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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
GRHL3_chr1_24314357_24360318	24345114	T T	TACACCTG others(42): Show TACACCTGTGCCCCTCCACACCTGTGCCCCCTCCACACCTGTGCACCTCC	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18998.hp2 NA18963.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0142 a0001c0001t0001g0132 a0001c0001t0001g0142	2	372	0.0054	49	c.145 others(66): Show c.1454+215_1454+216insCACACCTGTGCACCTCCACACCTGTGCC CCTCCACACCTGTGCCCCCTC	GRHL3	ENSG00000158055.17	transcript	ENST00000361548.9	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
GRIA2_chr4_157215728_157371075	157256254	A A	ATATTATA others(42): Show ATATTATATATTACATATATATGTTATATATTACATATATTATATATAAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02622.hp2 HG03130.hp2 HG01891.hp2 HG02622.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0001 a0001c0001t0004 a0001c0002t0001	a0001c0001t0004g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0001t0004g0039 a0001c0002t0001g0040 a0001c0002t0001g0041	3	216	0.0139	49	c.229 others(68): Show c.229+34447_229+34448insTATTATATATTACATATATATGTTAT ATATTACATATATTATATATAAT	GRIA2	ENSG00000120251.22	transcript	ENST00000264426.14	protein_coding	2/15			chr4	TogoVar
GRIA3_chrX_123179278_123495915	123260503	A A	AGGAAGGA others(42): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18989.hp1 NA18982.hp1 NA18989.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0089 a0001c0002t0004g0203 a0001c0002t0004g0089 a0001c0002t0004g0203	2	207	0.0097	49	c.508 others(66): Show c.508+6962_508+6963insGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGG	GRIA3	ENSG00000125675.20	transcript	ENST00000620443.2	protein_coding	3/15		INFO_REALIGN_3_PRIME	chrX	TogoVar
GRID1_chr10_85594552_86371795	85599802	A A	AAAAATAT others(42): Show AAAAATATATATATATATATATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0020 a0003c0006t0020	a0003c0006t0020g0026 a0003c0006t0020g0026	1	96	0.0104	49	c.24 others(60): Show c.2470_*2471insATATATATATATATATATATATATATATATATAT ATATATATATATTTT	GRID1	ENSG00000182771.19	transcript	ENST00000327946.12	protein_coding	16/16	2470		chr10	TogoVar
GRK5_chr10_119202571_119464745	119261070	G G	GGCCGGGC others(42): Show GGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGTGGCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00597.hp1 others(184): Show HG00140.hp1 HG00140.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp2 HG01258.hp1 HG01258.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18960.hp1 NA18960.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18985.hp1 NA18985.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19082.hp1 NA19082.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0004 a0001c0009 others(8): Show a0001c0001 a0001c0004 a0001c0009 a0001c0010 a0002c0003 a0002c0005 a0002c0011 a0003c0002 a0004c0006 a0005c0007 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(100): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0048 a0001c0001t0049 a0001c0001t0051 a0001c0001t0053 a0001c0001t0063 a0001c0001t0064 a0001c0001t0068 a0001c0001t0069 a0001c0001t0071 a0001c0001t0073 a0001c0001t0074 a0001c0001t0076 a0001c0001t0077 a0001c0001t0081 a0001c0001t0082 a0001c0001t0084 a0001c0001t0086 a0001c0001t0088 a0001c0001t0089 a0001c0004t0001 a0001c0004t0007 a0001c0004t0008 a0001c0004t0011 a0001c0004t0016 a0001c0004t0066 a0001c0009t0008 a0001c0010t0002 a0002c0003t0001 a0002c0003t0004 a0002c0003t0008 a0002c0003t0010 a0002c0003t0012 a0002c0003t0013 a0002c0003t0020 a0002c0003t0025 a0002c0003t0027 a0002c0003t0032 a0002c0003t0035 a0002c0003t0037 a0002c0003t0050 a0002c0003t0065 a0002c0003t0070 a0002c0003t0078 a0002c0003t0080 a0002c0005t0001 a0002c0005t0007 a0002c0005t0010 a0002c0005t0016 a0002c0005t0083 a0002c0005t0085 a0002c0005t0087 a0002c0005t0090 a0002c0011t0046 a0003c0002t0003 a0003c0002t0031 a0003c0002t0054 a0003c0002t0056 a0003c0002t0057 a0003c0002t0058 a0003c0002t0059 a0003c0002t0060 a0003c0002t0061 a0003c0002t0062 a0003c0002t0079 a0004c0006t0014 a0004c0006t0067 a0005c0007t0004 a0005c0007t0012 a0006c0008t0075	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0018 others(184): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0086 a0001c0001t0001g0123 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0136 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0194 a0001c0001t0002g0008 a0001c0001t0002g0012 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0057 a0001c0001t0002g0088 a0001c0001t0002g0095 a0001c0001t0002g0100 a0001c0001t0002g0106 a0001c0001t0002g0122 a0001c0001t0002g0129 a0001c0001t0002g0148 a0001c0001t0002g0183 a0001c0001t0003g0124 a0001c0001t0003g0175 a0001c0001t0003g0189 a0001c0001t0004g0004 a0001c0001t0004g0016 a0001c0001t0004g0038 a0001c0001t0004g0076 a0001c0001t0004g0093 a0001c0001t0004g0112 a0001c0001t0005g0007 a0001c0001t0005g0025 a0001c0001t0005g0032 a0001c0001t0005g0033 a0001c0001t0005g0035 a0001c0001t0005g0120 a0001c0001t0005g0125 a0001c0001t0006g0019 a0001c0001t0006g0085 a0001c0001t0006g0092 a0001c0001t0006g0155 a0001c0001t0006g0166 a0001c0001t0006g0169 a0001c0001t0007g0158 a0001c0001t0007g0165 a0001c0001t0007g0168 a0001c0001t0008g0101 a0001c0001t0009g0074 a0001c0001t0009g0110 a0001c0001t0009g0121 a0001c0001t0009g0138 a0001c0001t0010g0126 a0001c0001t0010g0188 a0001c0001t0011g0037 a0001c0001t0011g0046 a0001c0001t0012g0010 a0001c0001t0012g0030 a0001c0001t0015g0134 a0001c0001t0015g0156 a0001c0001t0017g0072 a0001c0001t0017g0137 a0001c0001t0018g0052 a0001c0001t0018g0135 a0001c0001t0019g0127 a0001c0001t0019g0177 a0001c0001t0020g0044 a0001c0001t0021g0073 a0001c0001t0021g0139 a0001c0001t0022g0094 a0001c0001t0022g0190 a0001c0001t0023g0098 a0001c0001t0023g0118 a0001c0001t0024g0091 a0001c0001t0024g0167 a0001c0001t0025g0185 a0001c0001t0026g0114 a0001c0001t0028g0039 a0001c0001t0033g0023 a0001c0001t0034g0202 a0001c0001t0036g0028 a0001c0001t0038g0070 a0001c0001t0039g0151 a0001c0001t0041g0049 a0001c0001t0042g0193 a0001c0001t0043g0199 a0001c0001t0044g0176 a0001c0001t0045g0180 a0001c0001t0048g0005 a0001c0001t0049g0103 a0001c0001t0051g0009 a0001c0001t0053g0117 a0001c0001t0063g0013 a0001c0001t0064g0142 a0001c0001t0068g0159 a0001c0001t0069g0084 a0001c0001t0071g0145 a0001c0001t0073g0161 a0001c0001t0074g0144 a0001c0001t0076g0163 a0001c0001t0077g0164 a0001c0001t0081g0195 a0001c0001t0082g0027 a0001c0001t0084g0192 a0001c0001t0086g0154 a0001c0001t0088g0080 a0001c0001t0089g0082 a0001c0004t0001g0053 a0001c0004t0001g0056 a0001c0004t0001g0060 a0001c0004t0001g0105 a0001c0004t0001g0196 a0001c0004t0007g0147 a0001c0004t0008g0200 a0001c0004t0011g0059 a0001c0004t0011g0150 a0001c0004t0016g0062 a0001c0004t0066g0141 a0001c0009t0008g0149 a0001c0010t0002g0047 a0002c0003t0001g0068 a0002c0003t0004g0097 a0002c0003t0004g0128 a0002c0003t0008g0067 a0002c0003t0010g0111 a0002c0003t0012g0184 a0002c0003t0013g0020 a0002c0003t0013g0104 a0002c0003t0020g0133 a0002c0003t0025g0045 a0002c0003t0027g0170 a0002c0003t0032g0109 a0002c0003t0035g0063 a0002c0003t0037g0021 a0002c0003t0050g0108 a0002c0003t0065g0162 a0002c0003t0070g0152 a0002c0003t0078g0153 a0002c0003t0080g0015 a0002c0005t0001g0036 a0002c0005t0007g0143 a0002c0005t0010g0022 a0002c0005t0016g0014 a0002c0005t0083g0029 a0002c0005t0085g0113 a0002c0005t0087g0079 a0002c0005t0090g0081 a0002c0011t0046g0102 a0003c0002t0003g0002 a0003c0002t0003g0011 a0003c0002t0003g0034 a0003c0002t0003g0050 a0003c0002t0003g0051 a0003c0002t0003g0078 a0003c0002t0003g0083 a0003c0002t0003g0089 a0003c0002t0003g0116 a0003c0002t0003g0172 a0003c0002t0003g0187 a0003c0002t0003g0198 a0003c0002t0031g0003 a0003c0002t0054g0048 a0003c0002t0056g0087 a0003c0002t0057g0090 a0003c0002t0058g0191 a0003c0002t0059g0096 a0003c0002t0060g0173 a0003c0002t0061g0197 a0003c0002t0062g0099 a0003c0002t0079g0157 a0004c0006t0014g0061 a0004c0006t0014g0069 a0004c0006t0067g0146 a0005c0007t0004g0026 a0005c0007t0012g0115 a0006c0008t0075g0181	187	202	0.9257	49	c.52+ others(66): Show c.52+53110_52+53111insGGGGCTGACCCCCCCCACCTCCCTCCCG GACGGGGTGGCTGCCGGGCGG	GRK5	ENSG00000198873.12	transcript	ENST00000392870.3	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
GRM4_chr6_34013643_34151087	34071829	A A	ACACACAT others(42): Show ACACACATCACCACACAGATACACAGCACACACAGACACAGAATCACCAC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0180 a0001c0002t0004g0180	1	282	0.0036	49	c.737 others(66): Show c.737-9802_737-9801insGTGGTGATTCTGTGTCTGTGTGTGCTGT GTATCTGTGTGGTGATGTGTG	GRM4	ENSG00000124493.14	transcript	ENST00000538487.7	protein_coding	3/10			chr6	TogoVar
GRM5_chr11_88499642_89070982	88687569	A A	ATATTATA others(42): Show ATATTATATATATATTATATATATATTATATATATATATTATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 NA18612.hp1 NA18945.hp2 others(4): Show HG01081.hp2 NA18612.hp1 NA18945.hp2 NA18981.hp2 NA18984.hp1 NA18991.hp1 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0053 a0001c0001t0002g0058 a0001c0001t0002g0098 others(4): Show a0001c0001t0002g0053 a0001c0001t0002g0058 a0001c0001t0002g0098 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0054 a0001c0001t0003g0059	7	184	0.0380	49	c.912 others(68): Show c.912-34167_912-34166insATATATATATAATATATATATATAAT ATATATATAATATATATATAATA	GRM5	ENSG00000168959.15	transcript	ENST00000305447.5	protein_coding	3/9			chr11	TogoVar
GRM8_chr7_126433598_127257941	127051776	A A	AAACAATG others(42): Show AAACAATGCATACATTTTGATAACATTTATATAGTATTTATAACATGCTG	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	108	0.0093	49	c.727 others(68): Show c.727+54671_727+54719dupCAGCATGTTATAAATACTATATAAAT GTTATCAAAATGTATGCATTGTT	GRM8	ENSG00000179603.19	transcript	ENST00000339582.7	protein_coding	3/10			chr7	TogoVar
GSDMA_chr17_39958004_39982768	39965246	A A	AAGGGAGG others(42): Show AAGGGAGGGAGGGAGGGAGGGAAAGAAAGAAGGAAGGAAGGAAGAAAGGG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02647.hp1 HG02486.hp1 HG02647.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0135 a0005c0005t0001g0136 a0005c0005t0001g0135 a0005c0005t0001g0136	2	438	0.0046	49	c.-5- others(62): Show c.-5-423_-5-422insGGAGGGAAAGAAAGAAGGAAGGAAGGAAGAAA GGGAGGGAGGGAGGGAG	GSDMA	ENSG00000167914.12	transcript	ENST00000301659.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
GTDC1_chr2_143933068_144337512	144136395	A A	AAAGGAAA others(42): Show AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03225.hp1 NA19240.hp1 HG02922.hp2 HG03225.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0008g0040 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0008g0040	3	124	0.0242	49	c.521 others(66): Show c.521+5486_521+5487insCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTT	GTDC1	ENSG00000121964.15	transcript	ENST00000682281.1	protein_coding	6/11			chr2	TogoVar
GTF2H5_chr6_158163350_158204344	158169686	A A	ATATATAT others(42): Show ATATATATTATATAATATATTGTATATTATATATTATATATATTGTATAT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0257 a0001c0001t0002g0257	1	384	0.0026	49	c.-34 others(64): Show c.-34-745_-34-744insTATTGTATATTATATATTATATAATATATT GTATATTATATATTATATA	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GTF2H5_chr6_158163350_158204344	158169745	T T	TATAATAT others(42): Show TATAATATATAATATTGTATATTATATATTGTATATTATATAATATATTG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0179 a0001c0001t0005g0179	1	384	0.0026	49	c.-34 others(64): Show c.-34-725_-34-724insATAATATATAATATTGTATATTATATATTG TATATTATATAATATATTG	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2			chr6	TogoVar
GUCY1A2_chr11_106669019_107023476	106710149	A A	ATATATAT others(42): Show ATATATATTATATACATGTATATAATATAGTTATATATATAATATATAGT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0241 a0001c0003t0003g0241	1	256	0.0039	49	c.183 others(68): Show c.1837-1532_1837-1484dupACTATATATTATATATATAACTATAT TATATACATGTATATAATATATA	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7			chr11	TogoVar
GYG2_chrX_2823930_2887818	2846055	A A	ATATACAC others(42): Show ATATACACACACACATATATATACACATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0021 a0002c0002t0004g0021	1	316	0.0032	49	c.149 others(66): Show c.149+2702_149+2703insATACACACACACATATATATACACATAT ATATATATATATATATATATT	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
H1-7_chr12_48323980_48335279	48332960	G G	GGGGGGGC others(42): Show GGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00438.hp2 HG00558.hp1 others(60): Show HG00323.hp1 HG00438.hp2 HG00558.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp2 HG01106.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG01433.hp2 HG01891.hp1 HG01975.hp1 HG01978.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02083.hp2 HG02132.hp2 HG02300.hp2 HG02523.hp1 HG02698.hp1 HG03453.hp1 HG03491.hp2 HG03492.hp2 HG03704.hp1 HG03834.hp2 NA18612.hp2 NA18940.hp2 NA18946.hp1 NA18948.hp2 NA18949.hp2 NA18952.hp1 NA18955.hp1 NA18959.hp1 NA18960.hp2 NA18966.hp1 NA18967.hp2 NA18969.hp2 NA18971.hp1 NA18980.hp1 NA18990.hp1 NA18992.hp2 NA18993.hp2 NA19009.hp1 NA19056.hp2 NA19065.hp2 NA19066.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19086.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0003 a0005c0005 a0001c0001 a0003c0003 a0005c0005	a0001c0001t0001 a0003c0003t0001 a0005c0005t0001 a0001c0001t0001 a0003c0003t0001 a0005c0005t0001	a0001c0001t0001g0000 a0003c0003t0001g0000 a0005c0005t0001g0000 a0001c0001t0001g0000 a0003c0003t0001g0000 a0005c0005t0001g0000	63	424	0.1486	49	c.29 others(60): Show c.2901_*2902insGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGC	H1-7	ENSG00000187166.1	transcript	ENST00000335017.1	protein_coding		2682		chr12	TogoVar
HAP1_chr17_41717640_41739643	41730109	A A	AAAGAAAA others(42): Show AAAGAAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	374	0.0027	49	c.106 others(68): Show c.1069+1383_1069+1384insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTTCTTTCTTTTCTT	HAP1	ENSG00000173805.16	transcript	ENST00000347901.9	protein_coding	6/10			chr17	TogoVar
HAUS1_chr18_46099385_46133333	46113010	T T	TATATATA others(42): Show TATATATATTCCATATATATGGAATATATATATTCCATATTATATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03209.hp1 NA19030.hp2 others(1): Show HG03041.hp1 HG03209.hp1 NA19030.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0021 a0001c0001t0001g0117 a0001c0001t0001g0118	4	372	0.0108	49	c.206 others(66): Show c.206-5156_206-5155insATATGGAATATATATATTCCATATTATA TATATAATATATATTCCATAT	HAUS1	ENSG00000152240.13	transcript	ENST00000282058.11	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
HCN2_chr19_584881_622159	585300	T T	TGGGGTGC others(42): Show TGGGGTGCGGAGGTGGATGTCCACCCCGTCGGTGGGTGCCCGGCGCGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0034 a0001c0034	a0001c0034t0026 a0001c0034t0026	a0001c0034t0026g0061 a0001c0034t0026g0061	1	408	0.0025	49	c.-46 others(60): Show c.-4646_-4645insGGGGTGCGGAGGTGGATGTCCACCCCGTCGGTGG GTGCCCGGCGCGGGG	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding		4580		chr19	TogoVar
HCN2_chr19_584881_622159	585444	A A	AGGGGTGC others(42): Show AGGGGTGCGGAGGTGGATGTCCGCCCCGTCGGTGGGTGCCCGGCGCGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0001 a0002c0012t0001	a0002c0012t0001g0366 a0002c0012t0001g0366	1	408	0.0025	49	c.-45 others(60): Show c.-4502_-4501insGGGGTGCGGAGGTGGATGTCCGCCCCGTCGGTGG GTGCCCGGCGCGGAG	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding		4436		chr19	TogoVar
HDAC4_chr2_239043168_239406020	239069065	G G	GTCACGGT others(42): Show GTCACGGTGCAAGCCAGCAAGCCCCACTGCACTTGCTTGGTGAGAGGGAA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0027 a0001c0003t0027	a0001c0003t0027g0134 a0001c0003t0027g0134	1	242	0.0041	49	c.275 others(66): Show c.2751-459_2751-458insTTCCCTCTCACCAAGCAAGTGCAGTGGG GCTTGCTGGCTTGCACCGTGA	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	22/26			chr2	TogoVar
HDAC4_chr2_239043168_239406020	239069583	G G	GCACTTGC others(42): Show GCACTTGCTGGGTGAGAGTGAGTCACGGTGCAAGCCAGCAAGCCCCACGA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02040.hp2 HG00609.hp1 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0211 a0001c0001t0001g0140 a0001c0001t0001g0211	2	242	0.0083	49	c.275 others(66): Show c.2751-977_2751-976insTCGTGGGGCTTGCTGGCTTGCACCGTGA CTCACTCTCACCCAGCAAGTG	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	22/26			chr2	TogoVar
HDAC4_chr2_239043168_239406020	239069593	G G	GGTGAGAG others(42): Show GGTGAGAGTGAGTCACGGTGCAAGCCAGCAAGCCCCACGACACTTGCTTA	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0210 a0001c0002t0004g0210	1	242	0.0041	49	c.275 others(66): Show c.2751-987_2751-986insTAAGCAAGTGTCGTGGGGCTTGCTGGCT TGCACCGTGACTCACTCTCAC	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	22/26			chr2	TogoVar
HDAC9_chr7_18490749_19007416	18985692	T T	TCCCCCCC others(42): Show TCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0006 a0001c0003t0005g0006	1	156	0.0064	49	c.317 others(68): Show c.3170+9739_3170+9740insCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCC	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	25/25			chr7	TogoVar
HEATR5B_chr2_36975895_37089372	36984215	A A	AAAAAAAA others(42): Show AAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0030 a0002c0003t0002g0030	1	314	0.0032	49	c.591 others(68): Show c.5912-2422_5912-2421insATATATATATATATATATATATATAT ATTTTTTTTTTTTTTTTTTTTTT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	36984215	A A	AAAAAAAA others(42): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0285 a0002c0003t0002g0285	1	314	0.0032	49	c.591 others(68): Show c.5912-2422_5912-2421insATATATATATATATATATATATATAT ATATTTTTTTTTTTTTTTTTTTT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	36984215	A A	AAAAAAAA others(42): Show AAAAAAAAAAATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0222 a0001c0002t0001g0222	1	314	0.0032	49	c.591 others(68): Show c.5912-2422_5912-2421insATATATATATATATATATATATATAT ATATATATATATATTTTTTTTTT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar
HECTD4_chr12_112155195_112387431	112323993	C C	CCTTTCCT others(42): Show CCTTTCCTTTCCTTTCCTTTCCTTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	270	0.0037	49	c.178 others(66): Show c.178-4252_178-4251insAAAGAAAGAAAGAAAGAAAGAAAGAAAA GGAAAGGAAAGGAAAGGAAAG	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/75			chr12	TogoVar
HGSNAT_chr8_43135464_43207855	43179666	T T	TCCCCCCA others(42): Show TCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02071.hp1 HG02015.hp2 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0200 a0001c0001t0002g0023 a0001c0001t0001g0200 a0001c0001t0002g0023	2	234	0.0086	49	c.101 others(68): Show c.1012+1452_1012+1453insCGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGA	HGSNAT	ENSG00000165102.15	transcript	ENST00000379644.9	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr8	TogoVar
HGSNAT_chr8_43135464_43207855	43181088	A A	AGAGGGAG others(42): Show AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0170 a0001c0001t0012g0170	1	234	0.0043	49	c.101 others(68): Show c.1013-1056_1013-1008dupGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAG	HGSNAT	ENSG00000165102.15	transcript	ENST00000379644.9	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr8	TogoVar
HIGD1C_chr12_50947544_50975607	50948931	G G	GGGGAGGG others(42): Show GGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0143 a0001c0002t0001g0143	1	380	0.0026	49	c.-38 others(60): Show c.-3848_-3847insGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGG GAGGGGAGGGGAGGA	HIGD1C	ENSG00000214511.4	transcript	ENST00000695931.1	protein_coding		3612		chr12	TogoVar
HIVEP2_chr6_142746469_142950176	142793673	T T	TTCTTTCT others(42): Show TTCTTTCTTTCTTTCTTTCTTTTTTTTTTCTTTCTTTCTTTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01261.hp2 NA18955.hp2 HG01261.hp2 NA18955.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0010 a0001c0001 a0002c0010	a0001c0001t0001 a0002c0010t0007 a0001c0001t0001 a0002c0010t0007	a0001c0001t0001g0135 a0002c0010t0007g0064 a0001c0001t0001g0135 a0002c0010t0007g0064	2	288	0.0069	49	c.-52 others(70): Show c.-527-10059_-527-10058insGAGAGAGAGAAAGAAAGAAAGAAA AAAAAAAGAAAGAAAGAAAGAAAGA	HIVEP2	ENSG00000010818.11	transcript	ENST00000367603.8	protein_coding	2/9			chr6	TogoVar
HMCN2_chr9_130260760_130439123	130307730	C C	CCACCCTC others(42): Show CCACCCTCACCCCCAGCCTGTGTTGACACAGCTCATGTAGGTATTCAGAG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0163 a0163	a0163c0182 a0163c0182	a0163c0182t0002 a0163c0182t0002	a0163c0182t0002g0159 a0163c0182t0002g0159	1	258	0.0039	49	c.220 others(66): Show c.2200+167_2200+215dupCCCTCACCCCCAGCCTGTGTTGACACAG CTCATGTAGGTATTCAGAGCA	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	14/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HMCN2_chr9_130260760_130439123	130312539	C C	CCCTCCCT others(42): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0096 a0001c0096	a0001c0096t0001 a0001c0096t0001	a0001c0096t0001g0150 a0001c0096t0001g0150	1	258	0.0039	49	c.235 others(68): Show c.2350+2479_2350+2480insCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCTTCTCTTTCTTTC	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	15/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HMGCLL1_chr6_55429373_55584192	55477424	A A	ATATATAT others(42): Show ATATATATTAATATAAATATAATATATATTATATTATATATAATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	334	0.0030	49	c.795 others(68): Show c.795+17994_795+17995insATATATATTATATATAATATAATATA TATTATATTTATATTAATATATA	HMGCLL1	ENSG00000146151.14	transcript	ENST00000274901.9	protein_coding	7/8			chr6	TogoVar
HMGCLL1_chr6_55429373_55584192	55477424	A A	ATATATAT others(42): Show ATATATATTATATATAATATAATATATATTATATTATATATAATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp2 HG00741.hp1 others(55): Show HG00639.hp2 HG00642.hp2 HG00741.hp1 HG01167.hp2 HG01168.hp2 HG01243.hp1 HG01433.hp2 HG01934.hp2 HG01978.hp1 HG02074.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp2 HG02257.hp1 HG02523.hp2 HG02622.hp1 HG02698.hp2 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03540.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA18939.hp2 NA18942.hp2 NA18948.hp2 NA18955.hp2 NA18962.hp1 NA18983.hp2 NA18992.hp1 NA19001.hp1 NA19030.hp2 NA19043.hp1 NA19074.hp1 NA19076.hp2 NA19079.hp2 NA19085.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0004t0002	a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0022 others(54): Show a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0097 a0001c0001t0001g0111 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0148 a0001c0001t0001g0158 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0213 a0001c0001t0001g0225 a0001c0001t0001g0231 a0001c0001t0001g0238 a0001c0001t0001g0274 a0001c0001t0001g0317 a0001c0001t0002g0072 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0219 a0001c0001t0004g0151 a0001c0001t0004g0223 a0001c0001t0004g0224 a0001c0001t0006g0010 a0001c0001t0009g0247 a0001c0001t0012g0005 a0001c0001t0014g0329 a0001c0004t0002g0212	58	334	0.1737	49	c.795 others(68): Show c.795+17994_795+17995insATATATATTATATATAATATAATATA TATTATATTATATATAATATATA	HMGCLL1	ENSG00000146151.14	transcript	ENST00000274901.9	protein_coding	7/8			chr6	TogoVar
HMGCLL1_chr6_55429373_55584192	55477437	A A	ATAATATA others(42): Show ATAATATAATATATATTATATTATATATAATATATATTATATATTATATG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02572.hp1 HG02895.hp2 others(2): Show HG02451.hp2 HG02572.hp1 HG02895.hp2 HG02897.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0328 a0001c0001t0005g0220 a0001c0001t0005g0239 others(2): Show a0001c0001t0004g0328 a0001c0001t0005g0220 a0001c0001t0005g0239 a0001c0001t0005g0240 a0001c0001t0005g0277	5	334	0.0150	49	c.795 others(68): Show c.795+17981_795+17982insCATATAATATATAATATATATTATAT ATAATATAATATATATTATATTA	HMGCLL1	ENSG00000146151.14	transcript	ENST00000274901.9	protein_coding	7/8			chr6	TogoVar
HOMER2_chr15_82843983_82957720	82868541	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	348	0.0029	49	c.295 others(66): Show c.295-4283_295-4282insAAAAAAAAAAAAAAATATATATATATAT ATATATATATATATATATATA	HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	3/8			chr15	TogoVar
HOXC8_chr12_54003985_54017769	54013999	C C	CTTCTCTT others(42): Show CTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	306	0.0033	49	c.26 others(60): Show c.2618_*2619insTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCT CTTCTCTTCTCTTCT	HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding		1231		chr12	TogoVar
HOXC8_chr12_54003985_54017769	54014000	T T	TTCTCTTC others(42): Show TTCTCTTCTCTTCTCTTCTCTTCTCTTCTTTCTCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0001 a0001c0001t0012g0001	1	306	0.0033	49	c.26 others(60): Show c.2619_*2620insTCTCTTCTCTTCTCTTCTCTTCTCTTCTTTCTCT CTCTCTCTCTCTCTC	HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding		1232		chr12	TogoVar
HSPA4_chr5_133047013_133111449	133108989	T T	TGCCCGGC others(42): Show TGCCCGGCCAGCCACCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG00609.hp2 others(68): Show HG00438.hp1 HG00558.hp1 HG00609.hp2 HG01243.hp2 HG01496.hp1 HG02056.hp1 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02132.hp2 HG02135.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02896.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp2 HG03225.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp2 HG06807.hp2 NA18522.hp1 NA18939.hp1 NA18940.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18953.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp2 NA18974.hp1 NA18977.hp2 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18987.hp2 NA18989.hp1 NA18993.hp2 NA18995.hp1 NA18998.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19011.hp2 NA19043.hp1 NA19058.hp2 NA19060.hp2 NA19068.hp1 NA19070.hp2 NA19078.hp2 NA19079.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0007 a0006c0010 a0001c0001 a0001c0007 a0006c0010	a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 others(23): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0019 a0001c0001t0020 a0001c0001t0024 a0001c0001t0025 a0001c0001t0032 a0001c0001t0033 a0001c0001t0041 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0056 a0001c0001t0057 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0007t0012 a0006c0010t0009	a0001c0001t0003g0076 a0001c0001t0003g0085 a0001c0001t0003g0086 others(68): Show a0001c0001t0003g0076 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0103 a0001c0001t0003g0105 a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0120 a0001c0001t0003g0123 a0001c0001t0003g0125 a0001c0001t0003g0181 a0001c0001t0008g0130 a0001c0001t0008g0132 a0001c0001t0008g0133 a0001c0001t0008g0137 a0001c0001t0008g0138 a0001c0001t0008g0141 a0001c0001t0009g0143 a0001c0001t0010g0134 a0001c0001t0012g0084 a0001c0001t0014g0102 a0001c0001t0014g0106 a0001c0001t0014g0117 a0001c0001t0014g0119 a0001c0001t0014g0124 a0001c0001t0019g0081 a0001c0001t0019g0090 a0001c0001t0019g0118 a0001c0001t0020g0140 a0001c0001t0020g0144 a0001c0001t0024g0080 a0001c0001t0024g0082 a0001c0001t0025g0004 a0001c0001t0025g0182 a0001c0001t0032g0149 a0001c0001t0033g0148 a0001c0001t0041g0122 a0001c0001t0050g0121 a0001c0001t0051g0004 a0001c0001t0052g0112 a0001c0001t0053g0135 a0001c0001t0056g0145 a0001c0001t0057g0104 a0001c0001t0063g0356 a0001c0001t0064g0018 a0001c0001t0065g0150 a0001c0001t0066g0147 a0001c0001t0067g0017 a0001c0007t0012g0142 a0001c0007t0012g0151 a0006c0010t0009g0136	71	364	0.1951	49	c.45 others(60): Show c.4553_*4554insGCCCGGCCAGCCACCCCATCCGGGAGGGAGGTGG GGGGGTCAGCCCCCC	HSPA4	ENSG00000170606.16	transcript	ENST00000304858.7	protein_coding		2541		chr5	TogoVar
HSPA4_chr5_133047013_133111449	133108991	C C	CCCGGCCA others(42): Show CCCGGCCAGCCACCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0111 a0001c0001t0058g0111	1	364	0.0028	49	c.45 others(60): Show c.4555_*4556insCCGGCCAGCCACCCCATCCGGGAGGGAGGTGGGG GGGTCAGCCCCCCGA	HSPA4	ENSG00000170606.16	transcript	ENST00000304858.7	protein_coding		2543		chr5	TogoVar
HTT_chr4_3069681_3248957	3169022	C C	CTTTCTTT others(42): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03139.hp1 HG02615.hp2 HG03139.hp1	a0046 a0090 a0046 a0090	a0046c0055 a0090c0126 a0046c0055 a0090c0126	a0046c0055t0011 a0090c0126t0003 a0046c0055t0011 a0090c0126t0003	a0046c0055t0011g0204 a0090c0126t0003g0018 a0046c0055t0011g0204 a0090c0126t0003g0018	2	294	0.0068	49	c.386 others(68): Show c.3865-3295_3865-3294insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTT	HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding	29/66		INFO_REALIGN_3_PRIME	chr4	TogoVar
HYDIN_chr16_70797084_71235722	70902821	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0062 a0001c0062	a0001c0062t0013 a0001c0062t0013	a0001c0062t0013g0104 a0001c0062t0013g0104	1	174	0.0058	49	c.884 others(66): Show c.8849+803_8849+804insAAAAAAAAAAAAAAATATATATATATAT ATATATATATATATATATATA	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	52/85			chr16	TogoVar
IDE_chr10_92446684_92579093	92524442	A A	ATATAATA others(42): Show ATATAATATATATTATATTATATATATTATATATAAAATATAATATATAT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0294 a0001c0001t0002g0294	1	314	0.0032	49	c.661 others(66): Show c.661+7305_661+7306insATATATATTATATTTTATATATAATATA TATAATATAATATATATTATA	IDE	ENSG00000119912.18	transcript	ENST00000265986.11	protein_coding	4/24			chr10	TogoVar
IDO2_chr8_39929651_40021392	39994165	T T	TACCATTT others(42): Show TACCATTTGCCCTTTTATTTTGCTAAATAAGTATATTTTATTAAAAATTG	intron_variant intron_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0087 a0003c0003t0002g0087	1	360	0.0028	49	c.667 others(66): Show c.667+4327_667+4328insACCATTTGCCCTTTTATTTTGCTAAATA AGTATATTTTATTAAAAATTG	IDO2	ENSG00000188676.15	transcript	ENST00000502986.4	protein_coding	8/10			chr8	TogoVar
IFNAR1_chr21_33319970_33364864	33321828	C C	CATATATA others(42): Show CATATATATGTGGAACCAATACATATATGGAACATATATATGTGGAACCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp2 NA18967.hp1 NA19003.hp1 others(2): Show NA18747.hp2 NA18967.hp1 NA19003.hp1 NA19070.hp2 NA19083.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0006 a0002c0002t0002 a0002c0002t0006	a0002c0002t0002g0009 a0002c0002t0002g0168 a0002c0002t0006g0009 a0002c0002t0002g0009 a0002c0002t0002g0168 a0002c0002t0006g0009	5	323	0.0155	49	c.-32 others(60): Show c.-3228_-3227insATATATATGTGGAACCAATACATATATGGAACAT ATATATGTGGAACCA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3141		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322587	A A	ATGGAATA others(42): Show ATGGAATACAAATATACGGAATATATATATGGAATACATATATACGGAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp1 NA19083.hp1 NA19003.hp1 NA19083.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0009 a0002c0002t0002g0168 a0002c0002t0002g0009 a0002c0002t0002g0168	2	323	0.0062	49	c.-24 others(60): Show c.-2469_-2468insTGGAATACAAATATACGGAATATATATATGGAAT ACATATATACGGAAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2382		chr21	TogoVar
IFNGR1_chr6_137192485_137224385	137199500	A A	AATATATA others(42): Show AATATATAATATATTATATATTATATATAATATATAATTTATAATATATT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG01256.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	2	390	0.0051	49	c.862 others(64): Show c.862-862_862-861insAATATATTATAAATTATATATTATATATAA TATATAATATATTATATAT	IFNGR1	ENSG00000027697.16	transcript	ENST00000367739.9	protein_coding	6/6			chr6	TogoVar
IFNGR1_chr6_137192485_137224385	137199528	A A	AATATATA others(42): Show AATATATAATTTATAATATATTATATATAATATATAATTTATTATATATT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00597.hp1 HG00735.hp2 others(51): Show HG00140.hp1 HG00597.hp1 HG00735.hp2 HG01071.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01175.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp2 HG01891.hp1 HG01981.hp1 HG02015.hp1 HG02040.hp1 HG02071.hp1 HG02074.hp1 HG02145.hp2 HG02257.hp1 HG02280.hp1 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02717.hp2 HG02735.hp2 HG02809.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03139.hp2 HG03209.hp1 HG03453.hp2 HG03486.hp1 HG03491.hp2 HG03540.hp2 HG03710.hp2 HG03834.hp1 NA18522.hp2 NA18906.hp2 NA18941.hp2 NA18949.hp1 NA18977.hp2 NA18978.hp1 NA19002.hp1 NA19030.hp1 NA19056.hp2 NA19078.hp1 NA19087.hp1 NA19240.hp1 NA19240.hp2 NA20752.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0007c0013	a0001c0001t0002 a0001c0002t0002 a0001c0007t0002 others(1): Show a0001c0001t0002 a0001c0002t0002 a0001c0007t0002 a0007c0013t0002	a0001c0001t0002g0010 a0001c0001t0002g0098 a0001c0001t0002g0099 others(29): Show a0001c0001t0002g0010 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0139 a0001c0002t0002g0004 a0001c0002t0002g0016 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0002g0123 a0001c0002t0002g0124 a0001c0002t0002g0125 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0129 a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0002g0138 a0001c0002t0002g0140 a0001c0002t0002g0141 a0001c0002t0002g0142 a0001c0007t0002g0050 a0001c0007t0002g0052 a0007c0013t0002g0118	54	390	0.1385	49	c.862 others(64): Show c.862-890_862-889insAATATATAATAAATTATATATTATATATAA TATATTATAAATTATATAT	IFNGR1	ENSG00000027697.16	transcript	ENST00000367739.9	protein_coding	6/6			chr6	TogoVar
IFT140_chr16_1505427_1617072	1599618	G G	GCCCGGCC others(42): Show GCCCGGCCAGCCTCCCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCCCA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0001 a0001c0002t0005g0002 a0001c0002t0005g0001 a0001c0002t0005g0002	2	334	0.0060	49	c.369 others(66): Show c.369+2751_369+2752insTGGGGGGCTGACACCCCCACCTCCCTCC CGGACGGGGAGGCTGGCCGGG	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar

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