Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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Results per page.

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
SLC2A4RG_chr20_63734776_63749050	63747425	GGGGGCAG others(34): Show GGGGGCAGGGGGTGAGCAGGGCCTGGTGGAGGTGGGGGGGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03098.hp2 NA19043.hp1 HG03041.hp1 HG03098.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0001t0006 a0001c0003t0015 a0001c0001t0005 a0001c0001t0006 a0001c0003t0015	a0001c0001t0005g0006 a0001c0001t0006g0027 a0001c0003t0015g0004 a0001c0001t0005g0006 a0001c0001t0006g0027 a0001c0003t0015g0004	3	416	0.0072	-41	c.44 others(52): Show c.4436_*4476delGGGGCAGGGGGTGAGCAGGGCCTGGTGGAGGTGG GGGGGGC	SLC2A4RG	ENSG00000125520.14	transcript	ENST00000266077.5	protein_coding		3376		chr20	TogoVar
SLC2A8_chr9_127392169_127412898	127409324	AAGATGAT others(34): Show AAGATGATGGGGAGGTGGGGGGAGATGATGGAGAGGTGGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0119 a0001c0001t0005g0119	1	418	0.0024	-41	c.20 others(52): Show c.2076_*2116delAGATGATGGGGAGGTGGGGGGAGATGATGGAGAG GTGGGGG	SLC2A8	ENSG00000136856.18	transcript	ENST00000373371.8	protein_coding		1427		chr9	TogoVar
SLC2A9_chr4_9821224_10026497	9926240	CTCACTAA others(34): Show CTCACTAATGCAAACACACATTGTCTCAGGACCAGTGGGTGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00408.hp2 others(41): Show HG00099.hp1 HG00140.hp2 HG00408.hp2 HG00639.hp2 HG01109.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01515.hp2 HG02015.hp1 HG02055.hp2 HG02074.hp1 HG02080.hp2 HG02135.hp2 HG02145.hp2 HG02300.hp2 HG02559.hp1 HG02615.hp1 HG02622.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp2 HG02896.hp1 HG03130.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG04184.hp1 NA18961.hp1 NA18974.hp2 NA18990.hp2 NA19002.hp2 NA19004.hp1 NA19010.hp1 NA19030.hp2 NA19054.hp2 NA19085.hp1 NA19087.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0010 a0001 a0004 a0010	a0001c0001 a0001c0013 a0004c0002 others(1): Show a0001c0001 a0001c0013 a0004c0002 a0010c0023	a0001c0001t0001 a0001c0013t0001 a0004c0002t0001 others(1): Show a0001c0001t0001 a0001c0013t0001 a0004c0002t0001 a0010c0023t0001	a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 others(41): Show a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0013t0001g0213 a0001c0013t0001g0278 a0004c0002t0001g0091 a0010c0023t0001g0157 a0010c0023t0001g0175	44	336	0.1310	-41	c.815 others(58): Show c.815-5709_815-5669delACACCCACTGGTCCTGAGACAATGTGTG TTTGCATTAGTGA	SLC2A9	ENSG00000109667.12	transcript	ENST00000264784.8	protein_coding	6/11			chr4	TogoVar
SLC2A9_chr4_9821224_10026497	9926245	TAATGCAA others(34): Show TAATGCAAACACACATTGTCTCAGGACCAGTGGGTGTTCACC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(128): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp1 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01099.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01346.hp1 HG01346.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02155.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02630.hp1 HG02698.hp1 HG02735.hp1 HG02809.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG03209.hp2 HG03471.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp2 NA18944.hp1 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18955.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp2 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18991.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA19000.hp2 NA19004.hp2 NA19007.hp2 NA19011.hp2 NA19012.hp2 NA19054.hp1 NA19056.hp1 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19066.hp2 NA19068.hp2 NA19074.hp2 NA19077.hp2 NA19082.hp1 NA19084.hp1 NA19085.hp2 NA19088.hp1 NA19090.hp2 NA19091.hp1 NA20129.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0007 a0008 a0009 a0010 a0012 a0015 a0017 a0018 a0020	a0001c0001 a0001c0036 a0002c0015 others(13): Show a0001c0001 a0001c0036 a0002c0015 a0003c0003 a0004c0002 a0004c0020 a0007c0007 a0007c0027 a0008c0010 a0009c0019 a0010c0017 a0012c0014 a0015c0035 a0017c0034 a0018c0028 a0020c0026	a0001c0001t0001 a0001c0036t0001 a0002c0015t0001 others(13): Show a0001c0001t0001 a0001c0036t0001 a0002c0015t0001 a0003c0003t0001 a0004c0002t0001 a0004c0020t0001 a0007c0007t0001 a0007c0027t0001 a0008c0010t0001 a0009c0019t0001 a0010c0017t0001 a0012c0014t0002 a0015c0035t0001 a0017c0034t0001 a0018c0028t0001 a0020c0026t0001	a0001c0001t0001g0182 a0001c0001t0001g0246 a0001c0036t0001g0266 others(128): Show a0001c0001t0001g0182 a0001c0001t0001g0246 a0001c0036t0001g0266 a0002c0015t0001g0189 a0002c0015t0001g0190 a0002c0015t0001g0216 a0003c0003t0001g0004 a0003c0003t0001g0014 a0003c0003t0001g0030 a0003c0003t0001g0034 a0003c0003t0001g0035 a0003c0003t0001g0036 a0003c0003t0001g0040 a0003c0003t0001g0042 a0003c0003t0001g0045 a0003c0003t0001g0061 a0003c0003t0001g0069 a0003c0003t0001g0094 a0003c0003t0001g0095 a0003c0003t0001g0096 a0003c0003t0001g0097 a0003c0003t0001g0098 a0003c0003t0001g0099 a0003c0003t0001g0100 a0003c0003t0001g0101 a0003c0003t0001g0102 a0003c0003t0001g0112 a0003c0003t0001g0114 a0003c0003t0001g0116 a0003c0003t0001g0117 a0003c0003t0001g0122 a0003c0003t0001g0123 a0003c0003t0001g0124 a0003c0003t0001g0125 a0003c0003t0001g0127 a0003c0003t0001g0128 a0003c0003t0001g0129 a0003c0003t0001g0132 a0003c0003t0001g0135 a0003c0003t0001g0136 a0003c0003t0001g0137 a0003c0003t0001g0138 a0003c0003t0001g0139 a0003c0003t0001g0140 a0004c0002t0001g0006 a0004c0002t0001g0008 a0004c0002t0001g0009 a0004c0002t0001g0010 a0004c0002t0001g0011 a0004c0002t0001g0012 a0004c0002t0001g0013 a0004c0002t0001g0016 a0004c0002t0001g0018 a0004c0002t0001g0021 a0004c0002t0001g0022 a0004c0002t0001g0023 a0004c0002t0001g0024 a0004c0002t0001g0025 a0004c0002t0001g0028 a0004c0002t0001g0029 a0004c0002t0001g0037 a0004c0002t0001g0038 a0004c0002t0001g0039 a0004c0002t0001g0044 a0004c0002t0001g0047 a0004c0002t0001g0048 a0004c0002t0001g0051 a0004c0002t0001g0054 a0004c0002t0001g0057 a0004c0002t0001g0066 a0004c0002t0001g0074 a0004c0002t0001g0075 a0004c0002t0001g0076 a0004c0002t0001g0077 a0004c0002t0001g0078 a0004c0002t0001g0081 a0004c0002t0001g0083 a0004c0002t0001g0086 a0004c0002t0001g0088 a0004c0002t0001g0104 a0004c0002t0001g0105 a0004c0002t0001g0106 a0004c0002t0001g0108 a0004c0002t0001g0111 a0004c0020t0001g0031 a0004c0020t0001g0070 a0007c0007t0001g0019 a0007c0007t0001g0020 a0007c0007t0001g0027 a0007c0007t0001g0032 a0007c0007t0001g0033 a0007c0007t0001g0043 a0007c0007t0001g0046 a0007c0007t0001g0050 a0007c0007t0001g0052 a0007c0007t0001g0053 a0007c0007t0001g0055 a0007c0007t0001g0060 a0007c0007t0001g0062 a0007c0007t0001g0080 a0007c0007t0001g0082 a0007c0007t0001g0084 a0007c0007t0001g0085 a0007c0007t0001g0087 a0007c0007t0001g0090 a0007c0007t0001g0107 a0007c0007t0001g0109 a0007c0007t0001g0115 a0007c0007t0001g0119 a0007c0007t0001g0120 a0007c0027t0001g0079 a0008c0010t0001g0007 a0008c0010t0001g0103 a0008c0010t0001g0110 a0008c0010t0001g0118 a0008c0010t0001g0130 a0008c0010t0001g0131 a0008c0010t0001g0133 a0008c0010t0001g0134 a0008c0010t0001g0141 a0009c0019t0001g0056 a0010c0017t0001g0267 a0010c0017t0001g0320 a0010c0017t0001g0333 a0012c0014t0002g0001 a0012c0014t0002g0002 a0012c0014t0002g0003 a0015c0035t0001g0228 a0017c0034t0001g0015 a0018c0028t0001g0059 a0020c0026t0001g0121	131	336	0.3899	-41	c.815 others(58): Show c.815-5714_815-5674delGGTGAACACCCACTGGTCCTGAGACAAT GTGTGTTTGCATT	SLC2A9	ENSG00000109667.12	transcript	ENST00000264784.8	protein_coding	6/11			chr4	TogoVar
SLC35F3_chr1_233899676_234329511	234108433	GATATATA others(34): Show GATATATATAAAAGATATATATTATTTATATATATAAAAGAT	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01099.hp1 HG00738.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0062 a0001c0001t0001g0063	2	158	0.0127	-41	c.284 others(62): Show c.284-122946_284-122906delAGATATATATATAAAAGATATATA TTATTTATATATATAAA	SLC35F3	ENSG00000183780.13	transcript	ENST00000366618.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC35G3_chr17_35187520_35199393	35190391	CAACAGAA others(34): Show CAACAGAATAAAGAATAAAATAATGACTATCTCAATAGACGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	478	0.0021	-41	c.28 others(52): Show c.2859_*2899delACGTCTATTGAGATAGTCATTATTTTATTCTTTA TTCTGTT	SLC35G3	ENSG00000164729.8	transcript	ENST00000297307.7	protein_coding		2128		chr17	TogoVar
SLC37A3_chr7_140328752_140403530	140362872	CCGGCCAG others(34): Show CCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(178): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01884.hp1 HG01891.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp1 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02886.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18946.hp2 NA18950.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp2 NA18957.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18974.hp1 NA18980.hp1 NA18983.hp2 NA18986.hp1 NA18990.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp2 NA19056.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19075.hp1 NA19075.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19087.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0003 a0001c0005 others(11): Show a0001c0001 a0001c0003 a0001c0005 a0001c0017 a0001c0018 a0001c0019 a0002c0002 a0002c0004 a0002c0008 a0002c0011 a0002c0013 a0002c0014 a0004c0009 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0009 a0001c0003t0010 a0001c0005t0002 a0001c0005t0019 a0001c0005t0020 a0001c0017t0001 a0001c0018t0005 a0001c0019t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0006 a0002c0002t0010 a0002c0002t0011 a0002c0002t0012 a0002c0002t0013 a0002c0002t0014 a0002c0004t0001 a0002c0008t0001 a0002c0011t0001 a0002c0013t0002 a0002c0014t0009 a0004c0009t0001 a0005c0010t0001	a0001c0001t0001g0004 a0001c0001t0001g0116 a0001c0001t0001g0125 others(174): Show a0001c0001t0001g0004 a0001c0001t0001g0116 a0001c0001t0001g0125 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0001g0249 a0001c0001t0001g0256 a0001c0001t0002g0002 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0121 a0001c0001t0002g0124 a0001c0001t0002g0133 a0001c0001t0002g0137 a0001c0001t0002g0155 a0001c0001t0002g0253 a0001c0001t0005g0003 a0001c0001t0005g0120 a0001c0001t0005g0161 a0001c0001t0006g0126 a0001c0001t0006g0127 a0001c0001t0006g0128 a0001c0001t0006g0129 a0001c0001t0006g0130 a0001c0001t0006g0131 a0001c0001t0006g0166 a0001c0001t0006g0171 a0001c0001t0006g0172 a0001c0003t0001g0019 a0001c0003t0002g0089 a0001c0003t0002g0231 a0001c0003t0004g0201 a0001c0003t0009g0230 a0001c0003t0009g0232 a0001c0003t0009g0273 a0001c0003t0010g0229 a0001c0005t0002g0239 a0001c0005t0002g0241 a0001c0005t0002g0242 a0001c0005t0019g0243 a0001c0005t0020g0184 a0001c0017t0001g0136 a0001c0018t0005g0014 a0001c0019t0001g0142 a0002c0002t0001g0005 a0002c0002t0001g0016 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0113 a0002c0002t0001g0144 a0002c0002t0001g0151 a0002c0002t0001g0153 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0269 a0002c0002t0001g0271 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0001g0279 a0002c0002t0001g0286 a0002c0002t0001g0287 a0002c0002t0001g0288 a0002c0002t0001g0290 a0002c0002t0001g0293 a0002c0002t0001g0296 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0303 a0002c0002t0001g0304 a0002c0002t0001g0305 a0002c0002t0001g0306 a0002c0002t0001g0308 a0002c0002t0001g0309 a0002c0002t0001g0310 a0002c0002t0001g0312 a0002c0002t0001g0314 a0002c0002t0001g0315 a0002c0002t0001g0316 a0002c0002t0001g0317 a0002c0002t0001g0318 a0002c0002t0001g0319 a0002c0002t0001g0321 a0002c0002t0001g0322 a0002c0002t0001g0323 a0002c0002t0001g0324 a0002c0002t0001g0325 a0002c0002t0001g0328 a0002c0002t0001g0329 a0002c0002t0001g0330 a0002c0002t0001g0331 a0002c0002t0001g0332 a0002c0002t0001g0334 a0002c0002t0002g0108 a0002c0002t0002g0143 a0002c0002t0002g0147 a0002c0002t0002g0148 a0002c0002t0002g0150 a0002c0002t0002g0152 a0002c0002t0002g0154 a0002c0002t0002g0162 a0002c0002t0002g0163 a0002c0002t0002g0169 a0002c0002t0002g0228 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0254 a0002c0002t0002g0266 a0002c0002t0002g0267 a0002c0002t0002g0268 a0002c0002t0002g0270 a0002c0002t0002g0272 a0002c0002t0002g0280 a0002c0002t0002g0284 a0002c0002t0002g0291 a0002c0002t0002g0292 a0002c0002t0002g0313 a0002c0002t0002g0333 a0002c0002t0002g0335 a0002c0002t0002g0337 a0002c0002t0002g0338 a0002c0002t0005g0018 a0002c0002t0005g0088 a0002c0002t0005g0104 a0002c0002t0005g0261 a0002c0002t0005g0294 a0002c0002t0005g0295 a0002c0002t0006g0336 a0002c0002t0010g0244 a0002c0002t0010g0247 a0002c0002t0011g0250 a0002c0002t0011g0251 a0002c0002t0011g0252 a0002c0002t0012g0276 a0002c0002t0012g0297 a0002c0002t0013g0285 a0002c0002t0014g0186 a0002c0004t0001g0149 a0002c0008t0001g0237 a0002c0008t0001g0326 a0002c0011t0001g0275 a0002c0011t0001g0289 a0002c0013t0002g0283 a0002c0014t0009g0098 a0004c0009t0001g0102 a0004c0009t0001g0112 a0005c0010t0001g0134	181	346	0.5231	-41	c.375 others(58): Show c.375+1495_375+1535delACCCCCCCCCCCGCCTCCCTCCCGGACG GGGCGGCTGGCCG	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	5/14			chr7	TogoVar
SLC39A11_chr17_72640949_73097688	72900136	AAGAAAAA others(34): Show AAGAAAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0006 a0004c0009t0006	a0004c0009t0006g0151 a0004c0009t0006g0151	1	180	0.0056	-41	c.430 others(60): Show c.430+47575_430+47615delCTTTCTTTCTTTCTTTCTTTCTTTTC TTTCTTTCTTTTTCT	SLC39A11	ENSG00000133195.12	transcript	ENST00000255559.8	protein_coding	5/9			chr17	TogoVar
SLC3A1_chr2_44270480_44326494	44317667	TATTTTCA others(34): Show TATTTTCAAAGAACACTAGACATAAAATATAACAATTTTCAA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0291 a0001c0003t0004g0291	1	354	0.0028	-41	c.161 others(60): Show c.1618-2519_1618-2479delCACTAGACATAAAATATAACAATTTT CAAATTTTCAAAGAA	SLC3A1	ENSG00000138079.14	transcript	ENST00000260649.11	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC43A3_chr11_57401954_57432121	57403465	GAAGAAGA others(34): Show GAAGAAGAAGAAGAGGAAGAAGAGGAAGAAGAGGAAGAAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG02165.hp2 HG03688.hp2 others(5): Show HG00673.hp2 HG02165.hp2 HG03688.hp2 NA18965.hp1 NA18971.hp1 NA18993.hp1 NA19010.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0010 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0111 a0001c0001t0002g0035 a0001c0001t0003g0009	8	330	0.0242	-41	c.42 others(52): Show c.4286_*4326delTTCTTCTTCCTCTTCTTCCTCTTCTTCCTCTTCT TCTTCTT	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3488		chr11	TogoVar
SLC43A3_chr11_57401954_57432121	57403473	AGAAGAGG others(34): Show AGAAGAGGAAGAAGAGGAAGAAGAGGAAGAAGAAAAGAAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG01071.hp1 NA18951.hp2 others(2): Show HG00140.hp1 HG01071.hp1 NA18951.hp2 NA19084.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0001g0026 a0001c0001t0001g0028 others(2): Show a0001c0001t0001g0003 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0157 a0001c0001t0002g0169	5	330	0.0152	-41	c.42 others(52): Show c.4278_*4318delCTCTTCTTTTCTTCTTCCTCTTCTTCCTCTTCTT CCTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3480		chr11	TogoVar
SLC45A4_chr8_141202174_141313288	141203432	GGAGAGAG others(34): Show GGAGAGAGAGAGAGAGAGACCGTGGAGAGAGAGAGAGAGAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG03239.hp1 HG00140.hp1 HG03239.hp1	a0001 a0003 a0001 a0003	a0001c0018 a0003c0002 a0001c0018 a0003c0002	a0001c0018t0021 a0003c0002t0002 a0001c0018t0021 a0003c0002t0002	a0001c0018t0021g0104 a0003c0002t0002g0108 a0001c0018t0021g0104 a0003c0002t0002g0108	2	188	0.0106	-41	c.80 others(52): Show c.8099_*8139delTCTCTCTCTCTCTCTCTCCACGGTCTCTCTCTCT CTCTCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3741		chr8	TogoVar
SLC66A2_chr18_79897420_79956653	79921801	GACAGGAA others(34): Show GACAGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGAC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00735.hp1 others(19): Show HG00099.hp1 HG00140.hp2 HG00735.hp1 HG01074.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp1 HG01433.hp2 HG01978.hp2 HG02735.hp2 HG02738.hp2 HG03654.hp1 HG03710.hp2 HG04184.hp2 NA18962.hp1 NA19030.hp1 NA19055.hp2 NA19060.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 a0001c0001t0019 a0001c0001t0030 a0001c0001t0035	a0001c0001t0001g0001 a0001c0001t0001g0047 a0001c0001t0001g0050 others(18): Show a0001c0001t0001g0001 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0066 a0001c0001t0001g0079 a0001c0001t0001g0090 a0001c0001t0001g0098 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0136 a0001c0001t0001g0175 a0001c0001t0001g0211 a0001c0001t0006g0236 a0001c0001t0006g0239 a0001c0001t0006g0254 a0001c0001t0010g0165 a0001c0001t0019g0056 a0001c0001t0030g0037 a0001c0001t0035g0238	22	352	0.0625	-41	c.392 others(58): Show c.392-2442_392-2402delGTCTCTCCTCCTCTGACCCTGACCTCTC CCTCGGTTCCTGT	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79942018	GGGAACAT others(34): Show GGGAACATGCCATGAGGAGCTCAGGTCCAGAGAAGGAGCAAA	G G	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0213 a0001c0001t0008g0213	1	352	0.0028	-41	c.337 others(58): Show c.337+1270_337+1310delTTTGCTCCTTCTCTGGACCTGAGCTCCT CATGGCATGTTCC	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	3/5			chr18	TogoVar
SLC6A13_chr12_215622_267836	239141	CATGCTCT others(34): Show CATGCTCTACCACGTCCACCCTGTTCCCTGCCCCTTCAGCCA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	442	0.0023	-41	c.479 others(58): Show c.479-1172_479-1132delTGGCTGAAGGGGCAGGGAACAGGGTGGA CGTGGTAGAGCAT	SLC6A13	ENSG00000010379.16	transcript	ENST00000343164.9	protein_coding	4/14			chr12	TogoVar
SLC6A6_chr3_14397606_14494349	14436531	CTTTTTTT others(34): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp2 HG00609.hp1 others(79): Show HG00423.hp2 HG00558.hp2 HG00609.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01496.hp1 HG01884.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG02004.hp1 HG02080.hp1 HG02148.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02683.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp2 HG02895.hp1 HG03041.hp1 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03669.hp1 HG03688.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG06807.hp1 NA18612.hp1 NA18906.hp1 NA18940.hp2 NA18941.hp2 NA18946.hp2 NA18966.hp2 NA18967.hp2 NA18986.hp2 NA19007.hp2 NA19012.hp1 NA19057.hp1 NA19060.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19080.hp1 NA19082.hp1 NA19085.hp1 NA19089.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0020 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0029 a0001c0001t0036 a0001c0001t0051 a0001c0001t0063 a0002c0002t0007 a0003c0003t0001 a0003c0003t0002 a0004c0005t0003	a0001c0001t0001g0006 a0001c0001t0001g0068 a0001c0001t0001g0077 others(78): Show a0001c0001t0001g0006 a0001c0001t0001g0068 a0001c0001t0001g0077 a0001c0001t0001g0103 a0001c0001t0001g0112 a0001c0001t0001g0151 a0001c0001t0001g0189 a0001c0001t0001g0195 a0001c0001t0001g0225 a0001c0001t0001g0247 a0001c0001t0001g0306 a0001c0001t0001g0363 a0001c0001t0002g0051 a0001c0001t0002g0072 a0001c0001t0002g0083 a0001c0001t0002g0094 a0001c0001t0002g0147 a0001c0001t0002g0185 a0001c0001t0002g0190 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0335 a0001c0001t0003g0005 a0001c0001t0003g0050 a0001c0001t0003g0059 a0001c0001t0003g0069 a0001c0001t0003g0108 a0001c0001t0003g0159 a0001c0001t0003g0164 a0001c0001t0003g0167 a0001c0001t0003g0173 a0001c0001t0003g0176 a0001c0001t0003g0194 a0001c0001t0003g0220 a0001c0001t0003g0233 a0001c0001t0003g0237 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0003g0346 a0001c0001t0003g0362 a0001c0001t0004g0057 a0001c0001t0004g0115 a0001c0001t0004g0149 a0001c0001t0004g0174 a0001c0001t0004g0323 a0001c0001t0005g0001 a0001c0001t0005g0008 a0001c0001t0005g0012 a0001c0001t0005g0013 a0001c0001t0005g0014 a0001c0001t0005g0015 a0001c0001t0005g0018 a0001c0001t0005g0021 a0001c0001t0005g0138 a0001c0001t0005g0337 a0001c0001t0005g0361 a0001c0001t0006g0208 a0001c0001t0006g0209 a0001c0001t0008g0266 a0001c0001t0009g0073 a0001c0001t0009g0092 a0001c0001t0009g0093 a0001c0001t0009g0224 a0001c0001t0010g0179 a0001c0001t0011g0049 a0001c0001t0011g0347 a0001c0001t0013g0336 a0001c0001t0020g0170 a0001c0001t0024g0133 a0001c0001t0025g0268 a0001c0001t0026g0332 a0001c0001t0029g0284 a0001c0001t0036g0124 a0001c0001t0051g0239 a0001c0001t0063g0371 a0002c0002t0007g0135 a0003c0003t0001g0036 a0003c0003t0001g0071 a0003c0003t0001g0232 a0003c0003t0002g0234 a0004c0005t0003g0084	82	376	0.2181	-41	c.-11 others(58): Show c.-11-7083_-11-7043delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	SLC6A6	ENSG00000131389.18	transcript	ENST00000622186.5	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLC7A1_chr13_29504414_29600688	29559049	AGGGGGAG others(34): Show AGGGGGAGAGAATGTGAGTGAGGCAGAGTGAATCTGAATGAG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01069.hp1 HG01071.hp1 others(4): Show HG00738.hp1 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01934.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0024 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0024 a0001c0001t0037	a0001c0001t0001g0232 a0001c0001t0001g0267 a0001c0001t0001g0268 others(4): Show a0001c0001t0001g0232 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0008g0044 a0001c0001t0024g0241 a0001c0001t0024g0269 a0001c0001t0037g0270	7	330	0.0212	-41	c.-11 others(60): Show c.-114-5230_-114-5190delCTCATTCAGATTCACTCTGCCTCACT CACATTCTCTCCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559057	AGAATGTG others(34): Show AGAATGTGAGTGAGGCAGAGTGAATCTGAATGAGGGGGGAGT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02165.hp2 HG04115.hp2 others(4): Show HG00438.hp1 HG02165.hp2 HG04115.hp2 NA18612.hp2 NA18991.hp2 NA18995.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0002t0004	a0001c0001t0001g0006 a0001c0001t0003g0146 a0001c0002t0002g0083 others(3): Show a0001c0001t0001g0006 a0001c0001t0003g0146 a0001c0002t0002g0083 a0001c0002t0002g0183 a0001c0002t0004g0153 a0001c0002t0004g0160	7	330	0.0212	-41	c.-11 others(60): Show c.-114-5238_-114-5198delACTCCCCCCTCATTCAGATTCACTCT GCCTCACTCACATTC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559218	TGAATGTG others(34): Show TGAATGTGAGTGACGGGGAGTGAATGTGAGTGAGGGGGGAGA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	330	0.0030	-41	c.-11 others(60): Show c.-114-5399_-114-5359delTCTCCCCCCTCACTCACATTCACTCC CCGTCACTCACATTC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559231	CGGGGAGT others(34): Show CGGGGAGTGAATGTGAGTGAGGGGGGAGAGAATGTGAGTGAG	C C	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0154 a0001c0002t0002g0154	1	330	0.0030	-41	c.-11 others(60): Show c.-114-5412_-114-5372delCTCACTCACATTCTCTCCCCCCTCAC TCACATTCACTCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559431	AGGGGGAG others(34): Show AGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAG	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00733.hp1 HG01167.hp1 others(3): Show HG00673.hp1 HG00733.hp1 HG01167.hp1 HG01433.hp2 HG04228.hp1 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0044 a0001c0002t0002 a0001c0002t0007 a0001c0001t0044 a0001c0002t0002 a0001c0002t0007	a0001c0001t0044g0224 a0001c0002t0002g0140 a0001c0002t0002g0313 others(3): Show a0001c0001t0044g0224 a0001c0002t0002g0140 a0001c0002t0002g0313 a0001c0002t0007g0001 a0001c0002t0007g0015 a0001c0002t0007g0021	6	330	0.0182	-41	c.-11 others(60): Show c.-114-5612_-114-5572delCTCACTCACATTCACTCCCCCTCACT CACATTCACTCCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC9A3_chr5_465456_529449	505529	AGAGTGAC others(34): Show AGAGTGACTGGGGGGGTGGGGTGGGGAGTGACCACGGAGGTG	A A	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0002 a0007c0016t0002	a0007c0016t0002g0017 a0007c0016t0002g0017	1	218	0.0046	-41	c.212 others(60): Show c.212-13499_212-13459delCACCTCCGTGGTCACTCCCCACCCCA CCCCCCCAGTCACTC	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A3_chr5_465456_529449	505540	GGGGGTGG others(34): Show GGGGGTGGGGTGGGGAGTGACCACGGAGGTGAGAGTGACTGT	G G	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0158 a0001c0008t0001g0158	1	218	0.0046	-41	c.212 others(60): Show c.212-13510_212-13470delACAGTCACTCTCACCTCCGTGGTCAC TCCCCACCCCACCCC	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A9_chr3_143260222_143853468	143449782	TATATAAT others(34): Show TATATAATTATATATATTTTATATATATAATTATATATTTAC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0033 a0001c0001t0004g0033	1	108	0.0093	-41	c.146 others(62): Show c.1469+17214_1469+17254delGTAAATATATAATTATATATATAA AATATATATAATTATAT	SLC9A9	ENSG00000181804.15	transcript	ENST00000316549.11	protein_coding	12/15			chr3	TogoVar
SLCO3A1_chr15_91848708_92170903	92016213	ATAGATAG others(34): Show ATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAT	A A	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02155.hp2 HG01978.hp1 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0046 a0001c0001t0016g0119 a0001c0001t0001g0046 a0001c0001t0016g0119	2	190	0.0105	-41	c.647 others(60): Show c.647-78638_647-78598delAGATAGATAGATTAGATAGATAGATA GATAGATAGATAGAT	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLFN12L_chr17_35459254_35542678	35530402	GAAGGAAG others(34): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAAGGGAAGGGAA	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02896.hp1 HG03453.hp2 HG02895.hp1 HG02896.hp1 HG03453.hp2	a0001 a0006 a0001 a0006	a0001c0002 a0006c0008 a0001c0002 a0006c0008	a0001c0002t0045 a0006c0008t0147 a0001c0002t0045 a0006c0008t0147	a0001c0002t0045g0165 a0001c0002t0045g0166 a0006c0008t0147g0167 a0001c0002t0045g0165 a0001c0002t0045g0166 a0006c0008t0147g0167	3	360	0.0083	-41	c.-60 others(60): Show c.-606+7130_-606+7170delTTCCCTTCCCTTCCCTTCCTTCCTTC CTTCCTTCCTTCCTT	SLFN12L	ENSG00000205045.12	transcript	ENST00000628453.4	protein_coding	1/4			chr17	TogoVar
SLFN12L_chr17_35459254_35542678	35530410	GAAGGAAG others(34): Show GAAGGAAGGAAGGAAGGAAGGGAAGGGAAGGGAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0123 a0001c0002t0017g0123	1	360	0.0028	-41	c.-60 others(60): Show c.-606+7122_-606+7162delTTTCTTTCTTCCCTTCCCTTCCCTTC CTTCCTTCCTTCCTT	SLFN12L	ENSG00000205045.12	transcript	ENST00000628453.4	protein_coding	1/4			chr17	TogoVar
SLFN12L_chr17_35459254_35542678	35530430	GGAAGGGA others(34): Show GGAAGGGAAGGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0271 a0002c0003t0001g0271	1	360	0.0028	-41	c.-60 others(60): Show c.-606+7102_-606+7142delTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTCCCTTCCCTTC	SLFN12L	ENSG00000205045.12	transcript	ENST00000628453.4	protein_coding	1/4			chr17	TogoVar
SLIT2_chr4_20246905_20625561	20291468	ATATATAT others(34): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	230	0.0044	-41	c.395 others(60): Show c.395+22589_395+22629delATATATATATATATATATATATATTT TTTTTTTTTTTTTTT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMOC2_chr6_168436184_168672992	168590247	CGGTCTGG others(34): Show CGGTCTGGTGGTGGTCAGGTGTGGCATGAGTTTAGGGGGCAG	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03516.hp1 NA19030.hp2 HG03225.hp1 HG03516.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0006 a0001c0002t0005 a0001c0007t0005 a0001c0001t0006 a0001c0002t0005 a0001c0007t0005	a0001c0001t0006g0160 a0001c0002t0005g0069 a0001c0007t0005g0050 a0001c0001t0006g0160 a0001c0002t0005g0069 a0001c0007t0005g0050	3	180	0.0167	-41	c.638 others(58): Show c.638-8570_638-8530delGGTCTGGTGGTGGTCAGGTGTGGCATGA GTTTAGGGGGCAG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
SMOC2_chr6_168436184_168672992	168653613	TCCTGAGC others(34): Show TCCTGAGCTCCAACCAAATGTTAGGAACTCACCAACCCTCTA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp1 HG02109.hp2 others(9): Show HG01243.hp2 HG01891.hp1 HG02109.hp2 HG02572.hp2 HG02602.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02976.hp2 HG03654.hp2 HG06807.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0015 a0001c0002t0002 a0001c0001t0001 a0001c0001t0015 a0001c0002t0002	a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0132 others(9): Show a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0132 a0001c0001t0015g0163 a0001c0002t0002g0001 a0001c0002t0002g0022 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0054	12	180	0.0667	-41	c.128 others(58): Show c.1285+460_1285+500delACCCTCTACCTGAGCTCCAACCAAATGT TAGGAACTCACCA	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168654268	CTCCTGAG others(34): Show CTCCTGAGCTCCAACCAAATGTTAGGAACTCACCAACCCTCT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG02559.hp2 others(3): Show HG01243.hp1 HG01884.hp2 HG02559.hp2 HG03195.hp1 HG03516.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0006 a0001c0002t0005 a0001c0004t0005 a0001c0001t0006 a0001c0002t0005 a0001c0004t0005	a0001c0001t0006g0128 a0001c0001t0006g0160 a0001c0002t0005g0069 others(3): Show a0001c0001t0006g0128 a0001c0001t0006g0160 a0001c0002t0005g0069 a0001c0004t0005g0048 a0001c0004t0005g0049 a0001c0004t0005g0051	6	180	0.0333	-41	c.128 others(60): Show c.1285+1041_1285+1081delTCCTGAGCTCCAACCAAATGTTAGGA ACTCACCAACCCTCT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	11/12			chr6	TogoVar
SMOC2_chr6_168436184_168672992	168654390	CTACCTGA others(34): Show CTACCTGAGCTCCAACCAAATGTTAGGAACTCACCACCCCTG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00738.hp2 HG01081.hp2 others(4): Show HG00099.hp2 HG00738.hp2 HG01081.hp2 HG01167.hp2 HG01496.hp2 HG02074.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0003t0004 a0001c0001t0001 a0001c0001t0004 a0001c0003t0004	a0001c0001t0001g0142 a0001c0001t0004g0118 a0001c0001t0004g0122 others(4): Show a0001c0001t0001g0142 a0001c0001t0004g0118 a0001c0001t0004g0122 a0001c0001t0004g0129 a0001c0003t0004g0100 a0001c0003t0004g0101 a0001c0003t0004g0102	7	180	0.0389	-41	c.128 others(60): Show c.1285+1262_1285+1302delAATGTTAGGAACTCACCACCCCTGTA CCTGAGCTCCAACCA	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX29_chr16_11971734_12579287	12476380	AAAAATAT others(34): Show AAAAATATATATATATATATATATATATATATACATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0124 a0001c0001t0040g0124	1	176	0.0057	-41	c.203 others(60): Show c.2038-1337_2038-1297delAAATATATATATATATATATATATAT ATATACATATATATA	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
SON_chr21_33538038_33582481	33577661	ACACACAC others(34): Show ACACACACACACACACACACACACACACACACACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	364	0.0028	-41	c.12 others(52): Show c.1238_*1278delCACACACACACACACACACACACACACACACACA CACACAC	SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding		181		chr21	TogoVar
SOX6_chr11_15961449_16361546	16132390	GAAAGAAA others(34): Show GAAAGAAAGAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG02056.hp1 HG01167.hp2 HG01169.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0001t0008 a0001c0003t0002 a0001c0001t0005 a0001c0001t0008 a0001c0003t0002	a0001c0001t0005g0106 a0001c0001t0008g0107 a0001c0003t0002g0108 a0001c0001t0005g0106 a0001c0001t0008g0107 a0001c0003t0002g0108	3	218	0.0138	-41	c.778 others(60): Show c.778-20508_778-20468delTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTTTTCTTTCTTT	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16132394	GAAAGAAA others(34): Show GAAAGAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01069.hp1 HG02155.hp2 HG00544.hp1 HG01069.hp1 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0042 a0001c0001t0002 a0001c0001t0004 a0001c0001t0042	a0001c0001t0002g0073 a0001c0001t0004g0112 a0001c0001t0042g0215 a0001c0001t0002g0073 a0001c0001t0004g0112 a0001c0001t0042g0215	3	218	0.0138	-41	c.778 others(60): Show c.778-20512_778-20472delTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTTTTCTTT	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15			chr11	TogoVar
SP100_chr2_230411201_230550606	230510473	CTTTTTTT others(34): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0115 a0003c0004t0003g0115	1	290	0.0035	-41	c.205 others(58): Show c.2053-633_2053-593delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	23/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPACA7_chr13_112371355_112439689	112383116	AAAAGAAA others(34): Show AAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0295	1	391	0.0026	-41	c.94+ others(56): Show c.94+6645_94+6685delAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAA	SPACA7	ENSG00000153498.12	transcript	ENST00000283550.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPDYE1_chr7_43992897_44015124	44014593	GCCCCGCC others(34): Show GCCCCGCCCTCACCCGGAAGCGCTCCTCCAGCAGGGACAGCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0003	1	394	0.0025	-41	c.59 others(52): Show c.5973_*6013delCCCCGCCCTCACCCGGAAGCGCTCCTCCAGCAGG GACAGCT	SPDYE1	ENSG00000136206.5	transcript	ENST00000693451.1	protein_coding		4470		chr7	TogoVar
SPIRE1_chr18_12441512_12663107	12596875	CCCTGCAC others(34): Show CCCTGCACTGTCCTGCTAACCCCCTTCCTGTTTCCTCCTTCA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02895.hp1 HG02895.hp2 others(3): Show HG02615.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02976.hp2 NA18969.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0017 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0017 a0005c0007t0017	a0001c0001t0002g0233 a0001c0001t0003g0270 a0001c0001t0003g0271 others(3): Show a0001c0001t0002g0233 a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0003g0273 a0001c0001t0017g0274 a0005c0007t0017g0272	6	328	0.0183	-41	c.372 others(60): Show c.372+38146_372+38186delTGAAGGAGGAAACAGGAAGGGGGTTA GCAGGACAGTGCAGG	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPOCK1_chr5_136970298_137504326	137269003	ATTTCAAC others(34): Show ATTTCAACATATTTTATAACTTGGATGGAATTTGAAGCATTC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG01071.hp1 others(79): Show HG00280.hp2 HG00408.hp2 HG01071.hp1 HG01099.hp1 HG01099.hp2 HG01257.hp1 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01981.hp1 HG02080.hp1 HG02135.hp2 HG02155.hp2 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03579.hp1 HG03579.hp2 HG03831.hp1 HG03834.hp2 HG03942.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18906.hp1 NA18941.hp2 NA18945.hp2 NA18953.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp2 NA18966.hp1 NA18968.hp1 NA18970.hp2 NA18979.hp1 NA18983.hp2 NA18992.hp1 NA18995.hp2 NA19000.hp2 NA19002.hp1 NA19004.hp2 NA19007.hp2 NA19043.hp1 NA19074.hp1 NA19084.hp1 NA19085.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0018 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0030 a0001c0001t0033 a0001c0002t0001 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0014 a0001c0002t0019 a0001c0003t0002 a0001c0003t0015 a0001c0004t0006 a0002c0005t0002	a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0029 others(79): Show a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0047 a0001c0001t0001g0053 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0091 a0001c0001t0002g0097 a0001c0001t0002g0100 a0001c0001t0002g0106 a0001c0001t0002g0110 a0001c0001t0002g0112 a0001c0001t0002g0116 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0122 a0001c0001t0002g0132 a0001c0001t0002g0135 a0001c0001t0002g0139 a0001c0001t0002g0144 a0001c0001t0003g0032 a0001c0001t0003g0051 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0081 a0001c0001t0004g0020 a0001c0001t0004g0034 a0001c0001t0004g0079 a0001c0001t0004g0092 a0001c0001t0005g0099 a0001c0001t0005g0103 a0001c0001t0005g0126 a0001c0001t0005g0134 a0001c0001t0006g0013 a0001c0001t0006g0040 a0001c0001t0006g0041 a0001c0001t0007g0039 a0001c0001t0007g0046 a0001c0001t0007g0087 a0001c0001t0008g0005 a0001c0001t0008g0011 a0001c0001t0008g0057 a0001c0001t0008g0073 a0001c0001t0009g0089 a0001c0001t0010g0012 a0001c0001t0010g0038 a0001c0001t0011g0096 a0001c0001t0011g0115 a0001c0001t0013g0108 a0001c0001t0013g0109 a0001c0001t0015g0098 a0001c0001t0018g0009 a0001c0001t0023g0088 a0001c0001t0025g0052 a0001c0001t0026g0085 a0001c0001t0030g0113 a0001c0001t0033g0150 a0001c0002t0001g0001 a0001c0002t0001g0014 a0001c0002t0001g0044 a0001c0002t0001g0050 a0001c0002t0005g0111 a0001c0002t0005g0121 a0001c0002t0005g0129 a0001c0002t0005g0130 a0001c0002t0006g0090 a0001c0002t0007g0080 a0001c0002t0014g0017 a0001c0002t0019g0010 a0001c0003t0002g0094 a0001c0003t0015g0093 a0001c0004t0006g0037 a0002c0005t0002g0104	82	152	0.5395	-41	c.187 others(58): Show c.187-1989_187-1949delGAATGCTTCAAATTCCATCCAAGTTATA AAATATGTTGAAA	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10			chr5	TogoVar
SPOP_chr17_49593884_49683097	49618507	CTTATTTC others(34): Show CTTATTTCACAATTACTCCAGCAAGACAAACCATAGGCCTCA	C C	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0028 a0001c0001t0006g0028	1	390	0.0026	-41	c.480 others(56): Show c.480+433_480+473delTGAGGCCTATGGTTTGTCTTGCTGGAGTAA TTGTGAAATAA	SPOP	ENSG00000121067.19	transcript	ENST00000504102.6	protein_coding	5/9			chr17	TogoVar
SPPL2B_chr19_2323684_2360095	2347136	TACGCGCT others(34): Show TACGCGCTCTCATTCACCTGATTCCGTTCTCTCTCCACACAC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02683.hp2 HG02922.hp1 others(2): Show HG02257.hp1 HG02683.hp2 HG02922.hp1 HG03209.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0018 a0001c0001 a0001c0004 a0001c0018	a0001c0001t0002 a0001c0001t0021 a0001c0004t0001 others(1): Show a0001c0001t0002 a0001c0001t0021 a0001c0004t0001 a0001c0018t0002	a0001c0001t0002g0041 a0001c0001t0021g0251 a0001c0004t0001g0117 others(1): Show a0001c0001t0002g0041 a0001c0001t0021g0251 a0001c0004t0001g0117 a0001c0018t0002g0161	5	414	0.0121	-41	c.135 others(60): Show c.1354+1821_1354+1861delACCTGATTCCGTTCTCTCTCCACACA CACGCGCTCTCATTC	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
SRGAP1_chr12_63839700_64167217	64140581	CACACCAG others(34): Show CACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAA	C C	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0098 a0001c0001t0003g0098	1	170	0.0059	-41	c.288 others(60): Show c.2881-1713_2881-1673delACACCAGTTAGAATGGCAATCATTAA AAAGTCAGGAAACAA	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	21/21			chr12	TogoVar
SRGAP2_chr1_206198541_206469436	206372939	CTTTCTTT others(34): Show CTTTCTTTCTTTCTTTCTTTTCTTTCCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0022 a0001c0003t0022	a0001c0003t0022g0136 a0001c0003t0022g0136	1	182	0.0055	-41	c.424 others(60): Show c.424-11074_424-11034delTTTCTTTCTTTCTTTCTTTTCTTTCC TTTCTTTCTTTCTTT	SRGAP2	ENSG00000266028.8	transcript	ENST00000573034.8	protein_coding	4/22			chr1	TogoVar
SRGAP2_chr1_206198541_206469436	206372955	CTTTTCTT others(34): Show CTTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0079 a0001c0003t0004g0079	1	182	0.0055	-41	c.424 others(60): Show c.424-11058_424-11018delTTTTCTTTCCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTT	SRGAP2	ENSG00000266028.8	transcript	ENST00000573034.8	protein_coding	4/22			chr1	TogoVar
SRGAP3_chr3_8975591_9254646	9086713	CACATATA others(34): Show CACATATACATATAATATGTATTTTATATGTATATATGTATT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0114 a0001c0001t0006g0114	1	228	0.0044	-41	c.424 others(58): Show c.424-6667_424-6627delAATACATATATACATATAAAATACATAT TATATGTATATGT	SRGAP3	ENSG00000196220.17	transcript	ENST00000383836.8	protein_coding	3/21			chr3	TogoVar
SRP54_chr14_34977992_35034567	35030161	GCCCAGGC others(34): Show GCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0378 a0001c0001t0002g0378	1	396	0.0025	-41	c.10 others(52): Show c.1010_*1050delCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTC ACTGCAA	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding		595		chr14	TogoVar
SS18L1_chr20_62138769_62187514	62143081	GCCCGCGC others(34): Show GCCCGCGCCGCTGCCCCGCGCACGCCCGCGGGCGCCCACAGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	316	0.0032	-41	c.-73 others(50): Show c.-739_-699delCCCGCGCCGCTGCCCCGCGCACGCCCGCGGGCGCCC ACAGC	SS18L1	ENSG00000184402.15	transcript	ENST00000331758.8	protein_coding		687		chr20	TogoVar

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Search Results (Total: 1267 hits)