a0003c0005t0010	a0002c0002t0002g0252 a0002c0002t0003g0175 a0002c0002t0003g0202 others(9): Show a0002c0002t0002g0252 a0002c0002t0003g0175 a0002c0002t0003g0202 a0002c0002t0003g0241 a0002c0002t0003g0255 a0002c0002t0005g0197 a0002c0002t0005g0198 a0002c0002t0009g0100 a0003c0003t0006g0085 a0003c0003t0007g0082 a0003c0003t0009g0091 a0003c0005t0010g0318	12	269	0.0446	17	c.678 others(32): Show c.678-150_678-149insATATATATATATATATA	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SCAF1_chr19_49637209_49663642	49660028	C C	CACACACA others(10): Show CACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0005 a0001c0002t0002g0005	1	246	0.0041	17	c.16 others(28): Show c.1629_*1630insACACACACACACACACA	SCAF1	ENSG00000126461.15	transcript	ENST00000360565.8	protein_coding		1387		chr19	TogoVar
SCAF4_chr21_31666000_31737118	31688114	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	28	0.0357	17	c.204 others(34): Show c.2043+176_2043+192dupTTTTTTTTTTTTTTTTT	SCAF4	ENSG00000156304.15	transcript	ENST00000286835.12	protein_coding	16/19			chr21	TogoVar
SCAF8_chr6_154728416_154839221	154790489	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	13	0.0769	17	c.322 others(34): Show c.322-2311_322-2295dupTTTTTTTTTTTTTTTTT	SCAF8	ENSG00000213079.10	transcript	ENST00000367178.8	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCAF8_chr6_154728416_154839221	154831703	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	24	0.0417	17	c.236 others(34): Show c.2360-213_2360-197dupAAAAAAAAAAAAAAAAA	SCAF8	ENSG00000213079.10	transcript	ENST00000367178.8	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCAI_chr9_124937608_125148528	125002488	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA19007.hp1 NA18949.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0022 a0001c0001t0005 a0001c0001t0022	a0001c0001t0005g0293 a0001c0001t0022g0303 a0001c0001t0005g0293 a0001c0001t0022g0303	2	109	0.0183	17	c.106 others(34): Show c.1066-446_1066-445insAAAAAAAAAAAAAAAAA	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	11/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106120	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0270 a0002c0002t0001g0270	1	216	0.0046	17	c.98+ others(34): Show c.98+36512_98+36513insATATATATATATATATA	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0177 a0001c0001t0013g0177	1	49	0.0204	17	c.98+ others(34): Show c.98+36510_98+36511insATATATTTTTTTTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(10): Show AAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0044 a0001c0001t0027g0044	1	49	0.0204	17	c.98+ others(34): Show c.98+36510_98+36511insATATATATTTTTTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAT others(10): Show AAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0109 a0001c0001t0057g0109	1	49	0.0204	17	c.98+ others(34): Show c.98+36510_98+36511insATATATATATATTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAMP2_chr15_74838730_74878365	74865108	C C	CAGTTGCT others(10): Show CAGTTGCTCACGCCTGTA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	384	0.0026	17	c.57+ others(32): Show c.57+8074_57+8090dupTACAGGCGTGAGCAACT	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding	1/8			chr15	TogoVar
SCAMP2_chr15_74838730_74878365	74873426	G G	GCCCCCCC others(10): Show GCCCCCCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG01106.hp1 NA18986.hp2 others(1): Show HG00735.hp2 HG01106.hp1 NA18986.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0015 a0001c0001t0003 a0001c0001t0004 a0001c0001t0015	a0001c0001t0003g0012 a0001c0001t0004g0331 a0001c0001t0004g0349 others(1): Show a0001c0001t0003g0012 a0001c0001t0004g0331 a0001c0001t0004g0349 a0001c0001t0015g0281	4	42	0.0952	17	c.-17 others(26): Show c.-172_-171insGGGGGGGGGGGGGGGGG	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding		62		chr15	TogoVar
SCAMP2_chr15_74838730_74878365	74874661	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0305 a0001c0001t0006g0305	1	134	0.0075	17	c.-14 others(28): Show c.-1407_-1406insATATTTTTTTTTTTTTT	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding		1297		chr15	TogoVar
SCAMP2_chr15_74838730_74878365	74874661	A A	AAAAAAAA others(10): Show AAAAAAAAAAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp1 NA18983.hp1 NA18966.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0022 a0001c0001t0006 a0001c0001t0022	a0001c0001t0006g0296 a0001c0001t0022g0273 a0001c0001t0006g0296 a0001c0001t0022g0273	2	135	0.0148	17	c.-14 others(28): Show c.-1407_-1406insATATATATTTTTTTTTT	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding		1297		chr15	TogoVar
SCAMP2_chr15_74838730_74878365	74874661	A A	AAAAATAT others(10): Show AAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0134 a0001c0001t0005g0134	1	134	0.0075	17	c.-14 others(28): Show c.-1407_-1406insATATATATATATATTTT	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding		1297		chr15	TogoVar
SCAMP3_chr1_155250981_155267360	155252722	A A	ATATATAT others(10): Show ATATATATATATATATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	161	0.0062	17	c.35 others(28): Show c.3550_*3551insAAATATATATATATATA	SCAMP3	ENSG00000116521.11	transcript	ENST00000302631.8	protein_coding		3258		chr1	TogoVar
SCAMP3_chr1_155250981_155267360	155252722	A A	ATATATAT others(10): Show ATATATATATTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0011 a0001c0001t0004g0011	1	161	0.0062	17	c.35 others(28): Show c.3550_*3551insAAAAAAAAATATATATA	SCAMP3	ENSG00000116521.11	transcript	ENST00000302631.8	protein_coding		3258		chr1	TogoVar
SCAMP3_chr1_155250981_155267360	155252722	A A	ATATATAT others(10): Show ATATATATTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0011 a0001c0001t0004g0011	2	162	0.0123	17	c.35 others(28): Show c.3550_*3551insAAAAAAAAAAATATATA	SCAMP3	ENSG00000116521.11	transcript	ENST00000302631.8	protein_coding		3258		chr1	TogoVar
SCAMP3_chr1_155250981_155267360	155252723	T T	TATATATA others(10): Show TATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 NA18944.hp2 NA19005.hp2 HG01074.hp1 NA18944.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0003 a0001c0008t0001g0041 a0001c0001t0001g0003 a0001c0008t0001g0041	3	346	0.0087	17	c.35 others(28): Show c.3549_*3550insTATATATATATATATAT	SCAMP3	ENSG00000116521.11	transcript	ENST00000302631.8	protein_coding		3257		chr1	TogoVar
SCAMP4_chr19_1900399_1931013	1906866	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA19067.hp2 NA19091.hp2 NA18945.hp2 NA19067.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0014 a0001c0001t0003g0098 a0001c0001t0001g0014 a0001c0001t0003g0098	3	134	0.0224	17	c.-42 others(34): Show c.-42+1427_-42+1428insGTGTGTGTGTGTGTGTG	SCAMP4	ENSG00000227500.11	transcript	ENST00000316097.13	protein_coding	1/6			chr19	TogoVar
SCAMP4_chr19_1900399_1931013	1906866	T T	TTTGTGTG others(10): Show TTTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02723.hp1 HG02970.hp2 HG01243.hp2 HG02723.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0188 a0001c0001t0007g0189 a0001c0001t0007g0190 a0001c0001t0007g0188 a0001c0001t0007g0189 a0001c0001t0007g0190	3	134	0.0224	17	c.-42 others(34): Show c.-42+1428_-42+1429insTGTGTGTGTGTGTGTGT	SCAMP4	ENSG00000227500.11	transcript	ENST00000316097.13	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
SCAMP5_chr15_74990563_75026495	74990964	T T	TTTTTTTC others(10): Show TTTTTTTCTCTTTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01433.hp1 HG01516.hp1 HG01109.hp2 HG01433.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0122 a0001c0001t0001g0132 a0001c0001t0001g0010 a0001c0001t0001g0122 a0001c0001t0001g0132	3	340	0.0088	17	c.-47 others(28): Show c.-4758_-4757insTTTTTTCTCTTTCTCTC	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4598		chr15	TogoVar
SCAPER_chr15_76342904_76910340	76359404	G G	GCCCCATC others(10): Show GCCCCATCACTGCCCCAT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0117 a0001c0001t0003g0117	1	310	0.0032	17	c.385 others(36): Show c.3856-5265_3856-5264insATGGGGCAGTGATGGGG	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	29/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76431676	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01109.hp2 HG01169.hp2 others(10): Show HG00621.hp1 HG01109.hp2 HG01169.hp2 HG02258.hp1 HG02486.hp2 HG02922.hp2 HG02976.hp2 HG03139.hp1 NA18522.hp1 NA18906.hp2 NA18948.hp2 NA19009.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0002c0003t0002	a0001c0001t0001g0015 a0001c0001t0003g0156 a0001c0001t0003g0164 others(10): Show a0001c0001t0001g0015 a0001c0001t0003g0156 a0001c0001t0003g0164 a0001c0001t0003g0177 a0001c0001t0004g0122 a0001c0001t0004g0126 a0001c0001t0004g0135 a0001c0001t0004g0142 a0001c0001t0004g0147 a0001c0001t0004g0148 a0001c0001t0004g0152 a0001c0001t0004g0155 a0002c0003t0002g0207	13	27	0.4815	17	c.331 others(36): Show c.3311+2385_3311+2401dupTTTTTTTTTTTTTTTTT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	26/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76652273	A A	AAAAATAT others(10): Show AAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	188	0.0053	17	c.264 others(38): Show c.2645+13379_2645+13380insATATATATATATATTTT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	21/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76690856	C C	CTATAGAA others(10): Show CTATAGAAAAAGTAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02451.hp2 HG02723.hp1 others(5): Show HG02109.hp2 HG02451.hp2 HG02723.hp1 HG02896.hp1 HG03098.hp2 HG03130.hp1 HG03579.hp1 NA19043.hp2	a0001 a0010 a0001 a0010	a0001c0004 a0010c0019 a0001c0004 a0010c0019	a0001c0004t0001 a0001c0004t0009 a0010c0019t0001 a0001c0004t0001 a0001c0004t0009 a0010c0019t0001	a0001c0004t0001g0128 a0001c0004t0001g0129 a0001c0004t0001g0130 others(5): Show a0001c0004t0001g0128 a0001c0004t0001g0129 a0001c0004t0001g0130 a0001c0004t0001g0131 a0001c0004t0001g0132 a0001c0004t0001g0161 a0001c0004t0009g0119 a0010c0019t0001g0127	8	310	0.0258	17	c.250 others(38): Show c.2508+10901_2508+10902insTTTTTACTTTTTCTATA	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	20/31			chr15	TogoVar
SCAP_chr3_47408681_47480941	47425795	C C	CAGGAAGG others(10): Show CAGGAAGGGGCTGAAAGT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	302	0.0033	17	c.910 others(32): Show c.910+185_911-185dupACTTTCAGCCCCTTCCT	SCAP	ENSG00000114650.21	transcript	ENST00000265565.10	protein_coding	7/22			chr3	TogoVar
SCAP_chr3_47408681_47480941	47473080	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02300.hp2 HG02486.hp1 others(1): Show HG01934.hp1 HG02300.hp2 HG02486.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0048 a0001c0001t0001g0198 a0001c0008t0001g0022 others(1): Show a0001c0001t0001g0048 a0001c0001t0001g0198 a0001c0008t0001g0022 a0001c0008t0001g0023	4	30	0.1333	17	c.-99 others(34): Show c.-99+2702_-99+2718dupTTTTTTTTTTTTTTTTT	SCAP	ENSG00000114650.21	transcript	ENST00000265565.10	protein_coding	1/22			chr3	TogoVar
SCARA5_chr8_27864883_27997673	27907572	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02040.hp1 HG02040.hp2 others(16): Show HG00558.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp2 HG02080.hp1 HG02523.hp1 HG03195.hp2 NA18942.hp1 NA18942.hp2 NA18946.hp1 NA18948.hp1 NA18957.hp1 NA18986.hp2 NA18994.hp2 NA19003.hp1 NA19012.hp1 NA19062.hp2 NA19064.hp2 NA19085.hp1	a0002 a0006 a0008 others(2): Show a0002 a0006 a0008 a0009 a0011	a0002c0006 a0002c0010 a0002c0013 others(7): Show a0002c0006 a0002c0010 a0002c0013 a0002c0015 a0002c0016 a0002c0017 a0006c0027 a0008c0030 a0009c0031 a0011c0032	a0002c0006t0001 a0002c0006t0002 a0002c0006t0005 others(12): Show a0002c0006t0001 a0002c0006t0002 a0002c0006t0005 a0002c0006t0009 a0002c0006t0018 a0002c0010t0003 a0002c0010t0006 a0002c0013t0003 a0002c0015t0001 a0002c0016t0009 a0002c0017t0001 a0006c0027t0003 a0008c0030t0006 a0009c0031t0006 a0011c0032t0004	a0002c0006t0001g0269 a0002c0006t0002g0104 a0002c0006t0005g0223 others(16): Show a0002c0006t0001g0269 a0002c0006t0002g0104 a0002c0006t0005g0223 a0002c0006t0009g0053 a0002c0006t0018g0221 a0002c0010t0003g0147 a0002c0010t0003g0197 a0002c0010t0003g0199 a0002c0010t0006g0075 a0002c0013t0003g0272 a0002c0013t0003g0300 a0002c0013t0003g0301 a0002c0015t0001g0296 a0002c0016t0009g0066 a0002c0017t0001g0302 a0006c0027t0003g0294 a0008c0030t0006g0040 a0009c0031t0006g0065 a0011c0032t0004g0276	19	49	0.3878	17	c.998 others(32): Show c.998-343_998-327dupAAAAAAAAAAAAAAAAA	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	5/8			chr8	TogoVar
SCARA5_chr8_27864883_27997673	27936592	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp2 HG00621.hp1 others(56): Show HG00323.hp2 HG00438.hp2 HG00621.hp1 HG00642.hp1 HG00735.hp1 HG00741.hp1 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01168.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG02083.hp1 HG02132.hp2 HG02451.hp1 HG02572.hp1 HG02630.hp2 HG02717.hp1 HG02886.hp2 HG02895.hp2 HG02965.hp1 HG02976.hp1 HG03209.hp1 HG03209.hp2 HG03490.hp1 HG03654.hp2 HG03704.hp1 HG03831.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 NA18522.hp2 NA18959.hp2 NA18977.hp1 NA18977.hp2 NA18989.hp1 NA18994.hp2 NA18999.hp1 NA19000.hp1 NA19005.hp2 NA19064.hp2 NA19070.hp1 NA19084.hp2 NA20752.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0008 a0001c0018 a0002c0006 a0002c0010 a0002c0016 a0003c0014	a0001c0001t0001 a0001c0001t0014 a0001c0001t0047 others(26): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0047 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0002t0022 a0001c0002t0024 a0001c0002t0048 a0001c0002t0056 a0001c0003t0040 a0001c0004t0003 a0001c0004t0006 a0001c0004t0011 a0001c0007t0002 a0001c0007t0005 a0001c0007t0012 a0001c0008t0004 a0001c0008t0027 a0001c0008t0046 a0001c0018t0007 a0002c0006t0001 a0002c0006t0005 a0002c0006t0018 a0002c0010t0003 a0002c0010t0006 a0002c0016t0021 a0003c0014t0031	a0001c0001t0001g0162 a0001c0001t0001g0206 a0001c0001t0014g0207 others(56): Show a0001c0001t0001g0162 a0001c0001t0001g0206 a0001c0001t0014g0207 a0001c0001t0047g0101 a0001c0002t0001g0150 a0001c0002t0001g0153 a0001c0002t0001g0194 a0001c0002t0001g0209 a0001c0002t0001g0219 a0001c0002t0001g0231 a0001c0002t0001g0245 a0001c0002t0001g0254 a0001c0002t0001g0283 a0001c0002t0002g0021 a0001c0002t0002g0027 a0001c0002t0002g0058 a0001c0002t0002g0062 a0001c0002t0002g0111 a0001c0002t0005g0183 a0001c0002t0005g0203 a0001c0002t0005g0204 a0001c0002t0005g0210 a0001c0002t0005g0211 a0001c0002t0005g0299 a0001c0002t0007g0047 a0001c0002t0022g0005 a0001c0002t0022g0006 a0001c0002t0022g0007 a0001c0002t0024g0121 a0001c0002t0048g0100 a0001c0002t0056g0281 a0001c0003t0040g0031 a0001c0004t0003g0145 a0001c0004t0003g0160 a0001c0004t0003g0228 a0001c0004t0006g0032 a0001c0004t0011g0175 a0001c0004t0011g0248 a0001c0007t0002g0020 a0001c0007t0005g0127 a0001c0007t0012g0267 a0001c0008t0004g0179 a0001c0008t0004g0268 a0001c0008t0027g0247 a0001c0008t0027g0288 a0001c0008t0046g0096 a0001c0018t0007g0028 a0001c0018t0007g0087 a0002c0006t0001g0236 a0002c0006t0005g0198 a0002c0006t0018g0221 a0002c0010t0003g0165 a0002c0010t0003g0199 a0002c0010t0003g0208 a0002c0010t0003g0271 a0002c0010t0006g0025 a0002c0016t0021g0051 a0003c0014t0031g0019 a0003c0014t0031g0022	59	85	0.6941	17	c.242 others(36): Show c.242-14364_242-14348dupTTTTTTTTTTTTTTTTT	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	3/8			chr8	TogoVar
SCARB2_chr4_76153737_76218824	76170945	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	84	0.0119	17	c.995 others(32): Show c.995-961_995-960insATATATATATATATATA	SCARB2	ENSG00000138760.11	transcript	ENST00000264896.8	protein_coding	7/11			chr4	TogoVar
SCART1_chr10_133448945_133474760	133464295	C C	CTGCAGTG others(10): Show CTGCAGTGAACCTGGGCG	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0003	1	202	0.0050	17	c.197 others(34): Show c.1970-278_1970-262dupCGTGCAGTGAACCTGGG	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
SCCPDH_chr1_246719409_246773137	246724260	T T	TGGGCGCG others(10): Show TGGGCGCGGCCCTGGCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG02572.hp1 HG01243.hp2 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0260 a0001c0001t0002g0261 a0001c0001t0001g0260 a0001c0001t0002g0261	2	408	0.0049	17	c.-16 others(26): Show c.-163_-162insGGGCGCGGCCCTGGCGC	SCCPDH	ENSG00000143653.10	transcript	ENST00000366510.4	protein_coding		148		chr1	TogoVar
SCFD1_chr14_30617319_30740850	30617930	A A	AGTAAATC others(10): Show AGTAAATCATTATGATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00544.hp2 HG00558.hp1 others(209): Show HG00323.hp1 HG00544.hp2 HG00558.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00741.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01496.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18948.hp2 NA18953.hp1 NA18954.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18988.hp2 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19060.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp2 NA19072.hp2 NA19078.hp1 NA19079.hp2 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0006 a0001c0010 others(9): Show a0001c0001 a0001c0006 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0002c0002 a0003c0004 a0003c0005 a0004c0008 a0006c0009	a0001c0001t0001 a0001c0006t0001 a0001c0010t0001 others(9): Show a0001c0001t0001 a0001c0006t0001 a0001c0010t0001 a0001c0011t0001 a0001c0012t0001 a0001c0013t0001 a0001c0014t0001 a0002c0002t0001 a0003c0004t0002 a0003c0005t0002 a0004c0008t0001 a0006c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(206): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0325 a0001c0006t0001g0089 a0001c0006t0001g0113 a0001c0010t0001g0130 a0001c0011t0001g0038 a0001c0012t0001g0207 a0001c0013t0001g0123 a0001c0014t0001g0069 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0205 a0003c0004t0002g0146 a0003c0004t0002g0147 a0003c0004t0002g0148 a0003c0005t0002g0144 a0003c0005t0002g0145 a0004c0008t0001g0040 a0006c0009t0001g0048	212	326	0.6503	17	c.-44 others(28): Show c.-4409_-4408insGTAAATCATTATGATAG	SCFD1	ENSG00000092108.22	transcript	ENST00000458591.7	protein_coding		4388		chr14	TogoVar
SCFD2_chr4_52867982_53371061	53338575	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02109.hp2 HG03540.hp1 others(2): Show HG01243.hp1 HG02109.hp2 HG03540.hp1 NA18970.hp1 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0003 a0001c0001t0001 a0001c0001t0002 a0001c0003t0003	a0001c0001t0001g0022 a0001c0001t0001g0087 a0001c0001t0001g0088 others(2): Show a0001c0001t0001g0022 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0002g0106 a0001c0003t0003g0086	5	11	0.4545	17	c.100 others(38): Show c.1007+14006_1007+14022dupAAAAAAAAAAAAAAAAA	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	2/8			chr4	TogoVar
SCG3_chr15_51676503_51726026	51709697	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	306	0.0033	17	c.120 others(36): Show c.1208-3635_1208-3634insTTTTTTTTTTTTTTTTT	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG3_chr15_51676503_51726026	51709699	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	278	0.0036	17	c.120 others(36): Show c.1208-3633_1208-3632insTTTTTTTTTTTTTTTTT	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCGB1C2_chr17_132569_144067	140755	T T	TGGGGGGG others(10): Show TGGGGGGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	401	0.0025	17	c.18 others(28): Show c.1813_*1814insGGGGGGGGGGGGGGGGG	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		1689		chr17	TogoVar
SCGB2A2_chr11_62265158_62278160	62272042	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01361.hp1 HG02293.hp1 others(3): Show HG01168.hp2 HG01361.hp1 HG02293.hp1 HG02896.hp2 HG03041.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0041 others(1): Show a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0041 a0001c0001t0001g0052	6	64	0.0938	17	c.244 others(32): Show c.244-910_244-894dupAAAAAAAAAAAAAAAAA	SCGB2A2	ENSG00000110484.7	transcript	ENST00000227918.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
SCHIP1_chr3_159268244_159902359	159424052	C C	CCATCTGT others(10): Show CCATCTGTACATCACCAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00642.hp1 HG01106.hp1 others(37): Show HG00438.hp2 HG00642.hp1 HG01106.hp1 HG01167.hp2 HG01169.hp2 HG01255.hp1 HG01256.hp2 HG01433.hp1 HG01884.hp1 HG01891.hp1 HG01978.hp2 HG02027.hp1 HG02145.hp2 HG02486.hp2 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02886.hp1 HG03098.hp1 HG03098.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA19007.hp1 NA19007.hp2 NA19030.hp2 NA19043.hp2 NA19058.hp2 NA20300.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0002c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(37): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0004g0059 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0032 a0001c0002t0001g0048 a0001c0002t0001g0058 a0001c0002t0001g0061 a0001c0002t0002g0047 a0002c0003t0001g0091	40	100	0.4000	17	c.63+ others(36): Show c.63+150173_63+150174insTGTACATCACCATCATC	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159505503	A A	AGGGGGGG others(10): Show AGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0028 a0001c0002t0001g0028	1	100	0.0100	17	c.63+ others(36): Show c.63+231623_63+231624insGGGGGGGGGGGGGGGGG	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCIMP_chr17_5203920_5239860	5225879	C C	CAGCAGTC others(10): Show CAGCAGTCTTGGGAACTG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0299 a0001c0003t0005g0299	1	384	0.0026	17	c.22- others(32): Show c.22-2440_22-2424dupCAGTTCCCAAGACTGCT	SCIMP	ENSG00000161929.15	transcript	ENST00000574081.6	protein_coding	1/4			chr17	TogoVar
SCIN_chr7_12565720_12665182	12578909	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00673.hp1 HG01255.hp2 others(8): Show HG00597.hp2 HG00673.hp1 HG01255.hp2 HG01261.hp2 HG02723.hp2 HG02809.hp1 HG02970.hp2 HG02976.hp1 NA18944.hp2 NA19088.hp1 NA20129.hp2	a0002 a0008 a0010 a0002 a0008 a0010	a0002c0002 a0002c0003 a0002c0019 others(2): Show a0002c0002 a0002c0003 a0002c0019 a0008c0009 a0010c0011	a0002c0002t0158 a0002c0003t0008 a0002c0003t0057 others(8): Show a0002c0002t0158 a0002c0003t0008 a0002c0003t0057 a0002c0003t0058 a0002c0003t0059 a0002c0003t0061 a0002c0019t0064 a0008c0009t0006 a0008c0009t0110 a0008c0009t0159 a0010c0011t0135	a0002c0002t0158g0298 a0002c0003t0008g0250 a0002c0003t0057g0360 others(8): Show a0002c0002t0158g0298 a0002c0003t0008g0250 a0002c0003t0057g0360 a0002c0003t0058g0361 a0002c0003t0059g0362 a0002c0003t0061g0359 a0002c0019t0064g0354 a0008c0009t0006g0242 a0008c0009t0110g0240 a0008c0009t0159g0241 a0010c0011t0135g0353	11	176	0.0625	17	c.354 others(32): Show c.354+706_354+707insTTTTTTTTTTTTTTTTT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
SCIN_chr7_12565720_12665182	12657572	A A	ATATATAT others(10): Show ATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01168.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0115 a0001c0001t0030g0194 a0001c0001t0030g0115 a0001c0001t0030g0194	2	183	0.0109	17	c.48 others(28): Show c.4858_*4859insATATATATATATATATT	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(10): Show ATATATATATATATATTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0329 a0002c0002t0002g0332 a0002c0002t0002g0329 a0002c0002t0002g0332	2	183	0.0109	17	c.48 others(28): Show c.4858_*4859insATATATATATATATTTT	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(10): Show ATATATATATATATTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02258.hp2 HG04199.hp1 NA19068.hp2 HG02258.hp2 HG04199.hp1 NA19068.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0044 a0002c0002t0002 a0001c0001t0002 a0001c0001t0044 a0002c0002t0002	a0001c0001t0002g0092 a0001c0001t0044g0130 a0002c0002t0002g0320 a0001c0001t0002g0092 a0001c0001t0044g0130 a0002c0002t0002g0320	3	184	0.0163	17	c.48 others(28): Show c.4858_*4859insATATATATATATTTTTT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	16/16	4859	INFO_REALIGN_3_PRIME	chr7	TogoVar

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