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.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
GDNF_chr5_37807677_37845041	37811325	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00639.hp1 others(5): Show HG00099.hp1 HG00280.hp1 HG00639.hp1 HG01070.hp1 HG01071.hp2 HG01256.hp1 HG02698.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0095 a0001c0001t0014 a0001c0001t0095	a0001c0001t0014g0015 a0001c0001t0014g0060 a0001c0001t0014g0255 others(1): Show a0001c0001t0014g0015 a0001c0001t0014g0060 a0001c0001t0014g0255 a0001c0001t0095g0254	8	430	0.0186	-14	c.43 others(25): Show c.4312_*4325delACACACACACACAC	GDNF	ENSG00000168621.15	transcript	ENST00000326524.7	protein_coding		1351		chr5	TogoVar
GDPD4_chr11_77211558_77306686	77297051	CAAAAAAA others(7): Show CAAAAAAAACAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp1 HG02572.hp2 others(13): Show HG01891.hp1 HG02145.hp1 HG02572.hp2 HG02630.hp2 HG02886.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03540.hp1 NA18906.hp2 NA19240.hp1	a0002 a0009 a0002 a0009	a0002c0002 a0009c0009 a0002c0002 a0009c0009	a0002c0002t0001 a0002c0002t0005 a0009c0009t0001 a0002c0002t0001 a0002c0002t0005 a0009c0009t0001	a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0189 others(13): Show a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0005g0186 a0009c0009t0001g0191	16	350	0.0457	-14	c.-25 others(33): Show c.-254+4540_-254+4553delTTTTTGTTTTTTTT	GDPD4	ENSG00000178795.10	transcript	ENST00000315938.5	protein_coding	1/16			chr11	TogoVar
GDPD4_chr11_77211558_77306686	77298027	TTGGAAGT others(7): Show TTGGAAGTTCAGGAG	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0090 a0002c0002t0002g0090	1	350	0.0029	-14	c.-25 others(33): Show c.-254+3564_-254+3577delCTCCTGAACTTCCA	GDPD4	ENSG00000178795.10	transcript	ENST00000315938.5	protein_coding	1/16			chr11	TogoVar
GDPD4_chr11_77211558_77306686	77304988	TCACACAC others(7): Show TCACACACACACACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02145.hp2 HG02451.hp2 others(7): Show HG01243.hp1 HG02145.hp2 HG02451.hp2 HG02486.hp2 HG02630.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 NA18522.hp2 NA19043.hp2	a0002 a0003 a0008 a0002 a0003 a0008	a0002c0002 a0003c0003 a0008c0007 a0002c0002 a0003c0003 a0008c0007	a0002c0002t0005 a0002c0002t0008 a0003c0003t0002 others(1): Show a0002c0002t0005 a0002c0002t0008 a0003c0003t0002 a0008c0007t0014	a0002c0002t0005g0200 a0002c0002t0005g0201 a0002c0002t0005g0213 others(7): Show a0002c0002t0005g0200 a0002c0002t0005g0201 a0002c0002t0005g0213 a0002c0002t0005g0214 a0002c0002t0008g0215 a0002c0002t0008g0216 a0002c0002t0008g0217 a0002c0002t0008g0218 a0003c0003t0002g0057 a0008c0007t0014g0174	10	350	0.0286	-14	c.-36 others(25): Show c.-3651_-3638delTGTGTGTGTGTGTG	GDPD4	ENSG00000178795.10	transcript	ENST00000315938.5	protein_coding		3303		chr11	TogoVar
GDPD5_chr11_75429640_75530941	75485510	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01168.hp1 HG01978.hp2 HG01109.hp1 HG01168.hp1 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0003 a0001c0001t0002 a0001c0003t0003	a0001c0001t0002g0006 a0001c0003t0003g0240 a0001c0001t0002g0006 a0001c0003t0003g0240	3	322	0.0093	-14	c.-61 others(31): Show c.-61+4713_-61+4726delGTGTGTGTGTGTGT	GDPD5	ENSG00000158555.15	transcript	ENST00000336898.8	protein_coding	2/16			chr11	TogoVar
GDPD5_chr11_75429640_75530941	75504493	ACAAAGAA others(7): Show ACAAAGAAGGGGATC	A A	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0240 a0001c0003t0003g0240	1	322	0.0031	-14	c.-14 others(35): Show c.-144-14187_-144-14174delGATCCCCTTCTTTG	GDPD5	ENSG00000158555.15	transcript	ENST00000336898.8	protein_coding	1/16			chr11	TogoVar
GDPGP1_chr15_90229209_90250811	90242431	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00558.hp1 others(95): Show HG00408.hp1 HG00544.hp1 HG00558.hp1 HG00735.hp2 HG01081.hp2 HG01109.hp2 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01981.hp2 HG02004.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02257.hp2 HG02258.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02723.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03453.hp2 HG03579.hp2 HG03654.hp1 HG03834.hp1 HG03942.hp2 HG04199.hp1 HG04228.hp1 NA18747.hp2 NA18906.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18952.hp2 NA18954.hp2 NA18957.hp1 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18966.hp2 NA18970.hp2 NA18972.hp2 NA18973.hp1 NA18978.hp1 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18989.hp1 NA18993.hp2 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA19004.hp1 NA19010.hp2 NA19030.hp2 NA19055.hp2 NA19059.hp2 NA19060.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19079.hp2 NA19081.hp1 NA19082.hp1 NA19086.hp1 NA19090.hp1 NA20129.hp1 NA20129.hp2 NA21309.hp2	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0004c0004 a0007c0007 a0001c0001 a0004c0004 a0007c0007	a0001c0001t0002 a0001c0001t0007 a0001c0001t0018 others(29): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0018 a0001c0001t0033 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0049 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0091 a0001c0001t0092 a0004c0004t0011 a0004c0004t0050 a0004c0004t0076 a0004c0004t0093 a0004c0004t0094 a0004c0004t0096 a0004c0004t0097 a0004c0004t0098 a0004c0004t0104 a0007c0007t0049	a0001c0001t0002g0002 a0001c0001t0002g0011 a0001c0001t0002g0017 others(52): Show a0001c0001t0002g0002 a0001c0001t0002g0011 a0001c0001t0002g0017 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0038 a0001c0001t0002g0043 a0001c0001t0002g0051 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0007g0002 a0001c0001t0007g0031 a0001c0001t0007g0043 a0001c0001t0007g0087 a0001c0001t0007g0091 a0001c0001t0007g0094 a0001c0001t0018g0002 a0001c0001t0033g0044 a0001c0001t0033g0086 a0001c0001t0036g0003 a0001c0001t0037g0002 a0001c0001t0038g0002 a0001c0001t0039g0002 a0001c0001t0039g0030 a0001c0001t0049g0011 a0001c0001t0058g0002 a0001c0001t0059g0002 a0001c0001t0060g0003 a0001c0001t0061g0002 a0001c0001t0073g0005 a0001c0001t0074g0017 a0001c0001t0075g0011 a0001c0001t0077g0002 a0001c0001t0078g0002 a0001c0001t0079g0002 a0001c0001t0080g0002 a0001c0001t0091g0011 a0001c0001t0092g0011 a0004c0004t0011g0010 a0004c0004t0011g0037 a0004c0004t0050g0019 a0004c0004t0076g0070 a0004c0004t0093g0019 a0004c0004t0094g0019 a0004c0004t0096g0068 a0004c0004t0097g0010 a0004c0004t0098g0010 a0004c0004t0104g0037 a0007c0007t0049g0002	98	438	0.2237	-14	c.38 others(23): Show c.383_*396delTTTTTTTTTTTTTT	GDPGP1	ENSG00000183208.13	transcript	ENST00000329600.8	protein_coding	4/4	383	INFO_REALIGN_3_PRIME	chr15	TogoVar
GDPGP1_chr15_90229209_90250811	90246787	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 NA18993.hp1 NA19002.hp1 others(1): Show HG00609.hp1 NA18993.hp1 NA19002.hp1 NA19058.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0025 a0001c0001t0035 a0002c0002t0004 others(1): Show a0001c0001t0025 a0001c0001t0035 a0002c0002t0004 a0002c0002t0029	a0001c0001t0025g0028 a0001c0001t0035g0033 a0002c0002t0004g0065 others(1): Show a0001c0001t0025g0028 a0001c0001t0035g0033 a0002c0002t0004g0065 a0002c0002t0029g0001	4	438	0.0091	-14	c.47 others(25): Show c.4722_*4735delAAAAAAAAAAAAAA	GDPGP1	ENSG00000183208.13	transcript	ENST00000329600.8	protein_coding		977		chr15	TogoVar
GDPGP1_chr15_90229209_90250811	90248718	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00408.hp1 others(161): Show HG00099.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00642.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01192.hp2 HG01358.hp2 HG01496.hp2 HG01517.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02886.hp2 HG02970.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03453.hp2 HG03492.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03942.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18978.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18987.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp2 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19070.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp2 NA19087.hp2 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp2 NA20905.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0011	a0001c0001 a0002c0002 a0007c0007 others(1): Show a0001c0001 a0002c0002 a0007c0007 a0011c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(42): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0001c0001t0018 a0001c0001t0025 a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0051 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0077 a0001c0001t0078 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0092 a0001c0001t0115 a0002c0002t0022 a0007c0007t0049 a0007c0007t0095 a0011c0011t0003	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(80): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0002g0002 a0001c0001t0002g0011 a0001c0001t0002g0017 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0038 a0001c0001t0002g0043 a0001c0001t0002g0051 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0089 a0001c0001t0002g0092 a0001c0001t0003g0003 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0009 a0001c0001t0003g0066 a0001c0001t0003g0072 a0001c0001t0003g0076 a0001c0001t0003g0081 a0001c0001t0007g0002 a0001c0001t0007g0043 a0001c0001t0007g0087 a0001c0001t0007g0094 a0001c0001t0010g0003 a0001c0001t0010g0077 a0001c0001t0018g0002 a0001c0001t0025g0020 a0001c0001t0025g0028 a0001c0001t0033g0044 a0001c0001t0033g0086 a0001c0001t0034g0041 a0001c0001t0036g0003 a0001c0001t0037g0002 a0001c0001t0038g0002 a0001c0001t0039g0002 a0001c0001t0040g0005 a0001c0001t0040g0006 a0001c0001t0041g0005 a0001c0001t0042g0005 a0001c0001t0051g0020 a0001c0001t0051g0082 a0001c0001t0058g0002 a0001c0001t0059g0002 a0001c0001t0060g0003 a0001c0001t0061g0002 a0001c0001t0062g0028 a0001c0001t0063g0040 a0001c0001t0064g0042 a0001c0001t0065g0003 a0001c0001t0066g0044 a0001c0001t0072g0002 a0001c0001t0073g0005 a0001c0001t0074g0017 a0001c0001t0075g0011 a0001c0001t0077g0002 a0001c0001t0078g0002 a0001c0001t0080g0002 a0001c0001t0081g0003 a0001c0001t0082g0006 a0001c0001t0084g0005 a0001c0001t0085g0003 a0001c0001t0086g0009 a0001c0001t0087g0005 a0001c0001t0092g0011 a0001c0001t0115g0071 a0002c0002t0022g0001 a0007c0007t0049g0002 a0007c0007t0095g0002 a0011c0011t0003g0040	164	438	0.3744	-14	c.66 others(25): Show c.6653_*6666delAAAAAAAAAAAAAA	GDPGP1	ENSG00000183208.13	transcript	ENST00000329600.8	protein_coding		2908		chr15	TogoVar
GEMIN2_chr14_39109323_39141973	39129934	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03130.hp1 HG03209.hp1 others(1): Show HG02280.hp2 HG03130.hp1 HG03209.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 others(1): Show a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0340	4	424	0.0094	-14	c.600 others(31): Show c.600+1597_600+1610delTTTTTTTTTTTTTT	GEMIN2	ENSG00000092208.19	transcript	ENST00000308317.12	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
GEMIN6_chr2_38773210_38790002	38773756	CTTCTTTC others(7): Show CTTCTTTCTTTCTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0134 a0001c0001t0003g0134	1	412	0.0024	-14	c.-45 others(25): Show c.-4544_-4531delTTCTTTCTTTCTCT	GEMIN6	ENSG00000152147.11	transcript	ENST00000281950.8	protein_coding		4453		chr2	TogoVar
GEMIN6_chr2_38773210_38790002	38773821	TTCTTTCT others(7): Show TTCTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00673.hp1 HG00741.hp1 others(32): Show HG00609.hp1 HG00673.hp1 HG00741.hp1 HG01081.hp1 HG01106.hp1 HG01167.hp2 HG01192.hp2 HG01257.hp1 HG01516.hp2 HG01975.hp2 HG02155.hp1 HG02155.hp2 HG02451.hp1 HG02523.hp1 HG02622.hp2 HG02630.hp2 HG02698.hp1 HG02809.hp2 HG02818.hp2 HG02922.hp2 HG03017.hp2 HG03453.hp2 HG03491.hp1 HG03492.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 NA18522.hp1 NA18747.hp2 NA18951.hp2 NA19001.hp1 NA19063.hp1 NA19084.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(8): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0013 a0001c0001t0017 a0001c0001t0021 a0001c0001t0023 a0001c0001t0031 a0001c0001t0033 a0001c0001t0041 a0001c0001t0042	a0001c0001t0002g0011 a0001c0001t0002g0015 a0001c0001t0002g0016 others(24): Show a0001c0001t0002g0011 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0044 a0001c0001t0002g0073 a0001c0001t0002g0078 a0001c0001t0002g0081 a0001c0001t0002g0087 a0001c0001t0002g0090 a0001c0001t0004g0006 a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0017 a0001c0001t0004g0042 a0001c0001t0004g0067 a0001c0001t0005g0030 a0001c0001t0013g0006 a0001c0001t0013g0016 a0001c0001t0017g0014 a0001c0001t0017g0040 a0001c0001t0021g0006 a0001c0001t0023g0006 a0001c0001t0023g0015 a0001c0001t0031g0014 a0001c0001t0033g0006 a0001c0001t0041g0006 a0001c0001t0042g0014	35	412	0.0850	-14	c.-44 others(25): Show c.-4479_-4466delTCTTTCTTTCTTTC	GEMIN6	ENSG00000152147.11	transcript	ENST00000281950.8	protein_coding		4388		chr2	TogoVar
GEMIN6_chr2_38773210_38790002	38779660	ATATATTT others(7): Show ATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	412	0.0024	-14	c.128 others(29): Show c.128+544_128+557delATATTTTTTTTTTT	GEMIN6	ENSG00000152147.11	transcript	ENST00000281950.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
GEMIN6_chr2_38773210_38790002	38779662	ATATTTTT others(7): Show ATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0100 a0001c0001t0032g0100	1	412	0.0024	-14	c.128 others(29): Show c.128+546_128+559delATTTTTTTTTTTTT	GEMIN6	ENSG00000152147.11	transcript	ENST00000281950.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
GEMIN6_chr2_38773210_38790002	38779664	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0092 a0001c0001t0065g0092	1	412	0.0024	-14	c.128 others(29): Show c.128+560_128+573delTTTTTTTTTTTTTT	GEMIN6	ENSG00000152147.11	transcript	ENST00000281950.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
GEMIN6_chr2_38773210_38790002	38784693	GTGTAAAC others(7): Show GTGTAAACAATTTGC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0124 a0001c0001t0044g0124	1	412	0.0024	-14	c.28 others(25): Show c.2802_*2815delTGTAAACAATTTGC	GEMIN6	ENSG00000152147.11	transcript	ENST00000281950.8	protein_coding	3/3	2802		chr2	TogoVar
GEMIN8_chrX_14001726_14034892	14022004	TATGTATG others(7): Show TATGTATGTATACAC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 NA19043.hp1 HG01106.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0078 a0001c0001t0001g0079	2	273	0.0073	-14	c.-33 others(29): Show c.-33-507_-33-494delGTGTATACATACAT	GEMIN8	ENSG00000046647.14	transcript	ENST00000680255.1	protein_coding	2/4			chrX	TogoVar
GEN1_chr2_17749138_17793946	17778317	CACACACG others(7): Show CACACACGTGTACAT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01884.hp2 HG01070.hp2 HG01884.hp2	a0003 a0009 a0003 a0009	a0003c0003 a0009c0018 a0003c0003 a0009c0018	a0003c0003t0048 a0009c0018t0003 a0003c0003t0048 a0009c0018t0003	a0003c0003t0048g0056 a0009c0018t0003g0050 a0003c0003t0048g0056 a0009c0018t0003g0050	2	318	0.0063	-14	c.126 others(31): Show c.1264+256_1264+269delCACACGTGTACATA	GEN1	ENSG00000178295.15	transcript	ENST00000381254.7	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
GFM2_chr5_74716206_74772117	74732927	GACACACA others(7): Show GACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA18945.hp2 HG02965.hp1 NA18945.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0118 a0002c0002t0001g0146 a0001c0001t0001g0118 a0002c0002t0001g0146	2	372	0.0054	-14	c.158 others(29): Show c.1587+81_1587+94delGTGTGTGTGTGTGT	GFM2	ENSG00000164347.18	transcript	ENST00000296805.8	protein_coding	16/20			chr5	TogoVar
GFOD1_chr6_13352830_13492600	13374265	TTTTTTTT others(7): Show TTTTTTTTTTGTGTG	T T	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0097 a0001c0001t0097	a0001c0001t0097g0152 a0001c0001t0097g0152	1	230	0.0044	-14	c.254 others(31): Show c.254-8617_254-8604delCACACAAAAAAAAA	GFOD1	ENSG00000145990.11	transcript	ENST00000379287.4	protein_coding	1/1			chr6	TogoVar
GFOD1_chr6_13352830_13492600	13390771	GAGAGAGA others(7): Show GAGAGAGAGAAAGGA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02145.hp2 HG02559.hp1 others(10): Show HG02109.hp1 HG02145.hp2 HG02559.hp1 HG02630.hp1 HG02896.hp1 HG02897.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03453.hp2 HG03579.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(8): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0021 a0001c0001t0035 a0001c0001t0043 a0001c0001t0044 a0001c0001t0062 a0001c0001t0073 a0001c0002t0008 a0001c0002t0108	a0001c0001t0002g0049 a0001c0001t0004g0008 a0001c0001t0006g0162 others(10): Show a0001c0001t0002g0049 a0001c0001t0004g0008 a0001c0001t0006g0162 a0001c0001t0021g0163 a0001c0001t0035g0007 a0001c0001t0043g0014 a0001c0001t0044g0016 a0001c0001t0062g0077 a0001c0001t0073g0056 a0001c0002t0008g0060 a0001c0002t0008g0067 a0001c0002t0008g0068 a0001c0002t0108g0197	13	230	0.0565	-14	c.254 others(33): Show c.254-25123_254-25110delTCCTTTCTCTCTCT	GFOD1	ENSG00000145990.11	transcript	ENST00000379287.4	protein_coding	1/1			chr6	TogoVar
GFOD1_chr6_13352830_13492600	13410577	GGAGAGAG others(7): Show GGAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02572.hp2 others(3): Show HG01884.hp1 HG01891.hp1 HG02572.hp2 HG02622.hp2 HG02647.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0033 a0001c0001t0063 a0001c0001t0109 others(2): Show a0001c0001t0033 a0001c0001t0063 a0001c0001t0109 a0001c0003t0025 a0001c0003t0055	a0001c0001t0033g0002 a0001c0001t0063g0120 a0001c0001t0109g0194 others(3): Show a0001c0001t0033g0002 a0001c0001t0063g0120 a0001c0001t0109g0194 a0001c0003t0025g0188 a0001c0003t0025g0195 a0001c0003t0055g0161	6	230	0.0261	-14	c.254 others(33): Show c.254-44929_254-44916delTCTCTCTCTCTCTC	GFOD1	ENSG00000145990.11	transcript	ENST00000379287.4	protein_coding	1/1			chr6	TogoVar
GFOD1_chr6_13352830_13492600	13458757	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp1 HG02071.hp2 others(13): Show HG01109.hp2 HG01884.hp1 HG02071.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02922.hp2 HG03098.hp2 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03579.hp2 NA18986.hp2 NA19003.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0009 a0001c0001t0022 a0001c0001t0063 others(10): Show a0001c0001t0009 a0001c0001t0022 a0001c0001t0063 a0001c0001t0064 a0001c0001t0083 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0113 a0001c0001t0134 a0001c0002t0058 a0001c0002t0108 a0001c0003t0025	a0001c0001t0009g0176 a0001c0001t0009g0190 a0001c0001t0009g0196 others(13): Show a0001c0001t0009g0176 a0001c0001t0009g0190 a0001c0001t0009g0196 a0001c0001t0022g0069 a0001c0001t0063g0120 a0001c0001t0064g0070 a0001c0001t0083g0122 a0001c0001t0109g0194 a0001c0001t0110g0178 a0001c0001t0111g0193 a0001c0001t0113g0174 a0001c0001t0134g0227 a0001c0002t0058g0055 a0001c0002t0108g0197 a0001c0003t0025g0188 a0001c0003t0025g0195	16	230	0.0696	-14	c.253 others(33): Show c.253+27867_253+27880delTTTTTTTTTTTTTT	GFOD1	ENSG00000145990.11	transcript	ENST00000379287.4	protein_coding	1/1			chr6	TogoVar
GFOD1_chr6_13352830_13492600	13464861	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02056.hp1 HG02056.hp2 others(15): Show HG01109.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG03195.hp2 HG03453.hp2 HG03486.hp2 HG03688.hp2 HG04204.hp1 NA18964.hp2 NA18986.hp2 NA18998.hp1 NA19003.hp1 NA19070.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(12): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 a0001c0001t0030 a0001c0001t0083 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0113 a0001c0001t0120 a0001c0001t0132 a0001c0002t0108 a0001c0003t0025 a0001c0005t0013	a0001c0001t0002g0096 a0001c0001t0002g0126 a0001c0001t0003g0207 others(15): Show a0001c0001t0002g0096 a0001c0001t0002g0126 a0001c0001t0003g0207 a0001c0001t0009g0190 a0001c0001t0009g0196 a0001c0001t0010g0214 a0001c0001t0030g0215 a0001c0001t0083g0122 a0001c0001t0109g0194 a0001c0001t0110g0178 a0001c0001t0111g0193 a0001c0001t0113g0174 a0001c0001t0120g0187 a0001c0001t0132g0219 a0001c0002t0108g0197 a0001c0003t0025g0188 a0001c0003t0025g0195 a0001c0005t0013g0134	18	230	0.0783	-14	c.253 others(33): Show c.253+21763_253+21776delACACACACACACAC	GFOD1	ENSG00000145990.11	transcript	ENST00000379287.4	protein_coding	1/1			chr6	TogoVar
GFOD1_chr6_13352830_13492600	13481558	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00642.hp2 others(112): Show HG00140.hp1 HG00323.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp2 HG01516.hp2 HG01884.hp1 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02055.hp2 HG02056.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02145.hp2 HG02300.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG03098.hp1 HG03130.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03540.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18747.hp2 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18969.hp1 NA18977.hp1 NA18979.hp2 NA18984.hp1 NA18986.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19003.hp2 NA19005.hp2 NA19043.hp1 NA19043.hp2 NA19062.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19084.hp2 NA19088.hp2 NA19090.hp1 NA19240.hp2 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(63): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0031 a0001c0001t0050 a0001c0001t0054 a0001c0001t0057 a0001c0001t0059 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0068 a0001c0001t0069 a0001c0001t0071 a0001c0001t0072 a0001c0001t0074 a0001c0001t0075 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0117 a0001c0001t0142 a0001c0001t0143 a0001c0002t0008 a0001c0002t0056 a0001c0002t0060 a0001c0003t0055 a0001c0005t0013	a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 others(112): Show a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0088 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0128 a0001c0001t0001g0133 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0002g0063 a0001c0001t0002g0079 a0001c0001t0002g0085 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0104 a0001c0001t0002g0115 a0001c0001t0002g0126 a0001c0001t0002g0138 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0005g0103 a0001c0001t0005g0123 a0001c0001t0005g0130 a0001c0001t0005g0137 a0001c0001t0006g0051 a0001c0001t0006g0053 a0001c0001t0006g0158 a0001c0001t0006g0160 a0001c0001t0006g0162 a0001c0001t0007g0080 a0001c0001t0007g0081 a0001c0001t0007g0107 a0001c0001t0007g0147 a0001c0001t0012g0040 a0001c0001t0012g0041 a0001c0001t0012g0042 a0001c0001t0013g0089 a0001c0001t0014g0075 a0001c0001t0014g0084 a0001c0001t0014g0098 a0001c0001t0020g0083 a0001c0001t0020g0111 a0001c0001t0021g0048 a0001c0001t0021g0163 a0001c0001t0022g0069 a0001c0001t0022g0127 a0001c0001t0023g0047 a0001c0001t0023g0136 a0001c0001t0024g0101 a0001c0001t0031g0001 a0001c0001t0050g0039 a0001c0001t0054g0043 a0001c0001t0057g0064 a0001c0001t0059g0066 a0001c0001t0061g0156 a0001c0001t0062g0077 a0001c0001t0063g0120 a0001c0001t0064g0070 a0001c0001t0065g0058 a0001c0001t0066g0046 a0001c0001t0068g0118 a0001c0001t0069g0151 a0001c0001t0071g0119 a0001c0001t0072g0135 a0001c0001t0074g0131 a0001c0001t0075g0164 a0001c0001t0077g0086 a0001c0001t0078g0097 a0001c0001t0079g0045 a0001c0001t0080g0071 a0001c0001t0081g0102 a0001c0001t0082g0110 a0001c0001t0083g0122 a0001c0001t0084g0054 a0001c0001t0086g0044 a0001c0001t0087g0154 a0001c0001t0088g0065 a0001c0001t0089g0155 a0001c0001t0091g0092 a0001c0001t0092g0121 a0001c0001t0093g0087 a0001c0001t0094g0129 a0001c0001t0095g0124 a0001c0001t0096g0050 a0001c0001t0097g0152 a0001c0001t0098g0114 a0001c0001t0099g0125 a0001c0001t0100g0116 a0001c0001t0101g0117 a0001c0001t0102g0090 a0001c0001t0103g0153 a0001c0001t0104g0105 a0001c0001t0105g0091 a0001c0001t0106g0106 a0001c0001t0117g0173 a0001c0001t0142g0229 a0001c0001t0143g0230 a0001c0002t0008g0052 a0001c0002t0008g0060 a0001c0002t0008g0067 a0001c0002t0008g0068 a0001c0002t0056g0072 a0001c0002t0060g0112 a0001c0003t0055g0161 a0001c0005t0013g0132 a0001c0005t0013g0134	115	230	0.5000	-14	c.253 others(31): Show c.253+5066_253+5079delGTGTGTGTGTGTGT	GFOD1	ENSG00000145990.11	transcript	ENST00000379287.4	protein_coding	1/1			chr6	TogoVar
GFPT1_chr2_69314780_69392227	69384764	GAAGAAAG others(7): Show GAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0247 a0001c0001t0034g0247	1	366	0.0027	-14	c.7+2 others(27): Show c.7+2287_7+2300delTTTCTTTCTTTCTT	GFPT1	ENSG00000198380.13	transcript	ENST00000357308.9	protein_coding	1/19			chr2	TogoVar
GFPT2_chr5_180295698_180358336	180296746	AACACACA others(7): Show AACACACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0002 a0001c0021t0002	a0001c0021t0002g0271 a0001c0021t0002g0271	1	412	0.0024	-14	c.48 others(25): Show c.4804_*4817delGTGTGTGTGTGTGT	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3951		chr5	TogoVar
GFPT2_chr5_180295698_180358336	180321783	TTTTGTTT others(7): Show TTTTGTTTTGTTTTG	T T	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0012 a0003c0006t0012	a0003c0006t0012g0173 a0003c0006t0012g0173	1	412	0.0024	-14	c.794 others(31): Show c.794+2391_794+2404delCAAAACAAAACAAA	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding	9/18			chr5	TogoVar
GFRA1_chr10_116051925_116278206	116057990	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02040.hp2 HG02055.hp1 HG02451.hp1 others(3): Show HG02040.hp2 HG02055.hp1 HG02451.hp1 HG02717.hp2 HG02886.hp1 HG02970.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0006	a0001c0001t0096 a0001c0002t0023 a0001c0002t0083 others(2): Show a0001c0001t0096 a0001c0002t0023 a0001c0002t0083 a0002c0003t0034 a0003c0006t0023	a0001c0001t0096g0059 a0001c0002t0023g0075 a0001c0002t0083g0015 others(3): Show a0001c0001t0096g0059 a0001c0002t0023g0075 a0001c0002t0083g0015 a0002c0003t0034g0001 a0002c0003t0034g0040 a0003c0006t0023g0048	6	214	0.0280	-14	c.63 others(25): Show c.6394_*6407delCACACACACACACA	GFRA1	ENSG00000151892.16	transcript	ENST00000355422.11	protein_coding	11/11	6394		chr10	TogoVar
GFRA1_chr10_116051925_116278206	116084761	AACACACA others(7): Show AACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00741.hp2 HG01261.hp2 others(9): Show HG00280.hp2 HG00741.hp2 HG01261.hp2 HG02056.hp1 HG02109.hp1 HG02622.hp1 HG02630.hp1 HG02922.hp1 HG02922.hp2 HG03471.hp1 NA19000.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0074 a0001c0002t0002 a0001c0002t0003 a0001c0002t0067 a0001c0002t0091 a0002c0003t0001 a0002c0003t0062	a0001c0001t0001g0091 a0001c0001t0001g0102 a0001c0001t0002g0159 others(9): Show a0001c0001t0001g0091 a0001c0001t0001g0102 a0001c0001t0002g0159 a0001c0001t0002g0164 a0001c0001t0011g0152 a0001c0001t0074g0161 a0001c0002t0002g0013 a0001c0002t0003g0188 a0001c0002t0067g0200 a0001c0002t0091g0006 a0002c0003t0001g0133 a0002c0003t0062g0190	12	214	0.0561	-14	c.119 others(33): Show c.1197+4966_1197+4979delGTGTGTGTGTGTGT	GFRA1	ENSG00000151892.16	transcript	ENST00000355422.11	protein_coding	9/10			chr10	TogoVar
GFRA1_chr10_116051925_116278206	116092096	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	214	0.0047	-14	c.101 others(33): Show c.1015+1592_1015+1605delGTGTGTGTGTGTGT	GFRA1	ENSG00000151892.16	transcript	ENST00000355422.11	protein_coding	8/10			chr10	TogoVar
GFRA1_chr10_116051925_116278206	116148030	ATGTGTGC others(7): Show ATGTGTGCATGTGCG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 NA18968.hp1 others(6): Show HG00408.hp1 HG00408.hp2 NA18968.hp1 NA18993.hp2 NA18995.hp1 NA19011.hp1 NA19077.hp1 NA19077.hp2 NA19084.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 others(4): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0057 a0001c0001t0107 a0002c0003t0005 a0002c0003t0008	a0001c0001t0004g0123 a0001c0001t0006g0130 a0001c0001t0007g0008 others(6): Show a0001c0001t0004g0123 a0001c0001t0006g0130 a0001c0001t0007g0008 a0001c0001t0007g0021 a0001c0001t0007g0025 a0001c0001t0057g0189 a0001c0001t0107g0109 a0002c0003t0005g0098 a0002c0003t0008g0023	9	214	0.0421	-14	c.434 others(33): Show c.434-22487_434-22474delCGCACATGCACACA	GFRA1	ENSG00000151892.16	transcript	ENST00000355422.11	protein_coding	5/10			chr10	TogoVar
GFRA1_chr10_116051925_116278206	116166801	TTTTTTTT others(7): Show TTTTTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02630.hp1 HG02818.hp2 others(1): Show HG01109.hp1 HG02630.hp1 HG02818.hp2 HG02896.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0069 a0001c0001t0090 others(1): Show a0001c0001t0001 a0001c0001t0069 a0001c0001t0090 a0002c0003t0001	a0001c0001t0001g0041 a0001c0001t0069g0202 a0001c0001t0090g0007 others(1): Show a0001c0001t0001g0041 a0001c0001t0069g0202 a0001c0001t0090g0007 a0002c0003t0001g0133	4	214	0.0187	-14	c.434 others(33): Show c.434-41258_434-41245delCAAAAAAAAAAAAA	GFRA1	ENSG00000151892.16	transcript	ENST00000355422.11	protein_coding	5/10			chr10	TogoVar
GFRA1_chr10_116051925_116278206	116205592	AAAAGATA others(7): Show AAAAGATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00438.hp2 others(68): Show HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00621.hp2 HG00642.hp1 HG00673.hp2 HG00735.hp2 HG01109.hp2 HG01168.hp1 HG01243.hp2 HG01257.hp2 HG01346.hp2 HG01358.hp1 HG01516.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02083.hp2 HG02109.hp1 HG02132.hp2 HG02145.hp1 HG02257.hp2 HG02451.hp1 HG02451.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02717.hp2 HG02723.hp2 HG02818.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03492.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG04115.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18957.hp1 NA18968.hp1 NA18969.hp2 NA18975.hp2 NA18989.hp2 NA18993.hp2 NA18995.hp2 NA19009.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19065.hp2 NA19074.hp1 NA19240.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0005 others(7): Show a0001c0001 a0001c0002 a0001c0005 a0001c0012 a0001c0013 a0002c0003 a0002c0004 a0002c0014 a0003c0006 a0003c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(61): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0037 a0001c0001t0038 a0001c0001t0043 a0001c0001t0049 a0001c0001t0060 a0001c0001t0064 a0001c0001t0066 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0074 a0001c0001t0075 a0001c0001t0080 a0001c0001t0097 a0001c0001t0103 a0001c0001t0107 a0001c0001t0111 a0001c0001t0114 a0001c0001t0120 a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0002t0016 a0001c0002t0017 a0001c0002t0018 a0001c0002t0021 a0001c0002t0023 a0001c0002t0024 a0001c0002t0026 a0001c0002t0027 a0001c0002t0033 a0001c0002t0058 a0001c0002t0063 a0001c0002t0082 a0001c0002t0091 a0001c0002t0129 a0001c0005t0050 a0001c0012t0009 a0001c0013t0005 a0002c0003t0004 a0002c0003t0005 a0002c0003t0011 a0002c0003t0019 a0002c0003t0034 a0002c0003t0108 a0002c0004t0025 a0002c0004t0110 a0002c0014t0088 a0003c0006t0001 a0003c0006t0023 a0003c0006t0093 a0003c0015t0094	a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0108 others(68): Show a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0108 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0004g0123 a0001c0001t0008g0020 a0001c0001t0008g0031 a0001c0001t0011g0152 a0001c0001t0013g0143 a0001c0001t0014g0147 a0001c0001t0015g0184 a0001c0001t0029g0083 a0001c0001t0031g0134 a0001c0001t0032g0085 a0001c0001t0033g0092 a0001c0001t0037g0137 a0001c0001t0038g0151 a0001c0001t0043g0206 a0001c0001t0049g0148 a0001c0001t0060g0144 a0001c0001t0064g0154 a0001c0001t0066g0192 a0001c0001t0070g0167 a0001c0001t0071g0010 a0001c0001t0072g0162 a0001c0001t0074g0161 a0001c0001t0075g0165 a0001c0001t0080g0170 a0001c0001t0097g0118 a0001c0001t0103g0104 a0001c0001t0107g0109 a0001c0001t0111g0114 a0001c0001t0114g0095 a0001c0001t0120g0096 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0112 a0001c0002t0003g0141 a0001c0002t0006g0053 a0001c0002t0016g0150 a0001c0002t0017g0191 a0001c0002t0018g0149 a0001c0002t0021g0036 a0001c0002t0023g0075 a0001c0002t0024g0126 a0001c0002t0026g0110 a0001c0002t0027g0116 a0001c0002t0033g0044 a0001c0002t0058g0213 a0001c0002t0063g0142 a0001c0002t0082g0009 a0001c0002t0091g0006 a0001c0002t0129g0051 a0001c0005t0050g0176 a0001c0012t0009g0168 a0001c0013t0005g0062 a0002c0003t0004g0082 a0002c0003t0005g0098 a0002c0003t0011g0178 a0002c0003t0019g0135 a0002c0003t0019g0136 a0002c0003t0034g0040 a0002c0003t0108g0072 a0002c0004t0025g0124 a0002c0004t0110g0117 a0002c0014t0088g0011 a0003c0006t0001g0047 a0003c0006t0023g0048 a0003c0006t0093g0045 a0003c0015t0094g0046	71	214	0.3318	-14	c.433 others(31): Show c.433+6025_433+6038delATATATATATCTTT	GFRA1	ENSG00000151892.16	transcript	ENST00000355422.11	protein_coding	5/10			chr10	TogoVar
GFRA1_chr10_116051925_116278206	116205596	GATATATA others(7): Show GATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01168.hp2 HG01169.hp1 others(38): Show HG00408.hp1 HG01168.hp2 HG01169.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01993.hp2 HG02027.hp2 HG02055.hp1 HG02083.hp1 HG02132.hp1 HG02135.hp2 HG02155.hp1 HG02630.hp2 HG02723.hp1 HG02818.hp2 HG02965.hp2 HG02970.hp1 HG03209.hp1 HG03453.hp2 HG03490.hp1 HG03492.hp2 HG03688.hp2 HG03710.hp2 NA18941.hp1 NA18959.hp2 NA18960.hp1 NA18984.hp2 NA18993.hp1 NA18995.hp1 NA19000.hp1 NA19064.hp2 NA19065.hp1 NA19074.hp2 NA19077.hp1 NA19083.hp1 NA19084.hp1 NA19240.hp1 NA20129.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0007	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0002c0004 a0005c0009 a0007c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(36): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0020 a0001c0001t0025 a0001c0001t0042 a0001c0001t0044 a0001c0001t0087 a0001c0001t0098 a0001c0001t0100 a0001c0001t0105 a0001c0001t0106 a0001c0001t0124 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0002t0009 a0001c0002t0010 a0001c0002t0012 a0001c0002t0073 a0001c0002t0076 a0001c0002t0079 a0001c0002t0081 a0001c0002t0083 a0001c0002t0085 a0001c0002t0089 a0001c0002t0113 a0001c0005t0133 a0002c0003t0008 a0002c0003t0039 a0002c0003t0077 a0002c0003t0104 a0002c0004t0084 a0005c0009t0086 a0007c0007t0002	a0001c0001t0001g0041 a0001c0001t0002g0029 a0001c0001t0004g0079 others(38): Show a0001c0001t0001g0041 a0001c0001t0002g0029 a0001c0001t0004g0079 a0001c0001t0006g0130 a0001c0001t0007g0021 a0001c0001t0007g0025 a0001c0001t0008g0035 a0001c0001t0020g0016 a0001c0001t0025g0119 a0001c0001t0042g0205 a0001c0001t0044g0209 a0001c0001t0087g0017 a0001c0001t0098g0043 a0001c0001t0100g0122 a0001c0001t0105g0042 a0001c0001t0106g0113 a0001c0001t0124g0115 a0001c0002t0001g0039 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0003g0177 a0001c0002t0007g0022 a0001c0002t0009g0024 a0001c0002t0010g0180 a0001c0002t0012g0208 a0001c0002t0073g0034 a0001c0002t0076g0038 a0001c0002t0079g0014 a0001c0002t0081g0012 a0001c0002t0083g0015 a0001c0002t0085g0019 a0001c0002t0089g0033 a0001c0002t0113g0060 a0001c0005t0133g0214 a0002c0003t0008g0023 a0002c0003t0039g0207 a0002c0003t0077g0018 a0002c0003t0104g0069 a0002c0004t0084g0032 a0005c0009t0086g0005 a0007c0007t0002g0003	41	214	0.1916	-14	c.433 others(31): Show c.433+6021_433+6034delATATATATATATAT	GFRA1	ENSG00000151892.16	transcript	ENST00000355422.11	protein_coding	5/10			chr10	TogoVar
GFRA1_chr10_116051925_116278206	116212523	AACACACA others(7): Show AACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0065 a0001c0002t0065	a0001c0002t0065g0201 a0001c0002t0065g0201	1	214	0.0047	-14	c.419 others(29): Show c.419-892_419-879delGTGTGTGTGTGTGT	GFRA1	ENSG00000151892.16	transcript	ENST00000355422.11	protein_coding	4/10			chr10	TogoVar
GFRA1_chr10_116051925_116278206	116212590	AAGCAGTC others(7): Show AAGCAGTCACTAACT	A A	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0080 a0001c0001t0030g0080	1	214	0.0047	-14	c.419 others(29): Show c.419-959_419-946delAGTTAGTGACTGCT	GFRA1	ENSG00000151892.16	transcript	ENST00000355422.11	protein_coding	4/10			chr10	TogoVar
GFRA1_chr10_116051925_116278206	116273671	GTCTCTCT others(7): Show GTCTCTCTCTCTCTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00741.hp2 HG01261.hp2 others(33): Show HG00423.hp2 HG00741.hp2 HG01261.hp2 HG01516.hp1 HG01981.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02083.hp1 HG02132.hp2 HG02135.hp1 HG02257.hp1 HG02293.hp1 HG02723.hp1 HG02895.hp2 HG02896.hp2 HG02965.hp2 HG03195.hp2 HG03453.hp2 HG03579.hp1 HG03710.hp2 NA18960.hp2 NA18962.hp1 NA18968.hp2 NA18969.hp1 NA18975.hp1 NA18984.hp1 NA18995.hp2 NA19009.hp1 NA19070.hp1 NA19077.hp2 NA19083.hp1 NA19083.hp2 NA19087.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0002c0004	a0001c0001t0003 a0001c0001t0010 a0001c0001t0013 others(28): Show a0001c0001t0003 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0051 a0001c0001t0052 a0001c0001t0057 a0001c0001t0066 a0001c0001t0069 a0001c0002t0003 a0001c0002t0010 a0001c0002t0011 a0001c0002t0012 a0001c0002t0014 a0001c0002t0017 a0001c0002t0055 a0001c0002t0056 a0001c0002t0058 a0001c0002t0065 a0001c0002t0067 a0001c0005t0133 a0002c0003t0011 a0002c0003t0012 a0002c0003t0039 a0002c0003t0062 a0002c0004t0054 a0002c0004t0061	a0001c0001t0003g0204 a0001c0001t0010g0179 a0001c0001t0010g0185 others(33): Show a0001c0001t0003g0204 a0001c0001t0010g0179 a0001c0001t0010g0185 a0001c0001t0013g0194 a0001c0001t0015g0181 a0001c0001t0015g0184 a0001c0001t0017g0211 a0001c0001t0042g0205 a0001c0001t0043g0206 a0001c0001t0044g0209 a0001c0001t0051g0203 a0001c0001t0052g0195 a0001c0001t0057g0189 a0001c0001t0066g0192 a0001c0001t0069g0202 a0001c0002t0003g0177 a0001c0002t0003g0186 a0001c0002t0003g0188 a0001c0002t0003g0212 a0001c0002t0010g0180 a0001c0002t0011g0199 a0001c0002t0012g0208 a0001c0002t0014g0196 a0001c0002t0017g0191 a0001c0002t0055g0198 a0001c0002t0056g0197 a0001c0002t0058g0213 a0001c0002t0065g0201 a0001c0002t0067g0200 a0001c0005t0133g0214 a0002c0003t0011g0178 a0002c0003t0012g0193 a0002c0003t0039g0207 a0002c0003t0062g0190 a0002c0004t0054g0210 a0002c0004t0061g0187	36	214	0.1682	-14	c.-76 others(23): Show c.-769_-756delGAGAGAGAGAGAGA	GFRA1	ENSG00000151892.16	transcript	ENST00000355422.11	protein_coding		466		chr10	TogoVar
GFRA2_chr8_21685398_21793875	21715880	GGAGAGAG others(7): Show GGAGAGAGAGAGAAC	G G	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0123 a0002c0002t0002g0123	1	322	0.0031	-14	c.795 others(31): Show c.795-9853_795-9840delGTTCTCTCTCTCTC	GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	4/8			chr8	TogoVar
GFRA2_chr8_21685398_21793875	21738182	TCCTCCTC others(7): Show TCCTCCTCCTCCCCC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00597.hp2 HG00735.hp2 others(42): Show HG00323.hp1 HG00597.hp2 HG00735.hp2 HG01255.hp2 HG01258.hp2 HG01358.hp2 HG01433.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01993.hp2 HG02040.hp1 HG02074.hp1 HG02132.hp2 HG02293.hp2 HG02300.hp2 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG02965.hp2 HG03195.hp2 HG03239.hp2 HG03453.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03669.hp1 HG04228.hp1 NA18906.hp1 NA18942.hp1 NA18944.hp1 NA18961.hp2 NA18971.hp1 NA18974.hp1 NA18994.hp2 NA18995.hp2 NA19005.hp2 NA19012.hp1 NA19060.hp2 NA19066.hp1 NA19070.hp2 NA19240.hp2 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0003 a0001c0006 others(4): Show a0001c0001 a0001c0003 a0001c0006 a0002c0002 a0002c0005 a0003c0008 a0006c0029	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(16): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0025 a0001c0001t0030 a0001c0001t0042 a0001c0003t0001 a0001c0003t0021 a0001c0006t0007 a0001c0006t0009 a0002c0002t0002 a0002c0002t0003 a0002c0005t0002 a0002c0005t0003 a0003c0008t0012 a0003c0008t0014 a0006c0029t0001	a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0064 others(42): Show a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0064 a0001c0001t0001g0092 a0001c0001t0001g0099 a0001c0001t0001g0117 a0001c0001t0001g0145 a0001c0001t0004g0244 a0001c0001t0004g0245 a0001c0001t0004g0296 a0001c0001t0005g0284 a0001c0001t0006g0100 a0001c0001t0006g0142 a0001c0001t0008g0285 a0001c0001t0025g0001 a0001c0001t0030g0077 a0001c0001t0042g0268 a0001c0003t0001g0050 a0001c0003t0021g0044 a0001c0006t0007g0033 a0001c0006t0009g0233 a0001c0006t0009g0305 a0002c0002t0002g0035 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0082 a0002c0002t0002g0115 a0002c0002t0002g0151 a0002c0002t0002g0162 a0002c0002t0003g0250 a0002c0002t0003g0260 a0002c0002t0003g0261 a0002c0002t0003g0262 a0002c0002t0003g0275 a0002c0002t0003g0280 a0002c0002t0003g0282 a0002c0002t0003g0286 a0002c0002t0003g0288 a0002c0002t0003g0297 a0002c0005t0002g0048 a0002c0005t0003g0183 a0003c0008t0012g0289 a0003c0008t0014g0101 a0003c0008t0014g0135 a0006c0029t0001g0059	45	322	0.1398	-14	c.794 others(33): Show c.794+12392_794+12405delGGGGGAGGAGGAGG	GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	4/8			chr8	TogoVar
GFRA2_chr8_21685398_21793875	21763950	AACACACA others(7): Show AACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01361.hp1 HG02004.hp1 others(19): Show HG00597.hp2 HG01361.hp1 HG02004.hp1 HG02027.hp2 HG02109.hp2 HG02280.hp2 HG02293.hp1 HG02622.hp1 HG02683.hp1 HG02886.hp2 HG02895.hp2 HG02965.hp2 HG03017.hp2 HG03209.hp2 HG03239.hp1 HG03471.hp2 HG03540.hp1 HG03927.hp2 NA18979.hp2 NA19005.hp2 NA19010.hp2 NA19043.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0003 a0001c0004 others(7): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0019 a0001c0022 a0002c0002 a0002c0016 a0004c0009 a0005c0013	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(15): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0019 a0001c0001t0020 a0001c0001t0035 a0001c0003t0001 a0001c0003t0021 a0001c0004t0004 a0001c0004t0013 a0001c0006t0009 a0001c0019t0020 a0001c0022t0007 a0002c0002t0002 a0002c0002t0017 a0002c0016t0003 a0004c0009t0039 a0005c0013t0003	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0090 others(19): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0090 a0001c0001t0006g0158 a0001c0001t0008g0252 a0001c0001t0019g0025 a0001c0001t0020g0307 a0001c0001t0020g0309 a0001c0001t0035g0113 a0001c0003t0001g0170 a0001c0003t0021g0044 a0001c0004t0004g0249 a0001c0004t0013g0232 a0001c0006t0009g0305 a0001c0019t0020g0310 a0001c0022t0007g0020 a0002c0002t0002g0079 a0002c0002t0002g0125 a0002c0002t0017g0107 a0002c0016t0003g0272 a0004c0009t0039g0188 a0005c0013t0003g0201	22	322	0.0683	-14	c.439 others(33): Show c.439+11008_439+11021delGTGTGTGTGTGTGT	GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	3/8			chr8	TogoVar
GFRA2_chr8_21685398_21793875	21775989	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02683.hp1 HG02602.hp1 HG02683.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0011 a0002c0002t0002g0131 a0001c0001t0001g0011 a0002c0002t0002g0131	2	322	0.0062	-14	c.356 others(29): Show c.356-948_356-935delCACACACACACACA	GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	2/8			chr8	TogoVar
GFRA3_chr5_138247380_138279621	138269551	AAAAAACA others(7): Show AAAAAACAACAAGCC	A A	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	376	0.0027	-14	c.91+ others(29): Show c.91+4769_91+4782delGGCTTGTTGTTTTT	GFRA3	ENSG00000146013.11	transcript	ENST00000274721.8	protein_coding	1/7			chr5	TogoVar
GGA2_chr16_23458542_23515494	23467387	AACACACA others(7): Show AACACACACACACAC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0074 a0001c0001t0066g0074	1	254	0.0039	-14	c.18 others(23): Show c.189_*202delGTGTGTGTGTGTGT	GGA2	ENSG00000103365.15	transcript	ENST00000309859.8	protein_coding	17/17	189		chr16	TogoVar
GGA2_chr16_23458542_23515494	23510906	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0041 a0002c0002t0011g0041	1	254	0.0039	-14	c.-50 others(23): Show c.-509_-496delACACACACACACAC	GGA2	ENSG00000103365.15	transcript	ENST00000309859.8	protein_coding		413		chr16	TogoVar
GGA3_chr17_75231599_75266606	75237915	ACTCCCAC others(7): Show ACTCCCACCCCCCAC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02451.hp2 HG02572.hp1 HG02723.hp2 others(5): Show HG02451.hp2 HG02572.hp1 HG02723.hp2 HG02922.hp2 HG03041.hp1 HG03516.hp2 NA18906.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0009 a0001c0001t0004g0231 a0001c0001t0004g0233 others(2): Show a0001c0001t0004g0009 a0001c0001t0004g0231 a0001c0001t0004g0233 a0001c0001t0004g0234 a0001c0001t0004g0235	8	364	0.0220	-14	c.35 others(23): Show c.350_*363delGTGGGGGGTGGGAG	GGA3	ENSG00000125447.18	transcript	ENST00000537686.6	protein_coding	17/17	350		chr17	TogoVar
GGACT_chr13_100525180_100593789	100550299	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03130.hp1 HG03225.hp2 others(6): Show HG01243.hp1 HG03130.hp1 HG03225.hp2 NA18941.hp2 NA18960.hp1 NA18961.hp2 NA18974.hp2 NA19080.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0001 a0001c0001t0002 a0001c0001t0010	a0001c0001t0001g0053 a0001c0001t0001g0121 a0001c0001t0001g0124 others(6): Show a0001c0001t0001g0053 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0130 a0001c0001t0001g0151 a0001c0001t0001g0283 a0001c0001t0001g0352 a0001c0001t0002g0222 a0001c0001t0010g0350	9	376	0.0239	-14	c.-10 others(33): Show c.-10-17712_-10-17699delGTGTGTGTGTGTGT	GGACT	ENSG00000134864.11	transcript	ENST00000683975.1	protein_coding	2/2			chr13	TogoVar
GGACT_chr13_100525180_100593789	100550417	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03225.hp2 NA19030.hp2 HG02257.hp2 HG03225.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0348 a0001c0001t0010g0349 a0001c0001t0010g0350 a0001c0001t0010g0348 a0001c0001t0010g0349 a0001c0001t0010g0350	3	376	0.0080	-14	c.-10 others(33): Show c.-10-17830_-10-17817delGTGTGTGTGTGTGT	GGACT	ENSG00000134864.11	transcript	ENST00000683975.1	protein_coding	2/2			chr13	TogoVar
GGCT_chr7_30491621_30509829	30502176	ATGCAAGA others(7): Show ATGCAAGAACTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0087 a0001c0001t0004g0087	1	444	0.0023	-14	c.142 others(31): Show c.142-1509_142-1496delAAAAAGTTCTTGCA	GGCT	ENSG00000006625.18	transcript	ENST00000275428.9	protein_coding	1/3			chr7	TogoVar
GGH_chr8_63010079_63043806	63014867	CACACACA others(7): Show CACACACATACCTAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	426	0.0024	-14	c.45 others(23): Show c.451_*464delATAGGTATGTGTGT	GGH	ENSG00000137563.13	transcript	ENST00000260118.7	protein_coding		211		chr8	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)