Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RUNDC3B_chr7_87623398_87837296	87626373	ATATGTAT others(56): Show ATATGTATGTGTCATATATATGTGTCATATGTATGTGTCATATATATGTG TCATATGTATGTGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp1 NA19087.hp1 NA18998.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0027 a0001c0001t0014 a0001c0001t0027	a0001c0001t0014g0157 a0001c0001t0027g0037 a0001c0001t0014g0157 a0001c0001t0027g0037	2	202	0.0099	-63	c.-24 others(74): Show c.-2450_-2388delTATGTATGTGTCATATATATGTGTCATATGTATG TGTCATATATATGTGTCATATGTATGTGT	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2024		chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87626374	TATGTATG others(56): Show TATGTATGTGTCATATATATGTGTCATATGTATGTGTCATATATATGTGT CATATGTATGTGTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG03209.hp2 HG02717.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0066 a0001c0001t0059 a0001c0001t0066	a0001c0001t0059g0014 a0001c0001t0066g0013 a0001c0001t0059g0014 a0001c0001t0066g0013	2	202	0.0099	-63	c.-24 others(74): Show c.-2449_-2387delATGTATGTGTCATATATATGTGTCATATGTATGT GTCATATATATGTGTCATATGTATGTGTC	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2023		chr7	TogoVar
S1PR4_chr19_3173769_3185332	3176930	CCTCAGAC others(56): Show CCTCAGACCCCAAGGCAGGGCCTCGCCTCCCCCCTCAGACTCAGGACAGG GCCATGCCTCCCCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02970.hp1 HG02615.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0001 a0001c0014t0001 a0001c0001t0001 a0001c0014t0001	a0001c0001t0001g0000 a0001c0014t0001g0000 a0001c0001t0001g0000 a0001c0014t0001g0000	2	418	0.0048	-63	c.-18 others(74): Show c.-1862_-1800delCTCAGACCCCAAGGCAGGGCCTCGCCTCCCCCCT CAGACTCAGGACAGGGCCATGCCTCCCCA	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		1838		chr19	TogoVar
SBNO1_chr12_123284109_123369847	123349530	TCTATACG others(56): Show TCTATACGTTTATAATAACATCAAAGCAGAAAATAATGTTTTGGTTTTCA TTATTATTTTCTGC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp1 HG01884.hp1 others(26): Show HG01109.hp1 HG01243.hp1 HG01884.hp1 HG02055.hp1 HG02109.hp1 HG02145.hp2 HG02257.hp2 HG02451.hp1 HG02486.hp1 HG02647.hp1 HG02717.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03516.hp2 NA20129.hp1 NA20300.hp1 NA21309.hp1	a0001 a0001	a0001c0005 a0001c0008 a0001c0012 a0001c0005 a0001c0008 a0001c0012	a0001c0005t0006 a0001c0005t0012 a0001c0005t0015 others(10): Show a0001c0005t0006 a0001c0005t0012 a0001c0005t0015 a0001c0005t0016 a0001c0005t0025 a0001c0005t0026 a0001c0005t0046 a0001c0005t0047 a0001c0005t0048 a0001c0005t0049 a0001c0008t0006 a0001c0008t0024 a0001c0012t0050	a0001c0005t0006g0104 a0001c0005t0006g0105 a0001c0005t0006g0106 others(26): Show a0001c0005t0006g0104 a0001c0005t0006g0105 a0001c0005t0006g0106 a0001c0005t0006g0109 a0001c0005t0006g0115 a0001c0005t0006g0116 a0001c0005t0012g0110 a0001c0005t0012g0111 a0001c0005t0012g0114 a0001c0005t0012g0117 a0001c0005t0015g0205 a0001c0005t0015g0206 a0001c0005t0015g0207 a0001c0005t0016g0096 a0001c0005t0016g0097 a0001c0005t0016g0098 a0001c0005t0025g0094 a0001c0005t0025g0201 a0001c0005t0026g0101 a0001c0005t0026g0108 a0001c0005t0046g0102 a0001c0005t0047g0103 a0001c0005t0048g0118 a0001c0005t0049g0107 a0001c0008t0006g0095 a0001c0008t0006g0113 a0001c0008t0024g0100 a0001c0008t0024g0112 a0001c0012t0050g0123	29	260	0.1115	-63	c.132 others(78): Show c.132+717_132+779delGCAGAAAATAATAATGAAAACCAAAACATT ATTTTCTGCTTTGATGTTATTATAAACGTATAG	SBNO1	ENSG00000139697.14	transcript	ENST00000602398.3	protein_coding	2/31			chr12	TogoVar
SCCPDH_chr1_246719409_246773137	246772430	GGCAGAGA others(56): Show GGCAGAGAGCAGGTAGTGTGACGTGATGGAGGAGATGGTACCGCACTCAC TGAAAATGGGAACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 NA19240.hp2 HG02615.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0085 a0001c0001t0001g0086	2	410	0.0049	-63	c.51 others(74): Show c.5131_*5193delGCAGAGAGCAGGTAGTGTGACGTGATGGAGGAGA TGGTACCGCACTCACTGAAAATGGGAACA	SCCPDH	ENSG00000143653.10	transcript	ENST00000366510.4	protein_coding		4294		chr1	TogoVar
SCN11A_chr3_38840764_39056944	38877393	ATATATAT others(56): Show ATATATATGGTGTATATACTATATATATGGTATATATATGGTGTATATAC TATATATATGGTAT	A A	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0167 a0001c0002t0001g0167	1	314	0.0032	-63	c.339 others(82): Show c.3393+2494_3393+2556delATACCATATATATAGTATATACACCA TATATATACCATATATATAGTATATACACCATATATA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	23/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38877424	ATATATAT others(56): Show ATATATATGGTGTATATACTATATATATGGTATATATATGGTGTATATAC TATATATATGGTAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG03834.hp1 HG00140.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0215 a0001c0002t0001g0157 a0001c0001t0001g0215 a0001c0002t0001g0157	2	314	0.0064	-63	c.339 others(82): Show c.3393+2463_3393+2525delATACCATATATATAGTATATACACCA TATATATACCATATATATAGTATATACACCATATATA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	23/29			chr3	TogoVar
SCN5A_chr3_38543062_38654687	38561816	TCTGTCTG others(56): Show TCTGTCTGATGCTGGGAATGCAGCTTGCTCTATGCCTCTTCCCTCACCCT CCCGACCACAGCCC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp2 HG00597.hp1 others(85): Show HG00140.hp1 HG00438.hp2 HG00597.hp1 HG00639.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01256.hp2 HG01891.hp1 HG01978.hp1 HG01978.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18942.hp2 NA18945.hp1 NA18950.hp2 NA18953.hp1 NA18955.hp1 NA18956.hp1 NA18963.hp1 NA18967.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18975.hp1 NA18975.hp2 NA18982.hp2 NA18988.hp1 NA18990.hp1 NA18992.hp2 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19065.hp2 NA19070.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp2 NA20805.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0021 a0022	a0001c0001 a0001c0003 a0001c0008 others(26): Show a0001c0001 a0001c0003 a0001c0008 a0001c0018 a0001c0026 a0001c0038 a0001c0045 a0001c0049 a0001c0050 a0001c0051 a0001c0055 a0002c0006 a0002c0007 a0002c0009 a0002c0016 a0002c0062 a0002c0065 a0002c0069 a0003c0028 a0004c0046 a0005c0029 a0005c0030 a0006c0068 a0007c0017 a0007c0073 a0008c0021 a0009c0041 a0021c0058 a0022c0066	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(39): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0019 a0001c0001t0027 a0001c0003t0003 a0001c0003t0005 a0001c0003t0009 a0001c0003t0026 a0001c0008t0002 a0001c0008t0007 a0001c0018t0002 a0001c0026t0002 a0001c0038t0016 a0001c0045t0003 a0001c0049t0003 a0001c0050t0003 a0001c0051t0002 a0001c0055t0020 a0002c0006t0003 a0002c0006t0005 a0002c0007t0002 a0002c0007t0018 a0002c0007t0025 a0002c0009t0002 a0002c0009t0007 a0002c0016t0002 a0002c0062t0008 a0002c0065t0002 a0002c0069t0002 a0003c0028t0003 a0004c0046t0002 a0005c0029t0021 a0005c0029t0023 a0005c0030t0008 a0006c0068t0017 a0007c0017t0002 a0007c0073t0002 a0008c0021t0002 a0009c0041t0003 a0021c0058t0002 a0022c0066t0002	a0001c0001t0002g0020 a0001c0001t0002g0024 a0001c0001t0002g0033 others(84): Show a0001c0001t0002g0020 a0001c0001t0002g0024 a0001c0001t0002g0033 a0001c0001t0003g0052 a0001c0001t0003g0154 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0166 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0185 a0001c0001t0003g0197 a0001c0001t0003g0226 a0001c0001t0003g0245 a0001c0001t0003g0254 a0001c0001t0003g0261 a0001c0001t0003g0273 a0001c0001t0003g0281 a0001c0001t0003g0308 a0001c0001t0005g0003 a0001c0001t0005g0065 a0001c0001t0019g0173 a0001c0001t0027g0193 a0001c0003t0003g0069 a0001c0003t0003g0070 a0001c0003t0003g0076 a0001c0003t0003g0078 a0001c0003t0003g0083 a0001c0003t0003g0086 a0001c0003t0003g0099 a0001c0003t0003g0100 a0001c0003t0003g0101 a0001c0003t0003g0102 a0001c0003t0003g0103 a0001c0003t0003g0201 a0001c0003t0003g0294 a0001c0003t0003g0298 a0001c0003t0005g0295 a0001c0003t0009g0006 a0001c0003t0026g0087 a0001c0008t0002g0009 a0001c0008t0002g0022 a0001c0008t0002g0134 a0001c0008t0002g0278 a0001c0008t0002g0279 a0001c0008t0007g0121 a0001c0018t0002g0131 a0001c0026t0002g0126 a0001c0026t0002g0127 a0001c0038t0016g0118 a0001c0045t0003g0165 a0001c0049t0003g0246 a0001c0050t0003g0287 a0001c0051t0002g0008 a0001c0055t0020g0034 a0002c0006t0003g0136 a0002c0006t0003g0262 a0002c0006t0003g0263 a0002c0006t0005g0228 a0002c0007t0002g0011 a0002c0007t0002g0129 a0002c0007t0018g0152 a0002c0007t0025g0220 a0002c0009t0002g0016 a0002c0009t0002g0017 a0002c0009t0007g0014 a0002c0009t0007g0036 a0002c0009t0007g0059 a0002c0016t0002g0116 a0002c0062t0008g0013 a0002c0065t0002g0130 a0002c0069t0002g0122 a0003c0028t0003g0218 a0004c0046t0002g0029 a0005c0029t0021g0048 a0005c0029t0023g0049 a0005c0030t0008g0050 a0005c0030t0008g0219 a0006c0068t0017g0039 a0007c0017t0002g0043 a0007c0017t0002g0217 a0007c0073t0002g0031 a0008c0021t0002g0157 a0008c0021t0002g0195 a0009c0041t0003g0055 a0021c0058t0002g0315 a0022c0066t0002g0041	88	340	0.2588	-63	c.396 others(80): Show c.3963+536_3963+598delGGGCTGTGGTCGGGAGGGTGAGGGAAGA GGCATAGAGCAAGCTGCATTCCCAGCATCAGACAG	SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	22/27			chr3	TogoVar
SCYL3_chr1_169844631_169898896	169850982	TTTTTTTT others(56): Show TTTTTTTTTTTTTTTTTTTTTTTTTATTTGGGCAGCCTCCCAAGCCAGGG TAAGCTCAGGGCCC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0104 a0001c0003t0104	a0001c0003t0104g0206 a0001c0003t0104g0206	1	418	0.0024	-63	c.26 others(74): Show c.2668_*2730delGGGCCCTGAGCTTACCCTGGCTTGGGAGGCTGCC CAAATAAAAAAAAAAAAAAAAAAAAAAAA	SCYL3	ENSG00000000457.14	transcript	ENST00000367771.11	protein_coding	13/13	2668		chr1	TogoVar
SDF4_chr1_1211931_1237001	1226313	TGCTCTTT others(56): Show TGCTCTTTCCAGAAACCCTCAACCCTGTACGGTCAGGAGGAAACATGGCA CCTCCCCTCTGGGG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00408.hp1 others(52): Show HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00558.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG01074.hp1 HG01106.hp2 HG01123.hp2 HG01515.hp2 HG01516.hp2 HG01928.hp1 HG01934.hp2 HG01978.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02109.hp1 HG02132.hp2 HG02135.hp2 HG02258.hp1 HG02523.hp2 HG02717.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03831.hp2 NA18747.hp1 NA18940.hp2 NA18951.hp2 NA18955.hp1 NA18966.hp1 NA18977.hp1 NA18979.hp1 NA18983.hp1 NA18984.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp2 NA19009.hp2 NA19012.hp1 NA19056.hp1 NA19062.hp1 NA19070.hp1 NA19081.hp2 NA19090.hp1 NA20752.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0004 a0002c0005 others(2): Show a0001c0001 a0002c0004 a0002c0005 a0002c0011 a0003c0009	a0001c0001t0001 a0001c0001t0002 a0002c0004t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0002c0004t0005 a0002c0004t0022 a0002c0005t0005 a0002c0011t0005 a0003c0009t0005	a0001c0001t0001g0016 a0001c0001t0001g0070 a0001c0001t0001g0074 others(38): Show a0001c0001t0001g0016 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0092 a0001c0001t0002g0010 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0075 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0093 a0002c0004t0005g0028 a0002c0004t0005g0063 a0002c0004t0005g0064 a0002c0004t0005g0065 a0002c0004t0005g0066 a0002c0004t0005g0067 a0002c0004t0022g0062 a0002c0005t0005g0090 a0002c0005t0005g0091 a0002c0011t0005g0089 a0003c0009t0005g0068	55	400	0.1375	-63	c.305 others(80): Show c.305+2092_305+2154delCCCCAGAGGGGAGGTGCCATGTTTCCTC CTGACCGTACAGGGTTGAGGGTTTCTGGAAAGAGC	SDF4	ENSG00000078808.20	transcript	ENST00000360001.12	protein_coding	2/6			chr1	TogoVar
SDHA_chr5_213320_262082	260139	CCCGTCAG others(56): Show CCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCG TGTGAGCTCCGCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp2 NA18960.hp2 NA18982.hp2 others(2): Show NA18942.hp2 NA18960.hp2 NA18982.hp2 NA18989.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0036 a0001c0001t0002g0062 others(1): Show a0001c0001t0002g0019 a0001c0001t0002g0036 a0001c0001t0002g0062 a0001c0001t0002g0086	5	266	0.0188	-63	c.37 others(74): Show c.3720_*3782delCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCC GTCAGAGCATTACCGTGTGAGCTCCGCCT	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		3058		chr5	TogoVar
SDK2_chr17_73329384_73649445	73612335	ACCCAGCT others(56): Show ACCCAGCTGCACCTGGGCTGCAGGCTGGCCCCGCACAGTCCCCACCCTCA CCGGGTCCCTGTGG	A A	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0109 a0001c0109	a0001c0109t0049 a0001c0109t0049	a0001c0109t0049g0011 a0001c0109t0049g0011	1	204	0.0049	-63	c.64+ others(80): Show c.64+31627_64+31689delCCACAGGGACCCGGTGAGGGTGGGGACT GTGCGGGGCCAGCCTGCAGCCCAGGTGCAGCTGGG	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	1/44			chr17	TogoVar
SEPTIN11_chr4_76944752_77043615	76990032	TCCACAGC others(56): Show TCCACAGCGTGGAAGGGGACCTGAGCGGGTTGCCGCTGCTGGCTTGGGTG GCCAGCTTTTATTC	T T	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0223 a0001c0001t0005g0223	1	370	0.0027	-63	c.28- others(78): Show c.28-6390_28-6328delACAGCGTGGAAGGGGACCTGAGCGGGTTGC CGCTGCTGGCTTGGGTGGCCAGCTTTTATTCCC	SEPTIN11	ENSG00000138758.12	transcript	ENST00000264893.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
SFSWAP_chr12_131706090_131804738	131766954	TGTGTCCG others(56): Show TGTGTCCGAGACCAGAGGCCTTCAGTAGACACTGGCTCCTGTGCCAAGGG GATTGCTCCCATGC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp2 HG00735.hp1 others(53): Show HG00558.hp2 HG00597.hp2 HG00735.hp1 HG00738.hp1 HG01261.hp1 HG01934.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02071.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02148.hp2 HG02622.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02886.hp2 HG02897.hp2 HG03130.hp1 HG03139.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG04228.hp2 NA18939.hp2 NA18942.hp2 NA18948.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp2 NA18966.hp1 NA18967.hp1 NA18969.hp2 NA18970.hp1 NA18978.hp1 NA18986.hp2 NA18990.hp2 NA18993.hp1 NA18995.hp2 NA19000.hp1 NA19001.hp1 NA19003.hp2 NA19010.hp1 NA19011.hp2 NA19043.hp2 NA19057.hp1 NA19063.hp1 NA19065.hp2 NA19066.hp1 NA19074.hp2 NA19085.hp2 NA19090.hp1 NA20752.hp2 NA20905.hp1	a0000 a0001 a0002 others(1): Show a0000 a0001 a0002 a0012	a0000c0005 a0001c0001 a0001c0010 others(3): Show a0000c0005 a0001c0001 a0001c0010 a0001c0019 a0002c0003 a0012c0030	a0000c0005t0001 a0001c0001t0001 a0001c0001t0004 others(5): Show a0000c0005t0001 a0001c0001t0001 a0001c0001t0004 a0001c0010t0001 a0001c0010t0004 a0001c0019t0001 a0002c0003t0004 a0012c0030t0001	a0000c0005t0001g0251 a0001c0001t0001g0003 a0001c0001t0001g0004 others(48): Show a0000c0005t0001g0251 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0090 a0001c0001t0001g0174 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0239 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0304 a0001c0001t0004g0305 a0001c0010t0001g0240 a0001c0010t0004g0023 a0001c0019t0001g0195 a0002c0003t0004g0022 a0002c0003t0004g0024 a0012c0030t0001g0196	56	318	0.1761	-63	c.214 others(80): Show c.2142+860_2142+922delTAGACACTGGCTCCTGTGCCAAGGGGAT TGCTCCCATGCGTGTCCGAGACCAGAGGCCTTCAG	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SGK3_chr8_66707781_66867022	66839501	ATATATAT others(56): Show ATATATATATATATATATATATATATATATATATATATATATATATATAT ATATATATTTTCAT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03130.hp2 HG03453.hp2 others(1): Show HG03098.hp1 HG03130.hp2 HG03453.hp2 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0012 a0001c0002t0006g0035 a0001c0002t0006g0048 others(1): Show a0001c0002t0006g0012 a0001c0002t0006g0035 a0001c0002t0006g0048 a0001c0002t0006g0055	4	142	0.0282	-63	c.742 others(78): Show c.742-501_742-439delTATATATATATATATATATATATATATATA TATATATATATATATATATATATATATTTTCAT	SGK3	ENSG00000104205.16	transcript	ENST00000521198.7	protein_coding	10/16			chr8	TogoVar
SH3RF1_chr4_169089259_169275956	169145837	GTATTCTA others(56): Show GTATTCTATATATTATTCTATATAAAATATGTATTCTATATATTATTCTA TATAAAATATTACA	G G	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03688.hp2 HG03831.hp1 others(3): Show HG03490.hp1 HG03688.hp2 HG03831.hp1 HG04204.hp1 HG04228.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0069 others(3): Show a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0196 a0001c0001t0004g0077	6	216	0.0278	-63	c.766 others(80): Show c.766-9280_766-9218delTGTAATATTTTATATAGAATAATATATA GAATACATATTTTATATAGAATAATATATAGAATA	SH3RF1	ENSG00000154447.15	transcript	ENST00000284637.14	protein_coding	4/11			chr4	TogoVar
SHC2_chr19_411589_466033	458047	GGAAGCGG others(56): Show GGAAGCGGGTCTTGGGGAGGCGGAAGCGGGTCTTGGGGAGGCGGAAGTGG GTCCCGGGGAGGCA	G G	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0171 a0001c0001t0003g0171	1	212	0.0047	-63	c.468 others(80): Show c.468+2419_468+2481delTGCCTCCCCGGGACCCACTTCCGCCTCC CCAAGACCCGCTTCCGCCTCCCCAAGACCCGCTTC	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	1/12			chr19	TogoVar
SHC2_chr19_411589_466033	458278	GCGGAAGT others(56): Show GCGGAAGTGGGTCCCGGGGAGGCGGAAGCGGGTCTTGGGGAGGCGGAAGC GGGTTCCGGGGAGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00639.hp2 others(14): Show HG00099.hp1 HG00099.hp2 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG01099.hp2 HG01109.hp1 HG01943.hp2 HG02735.hp1 HG03098.hp2 HG03209.hp2 HG03225.hp1 HG03927.hp2 HG06807.hp1 NA18906.hp1 NA20752.hp2 NA21309.hp2	a0001 a0001	a0001c0005 a0001c0006 a0001c0014 a0001c0005 a0001c0006 a0001c0014	a0001c0005t0001 a0001c0005t0005 a0001c0005t0006 others(4): Show a0001c0005t0001 a0001c0005t0005 a0001c0005t0006 a0001c0006t0001 a0001c0006t0002 a0001c0006t0006 a0001c0014t0001	a0001c0005t0001g0011 a0001c0005t0001g0012 a0001c0005t0001g0013 others(14): Show a0001c0005t0001g0011 a0001c0005t0001g0012 a0001c0005t0001g0013 a0001c0005t0001g0015 a0001c0005t0001g0016 a0001c0005t0001g0017 a0001c0005t0001g0022 a0001c0005t0001g0025 a0001c0005t0005g0026 a0001c0005t0006g0010 a0001c0006t0001g0020 a0001c0006t0001g0023 a0001c0006t0001g0024 a0001c0006t0002g0018 a0001c0006t0002g0019 a0001c0006t0006g0014 a0001c0014t0001g0021	17	212	0.0802	-63	c.468 others(80): Show c.468+2188_468+2250delTCTCCCCGGAACCCGCTTCCGCCTCCCC AAGACCCGCTTCCGCCTCCCCGGGACCCACTTCCG	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	1/12			chr19	TogoVar
SHC2_chr19_411589_466033	458285	TGGGTCCC others(56): Show TGGGTCCCGGGGAGGCGGAAGCGGGTCTTGGGGAGGCGGAAGCGGGTTCC GGGGAGACAGAAGC	T T	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0060 a0001c0003t0002g0060	1	212	0.0047	-63	c.468 others(80): Show c.468+2181_468+2243delGCTTCTGTCTCCCCGGAACCCGCTTCCG CCTCCCCAAGACCCGCTTCCGCCTCCCCGGGACCC	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	1/12			chr19	TogoVar
SIGIRR_chr11_400716_419999	401469	CACCCGCC others(56): Show CACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGTTCACAC CCGCCCCGCTCACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00438.hp1 others(46): Show HG00099.hp1 HG00408.hp2 HG00438.hp1 HG00741.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02027.hp1 HG02071.hp2 HG02109.hp1 HG02132.hp1 HG02148.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02630.hp2 HG02647.hp1 HG02809.hp1 HG02886.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03516.hp2 HG03704.hp2 HG04204.hp1 NA18747.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18951.hp2 NA18966.hp2 NA18969.hp2 NA18974.hp1 NA18983.hp1 NA18995.hp2 NA19005.hp1 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0007 a0001c0001 a0001c0003 a0003c0007	a0001c0001t0001 a0001c0003t0001 a0003c0007t0001 a0001c0001t0001 a0001c0003t0001 a0003c0007t0001	a0001c0001t0001g0099 a0001c0001t0001g0119 a0001c0001t0001g0136 others(46): Show a0001c0001t0001g0099 a0001c0001t0001g0119 a0001c0001t0001g0136 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0234 a0001c0003t0001g0231 a0001c0003t0001g0232 a0003c0007t0001g0199	49	242	0.2025	-63	c.43 others(74): Show c.4364_*4426delTGTGAGCGGGGCGGGTGTGAACGGGGCCGGGGGT GAGCGGGGCCGGGGGTGAGCGGGGCGGGT	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4246		chr11	TogoVar
SIGIRR_chr11_400716_419999	402234	GACCCCGC others(56): Show GACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGA CCCCGGCCCCGCTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02647.hp1 HG02056.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0150 a0001c0001t0001g0154	2	242	0.0083	-63	c.35 others(74): Show c.3599_*3661delGAGCGGGGCCGGGGTCAGTGGAGCCGGGGGTGAG CGGGGCCGGGGGTCGGGGGTGAGCGGGGT	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3481		chr11	TogoVar
SIN3B_chr19_16824398_16885349	16875158	GGGTCTGG others(56): Show GGGTCTGGTCTGGTCTGGTCTGTTTGGTCTGGTCTGGTCTGGTCTGGTCT GTCTGGTCTGGTTT	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02027.hp1 HG02155.hp2 HG00558.hp1 HG02027.hp1 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0306 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0306	3	372	0.0081	-63	c.259 others(80): Show c.2593-854_2593-792delCTGGTCTGTCTGGTCTGGTTTGGTCTGG TCTGGTCTGGTCTGTTTGGTCTGGTCTGGTCTGGT	SIN3B	ENSG00000127511.10	transcript	ENST00000248054.10	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
SKI_chr1_2223319_2315213	2280907	AGGACGCC others(56): Show AGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGC CCGAGAAGACAGGC	A A	intron_variant intron_variant	MODIFIER	HG03942.hp1 NA18998.hp2 HG03942.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0004 a0001c0001t0001 a0001c0009t0004	a0001c0001t0001g0146 a0001c0009t0004g0064 a0001c0001t0001g0146 a0001c0009t0004g0064	2	330	0.0061	-63	c.970 others(82): Show c.970-22068_970-22006delACGCCCGAGAAGACAGGCGGCGGCGG CGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2280950	AGGACGCC others(56): Show AGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGC CCGAGAAGACAGGC	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03041.hp1 HG03471.hp1 HG02622.hp2 HG03041.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0062 a0001c0003t0001 a0001c0001t0062 a0001c0003t0001	a0001c0001t0062g0257 a0001c0003t0001g0170 a0001c0003t0001g0172 a0001c0001t0062g0257 a0001c0003t0001g0170 a0001c0003t0001g0172	3	330	0.0091	-63	c.970 others(82): Show c.970-22025_970-21963delACGCCCGAGAAGACAGGCGGCGGCGG CGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281036	AGGACGCC others(56): Show AGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGC CCGAGAAGACAGGC	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03130.hp2 NA19081.hp2 HG02630.hp2 HG03130.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0012 a0001c0001t0001 a0001c0001t0011 a0001c0001t0012	a0001c0001t0001g0271 a0001c0001t0011g0265 a0001c0001t0012g0194 a0001c0001t0001g0271 a0001c0001t0011g0265 a0001c0001t0012g0194	3	330	0.0091	-63	c.970 others(82): Show c.970-21939_970-21877delACGCCCGAGAAGACAGGCGGCGGCGG CGATCTTCAGAGAGCGGACGCCCGAGAAGACAGGCGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281165	AGGACGCC others(56): Show AGGACGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGACGC CCGAGAAGACAGGC	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 NA18961.hp1 NA21309.hp1 HG01074.hp1 NA18961.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0001 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0283 a0001c0001t0004g0260 a0001c0001t0006g0300 a0001c0001t0001g0283 a0001c0001t0004g0260 a0001c0001t0006g0300	3	330	0.0091	-63	c.970 others(82): Show c.970-21810_970-21748delACGCCCGAGAGGACAGGCGGTGGCGG AGATCTTCATAGAGAGGACGCCCGAGAAGACAGGCGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281382	AGGACGCC others(56): Show AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGC CCGAGAAGACAGGC	A A	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0194 a0001c0001t0012g0194	1	330	0.0030	-63	c.970 others(82): Show c.970-21593_970-21531delACGCCCGAGAAGACAGGCGGTGGCGG AGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281425	AGGATGCC others(56): Show AGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGC CCGAGAGGACAGGC	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0074	a0001c0001t0074g0192 a0001c0001t0074g0192	1	330	0.0030	-63	c.970 others(82): Show c.970-21550_970-21488delATGCCCGAGAAGACAGGCGGTGGCGG AGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281468	AGGACGCC others(56): Show AGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGC CCGAGAGGACAGGC	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01978.hp1 HG02258.hp1 others(2): Show HG01261.hp2 HG01978.hp1 HG02258.hp1 HG03540.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 others(1): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0050	a0001c0001t0003g0209 a0001c0001t0007g0061 a0001c0001t0007g0305 others(2): Show a0001c0001t0003g0209 a0001c0001t0007g0061 a0001c0001t0007g0305 a0001c0001t0009g0308 a0001c0001t0050g0309	5	330	0.0152	-63	c.970 others(82): Show c.970-21507_970-21445delACGCCCGAGAGGACAGGCGGTGGTGG AGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281511	AGGACGCC others(56): Show AGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCATAGAGAGGACGC CCGAGAGGACAGGC	A A	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0158 a0001c0001t0003g0158	1	330	0.0030	-63	c.970 others(82): Show c.970-21464_970-21402delACGCCCGAGAGGACAGGCGGTGGTGG AGATCTTCATAGAGAGGACGCCCGAGAGGACAGGCGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281554	AGGACGCC others(56): Show AGGACGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGC CCGAGAAGACAGGC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02647.hp2 HG03540.hp1 others(1): Show HG01243.hp1 HG02647.hp2 HG03540.hp1 HG03942.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0065 a0002c0002t0002 a0002c0002t0022 others(1): Show a0001c0001t0065 a0002c0002t0002 a0002c0002t0022 a0002c0002t0043	a0001c0001t0065g0312 a0002c0002t0002g0184 a0002c0002t0022g0181 others(1): Show a0001c0001t0065g0312 a0002c0002t0002g0184 a0002c0002t0022g0181 a0002c0002t0043g0182	4	330	0.0121	-63	c.970 others(82): Show c.970-21421_970-21359delACGCCCGAGAGGACAGGCGGTGGCGG AGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281683	AGGACGCC others(56): Show AGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGC CCGAGAAGACAGGC	A A	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0203 a0001c0001t0002g0203	1	330	0.0030	-63	c.970 others(82): Show c.970-21292_970-21230delACGCCCGAGAGGACAGGCGGTGGTGG AGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281726	AGGACGCC others(56): Show AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGC CCGAGAAGACAGGC	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG03704.hp1 HG00423.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0074 a0001c0001t0064 a0001c0001t0074	a0001c0001t0064g0311 a0001c0001t0074g0192 a0001c0001t0064g0311 a0001c0001t0074g0192	2	330	0.0061	-63	c.970 others(82): Show c.970-21249_970-21187delACGCCCGAGAAGACAGGCGGTGGCGG AGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281769	AGGACGCC others(56): Show AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGC CCGAGAGGACAGGC	A A	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0080 a0001c0001t0006g0080	1	330	0.0030	-63	c.970 others(82): Show c.970-21206_970-21144delACGCCCGAGAAGACAGGCGGTGGCGG AGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281812	AGGACGCC others(56): Show AGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGC CCGAGAAGACAGGC	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0307 a0001c0001t0009g0307	1	330	0.0030	-63	c.970 others(82): Show c.970-21163_970-21101delACGCCCGAGAGGACAGGCGGTGGTGG AGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281898	AGGACGCC others(56): Show AGGACGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGC CTGAGAAGACAGGC	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA21309.hp1 HG02280.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0260 a0001c0001t0004g0325 a0001c0001t0004g0260 a0001c0001t0004g0325	2	330	0.0061	-63	c.970 others(82): Show c.970-21077_970-21015delACGCCCGAGAGGACAGGCGGTGGCGG AGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281984	AGGACGCC others(56): Show AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGC CCGAGAAGACAGGC	A A	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	330	0.0030	-63	c.970 others(82): Show c.970-20991_970-20929delACGCCCGAGAAGACAGGCGGTGGCGG AGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282200	AGGACGCC others(56): Show AGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGC CCGAGAAGACAGGC	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0190 a0001c0001t0034g0190	1	330	0.0030	-63	c.970 others(82): Show c.970-20775_970-20713delACGCCTGAGAAGACAGGCGGTGGCGG AGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC10A6_chr4_86818468_86854384	86842807	TTTCTTTC others(56): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	350	0.0029	-63	c.377 others(80): Show c.377+5869_377+5931delGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar
SLC16A9_chr10_59645764_59714850	59681521	ATATGTGT others(56): Show ATATGTGTATGTGTATGTGTATGTATATGTATATGTATATGATGTATATG TATATGTGTATGTG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0128 a0001c0001t0007g0128	1	352	0.0028	-63	c.196 others(80): Show c.196+2512_196+2574delCACATACACATATACATATACATCATAT ACATATACATATACATACACATACACATACACATA	SLC16A9	ENSG00000165449.12	transcript	ENST00000395348.8	protein_coding	2/5			chr10	TogoVar
SLC25A16_chr10_68472998_68532523	68502792	GGGGTAGG others(56): Show GGGGTAGGGAGGGAAGCGGAGGGGAAAGGAGGGGGAGGGGAGGGGAAAGG AGGGGGAGGGGGAA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0220 a0001c0001t0010g0220	1	312	0.0032	-63	c.421 others(78): Show c.421+777_421+839delTTCCCCCTCCCCCTCCTTTCCCCTCCCCTC CCCCTCCTTTCCCCTCCGCTTCCCTCCCTACCC	SLC25A16	ENSG00000122912.15	transcript	ENST00000609923.6	protein_coding	4/8			chr10	TogoVar
SLC28A1_chr15_84879662_84950798	84928565	TCTTTCTT others(56): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTT CTTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02622.hp1 HG02622.hp2 others(1): Show HG02055.hp1 HG02622.hp1 HG02622.hp2 NA18522.hp1	a0001 a0010 a0001 a0010	a0001c0012 a0010c0018 a0010c0039 a0001c0012 a0010c0018 a0010c0039	a0001c0012t0001 a0010c0018t0001 a0010c0039t0001 a0001c0012t0001 a0010c0018t0001 a0010c0039t0001	a0001c0012t0001g0038 a0001c0012t0001g0039 a0010c0018t0001g0044 others(1): Show a0001c0012t0001g0038 a0001c0012t0001g0039 a0010c0018t0001g0044 a0010c0039t0001g0269	4	396	0.0101	-63	c.108 others(82): Show c.1083+4456_1084-4517delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTTCTTTCTTTCTTTTCTTTCTTTC	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18			chr15	TogoVar
SLC45A4_chr8_141202174_141313288	141203203	AGAGGGAG others(56): Show AGAGGGAGAGGGAGAGGGAGACCGTGGAGAGAGAGAGAGAGAGAGAGGGA GAGAGGGAGAGAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0005 a0001c0020t0005	a0001c0020t0005g0141 a0001c0020t0005g0141	1	188	0.0053	-63	c.83 others(74): Show c.8306_*8368delCCTCTCTCCCTCTCTCCCTCTCTCTCTCTCTCTC TCTCCACGGTCTCCCTCTCCCTCTCCCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3970		chr8	TogoVar
SLC45A4_chr8_141202174_141313288	141203442	AGAGAGAG others(56): Show AGAGAGAGACCGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGA GAGAGGGAGAGAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00408.hp1 others(16): Show HG00099.hp1 HG00323.hp2 HG00408.hp1 HG00639.hp1 HG00738.hp2 HG01167.hp1 HG01258.hp1 HG01433.hp1 HG01943.hp1 HG01978.hp1 HG02300.hp1 HG02523.hp1 HG02698.hp1 HG02818.hp1 HG04199.hp1 NA18906.hp1 NA18944.hp1 NA19065.hp2 NA20805.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0001c0004 a0002c0001 others(3): Show a0001c0003 a0001c0004 a0002c0001 a0003c0002 a0003c0011 a0003c0012	a0001c0003t0003 a0001c0004t0046 a0002c0001t0001 others(4): Show a0001c0003t0003 a0001c0004t0046 a0002c0001t0001 a0003c0002t0002 a0003c0002t0025 a0003c0011t0002 a0003c0012t0002	a0001c0003t0003g0184 a0001c0004t0046g0167 a0002c0001t0001g0019 others(16): Show a0001c0003t0003g0184 a0001c0004t0046g0167 a0002c0001t0001g0019 a0003c0002t0002g0040 a0003c0002t0002g0045 a0003c0002t0002g0046 a0003c0002t0002g0047 a0003c0002t0002g0069 a0003c0002t0002g0107 a0003c0002t0002g0113 a0003c0002t0002g0123 a0003c0002t0002g0131 a0003c0002t0002g0132 a0003c0002t0002g0133 a0003c0002t0002g0134 a0003c0002t0002g0138 a0003c0002t0025g0135 a0003c0011t0002g0050 a0003c0012t0002g0129	19	188	0.1011	-63	c.80 others(74): Show c.8067_*8129delCCTCTCTCCCTCTCTCCCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCCACGGTCTCTCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3731		chr8	TogoVar
SLC6A12_chr12_185081_219157	187147	CAAATTGT others(56): Show CAAATTGTAGCTGCCAGATTTGGCCTCTGTTCACCAGTCTGCAACTCAAA CACCAAAGGAAACG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0050 a0002c0003t0006g0050	1	420	0.0024	-63	c.38 others(74): Show c.3858_*3920delCGTTTCCTTTGGTGTTTGAGTTGCAGACTGGTGA ACAGAGGCCAAATCTGGCAGCTACAATTT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding		2933		chr12	TogoVar
SLC7A1_chr13_29504414_29600688	29558508	AGTGAGGG others(56): Show AGTGAGGGGGAGAGAATGTGAATGAGGGGGAGAGAATGTGAGTGATGGGG AGAGAATGTGAGTG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02895.hp1 HG02897.hp2 others(1): Show HG02145.hp1 HG02895.hp1 HG02897.hp2 HG03579.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0008 a0001c0004t0011 a0001c0004t0006 a0001c0004t0008 a0001c0004t0011	a0001c0004t0006g0087 a0001c0004t0008g0058 a0001c0004t0011g0091 others(1): Show a0001c0004t0006g0087 a0001c0004t0008g0058 a0001c0004t0011g0091 a0001c0004t0011g0096	4	330	0.0121	-63	c.-11 others(82): Show c.-114-4711_-114-4649delCACTCACATTCTCTCCCCATCACTCA CATTCTCTCCCCCTCATTCACATTCTCTCCCCCTCAC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC9A9_chr3_143260222_143853468	143449121	AATATGAT others(56): Show AATATGATATATATTATATAATTATAATATATAATATGATATATAATATA TAATATAATTATAT	A A	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0072 a0001c0002t0001g0072	1	108	0.0093	-63	c.146 others(84): Show c.1469+17853_1469+17915delATATAATTATATTATATATTATAT ATCATATTATATATTATAATTATATAATATATATCATAT	SLC9A9	ENSG00000181804.15	transcript	ENST00000316549.11	protein_coding	12/15			chr3	TogoVar
SMG7_chr1_183467499_183559191	183494789	TGGTGTCT others(56): Show TGGTGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGC TCACCACAACCTTG	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02896.hp1 HG02897.hp1 others(2): Show HG02809.hp1 HG02896.hp1 HG02897.hp1 HG03130.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0008 a0002c0002t0002g0028 a0002c0002t0002g0029 others(1): Show a0002c0002t0002g0008 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030	5	360	0.0139	-63	c.30- others(80): Show c.30-17984_30-17922delGGTGTCTCGCTCTGTTGCCCAGGCTGGA GTGCAGTGGTGCAATCTCGGCTCACCACAACCTTG	SMG7	ENSG00000116698.22	transcript	ENST00000688051.1	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
SMIM10L1_chr12_11166194_11181016	11168200	CGAAAGAA others(56): Show CGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	397	0.0025	-63	c.-31 others(74): Show c.-3156_-3094delGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAA	SMIM10L1	ENSG00000256537.5	transcript	ENST00000622602.2	protein_coding		2993		chr12	TogoVar
SMYD3_chr1_245744347_246512279	246172546	GCACACTT others(56): Show GCACACTTAGGCTACACAGGCCTAGAACACTCACTGTACTCTACTGTAGA CTTTATCAACACTA	G G	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	150	0.0067	-63	c.531 others(84): Show c.531+154592_531+154654delTAGTGTTGATAAAGTCTACAGTAG AGTACAGTGAGTGTTCTAGGCCTGTGTAGCCTAAGTGTG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar

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