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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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SMIM13_chr6_11088834_11143733	11089299	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00408.hp1 others(125): Show HG00140.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG01071.hp1 HG01106.hp1 HG01123.hp1 HG01257.hp1 HG01258.hp1 HG01358.hp1 HG01361.hp1 HG01496.hp2 HG01516.hp1 HG01928.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02572.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp2 HG03017.hp1 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04228.hp1 NA18612.hp1 NA18747.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18949.hp1 NA18952.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18978.hp1 NA18979.hp2 NA18984.hp2 NA18985.hp1 NA18988.hp2 NA18989.hp2 NA18992.hp2 NA18993.hp1 NA18997.hp1 NA18998.hp2 NA18999.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19068.hp1 NA19074.hp2 NA19076.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19089.hp2 NA19090.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0001t0031	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 others(87): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0177 a0001c0001t0002g0005 a0001c0001t0002g0011 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0143 a0001c0001t0002g0147 a0001c0001t0002g0152 a0001c0001t0002g0158 a0001c0001t0002g0167 a0001c0001t0003g0001 a0001c0001t0003g0009 a0001c0001t0003g0030 a0001c0001t0003g0032 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0208 a0001c0001t0003g0231 a0001c0001t0003g0234 a0001c0001t0003g0237 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0248 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0004g0003 a0001c0001t0004g0062 a0001c0001t0004g0065 a0001c0001t0004g0077 a0001c0001t0005g0013 a0001c0001t0005g0196 a0001c0001t0006g0006 a0001c0001t0006g0294 a0001c0001t0008g0228 a0001c0001t0015g0009 a0001c0001t0016g0003 a0001c0001t0019g0174 a0001c0001t0020g0015 a0001c0001t0023g0020 a0001c0001t0031g0099	128	400	0.3200	-21	c.-50 others(32): Show c.-5014_-4994delTTTTTTTTTTTTTTTTTTTTT		SMIM13	ENSG00000224531.6	transcript	ENST00000416247.4	protein_coding					4534		chr6	TogoVar
SMIM13_chr6_11088834_11143733	11096556	TTGGGGAG others(14): Show TTGGGGAGAGGAGGCAAGGATC	T T	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0206 a0001c0001t0003g0206	1	400	0.0025	-21	c.76+ others(36): Show c.76+2168_76+2188delTGGGGAGAGGAGGCAAGGATC		SMIM13	ENSG00000224531.6	transcript	ENST00000416247.4	protein_coding	1/1						chr6	TogoVar
SMIM21_chr18_75404476_75432703	75426631	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03017.hp2 NA18987.hp2 HG03017.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0032 a0001c0001t0003g0032	2	432	0.0046	-21	c.129 others(36): Show c.129+783_129+803delTTTTTTTTTTTTTTTTTTTTT		SMIM21	ENSG00000206026.7	transcript	ENST00000579022.5	protein_coding	1/2						chr18	TogoVar
SMIM23_chr5_171780817_171796136	171787004	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18964.hp1 NA18941.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0048 a0001c0001t0001g0049	2	430	0.0047	-21	c.105 others(38): Show c.105+1040_105+1060delTTTTTTTTTTTTTTTTTTTTT		SMIM23	ENSG00000185662.11	transcript	ENST00000523047.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
SMIM31_chr4_164749131_164808795	164758801	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02818.hp1 HG02895.hp1 others(2): Show HG01081.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0032 a0001c0001t0001 a0001c0001t0007 a0001c0001t0032	a0001c0001t0001g0114 a0001c0001t0007g0111 a0001c0001t0007g0112 others(2): Show a0001c0001t0001g0114 a0001c0001t0007g0111 a0001c0001t0007g0112 a0001c0001t0007g0113 a0001c0001t0032g0110	5	364	0.0137	-21	c.-26 others(38): Show c.-26+4410_-26+4430delTTTTTTTTTTTTTTTTTTTTT		SMIM31	ENSG00000248771.5	transcript	ENST00000507311.1	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr4	TogoVar
SMIM46_chr19_14107324_14117476	14109962	AAAAATAT others(14): Show AAAAATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01358.hp1 NA18612.hp1 others(1): Show HG00735.hp1 HG01358.hp1 NA18612.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	4	368	0.0109	-21	c.23 others(32): Show c.2341_*2361delATATATATATATATATATTTT		SMIM46	ENSG00000289762.1	transcript	ENST00000699221.1	protein_coding					2361		chr19	TogoVar
SMN2_chr5_70044669_70082595	70046393	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0088 a0001c0002t0001g0088	1	108	0.0093	-21	c.-32 others(32): Show c.-3292_-3272delTTTTTTTTTTTTTTTTTTTTT		SMN2	ENSG00000205571.15	transcript	ENST00000380743.9	protein_coding					3275		chr5	TogoVar
SMOC2_chr6_168436184_168672992	168669199	CCCCGTCC others(14): Show CCCCGTCCCCCACACCCCGCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0160 a0001c0001t0006g0160	1	180	0.0056	-21	c.27 others(32): Show c.2762_*2782delCCCGTCCCCCACACCCCGCGT		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding					1208		chr6	TogoVar
SMPD4_chr2_130146408_130186602	130147746	GGATCTAA others(14): Show GGATCTAAAAAAAGGGAAGTGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0155 a0001c0002t0002g0155	1	332	0.0030	-21	c.47 others(32): Show c.4788_*4808delGCACTTCCCTTTTTTTAGATC		SMPD4	ENSG00000136699.20	transcript	ENST00000680298.1	protein_coding					3661		chr2	TogoVar
SMS_chrX_21935709_21999837	21941884	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02293.hp2 HG02523.hp2 others(5): Show HG01978.hp2 HG02293.hp2 HG02523.hp2 HG03942.hp1 NA18951.hp2 NA19067.hp1 NA19078.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0002 a0001c0001t0001g0222 a0001c0001t0001g0223 others(5): Show a0001c0001t0001g0002 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0002g0221 a0001c0001t0007g0226	8	298	0.0269	-21	c.49+ others(36): Show c.49+1030_49+1050delAAAAAAAAAAAAAAAAAAAAA		SMS	ENSG00000102172.16	transcript	ENST00000404933.7	protein_coding	1/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
SMTNL2_chr17_4579529_4613319	4589938	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA19000.hp2 NA18973.hp2 NA19000.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0038 a0002c0001t0001g0038	2	442	0.0045	-21	c.400 others(38): Show c.400-2397_400-2377delTTTTTTTTTTTTTTTTTTTTT		SMTNL2	ENSG00000188176.12	transcript	ENST00000389313.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr17	TogoVar
SMUG1_chr12_54175366_54193985	54185488	ATAAATAA others(14): Show ATAAATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp1 HG00673.hp1 others(12): Show HG00544.hp2 HG00609.hp1 HG00673.hp1 HG02027.hp2 HG02056.hp1 NA18940.hp2 NA18963.hp2 NA18967.hp1 NA18990.hp1 NA19010.hp1 NA19011.hp1 NA19054.hp2 NA19086.hp1 NA19088.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0028 a0001c0001t0001 a0001c0001t0028	a0001c0001t0001g0013 a0001c0001t0001g0028 a0001c0001t0001g0168 others(4): Show a0001c0001t0001g0013 a0001c0001t0001g0028 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0201 a0001c0001t0028g0192	15	438	0.0343	-21	c.-19 others(38): Show c.-19-1550_-19-1530delATTTATTTATTTATTTATTTA		SMUG1	ENSG00000123415.16	transcript	ENST00000682136.1	protein_coding	2/3						chr12	TogoVar
SMURF2_chr17_64537282_64667307	64631280	GGGAGAGA others(14): Show GGGAGAGAGAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02809.hp2 HG02559.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0047 a0001c0001t0013 a0001c0001t0047	a0001c0001t0013g0003 a0001c0001t0047g0155 a0001c0001t0013g0003 a0001c0001t0047g0155	2	174	0.0115	-21	c.53- others(38): Show c.53-24661_53-24641delTCTCTCTCTCTCTCTCTCTCC		SMURF2	ENSG00000108854.16	transcript	ENST00000262435.14	protein_coding	1/18						chr17	TogoVar
SMYD3_chr1_245744347_246512279	245803403	ATATGAAC others(14): Show ATATGAACTGGCCAATTTCACG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02486.hp2 HG02647.hp2 others(4): Show HG02145.hp1 HG02486.hp2 HG02647.hp2 HG02886.hp1 HG03471.hp1 HG03579.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0003 a0002c0004 others(1): Show a0001c0006 a0002c0003 a0002c0004 a0002c0005	a0001c0006t0003 a0002c0003t0001 a0002c0003t0002 others(2): Show a0001c0006t0003 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0005t0001	a0001c0006t0003g0001 a0002c0003t0001g0112 a0002c0003t0001g0137 others(4): Show a0001c0006t0003g0001 a0002c0003t0001g0112 a0002c0003t0001g0137 a0002c0003t0001g0148 a0002c0003t0002g0114 a0002c0004t0001g0119 a0002c0005t0001g0136	7	150	0.0467	-21	c.107 others(42): Show c.1077-39275_1077-39255delCGTGAAATTGGCCAGTTCATA		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	246101064	GTTTTTTG others(14): Show GTTTTTTGTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0141 a0002c0003t0001g0141	1	150	0.0067	-21	c.532 others(42): Show c.532-171148_532-171128delAAAAAAAAAAAAAACAAAAAA		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SNAP47_chr1_227730435_227786226	227736502	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	396	0.0025	-21	c.-46 others(38): Show c.-46+1018_-46+1038delTTTTTTTTTTTTTTTTTTTTT		SNAP47	ENSG00000143740.15	transcript	ENST00000617596.5	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr1	TogoVar
SNAPC3_chr9_15417876_15466626	15459864	TAAGAATA others(14): Show TAAGAATAGCTACACTCACAAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0000 a0000	a0000c0008 a0000c0008	a0000c0008t0016 a0000c0008t0016	a0000c0008t0016g0235 a0000c0008t0016g0235	1	308	0.0033	-21	c.1_ others(27): Show c.1_*21delGAATAGCTACACTCACAAAAA		SNAPC3	ENSG00000164975.16	transcript	ENST00000380821.8	protein_coding	9/9				1	INFO_REALIGN_3_PRIME	chr9	TogoVar
SNCAIP_chr5_122307237_122469219	122326606	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA19011.hp1 NA19082.hp2 NA18982.hp1 NA19011.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203	3	222	0.0135	-21	c.-47 others(40): Show c.-47+14335_-47+14355delTTTTTTTTTTTTTTTTTTTTT		SNCAIP	ENSG00000064692.20	transcript	ENST00000261368.13	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
SNCAIP_chr5_122307237_122469219	122430722	CTAAAAAT others(14): Show CTAAAAATTATGAGAAATTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00621.hp2 others(40): Show HG00140.hp1 HG00423.hp1 HG00621.hp2 HG00642.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01175.hp1 HG01192.hp1 HG01993.hp2 HG02004.hp2 HG02040.hp2 HG02109.hp1 HG02258.hp1 HG02523.hp2 HG02698.hp1 HG02738.hp2 HG02970.hp1 HG03239.hp1 HG03491.hp2 HG03704.hp2 HG03831.hp2 HG04115.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18952.hp2 NA18961.hp2 NA18963.hp1 NA18977.hp1 NA18977.hp2 NA18982.hp1 NA18982.hp2 NA19007.hp2 NA19011.hp1 NA19060.hp2 NA19062.hp2 NA19082.hp2 NA19087.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0007 a0005c0012 a0001c0001 a0001c0007 a0005c0012	a0001c0001t0001 a0001c0001t0002 a0001c0007t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0007t0001 a0005c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(40): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0022 a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0048 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0088 a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0142 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0002g0059 a0001c0007t0001g0209 a0005c0012t0001g0179	43	222	0.1937	-21	c.118 others(40): Show c.1183-1233_1183-1213delAAATTTTTTAAAAATTATGAG		SNCAIP	ENSG00000064692.20	transcript	ENST00000261368.13	protein_coding	5/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
SNCA_chr4_89719099_89842161	89792291	TTTGTTGT others(14): Show TTTGTTGTTGTTGTTGTTGTTG	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00621.hp1 others(59): Show HG00408.hp1 HG00438.hp1 HG00621.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01123.hp1 HG01255.hp2 HG01928.hp1 HG01934.hp1 HG01993.hp2 HG02004.hp2 HG02074.hp2 HG02083.hp1 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02165.hp1 HG02258.hp2 HG02523.hp1 HG02723.hp2 HG02818.hp1 HG02965.hp2 HG03453.hp1 HG04115.hp2 NA18747.hp1 NA18940.hp2 NA18941.hp1 NA18943.hp2 NA18945.hp1 NA18947.hp2 NA18948.hp1 NA18951.hp2 NA18954.hp2 NA18959.hp2 NA18962.hp1 NA18967.hp1 NA18971.hp2 NA18975.hp2 NA18980.hp1 NA18982.hp2 NA18984.hp1 NA18991.hp2 NA18995.hp1 NA18997.hp2 NA19003.hp1 NA19009.hp2 NA19012.hp1 NA19043.hp1 NA19054.hp1 NA19056.hp2 NA19062.hp2 NA19070.hp1 NA19074.hp1 NA19075.hp2 NA19078.hp2 NA19081.hp2 NA19082.hp1 NA19084.hp2 NA19086.hp2 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0012 a0001c0001t0017 a0001c0001t0022 a0001c0001t0029 a0001c0001t0032 a0002c0003t0002	a0001c0001t0001g0246 a0001c0001t0001g0254 a0001c0001t0002g0001 others(54): Show a0001c0001t0001g0246 a0001c0001t0001g0254 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0010 a0001c0001t0002g0133 a0001c0001t0002g0226 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0236 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0286 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0005g0235 a0001c0001t0005g0248 a0001c0001t0005g0272 a0001c0001t0012g0245 a0001c0001t0012g0251 a0001c0001t0012g0259 a0001c0001t0017g0247 a0001c0001t0017g0256 a0001c0001t0022g0266 a0001c0001t0029g0244 a0001c0001t0032g0255 a0002c0003t0002g0276	62	338	0.1834	-21	c.306 others(40): Show c.306+29934_306+29954delCAACAACAACAACAACAACAA		SNCA	ENSG00000145335.17	transcript	ENST00000394991.8	protein_coding	4/5						chr4	TogoVar
SNRNP25_chr16_48828_62669	52446	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp2 HG00738.hp2 others(2): Show HG00733.hp1 HG00733.hp2 HG00738.hp2 HG02818.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0011 a0001c0001t0002 a0001c0001t0007 a0001c0001t0011	a0001c0001t0002g0002 a0001c0001t0007g0021 a0001c0001t0011g0005 a0001c0001t0002g0002 a0001c0001t0007g0021 a0001c0001t0011g0005	5	424	0.0118	-21	c.-15 others(32): Show c.-1570_-1550delAAAAAAAAAAAAAAAAAAAAA		SNRNP25	ENSG00000161981.11	transcript	ENST00000293861.8	protein_coding					1381		chr16	TogoVar
SNRNP25_chr16_48828_62669	52775	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(223): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18943.hp1 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18991.hp2 NA18994.hp2 NA18997.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp2 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0002t0004 a0001c0002t0006 a0001c0002t0010 a0001c0004t0001 a0001c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 others(29): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0002g0002 a0001c0001t0003g0003 a0001c0001t0003g0010 a0001c0001t0004g0001 a0001c0001t0005g0001 a0001c0001t0006g0034 a0001c0001t0010g0005 a0001c0001t0012g0019 a0001c0001t0013g0001 a0001c0001t0015g0022 a0001c0002t0004g0044 a0001c0002t0006g0001 a0001c0002t0006g0011 a0001c0002t0010g0031 a0001c0004t0001g0009 a0001c0005t0001g0001	226	424	0.5330	-21	c.-12 others(32): Show c.-1241_-1221delAAAAAAAAAAAAAAAAAAAAC		SNRNP25	ENSG00000161981.11	transcript	ENST00000293861.8	protein_coding					1052		chr16	TogoVar
SNRNP25_chr16_48828_62669	52778	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAACAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp1 NA18994.hp1 HG02293.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0004g0002 a0001c0001t0001g0001 a0001c0001t0004g0002	2	424	0.0047	-21	c.-12 others(32): Show c.-1238_-1218delAAAAAAAAAAAAAAAAACAAT		SNRNP25	ENSG00000161981.11	transcript	ENST00000293861.8	protein_coding					1049		chr16	TogoVar
SNRPE_chr1_203856599_203876152	203869289	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	416	0.0024	-21	c.224 others(36): Show c.224-574_224-554delTTTTTTTTTTTTTTTTTTTTT		SNRPE	ENSG00000182004.13	transcript	ENST00000414487.7	protein_coding	4/4					INFO_REALIGN_3_PRIME	chr1	TogoVar
SNTB2_chr16_69182164_69314052	69310070	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 HG02280.hp2 HG01169.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0097 a0001c0001t0005g0146 a0001c0001t0003g0097 a0001c0001t0005g0146	2	218	0.0092	-21	c.91 others(32): Show c.9147_*9167delTTTTTTTTTTTTTTTTTTTTT		SNTB2	ENSG00000168807.17	transcript	ENST00000336278.9	protein_coding					1019		chr16	TogoVar
SNX12_chrX_71054247_71073334	71066152	ACTTGGGC others(14): Show ACTTGGGCAAGTTACTTAAACT	A A	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0084 a0001c0002t0003g0084	1	309	0.0032	-21	c.165 others(38): Show c.165+1969_165+1989delAGTTTAAGTAACTTGCCCAAG		SNX12	ENSG00000147164.12	transcript	ENST00000374274.8	protein_coding	1/3						chrX	TogoVar
SNX16_chr8_81794583_81847185	81796366	ACACACAC others(14): Show ACACACACACACACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	306	0.0033	-21	c.51 others(32): Show c.5110_*5130delGTGTGTGTGTGTGTGTGTGTG		SNX16	ENSG00000104497.15	transcript	ENST00000345957.9	protein_coding					3216		chr8	TogoVar
SNX16_chr8_81794583_81847185	81839610	ACAGTAAA others(14): Show ACAGTAAATTTAGCTCTTTCTT	A A	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG01169.hp2 HG01169.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0006 a0004c0007t0006	a0004c0007t0006g0214 a0004c0007t0006g0214	1	306	0.0033	-21	c.356 others(30): Show c.356_375+1delAAGAAAGAGCTAAATTTACTG	p.Glu others(5): Show p.Glu119fs	SNX16	ENSG00000104497.15	transcript	ENST00000345957.9	protein_coding	2/8		356/1035	119/344			chr8	TogoVar
SNX18_chr5_54512759_54551586	54513874	ATATATAT others(14): Show ATATATATGATATATATAAATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0008 a0001c0001t0035g0008	1	390	0.0026	-21	c.-40 others(32): Show c.-4078_-4058delTATATATGATATATATAAATT		SNX18	ENSG00000178996.14	transcript	ENST00000381410.5	protein_coding					3884		chr5	TogoVar
SNX1_chr15_64090982_64149231	64141012	GATAGATA others(14): Show GATAGATAGATAGATGATAGAT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02145.hp2 HG02280.hp2 HG03098.hp1 others(3): Show HG02145.hp2 HG02280.hp2 HG03098.hp1 HG03209.hp1 HG03516.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0003 a0001c0001t0012g0015 a0001c0001t0012g0093 others(2): Show a0001c0001t0012g0003 a0001c0001t0012g0015 a0001c0001t0012g0093 a0001c0001t0012g0158 a0001c0001t0012g0197	6	270	0.0222	-21	c.34 others(32): Show c.3409_*3429delGATAGATATAGATAGATAGAT		SNX1	ENSG00000028528.15	transcript	ENST00000559844.6	protein_coding	15/15				3409	INFO_REALIGN_3_PRIME	chr15	TogoVar
SNX27_chr1_151607050_151704080	151676270	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02148.hp2 HG03688.hp1 HG02145.hp2 HG02148.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0120 a0001c0001t0171 a0001c0001t0063 a0001c0001t0120 a0001c0001t0171	a0001c0001t0063g0066 a0001c0001t0120g0335 a0001c0001t0171g0072 a0001c0001t0063g0066 a0001c0001t0120g0335 a0001c0001t0171g0072	3	366	0.0082	-21	c.115 others(40): Show c.1150-7053_1150-7033delTTTTTTTTTTTTTTTTTTTTT		SNX27	ENSG00000143376.14	transcript	ENST00000458013.7	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
SNX29_chr16_11971734_12579287	12476370	AAAAAAAA others(14): Show AAAAAAAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0089 a0001c0002t0089	a0001c0002t0089g0072 a0001c0002t0089g0072	1	176	0.0057	-21	c.203 others(40): Show c.2038-1347_2038-1327delAAAAAAAAAAAAATATATATA		SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	18/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX29_chr16_11971734_12579287	12476378	AAAAAAAT others(14): Show AAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0028 a0001c0012t0002g0028	1	176	0.0057	-21	c.203 others(40): Show c.2038-1339_2038-1319delAAAAATATATATATATATATA		SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	18/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX29_chr16_11971734_12579287	12476382	AAATATAT others(14): Show AAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0092 a0001c0004t0092	a0001c0004t0092g0102 a0001c0004t0092g0102	1	176	0.0057	-21	c.203 others(40): Show c.2038-1335_2038-1315delATATATATATATATATATATA		SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	18/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX29_chr16_11971734_12579287	12476384	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0030 a0001c0001t0036g0030	1	176	0.0057	-21	c.203 others(40): Show c.2038-1334_2038-1314delTATATATATATATATATATAT		SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	18/20						chr16	TogoVar
SNX29_chr16_11971734_12579287	12512397	TATATATA others(14): Show TATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0004 a0001c0007t0002g0004	1	176	0.0057	-21	c.217 others(42): Show c.2179-12304_2179-12284delATATATATATATATATATATA		SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	19/20						chr16	TogoVar
SNX31_chr8_100567889_100654665	100571570	TGCAGCTG others(14): Show TGCAGCTGGGGAGCTCACTCTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0006 a0007c0007t0006	a0007c0007t0006g0133 a0007c0007t0006g0133	1	304	0.0033	-21	c.22 others(32): Show c.2274_*2294delCAGAGTGAGCTCCCCAGCTGC		SNX31	ENSG00000174226.9	transcript	ENST00000311812.7	protein_coding					1318		chr8	TogoVar
SNX32_chr11_65828963_65858701	65832211	GACCCCAG others(14): Show GACCCCAGCTTCTCTCCACTCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	390	0.0026	-21	c.-18 others(32): Show c.-1854_-1834delACCCCAGCTTCTCTCCACTCA		SNX32	ENSG00000172803.18	transcript	ENST00000308342.7	protein_coding					1751		chr11	TogoVar
SNX4_chr3_125441650_125525202	125506817	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01496.hp1 others(8): Show HG01167.hp2 HG01169.hp2 HG01496.hp1 HG02257.hp2 HG02486.hp2 HG02559.hp1 HG02622.hp2 HG02630.hp1 HG03139.hp2 HG03486.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 others(8): Show a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0271 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0002g0356 a0001c0001t0002g0357	11	360	0.0306	-21	c.142 others(38): Show c.142-2094_142-2074delTTTTTTTTTTTTTTTTTTTTT		SNX4	ENSG00000114520.11	transcript	ENST00000251775.9	protein_coding	1/13						chr3	TogoVar
SNX6_chr14_34556093_34635148	34557496	ATTCTTCT others(14): Show ATTCTTCTTCTTCTTCTTCTTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00609.hp2 HG00673.hp1 others(31): Show HG00408.hp1 HG00609.hp2 HG00673.hp1 HG00738.hp1 HG01243.hp2 HG02040.hp1 HG02735.hp2 HG02896.hp2 HG02897.hp2 HG03927.hp1 HG04184.hp1 HG04228.hp1 NA18612.hp1 NA18946.hp1 NA18951.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18974.hp1 NA18974.hp2 NA18979.hp1 NA18985.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19060.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0008 a0001c0001t0001g0075 a0001c0001t0001g0076 others(31): Show a0001c0001t0001g0008 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0178 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0202 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0002t0001g0108 a0001c0002t0002g0072 a0001c0002t0002g0073	34	322	0.1056	-21	c.56 others(32): Show c.5605_*5625delGAAGAAGAAGAAGAAGAAGAA		SNX6	ENSG00000129515.20	transcript	ENST00000362031.10	protein_coding					3596		chr14	TogoVar
SNX7_chr1_98656721_98765500	98663252	GGTTTTTT others(14): Show GGTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01175.hp2 HG01934.hp1 others(17): Show HG00597.hp2 HG01175.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp1 HG02004.hp1 HG02109.hp1 HG02165.hp2 HG02572.hp1 HG03471.hp2 HG03486.hp1 NA18906.hp2 NA18965.hp1 NA18972.hp1 NA18985.hp1 NA18989.hp1 NA18998.hp2 NA19063.hp1 NA19064.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0009 a0001c0001t0001g0092 a0001c0001t0001g0093 others(17): Show a0001c0001t0001g0009 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0008t0001g0094	20	378	0.0529	-21	c.180 others(38): Show c.180+1342_180+1362delGTTTTTTTTTTTTTTTTTTTT		SNX7	ENSG00000162627.17	transcript	ENST00000306121.8	protein_coding	1/8						chr1	TogoVar
SNX8_chr7_2246770_2319441	2317251	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG04228.hp2 NA18941.hp1 others(3): Show HG00423.hp2 HG04228.hp2 NA18941.hp1 NA18973.hp1 NA18983.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0009 a0001c0001t0024 others(1): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0024 a0001c0002t0010	a0001c0001t0001g0229 a0001c0001t0001g0242 a0001c0001t0001g0253 others(3): Show a0001c0001t0001g0229 a0001c0001t0001g0242 a0001c0001t0001g0253 a0001c0001t0009g0202 a0001c0001t0024g0099 a0001c0002t0010g0244	6	370	0.0162	-21	c.-28 others(32): Show c.-2851_-2831delAAAAAAAAAAAAAAAAAAAAA		SNX8	ENSG00000106266.11	transcript	ENST00000222990.8	protein_coding					2811		chr7	TogoVar
SOAT1_chr1_179288797_179363680	179328857	AACATGGC others(14): Show AACATGGCAAAACCCTGTGTCT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03540.hp2 HG01891.hp2 HG03540.hp2	a0001 a0001	a0001c0014 a0001c0015 a0001c0014 a0001c0015	a0001c0014t0045 a0001c0015t0050 a0001c0014t0045 a0001c0015t0050	a0001c0014t0045g0156 a0001c0015t0050g0233 a0001c0014t0045g0156 a0001c0015t0050g0233	2	382	0.0052	-21	c.177 others(38): Show c.177+5366_177+5386delTGGCAAAACCCTGTGTCTACA		SOAT1	ENSG00000057252.13	transcript	ENST00000367619.8	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
SOD1_chr21_31654693_31673931	31669301	GGTAGACG others(14): Show GGTAGACGCTGGCACAACCTAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	426	0.0024	-21	c.72 others(30): Show c.724_*744delGTAGACGCTGGCACAACCTAC		SOD1	ENSG00000142168.15	transcript	ENST00000270142.11	protein_coding					371		chr21	TogoVar
SON_chr21_33538038_33582481	33555090	AAGCCGCC others(14): Show AAGCCGCCGCAGCCGCACCCCC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00323.hp1 HG00639.hp2 HG00738.hp2 others(14): Show HG00323.hp1 HG00639.hp2 HG00738.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp2 HG01358.hp2 HG01975.hp1 HG02129.hp1 HG02129.hp2 HG03704.hp2 NA18968.hp1 NA19009.hp1 NA19009.hp2 NA19068.hp1	a0005 a0007 a0015 others(2): Show a0005 a0007 a0015 a0023 a0025	a0005c0008 a0005c0015 a0005c0026 others(5): Show a0005c0008 a0005c0015 a0005c0026 a0005c0028 a0007c0007 a0015c0033 a0023c0043 a0025c0048	a0005c0008t0001 a0005c0015t0001 a0005c0026t0001 others(5): Show a0005c0008t0001 a0005c0015t0001 a0005c0026t0001 a0005c0028t0001 a0007c0007t0001 a0015c0033t0001 a0023c0043t0001 a0025c0048t0001	a0005c0008t0001g0030 a0005c0008t0001g0089 a0005c0008t0001g0164 others(13): Show a0005c0008t0001g0030 a0005c0008t0001g0089 a0005c0008t0001g0164 a0005c0008t0001g0168 a0005c0008t0001g0222 a0005c0015t0001g0111 a0005c0015t0001g0157 a0005c0026t0001g0002 a0005c0028t0001g0019 a0007c0007t0001g0048 a0007c0007t0001g0064 a0007c0007t0001g0179 a0007c0007t0001g0180 a0015c0033t0001g0026 a0023c0043t0001g0033 a0025c0048t0001g0030	17	364	0.0467	-21	c.593 others(30): Show c.5931_5951delCAGCCGCACCCCCAGCCGCCG	p.Ser others(15): Show p.Ser1978_Arg1984del	SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding	3/12	5986/8393	5931/7281	1977/2426		INFO_REALIGN_3_PRIME	chr21	TogoVar
SON_chr21_33538038_33582481	33555174	CAGCCGCC others(14): Show CAGCCGCCGGAGCCGCACCCCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18906.hp1 NA18906.hp1	a0005 a0005	a0005c0035 a0005c0035	a0005c0035t0001 a0005c0035t0001	a0005c0035t0001g0011 a0005c0035t0001g0011	1	364	0.0028	-21	c.594 others(30): Show c.5949_5969delCCGGAGCCGCACCCCTAGCCG	p.Arg others(15): Show p.Arg1984_Arg1990del	SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding	3/12	6004/8393	5949/7281	1983/2426		INFO_REALIGN_3_PRIME	chr21	TogoVar
SON_chr21_33538038_33582481	33577681	ACACACAC others(14): Show ACACACACACACACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	364	0.0028	-21	c.12 others(32): Show c.1258_*1278delCACACACACACACACACACAC		SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding					201		chr21	TogoVar
SON_chr21_33538038_33582481	33580463	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG03130.hp1 HG01243.hp2 HG03130.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0001 a0005c0008t0001 a0001c0001t0001 a0005c0008t0001	a0001c0001t0001g0098 a0005c0008t0001g0089 a0001c0001t0001g0098 a0005c0008t0001g0089	2	364	0.0055	-21	c.40 others(32): Show c.4040_*4060delAAAAAAAAAAAAAAAAAAAAA		SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding					2983		chr21	TogoVar
SORCS2_chr4_7187538_7747827	7235477	GACTGTGT others(14): Show GACTGTGTCTTGACTGTAGGCT	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02717.hp2 HG06807.hp1 others(1): Show HG02615.hp2 HG02717.hp2 HG06807.hp1 NA20300.hp1	a0001 a0005 a0001 a0005	a0001c0005 a0001c0010 a0005c0008 a0001c0005 a0001c0010 a0005c0008	a0001c0005t0001 a0001c0005t0042 a0001c0010t0027 others(1): Show a0001c0005t0001 a0001c0005t0042 a0001c0010t0027 a0005c0008t0013	a0001c0005t0001g0156 a0001c0005t0042g0157 a0001c0010t0027g0105 others(1): Show a0001c0005t0001g0156 a0001c0005t0042g0157 a0001c0010t0027g0105 a0005c0008t0013g0155	4	168	0.0238	-21	c.480 others(40): Show c.480+42354_480+42374delTGTGTCTTGACTGTAGGCTAC		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7255872	CCCCGGGG others(14): Show CCCCGGGGCTGGAGCGTGGGGA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02717.hp2 NA20300.hp1 HG02615.hp2 HG02717.hp2 NA20300.hp1	a0001 a0005 a0001 a0005	a0001c0005 a0005c0008 a0001c0005 a0005c0008	a0001c0005t0001 a0001c0005t0042 a0005c0008t0013 a0001c0005t0001 a0001c0005t0042 a0005c0008t0013	a0001c0005t0001g0156 a0001c0005t0042g0157 a0005c0008t0013g0155 a0001c0005t0001g0156 a0001c0005t0042g0157 a0005c0008t0013g0155	3	168	0.0179	-21	c.480 others(40): Show c.480+62767_480+62787delACCCGGGGCTGGAGCGTGGGG		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr4	TogoVar

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