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
SATB2_chr2_199264505_199462939	199386708	GCGCGCGC others(13): Show GCGCGCGCGCACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp1 HG00735.hp2 others(25): Show HG00438.hp2 HG00609.hp1 HG00735.hp2 HG01258.hp2 HG01517.hp1 HG01884.hp1 HG02080.hp2 HG02165.hp2 HG02273.hp2 HG02293.hp2 HG02622.hp1 HG02976.hp1 HG03491.hp1 HG03704.hp2 HG06807.hp2 NA18522.hp1 NA18942.hp1 NA18945.hp2 NA18950.hp2 NA18955.hp1 NA18955.hp2 NA18961.hp1 NA18962.hp1 NA18970.hp1 NA19010.hp2 NA19057.hp1 NA19074.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0018 a0001c0001t0023 a0001c0001t0031	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0047 others(25): Show a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0094 a0001c0001t0001g0105 a0001c0001t0001g0186 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0002g0031 a0001c0001t0002g0166 a0001c0001t0002g0180 a0001c0001t0002g0185 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0193 a0001c0001t0002g0213 a0001c0001t0003g0093 a0001c0001t0018g0067 a0001c0001t0023g0026 a0001c0001t0031g0048	28	199	0.1407	-20	c.347 others(37): Show c.347-4908_347-4889delTGTGTGTGTGTGCGCGCGCG	SATB2	ENSG00000119042.18	transcript	ENST00000417098.6	protein_coding	3/10			chr2	TogoVar
SATB2_chr2_199264505_199462939	199386710	GCGCGCGC others(13): Show GCGCGCGCACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01169.hp1 HG02809.hp1 others(2): Show HG01074.hp1 HG01169.hp1 HG02809.hp1 HG03669.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0025 a0001c0001t0001 a0001c0001t0002 a0001c0001t0025	a0001c0001t0001g0089 a0001c0001t0002g0033 a0001c0001t0002g0083 others(2): Show a0001c0001t0001g0089 a0001c0001t0002g0033 a0001c0001t0002g0083 a0001c0001t0002g0175 a0001c0001t0025g0167	5	217	0.0230	-20	c.347 others(37): Show c.347-4910_347-4891delTGTGTGTGTGTGTGCGCGCG	SATB2	ENSG00000119042.18	transcript	ENST00000417098.6	protein_coding	3/10			chr2	TogoVar
SATB2_chr2_199264505_199462939	199386712	GCGCGCAC others(13): Show GCGCGCACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0110 a0001c0001t0027g0110	1	239	0.0042	-20	c.347 others(37): Show c.347-4912_347-4893delTGTGTGTGTGTGTGTGCGCG	SATB2	ENSG00000119042.18	transcript	ENST00000417098.6	protein_coding	3/10			chr2	TogoVar
SATB2_chr2_199264505_199462939	199386714	GCGCACAC others(13): Show GCGCACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0128	1	246	0.0041	-20	c.347 others(37): Show c.347-4914_347-4895delTGTGTGTGTGTGTGTGTGCG	SATB2	ENSG00000119042.18	transcript	ENST00000417098.6	protein_coding	3/10			chr2	TogoVar
SATL1_chrX_85087284_85248779	85220644	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01168.hp1 HG01169.hp1 others(9): Show HG00738.hp1 HG01168.hp1 HG01169.hp1 HG02717.hp1 HG02809.hp2 HG02895.hp1 HG02897.hp1 HG03225.hp1 HG03486.hp2 HG06807.hp1 NA18906.hp1 NA19077.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0010 a0001c0001 a0006c0010	a0001c0001t0002 a0006c0010t0002 a0001c0001t0002 a0006c0010t0002	a0001c0001t0002g0001 a0001c0001t0002g0029 a0001c0001t0002g0042 others(8): Show a0001c0001t0002g0001 a0001c0001t0002g0029 a0001c0001t0002g0042 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0006c0010t0002g0050	12	31	0.3871	-20	c.-31 others(39): Show c.-313+3541_-313+3560delTTTTTTTTTTTTTTTTTTTT	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding	2/7			chrX	TogoVar
SAXO2_chr15_82257818_82289927	82286337	TTTGAAAG others(13): Show TTTGAAAGTTTTCTTAAAAGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0096 a0002c0002t0001g0096	1	404	0.0025	-20	c.32 others(31): Show c.3276_*3295delTTGAAAGTTTTCTTAAAAGC	SAXO2	ENSG00000188659.10	transcript	ENST00000682753.1	protein_coding		1411		chr15	TogoVar
SBF2_chr11_9773668_10299219	9967935	GTCTGTCT others(13): Show GTCTGTCTGTCTGTCTCTCTC	G G	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0163 a0001c0003t0005g0163	1	222	0.0045	-20	c.160 others(37): Show c.1600+386_1600+405delGAGAGAGACAGACAGACAGA	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	14/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	9967959	CTCTCTCT others(13): Show CTCTCTCTCTCTCTATATATA	C C	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0217 a0001c0001t0004g0217	1	210	0.0048	-20	c.160 others(37): Show c.1600+362_1600+381delTATATATAGAGAGAGAGAGA	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	14/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	9999279	CTGTATGT others(13): Show CTGTATGTATGTATGTATGTA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG00558.hp1 others(58): Show HG00423.hp1 HG00544.hp2 HG00558.hp1 HG00639.hp2 HG00673.hp2 HG00735.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01361.hp1 HG01515.hp2 HG01975.hp2 HG01981.hp2 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02486.hp2 HG02602.hp2 HG02683.hp1 HG02922.hp2 HG02970.hp1 HG03139.hp1 HG03225.hp1 HG03490.hp1 HG03516.hp1 HG03540.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG04115.hp1 NA18522.hp1 NA18939.hp1 NA18946.hp1 NA18948.hp2 NA18951.hp2 NA18960.hp1 NA18966.hp2 NA18969.hp2 NA18973.hp1 NA18986.hp2 NA18995.hp1 NA18999.hp1 NA19005.hp1 NA19012.hp1 NA19056.hp2 NA19058.hp1 NA19064.hp2 NA19066.hp1 NA19068.hp2 NA19088.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0005 a0002c0002 others(2): Show a0001c0001 a0001c0005 a0002c0002 a0003c0004 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0001t0017 a0001c0005t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0003c0004t0003 a0004c0006t0004	a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0034 others(58): Show a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0140 a0001c0001t0001g0211 a0001c0001t0002g0023 a0001c0001t0002g0032 a0001c0001t0002g0037 a0001c0001t0002g0130 a0001c0001t0002g0189 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0003g0020 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0030 a0001c0001t0003g0033 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0067 a0001c0001t0003g0091 a0001c0001t0003g0149 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0188 a0001c0001t0004g0116 a0001c0001t0004g0144 a0001c0001t0004g0214 a0001c0001t0004g0216 a0001c0001t0004g0217 a0001c0001t0004g0219 a0001c0001t0005g0192 a0001c0001t0007g0208 a0001c0001t0007g0212 a0001c0001t0012g0001 a0001c0001t0017g0173 a0001c0005t0001g0209 a0001c0005t0001g0210 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0002g0139 a0002c0002t0003g0035 a0002c0002t0004g0009 a0002c0002t0004g0013 a0002c0002t0004g0019 a0002c0002t0004g0215 a0003c0004t0003g0008 a0003c0004t0003g0010 a0003c0004t0003g0021 a0003c0004t0003g0022 a0003c0004t0003g0027 a0003c0004t0003g0031 a0003c0004t0003g0068 a0003c0004t0003g0136 a0004c0006t0004g0213 a0004c0006t0004g0218	61	128	0.4766	-20	c.862 others(35): Show c.862-920_862-901delTACATACATACATACATACA	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	8/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10223399	TTATATAT others(13): Show TTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	1	45	0.0222	-20	c.56- others(37): Show c.56-29432_56-29413delTATATATATATATATATATA	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10291657	AACACACA others(13): Show AACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0217 a0001c0001t0004g0217	1	30	0.0333	-20	c.55+ others(35): Show c.55+2338_55+2357delGTGTGTGTGTGTGTGTGTGT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SBK1_chr16_28287525_28328849	28321182	AACACACA others(13): Show AACACACACACACACACACAC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02056.hp2 HG02109.hp1 HG02165.hp2 others(2): Show HG02056.hp2 HG02109.hp1 HG02165.hp2 HG03471.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0020 a0001c0001t0026 a0001c0001t0001 a0001c0001t0020 a0001c0001t0026	a0001c0001t0001g0040 a0001c0001t0001g0164 a0001c0001t0001g0237 others(2): Show a0001c0001t0001g0040 a0001c0001t0001g0164 a0001c0001t0001g0237 a0001c0001t0020g0059 a0001c0001t0026g0294	5	22	0.2273	-20	c.29 others(29): Show c.298_*317delACACACACACACACACACAC	SBK1	ENSG00000188322.8	transcript	ENST00000341901.5	protein_coding	4/4	298	INFO_REALIGN_3_PRIME	chr16	TogoVar
SBK1_chr16_28287525_28328849	28322913	GCGCGCGC others(13): Show GCGCGCGCTCTCTCTCTCCCT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0113 a0001c0001t0050g0113	1	253	0.0040	-20	c.19 others(31): Show c.1994_*2013delGCGCGCTCTCTCTCTCCCTC	SBK1	ENSG00000188322.8	transcript	ENST00000341901.5	protein_coding	4/4	1994	INFO_REALIGN_3_PRIME	chr16	TogoVar
SBK1_chr16_28287525_28328849	28322917	GCGCTCTC others(13): Show GCGCTCTCTCTCTCCCTCTCT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00438.hp1 others(41): Show HG00099.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00673.hp1 HG00738.hp2 HG01081.hp1 HG01884.hp2 HG02015.hp1 HG02015.hp2 HG02717.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG03130.hp1 HG03688.hp2 NA18747.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18951.hp2 NA18952.hp2 NA18960.hp2 NA18962.hp1 NA18964.hp1 NA18967.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18980.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18998.hp2 NA19009.hp1 NA19011.hp2 NA19012.hp1 NA19056.hp2 NA19063.hp1 NA19065.hp2 NA19080.hp2 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0015 others(2): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0015 a0001c0001t0052 a0001c0001t0059	a0001c0001t0003g0001 a0001c0001t0003g0005 a0001c0001t0003g0012 others(39): Show a0001c0001t0003g0001 a0001c0001t0003g0005 a0001c0001t0003g0012 a0001c0001t0003g0021 a0001c0001t0003g0023 a0001c0001t0003g0078 a0001c0001t0003g0096 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0104 a0001c0001t0003g0106 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0114 a0001c0001t0003g0118 a0001c0001t0003g0125 a0001c0001t0003g0128 a0001c0001t0003g0130 a0001c0001t0003g0140 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0146 a0001c0001t0003g0216 a0001c0001t0003g0269 a0001c0001t0008g0050 a0001c0001t0008g0160 a0001c0001t0008g0227 a0001c0001t0008g0229 a0001c0001t0008g0231 a0001c0001t0008g0233 a0001c0001t0008g0235 a0001c0001t0008g0236 a0001c0001t0015g0025 a0001c0001t0015g0134 a0001c0001t0015g0135 a0001c0001t0015g0136 a0001c0001t0015g0137 a0001c0001t0052g0133 a0001c0001t0059g0001	44	269	0.1636	-20	c.19 others(31): Show c.1998_*2017delGCTCTCTCTCTCCCTCTCTC	SBK1	ENSG00000188322.8	transcript	ENST00000341901.5	protein_coding	4/4	1998	INFO_REALIGN_3_PRIME	chr16	TogoVar
SBK1_chr16_28287525_28328849	28322919	GCTCTCTC others(13): Show GCTCTCTCTCTCCCTCTCTCT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01256.hp1 HG02258.hp1 HG02258.hp2 others(3): Show HG01256.hp1 HG02258.hp1 HG02258.hp2 HG03098.hp1 HG03225.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0132 a0001c0001t0004g0039 a0001c0001t0004g0041 others(3): Show a0001c0001t0002g0132 a0001c0001t0004g0039 a0001c0001t0004g0041 a0001c0001t0004g0045 a0001c0001t0004g0240 a0001c0001t0004g0246	6	331	0.0181	-20	c.20 others(31): Show c.2010_*2029delCCTCTCTCTCTCTCTCTCTC	SBK1	ENSG00000188322.8	transcript	ENST00000341901.5	protein_coding	4/4	2010	INFO_REALIGN_3_PRIME	chr16	TogoVar
SBNO1_chr12_123284109_123369847	123367335	CTTATTTA others(13): Show CTTATTTATTTATTTATTTAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0067 a0001c0003t0067	a0001c0003t0067g0083 a0001c0003t0067g0083	1	63	0.0159	-20	c.-26 others(31): Show c.-2655_-2636delATAAATAAATAAATAAATAA	SBNO1	ENSG00000139697.14	transcript	ENST00000602398.3	protein_coding		2489		chr12	TogoVar
SCAF11_chr12_45914131_45995574	45972931	TATATATA others(13): Show TATATATAGATATATATATAG	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	275	0.0036	-20	c.-21 others(37): Show c.-21-8763_-21-8744delCTATATATATATCTATATAT	SCAF11	ENSG00000139218.18	transcript	ENST00000369367.8	protein_coding	1/14			chr12	TogoVar
SCAF4_chr21_31666000_31737118	31735263	GAAAAAAA others(13): Show GAAAAAAAAAAAAAAAAAAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0074 a0001c0001t0001g0075	2	16	0.1250	-20	c.-35 others(31): Show c.-3591_-3572delTTTTTTTTTTTTTTTTTTTT	SCAF4	ENSG00000156304.15	transcript	ENST00000286835.12	protein_coding		3146		chr21	TogoVar
SCAF8_chr6_154728416_154839221	154770388	ACTCTCTC others(13): Show ACTCTCTCTCTCTCTCTCTCT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	49	0.0204	-20	c.31- others(35): Show c.31-3584_31-3565delCTCTCTCTCTCTCTCTCTCT	SCAF8	ENSG00000213079.10	transcript	ENST00000367178.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCAF8_chr6_154728416_154839221	154790489	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	13	0.0769	-20	c.322 others(37): Show c.322-2314_322-2295delTTTTTTTTTTTTTTTTTTTT	SCAF8	ENSG00000213079.10	transcript	ENST00000367178.8	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCAF8_chr6_154728416_154839221	154794778	GGGGTGTG others(13): Show GGGGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	149	0.0067	-20	c.476 others(35): Show c.476-229_476-210delGGTGTGTGTGTGTGTGTGTG	SCAF8	ENSG00000213079.10	transcript	ENST00000367178.8	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCAF8_chr6_154728416_154839221	154794780	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	186	0.0054	-20	c.476 others(35): Show c.476-198_476-179delGTGTGTGTGTGTGTGTGTGT	SCAF8	ENSG00000213079.10	transcript	ENST00000367178.8	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCAF8_chr6_154728416_154839221	154831703	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02280.hp2 HG02615.hp1 others(2): Show HG01109.hp1 HG02280.hp2 HG02615.hp1 HG03130.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0003 a0001c0008t0002 a0001c0001t0003 a0001c0008t0002	a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0003g0269 others(2): Show a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0008t0002g0257	5	28	0.1786	-20	c.236 others(37): Show c.2360-216_2360-197delAAAAAAAAAAAAAAAAAAAA	SCAF8	ENSG00000213079.10	transcript	ENST00000367178.8	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCAI_chr9_124937608_125148528	125004734	CATATATA others(13): Show CATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00642.hp1 others(11): Show HG00408.hp2 HG00423.hp2 HG00642.hp1 HG01243.hp2 HG02132.hp1 HG02165.hp1 HG02602.hp1 HG02622.hp1 HG02683.hp2 NA18943.hp2 NA18949.hp1 NA18972.hp1 NA19079.hp1 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0052 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0052 a0001c0001t0055 a0002c0002t0001 a0002c0002t0084	a0001c0001t0001g0009 a0001c0001t0001g0076 a0001c0001t0001g0128 others(11): Show a0001c0001t0001g0009 a0001c0001t0001g0076 a0001c0001t0001g0128 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0052g0022 a0001c0001t0055g0002 a0002c0002t0001g0228 a0002c0002t0001g0264 a0002c0002t0084g0231	14	218	0.0642	-20	c.862 others(37): Show c.862-1184_862-1165delATATATATATATATATATAT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	9/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125004761	ATATATAT others(13): Show ATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18981.hp1 NA19072.hp2 NA18977.hp2 NA18981.hp1 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0021 a0001c0001t0002g0057 a0001c0001t0002g0015 a0001c0001t0002g0021 a0001c0001t0002g0057	3	286	0.0105	-20	c.862 others(37): Show c.862-1211_862-1192delAATATATATATATATATATA	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	9/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125125909	TACACACA others(13): Show TACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	28	0.0357	-20	c.98+ others(37): Show c.98+16704_98+16723delGTGTGTGTGTGTGTGTGTGT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAMP1_chr5_78355617_78485739	78423012	GCGCGCAC others(13): Show GCGCGCACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00642.hp2 others(62): Show HG00140.hp1 HG00280.hp2 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01515.hp1 HG01891.hp1 HG01934.hp1 HG01981.hp1 HG02004.hp2 HG02071.hp2 HG02145.hp1 HG02148.hp1 HG02257.hp1 HG02280.hp1 HG02486.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG02886.hp2 HG03130.hp2 HG03486.hp1 HG03491.hp1 HG03710.hp1 HG03942.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18941.hp2 NA18942.hp2 NA18962.hp2 NA18978.hp2 NA18983.hp1 NA18986.hp2 NA18987.hp2 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA19043.hp2 NA19054.hp1 NA19067.hp1 NA19070.hp1 NA19091.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0021 a0001c0001t0028 others(1): Show a0001c0001t0002 a0001c0001t0021 a0001c0001t0028 a0001c0001t0040	a0001c0001t0002g0002 a0001c0001t0002g0067 a0001c0001t0002g0068 others(61): Show a0001c0001t0002g0002 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0021g0109 a0001c0001t0021g0110 a0001c0001t0028g0114 a0001c0001t0040g0107	65	186	0.3495	-20	c.632 others(37): Show c.632+1054_632+1073delGCGCACACACACACACACAC	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460742	CTCCTTCC others(13): Show CTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03225.hp2 HG02738.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0032 a0001c0002t0013 a0001c0002t0032	a0001c0002t0013g0051 a0001c0002t0032g0022 a0001c0002t0013g0051 a0001c0002t0032g0022	2	288	0.0069	-20	c.852 others(37): Show c.852+1425_852+1444delTCCTTCCTTCCTTCCTTCCT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78469893	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0061 a0001c0002t0004g0061	1	332	0.0030	-20	c.853 others(37): Show c.853-5588_853-5569delAAAAAAAAAAAAAAAAACAA	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78469916	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAACAAC	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01358.hp2 HG02071.hp2 others(10): Show HG01175.hp2 HG01358.hp2 HG02071.hp2 HG02145.hp1 HG02572.hp1 HG03831.hp2 HG04204.hp2 HG04228.hp2 NA18941.hp2 NA18978.hp2 NA18986.hp2 NA18987.hp2 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0083 others(10): Show a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0089 a0001c0001t0002g0097 a0001c0001t0002g0100 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0121 a0001c0001t0002g0126 a0001c0001t0002g0129 a0001c0001t0011g0217	13	331	0.0393	-20	c.853 others(37): Show c.853-5585_853-5566delAAAAAAAAAAAAAACAACAA	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP2_chr15_74838730_74878365	74859694	ACAATCTC others(13): Show ACAATCTCCACCTCCCAGGTT	A A	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	384	0.0026	-20	c.58- others(35): Show c.58-5065_58-5046delAACCTGGGAGGTGGAGATTG	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding	1/8			chr15	TogoVar
SCAMP2_chr15_74838730_74878365	74865950	CGAAGGAA others(13): Show CGAAGGAAGGAAGGAAGGAAG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00438.hp2 others(47): Show HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG01074.hp2 HG01175.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01496.hp1 HG02015.hp1 HG02015.hp2 HG02056.hp1 HG02132.hp2 HG02155.hp1 HG02165.hp2 HG02683.hp2 HG02698.hp1 HG02896.hp2 HG03239.hp2 NA18940.hp1 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18952.hp1 NA18964.hp1 NA18965.hp2 NA18970.hp1 NA18971.hp2 NA18979.hp1 NA18980.hp1 NA18983.hp2 NA18986.hp1 NA18991.hp1 NA18992.hp2 NA19003.hp1 NA19007.hp2 NA19011.hp2 NA19064.hp2 NA19065.hp2 NA19070.hp1 NA19082.hp1 NA19083.hp1 NA19084.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0036 a0001c0006t0002	a0001c0001t0001g0226 a0001c0001t0001g0267 a0001c0001t0002g0002 others(42): Show a0001c0001t0001g0226 a0001c0001t0001g0267 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0051 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0227 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0249 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0265 a0001c0001t0004g0243 a0001c0001t0006g0242 a0001c0001t0008g0071 a0001c0001t0012g0275 a0001c0001t0012g0276 a0001c0001t0012g0280 a0001c0001t0012g0347 a0001c0001t0014g0228 a0001c0001t0014g0248 a0001c0001t0016g0250 a0001c0001t0036g0277 a0001c0006t0002g0235	50	95	0.5263	-20	c.57+ others(35): Show c.57+7229_57+7248delCTTCCTTCCTTCCTTCCTTC	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding	1/8			chr15	TogoVar
SCAMP5_chr15_74990563_75026495	74990994	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp2 HG01516.hp2 HG01884.hp1 others(3): Show HG01169.hp2 HG01516.hp2 HG01884.hp1 HG02809.hp2 HG02965.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0034 a0001c0001t0001g0035 others(3): Show a0001c0001t0001g0019 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0174 a0001c0001t0001g0184 a0001c0001t0001g0221	6	199	0.0302	-20	c.-47 others(31): Show c.-4727_-4708delTCTTTCTTTCTTTCTTTCTT	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4568		chr15	TogoVar
SCAPER_chr15_76342904_76910340	76390797	CTATGTTG others(13): Show CTATGTTGTGTTGCCAAGTAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp2 HG00597.hp1 others(109): Show HG00140.hp2 HG00544.hp2 HG00597.hp1 HG00639.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01074.hp2 HG01106.hp2 HG01169.hp1 HG01175.hp1 HG01258.hp1 HG01261.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG01978.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02258.hp2 HG02280.hp1 HG02300.hp1 HG02451.hp1 HG02559.hp1 HG02572.hp1 HG02647.hp1 HG02683.hp1 HG02735.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02965.hp2 HG03017.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03486.hp1 HG03490.hp2 HG03654.hp1 HG03688.hp2 HG03704.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 NA18522.hp2 NA18906.hp1 NA18939.hp2 NA18940.hp2 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18950.hp2 NA18952.hp1 NA18960.hp1 NA18961.hp2 NA18963.hp2 NA18965.hp2 NA18967.hp1 NA18969.hp1 NA18970.hp1 NA18972.hp2 NA18973.hp1 NA18977.hp1 NA18979.hp1 NA18984.hp2 NA18985.hp1 NA18990.hp1 NA18993.hp1 NA18998.hp2 NA19001.hp1 NA19005.hp2 NA19010.hp2 NA19012.hp1 NA19030.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19068.hp1 NA19070.hp1 NA19077.hp1 NA19079.hp1 NA19083.hp2 NA19085.hp1 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0011	a0001c0001 a0002c0002 a0002c0003 others(8): Show a0001c0001 a0002c0002 a0002c0003 a0002c0011 a0002c0015 a0002c0022 a0002c0023 a0002c0025 a0003c0006 a0005c0009 a0011c0024	a0001c0001t0001 a0002c0002t0002 a0002c0003t0002 others(11): Show a0001c0001t0001 a0002c0002t0002 a0002c0003t0002 a0002c0003t0005 a0002c0003t0006 a0002c0003t0007 a0002c0011t0002 a0002c0015t0002 a0002c0022t0002 a0002c0023t0002 a0002c0025t0002 a0003c0006t0001 a0005c0009t0001 a0011c0024t0002	a0001c0001t0001g0213 a0001c0001t0001g0214 a0002c0002t0002g0190 others(109): Show a0001c0001t0001g0213 a0001c0001t0001g0214 a0002c0002t0002g0190 a0002c0002t0002g0194 a0002c0002t0002g0219 a0002c0002t0002g0221 a0002c0002t0002g0222 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0229 a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0002g0250 a0002c0002t0002g0251 a0002c0002t0002g0252 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0002g0257 a0002c0002t0002g0258 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0261 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0002g0265 a0002c0002t0002g0266 a0002c0002t0002g0267 a0002c0002t0002g0268 a0002c0002t0002g0269 a0002c0002t0002g0270 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0002g0273 a0002c0002t0002g0275 a0002c0002t0002g0277 a0002c0002t0002g0278 a0002c0002t0002g0279 a0002c0002t0002g0280 a0002c0002t0002g0281 a0002c0002t0002g0282 a0002c0002t0002g0283 a0002c0002t0002g0286 a0002c0002t0002g0287 a0002c0002t0002g0288 a0002c0002t0002g0289 a0002c0002t0002g0291 a0002c0002t0002g0292 a0002c0002t0002g0293 a0002c0002t0002g0295 a0002c0002t0002g0296 a0002c0002t0002g0297 a0002c0002t0002g0298 a0002c0002t0002g0299 a0002c0002t0002g0300 a0002c0002t0002g0301 a0002c0002t0002g0302 a0002c0002t0002g0303 a0002c0002t0002g0304 a0002c0002t0002g0305 a0002c0002t0002g0306 a0002c0002t0002g0307 a0002c0002t0002g0308 a0002c0002t0002g0309 a0002c0003t0002g0186 a0002c0003t0002g0198 a0002c0003t0002g0200 a0002c0003t0002g0201 a0002c0003t0002g0202 a0002c0003t0002g0203 a0002c0003t0002g0204 a0002c0003t0002g0212 a0002c0003t0005g0195 a0002c0003t0006g0196 a0002c0003t0007g0249 a0002c0011t0002g0225 a0002c0011t0002g0274 a0002c0011t0002g0285 a0002c0015t0002g0220 a0002c0015t0002g0276 a0002c0022t0002g0290 a0002c0023t0002g0228 a0002c0025t0002g0262 a0003c0006t0001g0125 a0003c0006t0001g0134 a0003c0006t0001g0139 a0003c0006t0001g0140 a0003c0006t0001g0145 a0005c0009t0001g0170 a0005c0009t0001g0171 a0005c0009t0001g0172 a0011c0024t0002g0284	112	310	0.3613	-20	c.346 others(39): Show c.3468-9202_3468-9183delTTACTTGGCAACACAACATA	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	27/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76495987	GAGAGAGA others(13): Show GAGAGAGACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0212 a0002c0003t0002g0212	1	310	0.0032	-20	c.295 others(39): Show c.2954+8852_2954+8871delGTGTGTGTGTGTGTCTCTCT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	24/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76495989	GAGAGACA others(13): Show GAGAGACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02280.hp1 HG02451.hp1 others(12): Show HG00597.hp1 HG02280.hp1 HG02451.hp1 HG02886.hp1 HG02895.hp1 HG03209.hp2 HG03490.hp2 NA18940.hp2 NA18944.hp2 NA18946.hp2 NA18979.hp1 NA18993.hp1 NA19001.hp1 NA19030.hp2 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0001 a0002c0002t0002 a0002c0003t0002 others(1): Show a0001c0001t0001 a0002c0002t0002 a0002c0003t0002 a0002c0003t0005	a0001c0001t0001g0213 a0001c0001t0001g0214 a0002c0002t0002g0300 others(12): Show a0001c0001t0001g0213 a0001c0001t0001g0214 a0002c0002t0002g0300 a0002c0002t0002g0301 a0002c0002t0002g0302 a0002c0002t0002g0303 a0002c0002t0002g0304 a0002c0002t0002g0305 a0002c0002t0002g0306 a0002c0002t0002g0307 a0002c0002t0002g0308 a0002c0003t0002g0200 a0002c0003t0002g0201 a0002c0003t0002g0202 a0002c0003t0005g0195	15	200	0.0750	-20	c.295 others(39): Show c.2954+8850_2954+8869delGTGTGTGTGTGTGTGTCTCT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	24/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76637742	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02451.hp2 HG02723.hp1 others(11): Show HG02109.hp2 HG02451.hp2 HG02723.hp1 HG02809.hp1 HG02886.hp2 HG02896.hp1 HG02965.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03471.hp2 HG03486.hp2 NA18906.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0003 a0001c0004 a0002c0003	a0001c0004t0001 a0002c0003t0002 a0002c0003t0011 a0001c0004t0001 a0002c0003t0002 a0002c0003t0011	a0001c0004t0001g0128 a0001c0004t0001g0129 a0001c0004t0001g0130 others(11): Show a0001c0004t0001g0128 a0001c0004t0001g0129 a0001c0004t0001g0130 a0001c0004t0001g0131 a0001c0004t0001g0132 a0001c0004t0001g0161 a0002c0003t0002g0205 a0002c0003t0002g0206 a0002c0003t0002g0207 a0002c0003t0002g0208 a0002c0003t0002g0209 a0002c0003t0002g0210 a0002c0003t0002g0211 a0002c0003t0011g0312	14	62	0.2258	-20	c.264 others(41): Show c.2646-15933_2646-15914delCACACACACACACACACACA	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	21/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76873274	AAAGGAAG others(13): Show AAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0186 a0002c0003t0002g0186	1	80	0.0125	-20	c.6+1 others(35): Show c.6+10518_6+10537delCCTTCCTTCCTTCCTTCCTT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	2/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76873331	AAGGCAGG others(13): Show AAGGCAGGCAGGCAGGCAGGC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG01074.hp2 others(46): Show HG00140.hp2 HG00639.hp1 HG01074.hp2 HG01175.hp1 HG01243.hp2 HG01433.hp2 HG01884.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp2 HG02074.hp2 HG02135.hp2 HG02145.hp1 HG02257.hp1 HG02486.hp2 HG02559.hp1 HG02630.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03195.hp1 HG03239.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03688.hp2 HG03704.hp2 HG06807.hp1 NA18906.hp2 NA18942.hp2 NA18944.hp2 NA18961.hp2 NA18963.hp2 NA18965.hp2 NA18970.hp1 NA18984.hp2 NA18993.hp1 NA18998.hp2 NA19010.hp2 NA19012.hp1 NA19065.hp1 NA19070.hp1 NA19083.hp2 NA20129.hp2 NA20752.hp1 NA20805.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0002c0003 others(4): Show a0001c0001 a0002c0002 a0002c0003 a0002c0011 a0002c0015 a0002c0023 a0008c0021	a0001c0001t0001 a0001c0001t0003 a0002c0002t0002 others(6): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0002 a0002c0003t0002 a0002c0003t0011 a0002c0011t0002 a0002c0015t0002 a0002c0023t0002 a0008c0021t0001	a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0013 others(46): Show a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0187 a0002c0002t0002g0219 a0002c0002t0002g0221 a0002c0002t0002g0227 a0002c0002t0002g0229 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0002g0275 a0002c0002t0002g0277 a0002c0002t0002g0278 a0002c0002t0002g0279 a0002c0002t0002g0280 a0002c0002t0002g0281 a0002c0002t0002g0288 a0002c0002t0002g0289 a0002c0002t0002g0291 a0002c0002t0002g0299 a0002c0002t0002g0303 a0002c0002t0002g0304 a0002c0003t0002g0188 a0002c0003t0002g0206 a0002c0003t0002g0207 a0002c0003t0002g0208 a0002c0003t0002g0209 a0002c0003t0002g0210 a0002c0003t0002g0211 a0002c0003t0002g0294 a0002c0003t0011g0312 a0002c0011t0002g0225 a0002c0011t0002g0274 a0002c0015t0002g0220 a0002c0015t0002g0276 a0002c0023t0002g0228 a0008c0021t0001g0197	49	67	0.7313	-20	c.6+1 others(35): Show c.6+10461_6+10480delGCCTGCCTGCCTGCCTGCCT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	2/31			chr15	TogoVar
SCARA3_chr8_27628902_27678018	27659860	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAGAG	A A	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	406	0.0025	-20	c.136 others(37): Show c.1369+323_1369+342delAAAAAAAAAAAAAAAAGAGA	SCARA3	ENSG00000168077.14	transcript	ENST00000301904.4	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
SCARA5_chr8_27864883_27997673	27865577	TTATATAT others(13): Show TTATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG01192.hp2 others(37): Show HG00280.hp1 HG00323.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp2 HG01261.hp1 HG01361.hp2 HG01496.hp2 HG01884.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp2 HG01981.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02145.hp2 HG02257.hp2 HG02280.hp1 HG02622.hp1 HG02698.hp2 HG02809.hp1 HG02886.hp1 HG03017.hp1 HG03041.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03654.hp1 HG03831.hp2 NA18906.hp2 NA18939.hp1 NA18943.hp1 NA18943.hp2 NA18977.hp1 NA18978.hp1 NA19000.hp2 NA19012.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0008 a0001c0009 a0002c0006 a0002c0015 a0002c0017 a0003c0011 a0006c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0035 a0001c0002t0001 a0001c0002t0002 a0001c0003t0010 a0001c0003t0042 a0001c0003t0044 a0001c0003t0060 a0001c0005t0008 a0001c0007t0001 a0001c0007t0010 a0001c0008t0057 a0001c0009t0016 a0002c0006t0001 a0002c0006t0002 a0002c0015t0001 a0002c0015t0014 a0002c0017t0020 a0003c0011t0028 a0003c0011t0029 a0006c0026t0008	a0001c0001t0001g0273 a0001c0001t0002g0059 a0001c0001t0002g0060 others(37): Show a0001c0001t0001g0273 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0083 a0001c0001t0002g0105 a0001c0001t0002g0108 a0001c0001t0008g0140 a0001c0001t0010g0110 a0001c0001t0014g0213 a0001c0001t0035g0002 a0001c0002t0001g0150 a0001c0002t0001g0187 a0001c0002t0001g0209 a0001c0002t0001g0229 a0001c0002t0001g0237 a0001c0002t0001g0245 a0001c0002t0001g0254 a0001c0002t0001g0257 a0001c0002t0001g0283 a0001c0002t0002g0058 a0001c0002t0002g0062 a0001c0003t0010g0113 a0001c0003t0042g0010 a0001c0003t0044g0009 a0001c0003t0060g0258 a0001c0005t0008g0264 a0001c0007t0001g0118 a0001c0007t0010g0017 a0001c0008t0057g0116 a0001c0009t0016g0097 a0002c0006t0001g0236 a0002c0006t0001g0298 a0002c0006t0002g0079 a0002c0015t0001g0279 a0002c0015t0014g0226 a0002c0017t0020g0035 a0003c0011t0028g0307 a0003c0011t0028g0310 a0003c0011t0029g0008 a0006c0026t0008g0266	40	49	0.8163	-20	c.63 others(31): Show c.6337_*6356delTATATATATATATATATATA	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding		4305		chr8	TogoVar
SCARA5_chr8_27864883_27997673	27865781	ATATATAT others(13): Show ATATATATTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01168.hp1 HG01169.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0007 a0004c0012t0030 a0004c0012t0007 a0004c0012t0030	a0004c0012t0007g0041 a0004c0012t0030g0039 a0004c0012t0007g0041 a0004c0012t0030g0039	2	307	0.0065	-20	c.61 others(31): Show c.6133_*6152delAAAAAAAAAAAAAATATATA	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding		4101		chr8	TogoVar
SCARA5_chr8_27864883_27997673	27865783	ATATATTT others(13): Show ATATATTTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00733.hp1 HG00741.hp2 others(14): Show HG00642.hp2 HG00733.hp1 HG00741.hp2 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01255.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp2 HG02698.hp1 HG02735.hp1 HG03017.hp2 HG03490.hp1 HG03704.hp1 HG04184.hp2 NA18977.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0007 others(2): Show a0001c0001 a0001c0002 a0001c0007 a0001c0018 a0004c0012	a0001c0001t0005 a0001c0001t0007 a0001c0001t0030 others(5): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0030 a0001c0002t0005 a0001c0002t0007 a0001c0007t0050 a0001c0018t0007 a0004c0012t0005	a0001c0001t0005g0174 a0001c0001t0005g0202 a0001c0001t0005g0216 others(14): Show a0001c0001t0005g0174 a0001c0001t0005g0202 a0001c0001t0005g0216 a0001c0001t0005g0249 a0001c0001t0007g0056 a0001c0001t0007g0095 a0001c0001t0030g0057 a0001c0002t0005g0204 a0001c0002t0005g0210 a0001c0002t0005g0211 a0001c0002t0005g0270 a0001c0002t0005g0299 a0001c0002t0007g0047 a0001c0007t0050g0003 a0001c0018t0007g0087 a0004c0012t0005g0136 a0004c0012t0005g0138	17	274	0.0620	-20	c.61 others(31): Show c.6131_*6150delAAAAAAAAAAAAAAAATATA	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding		4099		chr8	TogoVar
SCARA5_chr8_27864883_27997673	27865785	ATATTTTT others(13): Show ATATTTTTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp2 HG01257.hp1 HG01258.hp2 others(4): Show HG01071.hp2 HG01257.hp1 HG01258.hp2 HG01361.hp1 HG01496.hp1 HG02602.hp1 HG02735.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0012 a0001c0002 a0004c0012	a0001c0002t0005 a0001c0002t0022 a0004c0012t0061 a0001c0002t0005 a0001c0002t0022 a0004c0012t0061	a0001c0002t0005g0168 a0001c0002t0005g0203 a0001c0002t0005g0215 others(4): Show a0001c0002t0005g0168 a0001c0002t0005g0203 a0001c0002t0005g0215 a0001c0002t0022g0005 a0001c0002t0022g0006 a0001c0002t0022g0007 a0004c0012t0061g0161	7	242	0.0289	-20	c.61 others(31): Show c.6129_*6148delAAAAAAAAAAAAAAAAAATA	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding		4097		chr8	TogoVar
SCARA5_chr8_27864883_27997673	27865787	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0131 a0001c0001t0024g0131	1	189	0.0053	-20	c.61 others(31): Show c.6127_*6146delAAAAAAAAAAAAAAAAAAAA	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding		4095		chr8	TogoVar
SCARF1_chr17_1628858_1650732	1637327	CCTATCTA others(13): Show CCTATCTATCTATCTATCTAT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0065 a0005c0005t0002g0065	1	253	0.0040	-20	c.136 others(37): Show c.1365-285_1365-266delATAGATAGATAGATAGATAG	SCARF1	ENSG00000074660.17	transcript	ENST00000263071.9	protein_coding	8/10			chr17	TogoVar
SCCPDH_chr1_246719409_246773137	246722502	AATATATA others(13): Show AATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	36	0.0278	-20	c.-19 others(31): Show c.-1920_-1901delATATATATATATATATATAT	SCCPDH	ENSG00000143653.10	transcript	ENST00000366510.4	protein_coding		1906		chr1	TogoVar
SCD5_chr4_82624539_82803796	82700787	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	2	0.5000	-20	c.363 others(37): Show c.363+4476_363+4495delTTTTTTTTTTTTTTTTTTTT	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	2/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82712243	CATATATA others(13): Show CATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0122	1	88	0.0114	-20	c.233 others(37): Show c.233-6850_233-6831delATATATATATATATATATAT	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4			chr4	TogoVar
SCEL_chr13_77530706_77650263	77637287	CACATATA others(13): Show CACATATATATAAATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01515.hp1 HG01516.hp2 others(12): Show HG00733.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG02027.hp2 HG02723.hp2 HG02735.hp1 NA18948.hp1 NA18970.hp2 NA19068.hp1 NA19070.hp2 NA19076.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0004 a0001c0016 a0003c0003 others(1): Show a0001c0004 a0001c0016 a0003c0003 a0004c0008	a0001c0004t0002 a0001c0016t0001 a0003c0003t0001 others(1): Show a0001c0004t0002 a0001c0016t0001 a0003c0003t0001 a0004c0008t0001	a0001c0004t0002g0021 a0001c0004t0002g0109 a0001c0004t0002g0111 others(12): Show a0001c0004t0002g0021 a0001c0004t0002g0109 a0001c0004t0002g0111 a0001c0004t0002g0118 a0001c0004t0002g0121 a0001c0004t0002g0126 a0001c0016t0001g0218 a0003c0003t0001g0071 a0003c0003t0001g0074 a0003c0003t0001g0078 a0003c0003t0001g0079 a0003c0003t0001g0185 a0003c0003t0001g0286 a0004c0008t0001g0053 a0004c0008t0001g0102	15	353	0.0425	-20	c.183 others(37): Show c.1838+123_1838+142delTAAATATATATACATATATA	SCEL	ENSG00000136155.17	transcript	ENST00000349847.4	protein_coding	30/32		INFO_REALIGN_3_PRIME	chr13	TogoVar

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