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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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
SORCS2_chr4_7187538_7747827	7255938	CGGGGCTG others(14): Show CGGGGCTGGAGCGTGGGGCCCT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02040.hp1 HG02293.hp2 others(4): Show HG01192.hp1 HG02040.hp1 HG02293.hp2 HG02451.hp2 HG02572.hp1 NA18906.hp2 NA19000.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0002 a0001c0006 a0001c0031 others(3): Show a0001c0002 a0001c0006 a0001c0031 a0003c0012 a0003c0042 a0008c0052	a0001c0002t0002 a0001c0002t0067 a0001c0006t0066 others(4): Show a0001c0002t0002 a0001c0002t0067 a0001c0006t0066 a0001c0031t0026 a0003c0012t0055 a0003c0042t0003 a0008c0052t0004	a0001c0002t0002g0062 a0001c0002t0067g0115 a0001c0006t0066g0084 others(4): Show a0001c0002t0002g0062 a0001c0002t0067g0115 a0001c0006t0066g0084 a0001c0031t0026g0144 a0003c0012t0055g0033 a0003c0042t0003g0066 a0008c0052t0004g0030	7	168	0.0417	-21	c.480 others(40): Show c.480+62830_480+62850delCCCTGGGGCTGGAGCGTGGGG		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7356990	TGAGCAGA others(14): Show TGAGCAGAGCAGAGGAGCCTCA	T T	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0050 a0002c0050	a0002c0050t0045 a0002c0050t0045	a0002c0050t0045g0132 a0002c0050t0045g0132	1	168	0.0060	-21	c.481 others(40): Show c.481-39297_481-39277delGAGCAGAGCAGAGGAGCCTCA		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26						chr4	TogoVar
SORCS2_chr4_7187538_7747827	7522879	TTCCCTCC others(14): Show TTCCCTCCTCCCTCTTCTCTCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG00642.hp2 others(59): Show HG00099.hp1 HG00639.hp1 HG00642.hp2 HG00733.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01952.hp1 HG01981.hp2 HG02109.hp1 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02809.hp1 HG02886.hp1 HG02922.hp2 HG02976.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03492.hp1 HG03540.hp2 HG03710.hp2 HG03942.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18906.hp1 NA19030.hp1 NA19043.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0009 a0011 a0012 a0013 a0015 a0018	a0001c0001 a0001c0002 a0001c0003 others(31): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0009 a0001c0010 a0001c0011 a0001c0014 a0001c0016 a0001c0017 a0001c0033 a0001c0036 a0001c0041 a0001c0047 a0001c0048 a0001c0053 a0002c0004 a0002c0050 a0003c0012 a0003c0013 a0003c0035 a0003c0042 a0004c0007 a0004c0043 a0004c0044 a0005c0008 a0005c0045 a0009c0025 a0011c0027 a0012c0039 a0013c0032 a0015c0023 a0018c0055	a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 others(56): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0018 a0001c0001t0025 a0001c0001t0069 a0001c0001t0072 a0001c0002t0054 a0001c0002t0058 a0001c0002t0067 a0001c0003t0009 a0001c0003t0016 a0001c0003t0022 a0001c0003t0052 a0001c0003t0064 a0001c0005t0007 a0001c0005t0019 a0001c0005t0023 a0001c0006t0017 a0001c0006t0066 a0001c0009t0001 a0001c0009t0051 a0001c0010t0027 a0001c0010t0076 a0001c0011t0017 a0001c0011t0060 a0001c0014t0019 a0001c0014t0034 a0001c0016t0001 a0001c0016t0013 a0001c0017t0005 a0001c0033t0075 a0001c0036t0044 a0001c0041t0013 a0001c0047t0071 a0001c0048t0001 a0001c0053t0001 a0002c0004t0012 a0002c0050t0045 a0003c0012t0036 a0003c0013t0021 a0003c0013t0033 a0003c0035t0007 a0003c0042t0003 a0004c0007t0001 a0004c0007t0015 a0004c0043t0037 a0004c0044t0046 a0005c0008t0001 a0005c0008t0013 a0005c0045t0001 a0009c0025t0031 a0011c0027t0002 a0012c0039t0063 a0013c0032t0030 a0015c0023t0008 a0018c0055t0048	a0001c0001t0003g0048 a0001c0001t0003g0053 a0001c0001t0004g0097 others(59): Show a0001c0001t0003g0048 a0001c0001t0003g0053 a0001c0001t0004g0097 a0001c0001t0010g0129 a0001c0001t0012g0137 a0001c0001t0013g0125 a0001c0001t0018g0011 a0001c0001t0025g0071 a0001c0001t0025g0072 a0001c0001t0069g0092 a0001c0001t0072g0161 a0001c0002t0054g0050 a0001c0002t0058g0019 a0001c0002t0067g0115 a0001c0003t0009g0086 a0001c0003t0016g0091 a0001c0003t0022g0043 a0001c0003t0052g0147 a0001c0003t0064g0005 a0001c0005t0007g0065 a0001c0005t0007g0154 a0001c0005t0019g0104 a0001c0005t0023g0032 a0001c0006t0017g0117 a0001c0006t0066g0084 a0001c0009t0001g0151 a0001c0009t0051g0042 a0001c0010t0027g0105 a0001c0010t0076g0163 a0001c0011t0017g0120 a0001c0011t0060g0107 a0001c0014t0019g0139 a0001c0014t0034g0040 a0001c0016t0001g0009 a0001c0016t0013g0039 a0001c0017t0005g0056 a0001c0033t0075g0160 a0001c0036t0044g0022 a0001c0041t0013g0031 a0001c0047t0071g0051 a0001c0048t0001g0146 a0001c0053t0001g0044 a0002c0004t0012g0035 a0002c0050t0045g0132 a0003c0012t0036g0010 a0003c0013t0021g0100 a0003c0013t0033g0041 a0003c0035t0007g0075 a0003c0042t0003g0066 a0004c0007t0001g0026 a0004c0007t0015g0166 a0004c0043t0037g0058 a0004c0044t0046g0016 a0005c0008t0001g0006 a0005c0008t0013g0155 a0005c0045t0001g0148 a0009c0025t0031g0025 a0011c0027t0002g0116 a0012c0039t0063g0064 a0013c0032t0030g0149 a0015c0023t0008g0122 a0018c0055t0048g0150	62	168	0.3691	-21	c.549 others(38): Show c.549-8624_549-8604delCCTCCCTCTTCTCTCCTCCCT		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7565991	AATGGTGA others(14): Show AATGGTGATGATGGTGATAATG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(154): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA19000.hp1 NA19000.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19066.hp1 NA19066.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0015 a0016 a0017 a0018	a0001c0001 a0001c0002 a0001c0003 others(49): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0009 a0001c0010 a0001c0011 a0001c0014 a0001c0015 a0001c0016 a0001c0017 a0001c0026 a0001c0028 a0001c0029 a0001c0030 a0001c0031 a0001c0033 a0001c0034 a0001c0036 a0001c0037 a0001c0038 a0001c0041 a0001c0047 a0001c0048 a0001c0049 a0001c0051 a0001c0053 a0002c0004 a0002c0050 a0003c0012 a0003c0013 a0003c0035 a0003c0042 a0004c0007 a0004c0043 a0004c0044 a0005c0008 a0006c0018 a0006c0020 a0006c0021 a0006c0022 a0007c0056 a0008c0052 a0009c0025 a0010c0040 a0011c0027 a0012c0039 a0015c0023 a0016c0019 a0017c0054 a0018c0055	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(127): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0023 a0001c0001t0025 a0001c0001t0032 a0001c0001t0050 a0001c0001t0057 a0001c0001t0068 a0001c0001t0069 a0001c0001t0072 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0010 a0001c0002t0011 a0001c0002t0041 a0001c0002t0043 a0001c0002t0047 a0001c0002t0053 a0001c0002t0054 a0001c0002t0058 a0001c0002t0061 a0001c0002t0065 a0001c0002t0067 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0005 a0001c0003t0008 a0001c0003t0009 a0001c0003t0010 a0001c0003t0011 a0001c0003t0015 a0001c0003t0016 a0001c0003t0019 a0001c0003t0022 a0001c0003t0052 a0001c0003t0064 a0001c0005t0001 a0001c0005t0004 a0001c0005t0007 a0001c0005t0014 a0001c0005t0019 a0001c0005t0042 a0001c0006t0001 a0001c0006t0002 a0001c0006t0017 a0001c0006t0066 a0001c0009t0029 a0001c0009t0051 a0001c0010t0027 a0001c0010t0073 a0001c0010t0076 a0001c0011t0016 a0001c0011t0017 a0001c0011t0060 a0001c0014t0019 a0001c0014t0034 a0001c0015t0011 a0001c0016t0001 a0001c0016t0013 a0001c0017t0005 a0001c0017t0016 a0001c0026t0062 a0001c0028t0028 a0001c0029t0074 a0001c0030t0040 a0001c0031t0026 a0001c0033t0075 a0001c0034t0009 a0001c0036t0044 a0001c0037t0020 a0001c0038t0038 a0001c0041t0013 a0001c0047t0071 a0001c0048t0001 a0001c0049t0001 a0001c0051t0001 a0001c0053t0001 a0002c0004t0002 a0002c0004t0003 a0002c0004t0006 a0002c0004t0008 a0002c0004t0012 a0002c0004t0014 a0002c0004t0024 a0002c0004t0056 a0002c0050t0045 a0003c0012t0036 a0003c0012t0055 a0003c0013t0021 a0003c0013t0033 a0003c0035t0007 a0003c0042t0003 a0004c0007t0001 a0004c0007t0015 a0004c0043t0037 a0004c0044t0046 a0005c0008t0001 a0005c0008t0013 a0006c0018t0059 a0006c0020t0020 a0006c0021t0070 a0006c0022t0039 a0007c0056t0021 a0008c0052t0004 a0009c0025t0031 a0010c0040t0004 a0011c0027t0002 a0012c0039t0063 a0015c0023t0008 a0016c0019t0018 a0017c0054t0022 a0018c0055t0048	a0001c0001t0002g0089 a0001c0001t0003g0048 a0001c0001t0003g0053 others(154): Show a0001c0001t0002g0089 a0001c0001t0003g0048 a0001c0001t0003g0053 a0001c0001t0003g0098 a0001c0001t0004g0097 a0001c0001t0004g0138 a0001c0001t0005g0067 a0001c0001t0005g0130 a0001c0001t0006g0055 a0001c0001t0006g0111 a0001c0001t0007g0063 a0001c0001t0008g0142 a0001c0001t0009g0014 a0001c0001t0009g0085 a0001c0001t0010g0129 a0001c0001t0012g0036 a0001c0001t0012g0047 a0001c0001t0012g0137 a0001c0001t0013g0125 a0001c0001t0017g0003 a0001c0001t0018g0011 a0001c0001t0018g0099 a0001c0001t0020g0052 a0001c0001t0023g0168 a0001c0001t0025g0071 a0001c0001t0025g0072 a0001c0001t0032g0141 a0001c0001t0050g0106 a0001c0001t0057g0094 a0001c0001t0068g0007 a0001c0001t0069g0092 a0001c0001t0072g0161 a0001c0002t0001g0087 a0001c0002t0001g0123 a0001c0002t0001g0143 a0001c0002t0002g0062 a0001c0002t0002g0074 a0001c0002t0002g0133 a0001c0002t0003g0131 a0001c0002t0004g0018 a0001c0002t0004g0028 a0001c0002t0005g0069 a0001c0002t0006g0077 a0001c0002t0006g0158 a0001c0002t0006g0159 a0001c0002t0007g0008 a0001c0002t0010g0045 a0001c0002t0011g0112 a0001c0002t0041g0096 a0001c0002t0043g0070 a0001c0002t0047g0020 a0001c0002t0053g0082 a0001c0002t0054g0050 a0001c0002t0058g0019 a0001c0002t0061g0121 a0001c0002t0065g0004 a0001c0002t0067g0115 a0001c0003t0001g0081 a0001c0003t0002g0073 a0001c0003t0003g0088 a0001c0003t0005g0079 a0001c0003t0008g0135 a0001c0003t0009g0086 a0001c0003t0010g0001 a0001c0003t0010g0021 a0001c0003t0011g0080 a0001c0003t0015g0034 a0001c0003t0015g0140 a0001c0003t0016g0091 a0001c0003t0019g0023 a0001c0003t0022g0043 a0001c0003t0052g0147 a0001c0003t0064g0005 a0001c0005t0001g0156 a0001c0005t0004g0101 a0001c0005t0007g0065 a0001c0005t0014g0102 a0001c0005t0019g0104 a0001c0005t0042g0157 a0001c0006t0001g0054 a0001c0006t0001g0119 a0001c0006t0002g0118 a0001c0006t0017g0117 a0001c0006t0066g0084 a0001c0009t0029g0038 a0001c0009t0051g0042 a0001c0010t0027g0105 a0001c0010t0073g0167 a0001c0010t0076g0163 a0001c0011t0016g0076 a0001c0011t0017g0120 a0001c0011t0060g0107 a0001c0014t0019g0139 a0001c0014t0034g0040 a0001c0015t0011g0002 a0001c0015t0011g0015 a0001c0016t0001g0009 a0001c0016t0013g0039 a0001c0017t0005g0056 a0001c0017t0016g0124 a0001c0026t0062g0049 a0001c0028t0028g0152 a0001c0029t0074g0162 a0001c0030t0040g0109 a0001c0031t0026g0144 a0001c0033t0075g0160 a0001c0034t0009g0093 a0001c0036t0044g0022 a0001c0037t0020g0017 a0001c0038t0038g0128 a0001c0041t0013g0031 a0001c0047t0071g0051 a0001c0048t0001g0146 a0001c0049t0001g0059 a0001c0051t0001g0068 a0001c0053t0001g0044 a0002c0004t0002g0013 a0002c0004t0002g0127 a0002c0004t0003g0012 a0002c0004t0003g0095 a0002c0004t0006g0136 a0002c0004t0008g0060 a0002c0004t0008g0078 a0002c0004t0012g0035 a0002c0004t0014g0083 a0002c0004t0014g0110 a0002c0004t0024g0057 a0002c0004t0024g0114 a0002c0004t0056g0134 a0002c0050t0045g0132 a0003c0012t0036g0010 a0003c0012t0055g0033 a0003c0013t0021g0100 a0003c0013t0033g0041 a0003c0035t0007g0075 a0003c0042t0003g0066 a0004c0007t0001g0126 a0004c0007t0015g0166 a0004c0043t0037g0058 a0004c0044t0046g0016 a0005c0008t0001g0006 a0005c0008t0001g0029 a0005c0008t0013g0155 a0006c0018t0059g0145 a0006c0020t0020g0037 a0006c0021t0070g0103 a0006c0022t0039g0153 a0007c0056t0021g0061 a0008c0052t0004g0030 a0009c0025t0031g0025 a0010c0040t0004g0024 a0011c0027t0002g0116 a0012c0039t0063g0064 a0015c0023t0008g0122 a0016c0019t0018g0027 a0017c0054t0022g0113 a0018c0055t0048g0150	157	168	0.9345	-21	c.648 others(40): Show c.648+34386_648+34406delGGTGATGATGGTGATAATGAT		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	3/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7566037	GTGATGAT others(14): Show GTGATGATGGCGATGGTGATGA	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG06807.hp1 HG02970.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0068 a0001c0010t0027 a0001c0001t0068 a0001c0010t0027	a0001c0001t0068g0007 a0001c0010t0027g0105 a0001c0001t0068g0007 a0001c0010t0027g0105	2	168	0.0119	-21	c.648 others(40): Show c.648+34418_648+34438delCGATGGTGATGATGATGATGG		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	3/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7724262	ATGGTGAT others(14): Show ATGGTGATGATGGTGGTGGTGG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0029 a0005c0008t0001g0029	1	168	0.0060	-21	c.261 others(38): Show c.2611+385_2611+405delATGATGGTGGTGGTGGTGGTG		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	19/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7733991	TGGCAGGG others(14): Show TGGCAGGGACAGGCAGGGGATA	T T	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0044 a0001c0036t0044	a0001c0036t0044g0022 a0001c0036t0044g0022	1	168	0.0060	-21	c.320 others(38): Show c.3209-261_3209-241delTAGGCAGGGACAGGCAGGGGA		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	24/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SORL1_chr11_121447314_121638763	121586868	TGATTTAA others(14): Show TGATTTAATTAGCGTAGGTGTG	T T	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0103 a0001c0002t0001g0103	1	272	0.0037	-21	c.381 others(38): Show c.3814+541_3814+561delATTTAATTAGCGTAGGTGTGG		SORL1	ENSG00000137642.13	transcript	ENST00000260197.12	protein_coding	27/47					INFO_REALIGN_3_PRIME	chr11	TogoVar
SOS2_chr14_50112130_50236578	50160379	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0039 a0001c0002t0001g0039	1	382	0.0026	-21	c.119 others(38): Show c.1197-314_1197-294delAAAAAAAAAAAAAAAAAAAAA		SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	9/22						chr14	TogoVar
SOWAHB_chr4_76889152_76903144	76900846	AAAAAACA others(14): Show AAAAAACAAAAAAAAAAAAAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG01109.hp1 HG01891.hp1 others(25): Show HG00673.hp2 HG01109.hp1 HG01891.hp1 HG02083.hp2 HG02486.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03471.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03831.hp1 NA18939.hp1 NA18946.hp2 NA18949.hp2 NA18975.hp2 NA18978.hp1 NA18985.hp2 NA18995.hp2 NA19005.hp1 NA19009.hp2 NA19043.hp1 NA19058.hp1 NA19063.hp2 NA19240.hp2 NA20805.hp1	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0003c0003 a0004c0004 others(1): Show a0002c0002 a0003c0003 a0004c0004 a0004c0006	a0002c0002t0003 a0002c0002t0008 a0002c0002t0016 others(4): Show a0002c0002t0003 a0002c0002t0008 a0002c0002t0016 a0003c0003t0004 a0003c0003t0006 a0004c0004t0005 a0004c0006t0013	a0002c0002t0003g0000 a0002c0002t0008g0000 a0002c0002t0016g0000 others(4): Show a0002c0002t0003g0000 a0002c0002t0008g0000 a0002c0002t0016g0000 a0003c0003t0004g0000 a0003c0003t0006g0000 a0004c0004t0005g0000 a0004c0006t0013g0000	28	438	0.0639	-21	c.-30 others(32): Show c.-3018_-2998delGTTTTTTTTTTTTTTGTTTTT		SOWAHB	ENSG00000186212.4	transcript	ENST00000334306.4	protein_coding					2703		chr4	TogoVar
SOX11_chr2_5687384_5706385	5706305	GGGGTAGA others(14): Show GGGGTAGAGGAGCAGGGAGGCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0139 a0001c0001t0139	a0001c0001t0139g0000 a0001c0001t0139g0000	1	434	0.0023	-21	c.12 others(34): Show c.12259_*12279delGGGTAGAGGAGCAGGGAGGCT		SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding					4921		chr2	TogoVar
SOX11_chr2_5687384_5706385	5706316	GCAGGGAG others(14): Show GCAGGGAGGCTGGGGTGGAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0138 a0001c0001t0138	a0001c0001t0138g0000 a0001c0001t0138g0000	1	434	0.0023	-21	c.12 others(34): Show c.12270_*12290delCAGGGAGGCTGGGGTGGAGGA		SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding					4932		chr2	TogoVar
SOX18_chr20_64042582_64054639	64042791	CGGGGTCG others(14): Show CGGGGTCGTGGGGGACGGGACG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 NA21309.hp1 HG00609.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	352	0.0057	-21	c.53 others(32): Show c.5354_*5374delCGTCCCGTCCCCCACGACCCC		SOX18	ENSG00000203883.7	transcript	ENST00000340356.9	protein_coding					4790		chr20	TogoVar
SOX18_chr20_64042582_64054639	64042810	ACGGGGGT others(14): Show ACGGGGGTCGTGGGGGACGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	352	0.0028	-21	c.53 others(32): Show c.5335_*5355delCCCCGTCCCCCACGACCCCCG		SOX18	ENSG00000203883.7	transcript	ENST00000340356.9	protein_coding					4771		chr20	TogoVar
SOX18_chr20_64042582_64054639	64042831	GCGGGGGT others(14): Show GCGGGGGTCGTGGGGGACGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	-21	c.53 others(32): Show c.5314_*5334delTCCCGTCCCCCACGACCCCCG		SOX18	ENSG00000203883.7	transcript	ENST00000340356.9	protein_coding					4750		chr20	TogoVar
SOX18_chr20_64042582_64054639	64042852	ACGGGGGT others(14): Show ACGGGGGTCGTGGGGGACGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02132.hp1 HG03139.hp1 others(7): Show HG02056.hp1 HG02132.hp1 HG03139.hp1 HG03209.hp1 NA18947.hp1 NA18948.hp1 NA18950.hp1 NA18979.hp1 NA18979.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	10	352	0.0284	-21	c.52 others(32): Show c.5293_*5313delCCCCGTCCCCCACGACCCCCG		SOX18	ENSG00000203883.7	transcript	ENST00000340356.9	protein_coding					4729		chr20	TogoVar
SOX18_chr20_64042582_64054639	64042894	GCGGGGGT others(14): Show GCGGGGGTCGTGGGGGACGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp2 NA18948.hp2 NA18978.hp1 others(1): Show HG04184.hp2 NA18948.hp2 NA18978.hp1 NA19002.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0002c0004t0001g0013 a0001c0001t0001g0001 a0001c0001t0001g0002 a0002c0004t0001g0013	4	352	0.0114	-21	c.52 others(32): Show c.5251_*5271delTCCCGTCCCCCACGACCCCCG		SOX18	ENSG00000203883.7	transcript	ENST00000340356.9	protein_coding					4687		chr20	TogoVar
SOX18_chr20_64042582_64054639	64042915	ACGGGGGT others(14): Show ACGGGGGTCGTGGGGGACGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp1 NA19060.hp1 NA18985.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	352	0.0057	-21	c.52 others(32): Show c.5230_*5250delCCCCGTCCCCCACGACCCCCG		SOX18	ENSG00000203883.7	transcript	ENST00000340356.9	protein_coding					4666		chr20	TogoVar
SOX21_chr13_94704622_94717545	94711564	GGCGGCGG others(14): Show GGCGGCGGCAGCGGCGGCGGCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02056.hp2 HG02056.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0000 a0002c0006t0002g0000	1	436	0.0023	-21	c.465 others(28): Show c.465_485delTGCCGCCGCCGCTGCCGCCGC	p.Ala others(13): Show p.Ala156_Ala162del	SOX21	ENSG00000125285.6	transcript	ENST00000376945.4	protein_coding	1/1	981/2924	465/831	155/276			chr13	TogoVar
SOX2_chr3_181706925_181719436	181715433	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG02895.hp1 HG02897.hp2 others(1): Show HG00642.hp1 HG02895.hp1 HG02897.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0000 a0001c0001t0004g0000 a0001c0001t0001g0000 a0001c0001t0004g0000	4	412	0.0097	-21	c.21 others(32): Show c.2120_*2140delTTTTTTTTTTTTTTTTTTTTT		SOX2	ENSG00000181449.4	transcript	ENST00000325404.3	protein_coding					998		chr3	TogoVar
SOX3_chrX_140497985_140510069	140504329	TGCGGCCG others(14): Show TGCGGCCGCGGCAGCGGCGGCG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02071.hp1 HG02071.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0000 a0007c0008t0001g0000	1	339	0.0030	-21	c.711 others(28): Show c.711_731delCGCCGCCGCTGCCGCGGCCGC	p.Ala others(13): Show p.Ala238_Ala244del	SOX3	ENSG00000134595.9	transcript	ENST00000370536.5	protein_coding	1/1	740/2085	711/1341	237/446			chrX	TogoVar
SOX5_chr12_23524504_23954670	23570921	AAAAAAAA others(14): Show AAAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0051 a0001c0002t0051	a0001c0002t0051g0070 a0001c0002t0051g0070	1	212	0.0047	-21	c.134 others(40): Show c.1342+4719_1342+4739delATATATATATATTTTTTTTTT		SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	10/14						chr12	TogoVar
SOX5_chr12_23524504_23954670	23570923	AAAAAAAA others(14): Show AAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02818.hp2 HG02895.hp1 HG02622.hp2 HG02818.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0121 a0001c0001t0003g0153 a0001c0001t0004g0209 a0001c0001t0003g0121 a0001c0001t0003g0153 a0001c0001t0004g0209	3	212	0.0142	-21	c.134 others(40): Show c.1342+4717_1342+4737delATATATATATATATTTTTTTT		SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	10/14						chr12	TogoVar
SOX5_chr12_23524504_23954670	23570925	AAAAAAAT others(14): Show AAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA19088.hp1 NA18944.hp2 NA19088.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0019 a0001c0002t0006g0061 a0001c0002t0006g0019 a0001c0002t0006g0061	2	212	0.0094	-21	c.134 others(40): Show c.1342+4715_1342+4735delATATATATATATATATTTTTT		SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	10/14						chr12	TogoVar
SOX5_chr12_23524504_23954670	23570927	AAAAATAT others(14): Show AAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0050 a0001c0002t0050	a0001c0002t0050g0212 a0001c0002t0050g0212	1	212	0.0047	-21	c.134 others(40): Show c.1342+4713_1342+4733delATATATATATATATATATTTT		SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	10/14						chr12	TogoVar
SOX5_chr12_23524504_23954670	23570929	AAATATAT others(14): Show AAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02723.hp2 HG02886.hp2 others(1): Show HG01106.hp2 HG02723.hp2 HG02886.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0077 a0001c0001t0093 others(1): Show a0001c0001t0013 a0001c0001t0077 a0001c0001t0093 a0001c0001t0101	a0001c0001t0013g0177 a0001c0001t0077g0052 a0001c0001t0093g0192 others(1): Show a0001c0001t0013g0177 a0001c0001t0077g0052 a0001c0001t0093g0192 a0001c0001t0101g0145	4	212	0.0189	-21	c.134 others(40): Show c.1342+4711_1342+4731delATATATATATATATATATATT		SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	10/14						chr12	TogoVar
SOX5_chr12_23524504_23954670	23570931	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01261.hp1 HG02976.hp2 others(6): Show HG00735.hp1 HG01261.hp1 HG02976.hp2 HG03540.hp1 NA18612.hp1 NA18612.hp2 NA19063.hp2 NA19088.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0026 a0001c0001t0031 others(6): Show a0001c0001t0015 a0001c0001t0026 a0001c0001t0031 a0001c0001t0045 a0001c0001t0073 a0001c0001t0089 a0001c0001t0098 a0001c0001t0103 a0001c0001t0106	a0001c0001t0015g0091 a0001c0001t0026g0012 a0001c0001t0031g0031 others(6): Show a0001c0001t0015g0091 a0001c0001t0026g0012 a0001c0001t0031g0031 a0001c0001t0045g0103 a0001c0001t0073g0189 a0001c0001t0089g0202 a0001c0001t0098g0138 a0001c0001t0103g0064 a0001c0001t0106g0011	9	212	0.0425	-21	c.134 others(40): Show c.1342+4709_1342+4729delATATATATATATATATATATA		SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	10/14						chr12	TogoVar
SOX5_chr12_23524504_23954670	23837230	ATATATTT others(14): Show ATATATTTATATAATATATATT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01243.hp2 HG01496.hp1 others(2): Show HG00597.hp1 HG01243.hp2 HG01496.hp1 HG02040.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0009 a0001c0001t0017 others(2): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0017 a0001c0002t0005 a0001c0002t0006	a0001c0001t0001g0150 a0001c0001t0009g0053 a0001c0001t0017g0151 others(2): Show a0001c0001t0001g0150 a0001c0001t0009g0053 a0001c0001t0017g0151 a0001c0002t0005g0125 a0001c0002t0006g0126	5	212	0.0236	-21	c.481 others(38): Show c.481+8732_481+8752delAATATATATTATATAAATATA		SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14						chr12	TogoVar
SOX6_chr11_15961449_16361546	16132394	GAAAGAAA others(14): Show GAAAGAAAAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp2 HG02083.hp1 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0076 a0001c0002t0001g0150 a0001c0001t0002g0076 a0001c0002t0001g0150	2	218	0.0092	-21	c.778 others(40): Show c.778-20492_778-20472delTTCTTTCTTTCTTTTTTCTTT		SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15						chr11	TogoVar
SOX6_chr11_15961449_16361546	16132398	GAAAAAAG others(14): Show GAAAAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0082	1	218	0.0046	-21	c.778 others(40): Show c.778-20496_778-20476delTTCTTTCTTTCTTTCTTTTTT		SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15						chr11	TogoVar
SOX6_chr11_15961449_16361546	16146908	CTGTAAAC others(14): Show CTGTAAACTAGTTCGACCATTG	C C	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0082	1	218	0.0046	-21	c.778 others(40): Show c.778-35006_778-34986delCAATGGTCGAACTAGTTTACA		SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15						chr11	TogoVar
SOX6_chr11_15961449_16361546	16198025	CTGTTGTT others(14): Show CTGTTGTTGTTGTTGTTGTTGT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00597.hp1 others(140): Show HG00408.hp1 HG00544.hp1 HG00597.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01256.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01891.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02155.hp2 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02523.hp1 HG02523.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02717.hp1 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04115.hp2 HG04228.hp2 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18984.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19054.hp2 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19066.hp1 NA19066.hp2 NA19079.hp1 NA19079.hp2 NA19085.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(37): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0012 a0001c0001t0016 a0001c0001t0023 a0001c0001t0024 a0001c0001t0030 a0001c0001t0041 a0001c0001t0042 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0008 a0001c0002t0009 a0001c0002t0010 a0001c0002t0011 a0001c0002t0017 a0001c0002t0019 a0001c0002t0021 a0001c0002t0022 a0001c0002t0025 a0001c0002t0028 a0001c0002t0032 a0001c0002t0033 a0001c0002t0034 a0001c0002t0036 a0001c0002t0037 a0001c0002t0038 a0001c0002t0039 a0001c0002t0040 a0001c0002t0043 a0001c0002t0045 a0001c0003t0002 a0001c0003t0010 a0001c0006t0001	a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0002g0051 others(140): Show a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0073 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0105 a0001c0001t0002g0122 a0001c0001t0002g0131 a0001c0001t0002g0144 a0001c0001t0002g0148 a0001c0001t0002g0151 a0001c0001t0002g0172 a0001c0001t0002g0175 a0001c0001t0002g0186 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0003g0002 a0001c0001t0003g0121 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0166 a0001c0001t0004g0084 a0001c0001t0004g0111 a0001c0001t0004g0112 a0001c0001t0005g0034 a0001c0001t0005g0086 a0001c0001t0005g0091 a0001c0001t0005g0098 a0001c0001t0005g0106 a0001c0001t0005g0113 a0001c0001t0005g0169 a0001c0001t0005g0185 a0001c0001t0008g0020 a0001c0001t0008g0085 a0001c0001t0008g0107 a0001c0001t0012g0048 a0001c0001t0016g0064 a0001c0001t0023g0093 a0001c0001t0024g0104 a0001c0001t0030g0205 a0001c0001t0041g0037 a0001c0001t0042g0215 a0001c0002t0001g0008 a0001c0002t0001g0012 a0001c0002t0001g0015 a0001c0002t0001g0018 a0001c0002t0001g0024 a0001c0002t0001g0049 a0001c0002t0001g0054 a0001c0002t0001g0060 a0001c0002t0001g0062 a0001c0002t0001g0077 a0001c0002t0001g0090 a0001c0002t0001g0100 a0001c0002t0001g0115 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0141 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0150 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0170 a0001c0002t0001g0195 a0001c0002t0001g0211 a0001c0002t0003g0003 a0001c0002t0003g0040 a0001c0002t0003g0041 a0001c0002t0003g0055 a0001c0002t0003g0056 a0001c0002t0003g0057 a0001c0002t0003g0059 a0001c0002t0003g0063 a0001c0002t0003g0066 a0001c0002t0003g0080 a0001c0002t0003g0116 a0001c0002t0003g0132 a0001c0002t0003g0133 a0001c0002t0003g0134 a0001c0002t0003g0143 a0001c0002t0003g0191 a0001c0002t0003g0213 a0001c0002t0004g0013 a0001c0002t0004g0142 a0001c0002t0004g0189 a0001c0002t0004g0190 a0001c0002t0006g0136 a0001c0002t0008g0069 a0001c0002t0009g0030 a0001c0002t0010g0152 a0001c0002t0010g0155 a0001c0002t0011g0140 a0001c0002t0011g0161 a0001c0002t0011g0188 a0001c0002t0017g0053 a0001c0002t0019g0001 a0001c0002t0021g0007 a0001c0002t0022g0162 a0001c0002t0025g0075 a0001c0002t0028g0117 a0001c0002t0032g0009 a0001c0002t0033g0120 a0001c0002t0034g0072 a0001c0002t0036g0058 a0001c0002t0037g0050 a0001c0002t0038g0171 a0001c0002t0039g0017 a0001c0002t0040g0135 a0001c0002t0043g0216 a0001c0002t0045g0214 a0001c0003t0002g0103 a0001c0003t0002g0108 a0001c0003t0002g0109 a0001c0003t0002g0119 a0001c0003t0010g0114 a0001c0006t0001g0110	143	218	0.6560	-21	c.536 others(40): Show c.536-11091_536-11071delACAACAACAACAACAACAACA		SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	4/15						chr11	TogoVar
SOX6_chr11_15961449_16361546	16226314	GTGTTTTT others(14): Show GTGTTTTTTTTGTTTTTGTTTT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00544.hp2 others(102): Show HG00408.hp1 HG00408.hp2 HG00544.hp2 HG00597.hp2 HG00639.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01433.hp1 HG01891.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02083.hp1 HG02129.hp1 HG02155.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp2 HG02523.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp2 HG03239.hp1 HG03516.hp1 HG03579.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18941.hp2 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18960.hp2 NA18964.hp1 NA18968.hp1 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18974.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19009.hp1 NA19054.hp1 NA19058.hp1 NA19060.hp2 NA19062.hp2 NA19066.hp1 NA19079.hp2 NA19085.hp2 NA19090.hp1 NA19091.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0015 a0001c0001t0018 a0001c0001t0026 a0001c0001t0027 a0001c0001t0031 a0001c0001t0044 a0001c0001t0046 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0010 a0001c0002t0011 a0001c0002t0017 a0001c0002t0019 a0001c0002t0021 a0001c0002t0022 a0001c0002t0032 a0001c0002t0036 a0001c0002t0037 a0001c0002t0040 a0001c0002t0043 a0001c0002t0045 a0001c0004t0003 a0001c0004t0006 a0002c0005t0016	a0001c0001t0001g0043 a0001c0001t0001g0176 a0001c0001t0001g0204 others(102): Show a0001c0001t0001g0043 a0001c0001t0001g0176 a0001c0001t0001g0204 a0001c0001t0002g0131 a0001c0001t0002g0144 a0001c0001t0002g0151 a0001c0001t0002g0208 a0001c0001t0003g0002 a0001c0001t0003g0005 a0001c0001t0003g0149 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0004g0011 a0001c0001t0004g0014 a0001c0001t0004g0118 a0001c0001t0004g0127 a0001c0001t0004g0137 a0001c0001t0004g0183 a0001c0001t0004g0184 a0001c0001t0004g0193 a0001c0001t0004g0196 a0001c0001t0004g0197 a0001c0001t0004g0199 a0001c0001t0004g0202 a0001c0001t0005g0034 a0001c0001t0005g0042 a0001c0001t0006g0126 a0001c0001t0006g0128 a0001c0001t0006g0179 a0001c0001t0006g0192 a0001c0001t0006g0194 a0001c0001t0006g0198 a0001c0001t0006g0203 a0001c0001t0007g0129 a0001c0001t0007g0156 a0001c0001t0007g0180 a0001c0001t0007g0182 a0001c0001t0007g0206 a0001c0001t0009g0047 a0001c0001t0015g0045 a0001c0001t0015g0046 a0001c0001t0018g0004 a0001c0001t0018g0130 a0001c0001t0026g0207 a0001c0001t0027g0181 a0001c0001t0031g0044 a0001c0001t0044g0218 a0001c0001t0046g0217 a0001c0002t0001g0008 a0001c0002t0001g0012 a0001c0002t0001g0015 a0001c0002t0001g0024 a0001c0002t0001g0049 a0001c0002t0001g0054 a0001c0002t0001g0060 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0141 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0150 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0195 a0001c0002t0001g0211 a0001c0002t0003g0055 a0001c0002t0003g0056 a0001c0002t0003g0057 a0001c0002t0003g0059 a0001c0002t0003g0132 a0001c0002t0003g0133 a0001c0002t0003g0134 a0001c0002t0003g0143 a0001c0002t0003g0191 a0001c0002t0004g0013 a0001c0002t0004g0142 a0001c0002t0004g0189 a0001c0002t0004g0190 a0001c0002t0006g0136 a0001c0002t0010g0152 a0001c0002t0010g0155 a0001c0002t0011g0140 a0001c0002t0011g0161 a0001c0002t0011g0188 a0001c0002t0017g0053 a0001c0002t0019g0001 a0001c0002t0021g0007 a0001c0002t0022g0162 a0001c0002t0032g0009 a0001c0002t0036g0058 a0001c0002t0037g0050 a0001c0002t0040g0135 a0001c0002t0043g0216 a0001c0002t0045g0214 a0001c0004t0003g0200 a0001c0004t0006g0201 a0002c0005t0016g0187	105	218	0.4817	-21	c.535 others(38): Show c.535+8247_535+8267delAAAACAAAAACAAAAAAAACA		SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	4/15						chr11	TogoVar
SOX8_chr16_976770_991979	977430	GCCCAGCC others(14): Show GCCCAGCCTGTAGTCACTCTGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0006 a0006	a0006c0020 a0006c0020	a0006c0020t0001 a0006c0020t0001	a0006c0020t0001g0001 a0006c0020t0001g0001	1	434	0.0023	-21	c.-44 others(32): Show c.-4492_-4472delCCCAGCCTGTAGTCACTCTGT		SOX8	ENSG00000005513.11	transcript	ENST00000293894.4	protein_coding					4339		chr16	TogoVar
SOX9_chr17_72116020_72131416	72123958	ACAGCAGC others(14): Show ACAGCAGCCGGCGGCACCCCCG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01981.hp2 HG02004.hp1 HG01981.hp2 HG02004.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0002 a0002c0007t0001g0002	2	402	0.0050	-21	c.111 others(30): Show c.1110_1130delGGCGGCACCCCCGCAGCAGCC	p.Ala others(13): Show p.Ala371_Pro377del	SOX9	ENSG00000125398.8	transcript	ENST00000245479.3	protein_coding	3/3	1482/3931	1110/1530	370/509		INFO_REALIGN_3_PRIME	chr17	TogoVar
SP100_chr2_230411201_230550606	230460592	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00558.hp1 others(23): Show HG00099.hp2 HG00140.hp2 HG00558.hp1 HG00735.hp2 HG01070.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01255.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01891.hp1 HG01978.hp1 HG02129.hp2 HG03239.hp1 HG03491.hp1 HG03669.hp2 HG04228.hp2 HG06807.hp2 NA18939.hp1 NA18948.hp1 NA18977.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0002c0005 others(3): Show a0001c0001 a0002c0002 a0002c0005 a0003c0004 a0004c0006 a0004c0015	a0001c0001t0002 a0001c0001t0004 a0001c0001t0015 others(6): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0015 a0002c0002t0009 a0002c0005t0001 a0003c0004t0002 a0003c0004t0003 a0004c0006t0004 a0004c0015t0004	a0001c0001t0002g0147 a0001c0001t0004g0097 a0001c0001t0015g0148 others(23): Show a0001c0001t0002g0147 a0001c0001t0004g0097 a0001c0001t0015g0148 a0001c0001t0015g0206 a0002c0002t0009g0245 a0002c0005t0001g0154 a0003c0004t0002g0112 a0003c0004t0002g0116 a0003c0004t0002g0133 a0003c0004t0002g0150 a0003c0004t0002g0151 a0003c0004t0002g0162 a0003c0004t0002g0263 a0003c0004t0003g0061 a0003c0004t0003g0080 a0003c0004t0003g0102 a0003c0004t0003g0111 a0003c0004t0003g0113 a0003c0004t0003g0115 a0003c0004t0003g0132 a0003c0004t0003g0136 a0003c0004t0003g0141 a0003c0004t0003g0145 a0003c0004t0003g0161 a0004c0006t0004g0152 a0004c0015t0004g0153	26	290	0.0897	-21	c.821 others(36): Show c.821-648_821-628delTTTTTTTTTTTTTTTTTTTTT		SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	8/28					INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230510473	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00408.hp1 others(38): Show HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00558.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01167.hp2 HG01257.hp2 HG01261.hp1 HG01433.hp1 HG01496.hp1 HG01981.hp1 HG01993.hp1 HG02071.hp1 HG02129.hp1 HG02155.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02735.hp2 HG03017.hp2 HG03579.hp2 HG03927.hp1 HG04199.hp1 HG04228.hp1 NA18612.hp1 NA18939.hp1 NA18948.hp2 NA18954.hp2 NA18970.hp1 NA18984.hp1 NA19002.hp1 NA19010.hp2 NA19055.hp1 NA19062.hp2 NA19067.hp1 NA19079.hp1 NA19082.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0009 others(4): Show a0001c0001 a0001c0003 a0001c0009 a0001c0017 a0001c0019 a0002c0005 a0003c0004	a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 others(11): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0003t0002 a0001c0003t0015 a0001c0003t0016 a0001c0009t0002 a0001c0017t0002 a0001c0019t0016 a0002c0005t0001 a0003c0004t0002	a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0025 others(38): Show a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0025 a0001c0001t0002g0066 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0170 a0001c0001t0002g0196 a0001c0001t0002g0200 a0001c0001t0002g0269 a0001c0001t0002g0279 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0005g0134 a0001c0001t0005g0239 a0001c0001t0010g0118 a0001c0001t0010g0168 a0001c0001t0010g0244 a0001c0001t0015g0206 a0001c0001t0015g0228 a0001c0001t0016g0091 a0001c0001t0019g0064 a0001c0003t0002g0012 a0001c0003t0002g0108 a0001c0003t0002g0276 a0001c0003t0002g0277 a0001c0003t0015g0217 a0001c0003t0016g0169 a0001c0009t0002g0081 a0001c0017t0002g0017 a0001c0019t0016g0034 a0002c0005t0001g0067 a0002c0005t0001g0074 a0002c0005t0001g0075 a0002c0005t0001g0079 a0002c0005t0001g0154 a0002c0005t0001g0163 a0002c0005t0001g0186 a0002c0005t0001g0219 a0003c0004t0002g0151 a0003c0004t0002g0260	41	290	0.1414	-21	c.205 others(38): Show c.2053-613_2053-593delTTTTTTTTTTTTTTTTTTTTT		SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	23/28					INFO_REALIGN_3_PRIME	chr2	TogoVar
SP140L_chr2_230322193_230408732	230349406	ATTTGGAA others(14): Show ATTTGGAATTTTGATAGGAATC	A A	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0219 a0003c0003t0001g0219	1	336	0.0030	-21	c.108 others(38): Show c.108-8398_108-8378delTTTGGAATTTTGATAGGAATC		SP140L	ENSG00000185404.17	transcript	ENST00000415673.7	protein_coding	2/18						chr2	TogoVar
SP4_chr7_21423083_21519822	21440868	ACAACAAC others(14): Show ACAACAACAACAACAACAACAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(338): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0009 others(4): Show a0001c0001 a0001c0002 a0001c0009 a0002c0003 a0003c0004 a0004c0006 a0005c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(57): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0053 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0060 a0001c0001t0062 a0001c0002t0004 a0001c0009t0010 a0002c0003t0005 a0003c0004t0003 a0003c0004t0005 a0003c0004t0020 a0004c0006t0006 a0005c0010t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(325): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0114 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0188 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0240 a0001c0001t0001g0297 a0001c0001t0001g0301 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0349 a0001c0001t0001g0405 a0001c0001t0003g0004 a0001c0001t0003g0015 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0043 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0052 a0001c0001t0003g0055 a0001c0001t0003g0059 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0073 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0109 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0117 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0003g0266 a0001c0001t0003g0296 a0001c0001t0004g0025 a0001c0001t0004g0028 a0001c0001t0004g0033 a0001c0001t0004g0038 a0001c0001t0004g0041 a0001c0001t0004g0044 a0001c0001t0004g0046 a0001c0001t0004g0092 a0001c0001t0004g0094 a0001c0001t0004g0097 a0001c0001t0004g0098 a0001c0001t0004g0099 a0001c0001t0004g0102 a0001c0001t0004g0103 a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0004g0115 a0001c0001t0004g0132 a0001c0001t0004g0141 a0001c0001t0004g0142 a0001c0001t0004g0143 a0001c0001t0004g0144 a0001c0001t0004g0220 a0001c0001t0004g0323 a0001c0001t0004g0409 a0001c0001t0005g0001 a0001c0001t0005g0051 a0001c0001t0005g0053 a0001c0001t0005g0056 a0001c0001t0005g0057 a0001c0001t0005g0058 a0001c0001t0005g0061 a0001c0001t0005g0062 a0001c0001t0005g0063 a0001c0001t0005g0064 a0001c0001t0005g0065 a0001c0001t0005g0066 a0001c0001t0005g0067 a0001c0001t0005g0068 a0001c0001t0005g0074 a0001c0001t0005g0075 a0001c0001t0005g0076 a0001c0001t0005g0083 a0001c0001t0005g0118 a0001c0001t0005g0119 a0001c0001t0005g0120 a0001c0001t0005g0211 a0001c0001t0005g0315 a0001c0001t0006g0012 a0001c0001t0006g0013 a0001c0001t0006g0032 a0001c0001t0006g0034 a0001c0001t0006g0036 a0001c0001t0006g0146 a0001c0001t0006g0147 a0001c0001t0006g0148 a0001c0001t0006g0164 a0001c0001t0006g0179 a0001c0001t0006g0182 a0001c0001t0006g0185 a0001c0001t0006g0186 a0001c0001t0006g0187 a0001c0001t0006g0189 a0001c0001t0006g0190 a0001c0001t0006g0191 a0001c0001t0006g0193 a0001c0001t0006g0194 a0001c0001t0006g0195 a0001c0001t0006g0202 a0001c0001t0006g0203 a0001c0001t0006g0348 a0001c0001t0006g0408 a0001c0001t0007g0006 a0001c0001t0007g0126 a0001c0001t0007g0127 a0001c0001t0007g0136 a0001c0001t0007g0267 a0001c0001t0007g0319 a0001c0001t0007g0320 a0001c0001t0007g0321 a0001c0001t0007g0324 a0001c0001t0007g0325 a0001c0001t0007g0326 a0001c0001t0007g0327 a0001c0001t0007g0328 a0001c0001t0007g0333 a0001c0001t0007g0334 a0001c0001t0007g0335 a0001c0001t0007g0337 a0001c0001t0007g0338 a0001c0001t0007g0342 a0001c0001t0008g0014 a0001c0001t0008g0128 a0001c0001t0008g0288 a0001c0001t0008g0300 a0001c0001t0008g0305 a0001c0001t0008g0306 a0001c0001t0008g0307 a0001c0001t0008g0308 a0001c0001t0008g0309 a0001c0001t0008g0310 a0001c0001t0008g0311 a0001c0001t0008g0313 a0001c0001t0008g0314 a0001c0001t0009g0037 a0001c0001t0009g0129 a0001c0001t0009g0207 a0001c0001t0009g0208 a0001c0001t0009g0218 a0001c0001t0009g0219 a0001c0001t0009g0221 a0001c0001t0009g0223 a0001c0001t0009g0224 a0001c0001t0009g0225 a0001c0001t0009g0227 a0001c0001t0009g0228 a0001c0001t0009g0238 a0001c0001t0009g0239 a0001c0001t0009g0340 a0001c0001t0010g0255 a0001c0001t0010g0268 a0001c0001t0010g0269 a0001c0001t0010g0270 a0001c0001t0010g0273 a0001c0001t0010g0274 a0001c0001t0010g0275 a0001c0001t0010g0276 a0001c0001t0010g0280 a0001c0001t0010g0281 a0001c0001t0011g0217 a0001c0001t0011g0229 a0001c0001t0011g0230 a0001c0001t0011g0231 a0001c0001t0011g0232 a0001c0001t0011g0233 a0001c0001t0011g0234 a0001c0001t0011g0235 a0001c0001t0011g0236 a0001c0001t0011g0237 a0001c0001t0013g0003 a0001c0001t0013g0199 a0001c0001t0013g0206 a0001c0001t0013g0316 a0001c0001t0013g0317 a0001c0001t0013g0318 a0001c0001t0015g0019 a0001c0001t0015g0137 a0001c0001t0015g0138 a0001c0001t0015g0302 a0001c0001t0015g0303 a0001c0001t0015g0304 a0001c0001t0016g0096 a0001c0001t0016g0100 a0001c0001t0016g0209 a0001c0001t0016g0215 a0001c0001t0016g0216 a0001c0001t0016g0264 a0001c0001t0017g0005 a0001c0001t0017g0122 a0001c0001t0017g0124 a0001c0001t0017g0125 a0001c0001t0017g0329 a0001c0001t0018g0241 a0001c0001t0018g0242 a0001c0001t0018g0243 a0001c0001t0018g0244 a0001c0001t0019g0123 a0001c0001t0019g0249 a0001c0001t0019g0250 a0001c0001t0019g0330 a0001c0001t0020g0082 a0001c0001t0020g0091 a0001c0001t0020g0116 a0001c0001t0021g0104 a0001c0001t0021g0105 a0001c0001t0021g0106 a0001c0001t0022g0040 a0001c0001t0022g0047 a0001c0001t0022g0212 a0001c0001t0023g0246 a0001c0001t0023g0247 a0001c0001t0023g0332 a0001c0001t0024g0121 a0001c0001t0024g0343 a0001c0001t0024g0410 a0001c0001t0026g0312 a0001c0001t0027g0042 a0001c0001t0027g0140 a0001c0001t0028g0277 a0001c0001t0028g0278 a0001c0001t0029g0093 a0001c0001t0029g0139 a0001c0001t0030g0165 a0001c0001t0030g0200 a0001c0001t0031g0021 a0001c0001t0031g0022 a0001c0001t0033g0145 a0001c0001t0034g0130 a0001c0001t0035g0226 a0001c0001t0036g0157 a0001c0001t0037g0222 a0001c0001t0038g0095 a0001c0001t0039g0279 a0001c0001t0040g0339 a0001c0001t0041g0081 a0001c0001t0042g0401 a0001c0001t0043g0336 a0001c0001t0044g0151 a0001c0001t0045g0035 a0001c0001t0046g0192 a0001c0001t0047g0101 a0001c0001t0048g0170 a0001c0001t0049g0248 a0001c0001t0050g0131 a0001c0001t0051g0341 a0001c0001t0053g0020 a0001c0001t0055g0331 a0001c0001t0056g0271 a0001c0001t0057g0184 a0001c0001t0060g0110 a0001c0001t0062g0400 a0001c0002t0004g0023 a0001c0002t0004g0024 a0001c0002t0004g0026 a0001c0002t0004g0027 a0001c0002t0004g0029 a0001c0002t0004g0030 a0001c0002t0004g0031 a0001c0002t0004g0204 a0001c0002t0004g0205 a0001c0009t0010g0272 a0002c0003t0005g0001 a0002c0003t0005g0045 a0002c0003t0005g0054 a0002c0003t0005g0060 a0002c0003t0005g0072 a0002c0003t0005g0077 a0002c0003t0005g0078 a0003c0004t0003g0256 a0003c0004t0003g0257 a0003c0004t0003g0258 a0003c0004t0003g0260 a0003c0004t0005g0259 a0003c0004t0020g0265 a0004c0006t0006g0011 a0004c0006t0006g0183 a0005c0010t0001g0160	341	426	0.8005	-21	c.167 others(42): Show c.1678+10028_1678+10048delACAACAACAACAACAACAGCA		SP4	ENSG00000105866.15	transcript	ENST00000222584.8	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr7	TogoVar
SP8_chr7_20777279_20791886	20790841	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 NA18963.hp2 NA18986.hp2 others(2): Show HG02895.hp1 NA18963.hp2 NA18986.hp2 NA18994.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0035 a0001c0001t0001g0001 a0001c0001t0001g0035	5	416	0.0120	-21	c.-40 others(32): Show c.-4064_-4044delTTTTTTTTTTTTTTTTTTTTT		SP8	ENSG00000164651.18	transcript	ENST00000418710.3	protein_coding					3956		chr7	TogoVar
SP8_chr7_20777279_20791886	20790861	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	416	0.0024	-21	c.-40 others(32): Show c.-4084_-4064delCTTTTTTTTTTTTTTTTTTTT		SP8	ENSG00000164651.18	transcript	ENST00000418710.3	protein_coding					3976		chr7	TogoVar
SP8_chr7_20777279_20791886	20790863	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00544.hp1 others(51): Show HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00621.hp2 HG00639.hp1 HG01070.hp1 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG01993.hp1 HG02004.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02132.hp1 HG02135.hp2 HG02738.hp1 HG03490.hp2 HG03654.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04199.hp1 HG04204.hp2 NA18940.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18947.hp1 NA18950.hp2 NA18952.hp2 NA18961.hp2 NA18963.hp1 NA18964.hp1 NA18971.hp1 NA18973.hp2 NA18977.hp1 NA18979.hp1 NA18982.hp2 NA18992.hp2 NA18993.hp2 NA18995.hp2 NA19002.hp1 NA19004.hp2 NA19007.hp1 NA19060.hp2 NA19067.hp2 NA19074.hp1 NA19081.hp1 NA19081.hp2 NA19088.hp2 NA19091.hp1 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 others(4): Show a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0016 a0001c0002t0025 a0001c0005t0002	a0001c0002t0002g0002 a0001c0002t0004g0005 a0001c0002t0005g0006 others(4): Show a0001c0002t0002g0002 a0001c0002t0004g0005 a0001c0002t0005g0006 a0001c0002t0006g0007 a0001c0002t0016g0020 a0001c0002t0025g0037 a0001c0005t0002g0042	54	416	0.1298	-21	c.-40 others(32): Show c.-4086_-4066delCTCTTTTTTTTTTTTTTTTTT		SP8	ENSG00000164651.18	transcript	ENST00000418710.3	protein_coding					3978		chr7	TogoVar
SPACA4_chr19_48601742_48612714	48602705	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01346.hp1 HG02572.hp2 HG01261.hp1 HG01346.hp1 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	392	0.0077	-21	c.-42 others(32): Show c.-4273_-4253delTATATATATATATATATATAT		SPACA4	ENSG00000177202.3	transcript	ENST00000321762.3	protein_coding					4036		chr19	TogoVar
SPACA7_chr13_112371355_112439689	112383115	GAAAAGAA others(14): Show GAAAAGAAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	391	0.0026	-21	c.94+ others(36): Show c.94+6637_94+6657delAAAAGAAAAGAAAGAAAGAAA		SPACA7	ENSG00000153498.12	transcript	ENST00000283550.8	protein_coding	1/6						chr13	TogoVar
SPACA7_chr13_112371355_112439689	112383116	AAAAGAAA others(14): Show AAAAGAAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp2 HG01069.hp1 others(26): Show HG00597.hp2 HG00609.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01975.hp2 HG02145.hp2 HG02698.hp2 HG02723.hp2 HG02809.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp2 HG03516.hp2 NA18522.hp1 NA18955.hp1 NA18965.hp2 NA18995.hp2 NA19001.hp2 NA19005.hp2 NA19006.hp1 NA19068.hp2 NA19074.hp1 NA19083.hp1 NA19084.hp2 NA19085.hp2 NA20129.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0103 others(26): Show a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0147 a0001c0001t0001g0257 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0343 a0001c0001t0001g0344 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0260	29	391	0.0742	-21	c.94+ others(36): Show c.94+6645_94+6665delAGAAAGAAAGAAAGAAAGAAA		SPACA7	ENSG00000153498.12	transcript	ENST00000283550.8	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr13	TogoVar
SPAG16_chr2_213279464_214415501	213342327	GTGTATAT others(14): Show GTGTATATATATATTACATATA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01496.hp1 HG02109.hp2 others(15): Show HG00735.hp2 HG01496.hp1 HG02109.hp2 HG02615.hp2 HG02647.hp2 HG02895.hp2 HG02922.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03579.hp1 HG03831.hp1 HG06807.hp2 NA18993.hp1 NA19087.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0003c0003t0002	a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0027 others(15): Show a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0048 a0001c0001t0002g0044 a0002c0002t0001g0051 a0002c0002t0001g0075 a0002c0002t0002g0052 a0003c0003t0001g0028 a0003c0003t0001g0029 a0003c0003t0001g0041 a0003c0003t0001g0050 a0003c0003t0002g0042	18	86	0.2093	-21	c.644 others(38): Show c.644+2080_644+2100delGTATATATATATTACATATAT		SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	6/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213859178	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	86	0.0116	-21	c.107 others(40): Show c.1071-3289_1071-3269delAAAAAAAAAAAAAAAAAAAAA		SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214126039	CTTCCTTC others(14): Show CTTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA18522.hp2 NA19086.hp2 HG01496.hp2 NA18522.hp2 NA19086.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0040 a0001c0001t0002g0009 a0002c0002t0001g0053 a0001c0001t0001g0040 a0001c0001t0002g0009 a0002c0002t0001g0053	3	86	0.0349	-21	c.159 others(42): Show c.1593+17781_1593+17801delCCTTCCTTCCTTCCTTCCTTT		SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	14/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG1_chr8_100153587_100246904	100206017	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00408.hp1 others(157): Show HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00735.hp1 HG00741.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01358.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02080.hp1 HG02109.hp1 HG02129.hp1 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04228.hp1 NA18612.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18981.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18988.hp2 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19007.hp2 NA19009.hp1 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19058.hp2 NA19063.hp1 NA19065.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19076.hp2 NA19077.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp2 NA20129.hp1 NA20300.hp1 NA20805.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0006 a0007 a0011	a0001c0002 a0001c0003 a0001c0008 others(11): Show a0001c0002 a0001c0003 a0001c0008 a0001c0012 a0001c0015 a0001c0016 a0001c0021 a0002c0001 a0002c0005 a0002c0007 a0005c0010 a0006c0011 a0007c0013 a0011c0022	a0001c0002t0001 a0001c0002t0007 a0001c0003t0001 others(16): Show a0001c0002t0001 a0001c0002t0007 a0001c0003t0001 a0001c0008t0002 a0001c0008t0008 a0001c0012t0001 a0001c0012t0002 a0001c0015t0001 a0001c0016t0001 a0001c0021t0001 a0002c0001t0001 a0002c0005t0001 a0002c0005t0002 a0002c0007t0001 a0002c0007t0002 a0005c0010t0001 a0006c0011t0002 a0007c0013t0001 a0011c0022t0001	a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0083 others(153): Show a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0178 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0198 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0346 a0001c0002t0001g0347 a0001c0002t0001g0349 a0001c0002t0001g0351 a0001c0002t0001g0352 a0001c0002t0001g0353 a0001c0002t0007g0187 a0001c0003t0001g0357 a0001c0003t0001g0358 a0001c0003t0001g0359 a0001c0008t0002g0004 a0001c0008t0002g0090 a0001c0008t0002g0091 a0001c0008t0002g0092 a0001c0008t0002g0217 a0001c0008t0002g0218 a0001c0008t0002g0219 a0001c0008t0002g0241 a0001c0008t0002g0243 a0001c0008t0002g0244 a0001c0008t0002g0245 a0001c0008t0002g0247 a0001c0008t0008g0246 a0001c0012t0001g0174 a0001c0012t0002g0116 a0001c0015t0001g0224 a0001c0015t0001g0228 a0001c0016t0001g0348 a0001c0016t0001g0350 a0001c0021t0001g0157 a0002c0001t0001g0221 a0002c0005t0001g0229 a0002c0005t0001g0236 a0002c0005t0001g0237 a0002c0005t0002g0089 a0002c0005t0002g0220 a0002c0005t0002g0223 a0002c0005t0002g0225 a0002c0005t0002g0226 a0002c0005t0002g0227 a0002c0005t0002g0231 a0002c0005t0002g0233 a0002c0005t0002g0234 a0002c0005t0002g0235 a0002c0005t0002g0238 a0002c0005t0002g0239 a0002c0005t0002g0240 a0002c0005t0002g0242 a0002c0005t0002g0248 a0002c0005t0002g0354 a0002c0007t0001g0106 a0002c0007t0001g0135 a0002c0007t0001g0150 a0002c0007t0001g0190 a0002c0007t0001g0191 a0002c0007t0001g0192 a0002c0007t0001g0193 a0002c0007t0001g0194 a0002c0007t0001g0195 a0002c0007t0001g0196 a0002c0007t0001g0197 a0002c0007t0001g0202 a0002c0007t0001g0206 a0002c0007t0002g0179 a0002c0007t0002g0180 a0005c0010t0001g0141 a0005c0010t0001g0145 a0005c0010t0001g0146 a0005c0010t0001g0156 a0005c0010t0001g0199 a0005c0010t0001g0212 a0006c0011t0002g0003 a0006c0011t0002g0252 a0007c0013t0001g0101 a0007c0013t0001g0134 a0011c0022t0001g0177	160	366	0.4372	-21	c.109 others(40): Show c.1097-7055_1097-7035delAAAAAAAAAAAAAAAAAAAAA		SPAG1	ENSG00000104450.13	transcript	ENST00000388798.7	protein_coding	10/18					INFO_REALIGN_3_PRIME	chr8	TogoVar
SPARCL1_chr4_87468335_87534376	87486888	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0068 a0002c0001t0001g0068	1	390	0.0026	-21	c.153 others(40): Show c.1531+3364_1531+3384delAAAAAAAAAAAAAAAAAAAAA		SPARCL1	ENSG00000152583.13	transcript	ENST00000282470.11	protein_coding	7/10						chr4	TogoVar

Search by Variant

Search

Search Results (Total: 6287 hits)