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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⚠️ 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
ADARB2_chr10_1172313_1742525	1239861	CCCCTCTC others(88): Show CCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTCACTCC CCTCTCCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACT	C C	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0014 a0005c0015t0014	a0005c0015t0014g0008 a0005c0015t0014g0008	1	106	0.0094	-95	c.136 others(114): Show c.1361+2175_1361+2269delAGTAAACACCGGGAGGCAGAGGGGAG TGAACACCGGGAGGGAGAGGGGAGTGAACACCGGGAGGGAGAGGGGAGTA AACACCGGGAGGGAGAGGG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1239885	CCCCTCTC others(88): Show CCCCTCTCCCTCCCGGTGTTCACTCCCCTCTCCCTCCCGGTGTTCACTCC CCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACT	C C	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0067 a0002c0002t0002g0067	1	106	0.0094	-95	c.136 others(114): Show c.1361+2151_1361+2245delAGTGAACACCGGGAGGCAGAGGGGAG TAAACACCGGGAGGCAGAGGGGAGTGAACACCGGGAGGGAGAGGGGAGTG AACACCGGGAGGGAGAGGG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADGRD1_chr12_130948907_131146469	131036642	CGGGGCCT others(88): Show CGGGGCCTCACTCACTGCACGGGGCCTCACTCAGTACACCGGGCCTCACT CACTGCACCGGGCCTCACTCACCGCACCGGGCCTCACTCACTGCAT	C C	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA18974.hp2 NA19082.hp1 HG02155.hp2 NA18974.hp2 NA19082.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0199 a0001c0002t0003g0020 a0001c0002t0003g0057 a0001c0002t0001g0199 a0001c0002t0003g0020 a0001c0002t0003g0057	3	242	0.0124	-95	c.147 others(116): Show c.1473+22322_1473+22416delGGGGCCTCACTCAGTACACCGGGC CTCACTCACTGCACCGGGCCTCACTCACCGCACCGGGCCTCACTCACTGC ATGGGGCCTCACTCACTGCAC	ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
AK5_chr1_77277019_77564966	77444289	TGTATATA others(88): Show TGTATATATATAGTATATATACACAATATATGTGTATATATATAGTATAT ATACACAATATATGTGTATATATAGTATAAATATATACTATATATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG01099.hp2 others(14): Show HG00099.hp2 HG00639.hp1 HG01099.hp2 HG01256.hp2 HG01346.hp2 HG01928.hp2 HG01934.hp2 HG01978.hp2 HG01981.hp1 HG02559.hp1 HG02965.hp1 HG03098.hp1 HG03490.hp2 HG03492.hp2 HG03669.hp2 HG04204.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0003t0004	a0001c0001t0001g0283 a0001c0001t0004g0022 a0001c0001t0004g0029 others(14): Show a0001c0001t0001g0283 a0001c0001t0004g0022 a0001c0001t0004g0029 a0001c0001t0004g0031 a0001c0001t0004g0034 a0001c0001t0004g0035 a0001c0001t0004g0044 a0001c0001t0004g0056 a0001c0001t0004g0085 a0001c0001t0004g0093 a0001c0001t0004g0206 a0001c0001t0006g0144 a0001c0001t0006g0145 a0001c0001t0006g0146 a0001c0001t0006g0230 a0001c0001t0006g0233 a0001c0003t0004g0257	17	284	0.0599	-95	c.105 others(116): Show c.1059+26584_1059+26678delTAGTATATATACACAATATATGTG TATATATATAGTATATATACACAATATATGTGTATATATAGTATAAATAT ATACTATATATAGTATATATA	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AKAP13_chr15_85375603_85754355	85559654	CGCAGTTC others(88): Show CGCAGTTCACGATAGGGTTCACGCTCCTGTGAGAATCTAGTGCCACCGTT GATCCGACAGGAGGCGGAATTCAGGTGGTAATGCAAGCAGTGGGGA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00558.hp1 others(69): Show HG00408.hp1 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG01074.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01515.hp2 HG01517.hp2 HG01891.hp1 HG02015.hp2 HG02071.hp1 HG02080.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02148.hp2 HG02572.hp2 HG02615.hp2 HG02738.hp1 HG03017.hp1 HG03195.hp1 HG03209.hp2 HG03239.hp2 HG03492.hp2 HG03688.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04228.hp2 NA18747.hp2 NA18906.hp1 NA18940.hp2 NA18944.hp2 NA18945.hp1 NA18948.hp1 NA18950.hp2 NA18956.hp2 NA18960.hp2 NA18963.hp2 NA18964.hp1 NA18971.hp1 NA18975.hp2 NA18977.hp1 NA18980.hp2 NA18982.hp1 NA18986.hp1 NA18991.hp2 NA18992.hp2 NA18994.hp1 NA18998.hp1 NA19003.hp2 NA19004.hp2 NA19009.hp2 NA19054.hp1 NA19056.hp1 NA19057.hp1 NA19064.hp2 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19074.hp2 NA19077.hp2 NA19081.hp2 NA19084.hp1 NA19091.hp1 NA19091.hp2 NA20905.hp1 NA21309.hp1	a0002 a0004 a0009 others(9): Show a0002 a0004 a0009 a0012 a0021 a0031 a0033 a0039 a0040 a0041 a0042 a0043	a0002c0001 a0002c0017 a0002c0028 others(13): Show a0002c0001 a0002c0017 a0002c0028 a0002c0035 a0004c0013 a0004c0021 a0009c0011 a0012c0015 a0021c0068 a0031c0034 a0033c0037 a0039c0061 a0040c0062 a0041c0066 a0042c0067 a0043c0069	a0002c0001t0002 a0002c0001t0007 a0002c0001t0021 others(24): Show a0002c0001t0002 a0002c0001t0007 a0002c0001t0021 a0002c0001t0035 a0002c0001t0037 a0002c0001t0042 a0002c0001t0044 a0002c0001t0045 a0002c0001t0048 a0002c0001t0060 a0002c0001t0073 a0002c0017t0002 a0002c0028t0046 a0002c0035t0002 a0004c0013t0003 a0004c0013t0049 a0004c0021t0031 a0009c0011t0043 a0012c0015t0017 a0021c0068t0081 a0031c0034t0007 a0033c0037t0010 a0039c0061t0002 a0040c0062t0013 a0041c0066t0029 a0042c0067t0029 a0043c0069t0002	a0002c0001t0002g0014 a0002c0001t0002g0020 a0002c0001t0002g0022 others(69): Show a0002c0001t0002g0014 a0002c0001t0002g0020 a0002c0001t0002g0022 a0002c0001t0002g0029 a0002c0001t0002g0030 a0002c0001t0002g0039 a0002c0001t0002g0041 a0002c0001t0002g0049 a0002c0001t0002g0054 a0002c0001t0002g0068 a0002c0001t0002g0144 a0002c0001t0002g0153 a0002c0001t0002g0154 a0002c0001t0002g0155 a0002c0001t0002g0156 a0002c0001t0002g0159 a0002c0001t0002g0160 a0002c0001t0002g0168 a0002c0001t0002g0182 a0002c0001t0002g0185 a0002c0001t0002g0186 a0002c0001t0002g0187 a0002c0001t0002g0188 a0002c0001t0002g0189 a0002c0001t0002g0192 a0002c0001t0002g0224 a0002c0001t0002g0226 a0002c0001t0002g0238 a0002c0001t0002g0241 a0002c0001t0002g0261 a0002c0001t0002g0277 a0002c0001t0002g0313 a0002c0001t0007g0053 a0002c0001t0007g0176 a0002c0001t0007g0177 a0002c0001t0007g0184 a0002c0001t0007g0233 a0002c0001t0007g0235 a0002c0001t0007g0240 a0002c0001t0007g0258 a0002c0001t0021g0282 a0002c0001t0035g0171 a0002c0001t0037g0033 a0002c0001t0042g0239 a0002c0001t0044g0036 a0002c0001t0045g0190 a0002c0001t0048g0164 a0002c0001t0060g0055 a0002c0001t0073g0181 a0002c0017t0002g0161 a0002c0017t0002g0162 a0002c0017t0002g0167 a0002c0028t0046g0166 a0002c0035t0002g0312 a0004c0013t0003g0105 a0004c0013t0003g0218 a0004c0013t0049g0060 a0004c0021t0031g0174 a0004c0021t0031g0175 a0009c0011t0043g0132 a0012c0015t0017g0127 a0012c0015t0017g0195 a0012c0015t0017g0203 a0012c0015t0017g0242 a0021c0068t0081g0205 a0031c0034t0007g0191 a0033c0037t0010g0104 a0039c0061t0002g0255 a0040c0062t0013g0074 a0041c0066t0029g0237 a0042c0067t0029g0236 a0043c0069t0002g0253	72	314	0.2293	-95	c.663 others(114): Show c.663-15472_663-15378delTTCACGATAGGGTTCACGCTCCTGTG AGAATCTAGTGCCACCGTTGATCCGACAGGAGGCGGAATTCAGGTGGTAA TGCAAGCAGTGGGGAGCAG	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr15	TogoVar
AKAP17A_chrX_1586604_1607520	1587676	CTCTCCCT others(88): Show CTCTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCCCTTCCCCTCCCTTC CCCTCCCCTCCTCTCCCCTCCCTTCCCCTCCCTTCCCCTCCCCTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02809.hp1 HG02922.hp2 others(1): Show HG02723.hp2 HG02809.hp1 HG02922.hp2 HG03540.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0022 a0001c0001 a0003c0022	a0001c0001t0001 a0003c0022t0003 a0001c0001t0001 a0003c0022t0003	a0001c0001t0001g0012 a0001c0001t0001g0111 a0003c0022t0003g0110 a0001c0001t0001g0012 a0001c0001t0001g0111 a0003c0022t0003g0110	4	151	0.0265	-95	c.-41 others(106): Show c.-4112_-4018delTCTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTC CCTTCCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTTCCCCTCCCTTC CCCTCCCCTCT	AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding		3927		chrX	TogoVar
ALDH1L2_chr12_105014790_105089458	105036158	ATAATATA others(88): Show ATAATATATACACGTATATTTATATATGTGTATATAATATATACACGTAT ATTTATATATGTGTATATAATATATACACGTATATTTATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0340 a0001c0002t0025g0340	1	386	0.0026	-95	c.214 others(114): Show c.2145+1850_2146-1761delCACATATATAAATATACGTGTATATA TTATATACACATATATAAATATACGTGTATATATTATATACACATATATA AATATACGTGTATATATTA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	18/22			chr12	TogoVar
ALKBH8_chr11_107497727_107570735	107547265	AAGGTGCT others(88): Show AAGGTGCTAGGAGAAATTCAAGTAATTACACAGCATCAATCAATCAATAA AACAGAACAGCACAAGTTGCAAGAGTGGAAAGTCATCTCTCTCATG	A A	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0262 a0001c0001t0002g0262	1	400	0.0025	-95	c.771 others(112): Show c.771+2393_771+2487delCATGAGAGAGATGACTTTCCACTCTTGC AACTTGTGCTGTTCTGTTTTATTGATTGATTGATGCTGTGTAATTACTTG AATTTCTCCTAGCACCT	ALKBH8	ENSG00000137760.15	transcript	ENST00000428149.7	protein_coding	7/11			chr11	TogoVar
ALOXE3_chr17_8090900_8123514	8107870	AAAGAAAG others(88): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA18906.hp2 HG02109.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0003 a0002c0003t0002 a0001c0002t0003 a0002c0003t0002	a0001c0002t0003g0364 a0002c0003t0002g0156 a0001c0002t0003g0364 a0002c0003t0002g0156	2	422	0.0047	-95	c.168 others(112): Show c.1684+503_1684+597delCTTCCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTT	ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15			chr17	TogoVar
AMTN_chr4_70513569_70537743	70516298	AAAAATAT others(88): Show AAAAATATATATATATATATATATATACGTATATATATATATACGTATAT ATATACATATATATGTATATATATACATGTATATATATACGTATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 NA18946.hp2 HG01978.hp2 NA18946.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	2	458	0.0044	-95	c.-23 others(106): Show c.-2371_-2277delAAAATATATATATATATATATATATACGTATATA TATATATACGTATATATATACATATATATGTATATATATACATGTATATA TATACGTATAT	AMTN	ENSG00000187689.10	transcript	ENST00000339336.9	protein_coding		2270		chr4	TogoVar
ANO2_chr12_5557655_5950259	5902735	GGGGAGGG others(88): Show GGGGAGGGGAGGGGAAGGGAGGGGAGGGGAGGGGAAGGGAGGGGAGGAGA GGGGAGGGGATGGGATGGGATGGGAAGGGAGGGGAGGGGATGGGAT	G G	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03491.hp1 HG02965.hp2 HG03491.hp1	a0001 a0004 a0001 a0004	a0001c0005 a0004c0009 a0001c0005 a0004c0009	a0001c0005t0001 a0004c0009t0001 a0001c0005t0001 a0004c0009t0001	a0001c0005t0001g0050 a0004c0009t0001g0065 a0001c0005t0001g0050 a0004c0009t0001g0065	2	162	0.0124	-95	c.534 others(114): Show c.534+18210_534+18304delATCCCATCCCCTCCCCTCCCTTCCCA TCCCATCCCATCCCCTCCCCTCTCCTCCCCTCCCTTCCCCTCCCCTCCCC TCCCTTCCCCTCCCCTCCC	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	3/24			chr12	TogoVar
ANO2_chr12_5557655_5950259	5902767	GGAAGGGA others(88): Show GGAAGGGAGGGGAGGAGAGGGGAGGGGATGGGATGGGATGGGAAGGGAGG GGAGGGGATGGGATGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0161 a0002c0003t0002g0161	1	162	0.0062	-95	c.534 others(114): Show c.534+18178_534+18272delTCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCATCCCATCCCCTCCCCTCCCTTCCCATCCCATCCCATCCCCTCC CCTCTCCTCCCCTCCCTTC	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	3/24			chr12	TogoVar
AOAH_chr7_36507941_36729494	36515473	ACAACCCC others(88): Show ACAACCCCACACCACACACATACATCACAAACACACCCCCAAACACCACA CACACCACACCCTTCACAACCCCACGCCACACACACATAATCACAC	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0174 a0002c0002t0002g0174	1	306	0.0033	-95	c.160 others(114): Show c.1600-2188_1600-2094delGTGTGATTATGTGTGTGTGGCGTGGG GTTGTGAAGGGTGTGGTGTGTGTGGTGTTTGGGGGTGTGTTTGTGATGTA TGTGTGTGGTGTGGGGTTG	AOAH	ENSG00000136250.12	transcript	ENST00000617537.5	protein_coding	20/20			chr7	TogoVar
AP3B1_chr5_77997326_78299698	78051966	TCAATCCA others(88): Show TCAATCCATTTCATTGAGGCTAGCATTAACCTAGTATTGACCTAGAATAG GATTTAAAAAAGTAAACGGCAAATTTGGTTAACTCTTACATATAAG	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03130.hp2 HG02630.hp1 HG03130.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0002 a0001c0004t0001 a0001c0004t0002	a0001c0004t0001g0077 a0001c0004t0002g0226 a0001c0004t0001g0077 a0001c0004t0002g0226	2	226	0.0089	-95	c.257 others(116): Show c.2578-12787_2578-12693delCTTATATGTAAGAGTTAACCAAAT TTGCCGTTTACTTTTTTAAATCCTATTCTAGGTCAATACTAGGTTAATGC TAGCCTCAATGAAATGGATTG	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	22/26			chr5	TogoVar
AP5Z1_chr7_4770623_4799397	4771724	GGACACAC others(88): Show GGACACACAGGCCCCTGACCCCCTGGACACACAGACCCCTGACCCCTGGA CACACAGACCCCTGAGCCCCTGGACATACAGGCTCCCGGCCCCCTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	340	0.0029	-95	c.-39 others(106): Show c.-3991_-3897delGACACACAGGCCCCTGACCCCCTGGACACACAGA CCCCTGACCCCTGGACACACAGACCCCTGAGCCCCTGGACATACAGGCTC CCGGCCCCCTA	AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding		3898		chr7	TogoVar
APH1A_chr1_150260404_150274016	150273777	TTCCTACC others(88): Show TTCCTACCTTTTTTAGGTCTGGTTCTCCCTTTGGGTTTATAGTATGTGAA GGGGACTGTTTTCTGTTTTAGGAGTTCCTGGATTGAAAGGGCACGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	440	0.0023	-95	c.-50 others(106): Show c.-5062_-4968delCCGTGCCCTTTCAATCCAGGAACTCCTAAAACAG AAAACAGTCCCCTTCACATACTATAAACCCAAAGGGAGAACCAGACCTAA AAAAGGTAGGA	APH1A	ENSG00000117362.13	transcript	ENST00000369109.8	protein_coding		4762		chr1	TogoVar
ARF3_chr12_48930723_48962487	48932028	TGGCCGGG others(88): Show TGGCCGGGCACAATGGCTCATGCCTGTAAATCCAGCACTTTGGGAGGCTG GGGTGGGAGGACTGCTTGAGCCCAGGAGTTTGAAACCAGCTTGGGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0037 a0001c0001t0011g0037	1	348	0.0029	-95	c.68 others(106): Show c.6824_*6918delGCCCAAGCTGGTTTCAAACTCCTGGGCTCAAGCA GTCCTCCCACCCCAGCCTCCCAAAGTGCTGGATTTACAGGCATGAGCCAT TGTGCCCGGCC	ARF3	ENSG00000134287.10	transcript	ENST00000256682.9	protein_coding		3694		chr12	TogoVar
ARHGAP21_chr10_24578614_24728887	24656843	GGGGGTCG others(88): Show GGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00609.hp2 HG00621.hp2 others(41): Show HG00408.hp1 HG00609.hp2 HG00621.hp2 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01123.hp2 HG01175.hp2 HG01257.hp2 HG01258.hp1 HG01952.hp2 HG01978.hp2 HG02004.hp2 HG02109.hp2 HG02155.hp2 HG02165.hp1 HG02300.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03239.hp2 HG03490.hp2 HG03654.hp2 HG04199.hp2 HG06807.hp2 NA18943.hp1 NA18947.hp2 NA18953.hp1 NA18957.hp2 NA18972.hp1 NA18980.hp1 NA18982.hp1 NA18988.hp2 NA19030.hp2 NA19054.hp1 NA19055.hp1 NA19062.hp2 NA19064.hp2 NA19070.hp2 NA19078.hp2 NA19090.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0014	a0001c0001 a0002c0002 a0002c0018 others(4): Show a0001c0001 a0002c0002 a0002c0018 a0002c0021 a0004c0004 a0005c0005 a0014c0024	a0001c0001t0001 a0002c0002t0001 a0002c0002t0004 others(5): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0004 a0002c0018t0001 a0002c0021t0001 a0004c0004t0001 a0005c0005t0003 a0014c0024t0011	a0001c0001t0001g0191 a0001c0001t0001g0196 a0001c0001t0001g0246 others(41): Show a0001c0001t0001g0191 a0001c0001t0001g0196 a0001c0001t0001g0246 a0002c0002t0001g0018 a0002c0002t0001g0020 a0002c0002t0001g0024 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0042 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0061 a0002c0002t0001g0064 a0002c0002t0001g0071 a0002c0002t0001g0075 a0002c0002t0001g0077 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0099 a0002c0002t0001g0139 a0002c0002t0001g0145 a0002c0002t0001g0150 a0002c0002t0001g0285 a0002c0002t0004g0301 a0002c0018t0001g0097 a0002c0021t0001g0084 a0004c0004t0001g0091 a0005c0005t0003g0147 a0014c0024t0011g0033	44	352	0.1250	-95	c.268 others(114): Show c.268+10047_268+10141delACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACCCC	ARHGAP21	ENSG00000107863.20	transcript	ENST00000396432.7	protein_coding	4/25			chr10	TogoVar
ARMT1_chr6_151447466_151475101	151470651	TTTTTAAG others(88): Show TTTTTAAGACAGGGTCTCGCCCTGTTTTCCTGGCTGGAGTGCAGGGCATG ATCACAGCTCACTGTAGTCTTGACCTCCCGGACTTAGGCGATCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	418	0.0024	-95	c.15 others(106): Show c.1542_*1636delTTTTAAGACAGGGTCTCGCCCTGTTTTCCTGGCT GGAGTGCAGGGCATGATCACAGCTCACTGTAGTCTTGACCTCCCGGACTT AGGCGATCCTC	ARMT1	ENSG00000146476.11	transcript	ENST00000367294.4	protein_coding		551		chr6	TogoVar
ASB13_chr10_5633867_5671595	5648332	TAAACACC others(88): Show TAAACACCCACGTGGGCAACACCCACGGGGGTAAACACCCATGCAGGCAA ACACCCACTCAGGCAAACACCCCCTTGGGTAAACACCCACTCAGGC	T T	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	446	0.0022	-95	c.517 others(110): Show c.517+543_517+637delGCCTGAGTGGGTGTTTACCCAAGGGGGTGT TTGCCTGAGTGGGTGTTTGCCTGCATGGGTGTTTACCCCCGTGGGTGTTG CCCACGTGGGTGTTT	ASB13	ENSG00000196372.13	transcript	ENST00000357700.11	protein_coding	4/5			chr10	TogoVar
ATP11A_chr13_112685038_112892168	112804252	CCCTCCTT others(88): Show CCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCC TTTTCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTG	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02280.hp1 HG02055.hp1 HG02280.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0004 a0001c0013t0004	a0001c0013t0004g0083 a0001c0013t0004g0084 a0001c0013t0004g0083 a0001c0013t0004g0084	2	254	0.0079	-95	c.163 others(110): Show c.163-702_163-608delTCCTTCACCTCCCTCCCCCCATCCCCTCTC TGCCCTCCTTCCCCTCCTTTTCCTCCTTCCCTCCTTCACCTCCCTCCCCC CATCCCCTCTCTGCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP5ME_chr4_667436_679276	669477	GCCATGCT others(88): Show GCCATGCTATTCCCGCTACCCCATGCTATTCCCACTACCCCATGCTATTC CCGCTACCCCATGCTATTCCCGCTACGCCATGCTATTCCCACTACC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG02976.hp1 HG01167.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	394	0.0051	-95	c.29 others(106): Show c.2928_*3022delGGTAGTGGGAATAGCATGGCGTAGCGGGAATAGC ATGGGGTAGCGGGAATAGCATGGGGTAGTGGGAATAGCATGGGGTAGCGG GAATAGCATGG	ATP5ME	ENSG00000169020.10	transcript	ENST00000304312.5	protein_coding		2958		chr4	TogoVar
ATP6V0D2_chr8_86093910_86159225	86145180	GAGAAAGA others(88): Show GAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	360	0.0028	-95	c.639 others(112): Show c.639+2244_639+2338delAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAA	ATP6V0D2	ENSG00000147614.4	transcript	ENST00000285393.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
BRSK2_chr11_1384934_1467689	1429235	GGTGTGTC others(88): Show GGTGTGTCCTGGATGCATGTGCACAGGTGTGTGTGCACTCGTGTGGGTGT GTGCACTGGGCGTGTGTCCTGGGTGTGTGTGCGTGTGCGCACAGGT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00438.hp2 others(104): Show HG00280.hp2 HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00609.hp1 HG00621.hp1 HG00642.hp1 HG01070.hp2 HG01081.hp1 HG01109.hp2 HG01123.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01433.hp2 HG01496.hp2 HG01934.hp2 HG01981.hp2 HG02004.hp1 HG02027.hp2 HG02080.hp1 HG02129.hp2 HG02258.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03831.hp1 HG03834.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18939.hp1 NA18947.hp1 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18959.hp1 NA18963.hp1 NA18964.hp2 NA18966.hp1 NA18975.hp1 NA18977.hp1 NA18994.hp1 NA18995.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19030.hp2 NA19060.hp1 NA19064.hp1 NA19067.hp2 NA19074.hp1 NA19074.hp2 NA19081.hp1 NA19081.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0005 others(2): Show a0001c0001 a0002c0002 a0002c0005 a0002c0011 a0002c0017	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(20): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0028 a0001c0001t0046 a0001c0001t0047 a0001c0001t0062 a0001c0001t0075 a0002c0002t0002 a0002c0002t0005 a0002c0002t0015 a0002c0002t0016 a0002c0002t0029 a0002c0002t0030 a0002c0002t0069 a0002c0002t0072 a0002c0005t0005 a0002c0005t0034 a0002c0011t0002 a0002c0017t0052	a0001c0001t0001g0017 a0001c0001t0001g0029 a0001c0001t0001g0044 others(103): Show a0001c0001t0001g0017 a0001c0001t0001g0029 a0001c0001t0001g0044 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0001g0097 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0130 a0001c0001t0001g0150 a0001c0001t0001g0312 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0339 a0001c0001t0001g0343 a0001c0001t0003g0002 a0001c0001t0003g0045 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0196 a0001c0001t0003g0199 a0001c0001t0003g0203 a0001c0001t0003g0230 a0001c0001t0003g0232 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0263 a0001c0001t0003g0268 a0001c0001t0003g0280 a0001c0001t0003g0287 a0001c0001t0004g0080 a0001c0001t0004g0081 a0001c0001t0004g0084 a0001c0001t0004g0090 a0001c0001t0004g0106 a0001c0001t0004g0173 a0001c0001t0004g0188 a0001c0001t0006g0282 a0001c0001t0009g0068 a0001c0001t0009g0100 a0001c0001t0009g0101 a0001c0001t0009g0120 a0001c0001t0009g0122 a0001c0001t0009g0128 a0001c0001t0011g0295 a0001c0001t0011g0307 a0001c0001t0011g0352 a0001c0001t0028g0332 a0001c0001t0028g0333 a0001c0001t0046g0083 a0001c0001t0047g0340 a0001c0001t0062g0257 a0001c0001t0075g0202 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0024 a0002c0002t0002g0031 a0002c0002t0002g0033 a0002c0002t0002g0035 a0002c0002t0002g0060 a0002c0002t0002g0074 a0002c0002t0002g0079 a0002c0002t0002g0088 a0002c0002t0002g0126 a0002c0002t0002g0145 a0002c0002t0002g0321 a0002c0002t0002g0323 a0002c0002t0005g0212 a0002c0002t0015g0027 a0002c0002t0015g0327 a0002c0002t0016g0207 a0002c0002t0016g0208 a0002c0002t0016g0240 a0002c0002t0029g0025 a0002c0002t0029g0026 a0002c0002t0030g0171 a0002c0002t0030g0174 a0002c0002t0069g0231 a0002c0002t0072g0273 a0002c0005t0005g0289 a0002c0005t0034g0055 a0002c0005t0034g0056 a0002c0011t0002g0032 a0002c0017t0052g0008	107	360	0.2972	-95	c.92- others(110): Show c.92-6793_92-6699delATGCATGTGCACAGGTGTGTGTGCACTCGT GTGGGTGTGTGCACTGGGCGTGTGTCCTGGGTGTGTGTGCGTGTGCGCAC AGGTGTGTGTCCTGG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRWD1_chr21_39180482_39318632	39193143	AAAACTTA others(88): Show AAAACTTAAGTTCTTTGCCTCCATTTTCTTATAAACCCAATTTCCTCTTT AGGTGCAGCTCTACTATTTGAAAGGAACCTTTCTGTTGTAATTTAC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18942.hp2 NA19063.hp2 NA18942.hp2 NA19063.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0022 a0002c0002t0022	a0002c0002t0022g0210 a0002c0002t0022g0229 a0002c0002t0022g0210 a0002c0002t0022g0229	2	338	0.0059	-95	c.30 others(106): Show c.3021_*3115delGTAAATTACAACAGAAAGGTTCCTTTCAAATAGT AGAGCTGCACCTAAAGAGGAAATTGGGTTTATAAGAAAATGGAGGCAAAG AACTTAAGTTT	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	41/41	3021		chr21	TogoVar
C22orf42_chr22_32144006_32164303	32147775	TTTGTACT others(88): Show TTTGTACTCTGTCCCTTTATTTCTCAAGCCAGCTGACGCTTAGGAAAAAT AGAAAAGAATCTACGTGATTATCAGGGCAGGTCCCCCAATAATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG03491.hp1 homoSapiens_chm13v2.hp1 HG02129.hp1 HG03491.hp1 homoSapiens_chm13v2.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0033 a0003c0003t0002g0058 a0003c0003t0002g0033 a0003c0003t0002g0058	3	398	0.0075	-95	c.16 others(106): Show c.1670_*1764delTATATTATTGGGGGACCTGCCCTGATAATCACGT AGATTCTTTTCTATTTTTCCTAAGCGTCAGCTGGCTTGAGAAATAAAGGG ACAGAGTACAA	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		1230		chr22	TogoVar
C2CD4C_chr19_400445_414147	404737	GGGAACGG others(88): Show GGGAACGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGATGGGGTCCTGCC CTGAGGGGTGTGGAGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03195.hp2 HG03139.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0031 a0001c0006t0123 a0001c0001t0031 a0001c0006t0123	a0001c0001t0031g0027 a0001c0006t0123g0065 a0001c0001t0031g0027 a0001c0006t0123g0065	2	322	0.0062	-95	c.22 others(106): Show c.2264_*2358delTCACACCCCTCAGGGCAGGACCCCGTCCCCCCTC CACACCCCTCAGGGCAGGACCCCATCCCCCCTCCACACCCCTCAGGGCAG GACCCCGTTCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		707		chr19	TogoVar
C2CD4C_chr19_400445_414147	404872	GACGGGGT others(88): Show GACGGGGTCCTGTCCCGAGGGGTGTGGGGGGGGGACGGGGTCCTGCCCTG AGGGGTGTGGGGGGAACGGGGTCCTGCCCTGAGGGGTGTGGGGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0078	a0001c0001t0078g0173 a0001c0001t0078g0173	1	322	0.0031	-95	c.21 others(106): Show c.2129_*2223delTCCCCCCACACCCCTCAGGGCAGGACCCCGTTCC CCCCACACCCCTCAGGGCAGGACCCCGTCCCCCCCCCACACCCCTCGGGA CAGGACCCCGT	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		572		chr19	TogoVar
C3_chr19_6672704_6725650	6713753	TCCCAGCC others(88): Show TCCCAGCCCCCACCTGACTCCACCCCCCAGCCCCCCACCTGGTCCCACCC CCAGCCCCTCACCTTGCCCCACCCCCAGCCCCCCACCTTCCCCACC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02055.hp1 HG02630.hp2 others(7): Show HG01099.hp1 HG02055.hp1 HG02630.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp2 HG02970.hp2 HG03098.hp1 HG03225.hp1 NA19043.hp1	a0001 a0007 a0008 others(1): Show a0001 a0007 a0008 a0012	a0001c0007 a0001c0010 a0001c0012 others(5): Show a0001c0007 a0001c0010 a0001c0012 a0001c0059 a0001c0060 a0007c0038 a0008c0054 a0012c0058	a0001c0007t0002 a0001c0010t0001 a0001c0012t0001 others(5): Show a0001c0007t0002 a0001c0010t0001 a0001c0012t0001 a0001c0059t0001 a0001c0060t0002 a0007c0038t0001 a0008c0054t0001 a0012c0058t0002	a0001c0007t0002g0226 a0001c0010t0001g0066 a0001c0010t0001g0067 others(7): Show a0001c0007t0002g0226 a0001c0010t0001g0066 a0001c0010t0001g0067 a0001c0010t0001g0068 a0001c0012t0001g0312 a0001c0059t0001g0110 a0001c0060t0002g0024 a0007c0038t0001g0053 a0008c0054t0001g0028 a0012c0058t0002g0065	10	370	0.0270	-95	c.773 others(110): Show c.773+144_773+238delGGTGGGGAAGGTGGGGGGCTGGGGGTGGGG CAAGGTGAGGGGCTGGGGGTGGGACCAGGTGGGGGGCTGGGGGGTGGAGT CAGGTGGGGGCTGGG	C3	ENSG00000125730.18	transcript	ENST00000245907.11	protein_coding	7/40			chr19	TogoVar
C7orf50_chr7_992006_1143247	1059762	AGTGGGGC others(88): Show AGTGGGGCGGGTCCGTAATGAGGCGGGTCTTAGGCAGGCCCGTAGTGGGG CGGGTCTGTAGTGGGGCGGGTCTGTAGTGAGGCGGGTCCGTAGTGG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG00733.hp1 others(17): Show HG00639.hp1 HG00639.hp2 HG00733.hp1 HG01243.hp2 HG01433.hp1 HG01433.hp2 HG01928.hp1 HG02273.hp1 HG03098.hp1 HG03471.hp2 HG03491.hp2 HG03927.hp1 NA18522.hp2 NA18747.hp1 NA18955.hp1 NA19004.hp1 NA19054.hp2 NA20129.hp1 NA20752.hp1 NA21309.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0003 a0001c0001 a0009c0003	a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 others(3): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0009c0003t0011	a0001c0001t0007g0130 a0001c0001t0007g0137 a0001c0001t0008g0116 others(17): Show a0001c0001t0007g0130 a0001c0001t0007g0137 a0001c0001t0008g0116 a0001c0001t0008g0132 a0001c0001t0009g0117 a0001c0001t0009g0128 a0001c0001t0009g0131 a0001c0001t0009g0133 a0001c0001t0009g0139 a0001c0001t0009g0140 a0001c0001t0009g0141 a0001c0001t0009g0142 a0001c0001t0009g0143 a0001c0001t0009g0147 a0001c0001t0009g0148 a0001c0001t0011g0261 a0001c0001t0011g0276 a0001c0001t0011g0277 a0001c0001t0012g0291 a0009c0003t0011g0274	20	326	0.0614	-95	c.130 others(114): Show c.130-49714_130-49620delCCACTACGGACCCGCCTCACTACAGA CCCGCCCCACTACAGACCCGCCCCACTACGGGCCTGCCTAAGACCCGCCT CATTACGGACCCGCCCCAC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CACNA2D3_chr3_54117552_55079557	54735996	TATATATA others(88): Show TATATATATATGTATATATATACACATACATATATATATGTATATATATA CACATACATATGTATGTATATATATATACATATATATGTATGTGTA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01255.hp2 HG01258.hp2 others(10): Show HG00280.hp2 HG01255.hp2 HG01258.hp2 HG01884.hp2 HG02300.hp1 HG03130.hp1 HG03130.hp2 HG03239.hp2 HG03486.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0012 others(2): Show a0001c0001 a0001c0002 a0001c0012 a0001c0027 a0001c0040	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0012t0005 a0001c0027t0001 a0001c0040t0001	a0001c0001t0001g0024 a0001c0001t0001g0053 a0001c0001t0001g0068 others(10): Show a0001c0001t0001g0024 a0001c0001t0001g0053 a0001c0001t0001g0068 a0001c0001t0001g0089 a0001c0001t0001g0107 a0001c0002t0001g0020 a0001c0002t0001g0040 a0001c0002t0001g0081 a0001c0002t0002g0066 a0001c0002t0004g0001 a0001c0012t0005g0027 a0001c0027t0001g0014 a0001c0040t0001g0117	13	118	0.1102	-95	c.116 others(116): Show c.1168-16602_1168-16508delATATATATATGTATATATATACAC ATACATATATATATGTATATATATACACATACATATGTATGTATATATAT ATACATATATATGTATGTGTA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	11/37			chr3	TogoVar
CACNG3_chr16_24251335_24367412	24317618	GAAAGAAA others(88): Show GAAAGAAAGACAGACAGAAAGAAAGAAAAGAAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG01258.hp1 others(17): Show HG00280.hp2 HG00408.hp2 HG01258.hp1 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01993.hp1 HG02165.hp1 HG02647.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02976.hp2 HG03139.hp1 HG03490.hp1 HG03516.hp2 NA18747.hp1 NA18963.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0027 a0001c0001t0001g0029 others(17): Show a0001c0001t0001g0001 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0051 a0001c0001t0001g0109 a0001c0001t0001g0146 a0001c0001t0001g0180 a0001c0001t0001g0186 a0001c0001t0001g0195 a0001c0001t0001g0223 a0001c0001t0001g0242 a0001c0001t0001g0269 a0001c0001t0001g0280 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0329 a0001c0001t0001g0336 a0001c0001t0001g0360 a0001c0001t0002g0002 a0001c0001t0002g0264	20	366	0.0546	-95	c.212 others(114): Show c.212-29106_212-29012delCAGACAGAAAGAAAGAAAAGAAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAAGAAAGA	CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	524705	CGTGGGTG others(88): Show CGTGGGTGCAGAGCCCCTCACATGAGGACCGCCCCATCCTGCCTCTGCTG AAGGGCAGGTATAGGAAGGCTGGACCCCCTCAGCGGCCCCCCGGAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0186 a0001c0004t0001g0186	1	410	0.0024	-95	c.-35 others(106): Show c.-3513_-3419delGTGGGTGCAGAGCCCCTCACATGAGGACCGCCCC ATCCTGCCTCTGCTGAAGGGCAGGTATAGGAAGGCTGGACCCCCTCAGCG GCCCCCCGGAT	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding		3006		chr16	TogoVar
CAPN15_chr16_522712_559636	524741	TCCTGCCT others(88): Show TCCTGCCTCTGCTGAAGGGCAGGTATAGGAAGGCTGGACCCCCTCAGCGG CCCCCCGGATGTGGGTGCAGAGCCCCTCACATGAGGACCGCCCCAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0063 a0001c0063	a0001c0063t0001 a0001c0063t0001	a0001c0063t0001g0266 a0001c0063t0001g0266	1	410	0.0024	-95	c.-34 others(106): Show c.-3477_-3383delCCTGCCTCTGCTGAAGGGCAGGTATAGGAAGGCT GGACCCCCTCAGCGGCCCCCCGGATGTGGGTGCAGAGCCCCTCACATGAG GACCGCCCCAG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding		2970		chr16	TogoVar
CAPN15_chr16_522712_559636	524773	GCTGGACC others(88): Show GCTGGACCCCCTCAGCGGCCCCCCGGATGTGGGTGCAGAGCCCCTCACAT GAGGACCGCCCCAGCCTGCCTCTGCTGAAGGGCAGGTATAGGAAGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0011 a0011	a0011c0027 a0011c0027	a0011c0027t0024 a0011c0027t0024	a0011c0027t0024g0273 a0011c0027t0024g0273	1	410	0.0024	-95	c.-34 others(106): Show c.-3445_-3351delCTGGACCCCCTCAGCGGCCCCCCGGATGTGGGTG CAGAGCCCCTCACATGAGGACCGCCCCAGCCTGCCTCTGCTGAAGGGCAG GTATAGGAAGT	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding		2938		chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88954369	CTCCTGAC others(88): Show CTCCTGACCCCACCCAAGACTCCTGACCCTACCCAAGACTCCTGACCCCA CCCAAGGCTCCTGACCCCATCCAAGGCTCCTGACCCCAGCCAAGTG	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0020 a0001c0001 a0001c0020	a0001c0001t0001 a0001c0001t0002 a0001c0020t0029 a0001c0001t0001 a0001c0001t0002 a0001c0020t0029	a0001c0001t0001g0110 a0001c0001t0002g0265 a0001c0020t0029g0111 a0001c0001t0001g0110 a0001c0001t0002g0265 a0001c0020t0029g0111	3	284	0.0106	-95	c.151 others(114): Show c.151+22193_151+22287delCACTTGGCTGGGGTCAGGAGCCTTGG ATGGGGTCAGGAGCCTTGGGTGGGGTCAGGAGTCTTGGGTAGGGTCAGGA GTCTTGGGTGGGGTCAGGA	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88954476	GCCAAGGC others(88): Show GCCAAGGCTCCTGACCCCGCCCAAGGCTCCTGACCTCAGCCAAGGCTCCT GACTCCACCCAAGGCTCCTGACCTCAGCCAAGGCTCCTGACCCTAC	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA19005.hp1 HG00673.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0182 a0001c0001t0001g0073 a0001c0001t0001g0182	2	284	0.0070	-95	c.151 others(114): Show c.151+22086_151+22180delGTAGGGTCAGGAGCCTTGGCTGAGGT CAGGAGCCTTGGGTGGAGTCAGGAGCCTTGGCTGAGGTCAGGAGCCTTGG GCGGGGTCAGGAGCCTTGG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88954704	GCCAAGGC others(88): Show GCCAAGGCTCCTGACCCTACCCAAGGCTCCTGACCCCACCCAAGGCTCCT GACCTCAGCCAAGACTCCTGACCCCACCCAAGGCTCCTGACCCCAC	G G	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	284	0.0035	-95	c.151 others(114): Show c.151+21858_151+21952delGTGGGGTCAGGAGCCTTGGGTGGGGT CAGGAGTCTTGGCTGAGGTCAGGAGCCTTGGGTGGGGTCAGGAGCCTTGG GTAGGGTCAGGAGCCTTGG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88955538	CACCCAAG others(88): Show CACCCAAGGCTCCTGACCCCAGCCAAGGCTCCTGACCCCACCCAAGGCTC CTGACCCCACCCAAGGCTCCTGACCCCACCCAAGGCTCCTGACCCT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00733.hp1 HG00735.hp1 HG00642.hp1 HG00733.hp1 HG00735.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0003c0007t0001 a0001c0001t0001 a0003c0007t0001	a0001c0001t0001g0124 a0003c0007t0001g0151 a0003c0007t0001g0152 a0001c0001t0001g0124 a0003c0007t0001g0151 a0003c0007t0001g0152	3	284	0.0106	-95	c.151 others(114): Show c.151+21024_151+21118delAGGGTCAGGAGCCTTGGGTGGGGTCA GGAGCCTTGGGTGGGGTCAGGAGCCTTGGGTGGGGTCAGGAGCCTTGGCT GGGGTCAGGAGCCTTGGGT	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CCDC57_chr17_82096470_82217842	82147868	ATGAATGG others(88): Show ATGAATGGGTGGGTGGATGGATGGATGGATAGATAGGTGGGTGGATGGAT GGTAGATGGATGGGTGGGTGGGTGGATGGGTAGATGGATGGATGGT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp2 HG03516.hp1 HG03516.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0001 a0004c0007t0002 a0001c0001t0001 a0004c0007t0002	a0001c0001t0001g0129 a0004c0007t0002g0176 a0001c0001t0001g0129 a0004c0007t0002g0176	2	252	0.0079	-95	c.245 others(114): Show c.2455+3597_2455+3691delACCATCCATCCATCTACCCATCCACC CACCCACCCATCCATCTACCATCCATCCACCCACCTATCTATCCATCCAT CCATCCACCCACCCATTCA	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding	15/18			chr17	TogoVar
CDH15_chr16_89166748_89200492	89186116	TTACCCAG others(88): Show TTACCCAGCGCACAGTAGGTGCTCTGTAAACGCTTACCCAGCACACAGTA GGTGCTCTGTAAACGCTTACCCAGCGCACAGTAGGTGCTCTGTGAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01993.hp1 HG02559.hp1 others(1): Show HG00140.hp2 HG01993.hp1 HG02559.hp1 NA18522.hp1	a0002 a0003 a0012 a0002 a0003 a0012	a0002c0004 a0003c0003 a0012c0026 a0002c0004 a0003c0003 a0012c0026	a0002c0004t0001 a0003c0003t0001 a0012c0026t0001 a0002c0004t0001 a0003c0003t0001 a0012c0026t0001	a0002c0004t0001g0156 a0002c0004t0001g0175 a0003c0003t0001g0218 others(1): Show a0002c0004t0001g0156 a0002c0004t0001g0175 a0003c0003t0001g0218 a0012c0026t0001g0211	4	406	0.0099	-95	c.663 others(110): Show c.663+784_663+878delTACCCAGCGCACAGTAGGTGCTCTGTAAAC GCTTACCCAGCACACAGTAGGTGCTCTGTAAACGCTTACCCAGCGCACAG TAGGTGCTCTGTGAA	CDH15	ENSG00000129910.8	transcript	ENST00000289746.3	protein_coding	5/13			chr16	TogoVar
CDH15_chr16_89166748_89200492	89186158	ACACAGTA others(88): Show ACACAGTAGGTGCTCTGTAAACGCTTACCCAGCGCACAGTAGGTGCTCTG TGAACACCCAGCGCACAGTAGGTGCTCTGTAAACGCTCACCCAGTG	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03486.hp1 NA20129.hp2 HG03453.hp2 HG03486.hp1 NA20129.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0018 a0003c0009t0001g0018	3	406	0.0074	-95	c.663 others(110): Show c.663+850_663+944delTACCCAGCGCACAGTAGGTGCTCTGTGAAC ACCCAGCGCACAGTAGGTGCTCTGTAAACGCTCACCCAGTGCACAGTAGG TGCTCTGTAAACGCT	CDH15	ENSG00000129910.8	transcript	ENST00000289746.3	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHST11_chr12_104451948_104767014	104582213	ATCTTATT others(88): Show ATCTTATTGGTGAGCAAACTGAGATGCAGGGGGTTAAGAAGCTTGCAGAA GATCACTCTGCTGGCCAGTGGAGGGGCCAGGATTTGAGGCAGGAAT	A A	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	240	0.0042	-95	c.119 others(114): Show c.119-19689_119-19595delTATTGGTGAGCAAACTGAGATGCAGG GGGTTAAGAAGCTTGCAGAAGATCACTCTGCTGGCCAGTGGAGGGGCCAG GATTTGAGGCAGGAATTCT	CHST11	ENSG00000171310.11	transcript	ENST00000303694.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
CLN8_chr8_1758789_1791570	1763508	CCCCCGCC others(88): Show CCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCG CCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0160 a0001c0001t0014g0160	1	413	0.0024	-95	c.-50 others(104): Show c.-500_-406delCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCC CCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCC CCCGCCGCG	CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding		280		chr8	TogoVar
CNFN_chr19_42382019_42395297	42388024	AAAAAAAG others(88): Show AAAAAAAGAAAAAGAAATTAAAGTCTCGGTCTGTCATCCAGGCTGGAGTG CAGTGGTGTGATCACATGTCTCACTGTAGCCTCGACCTCCTGGGCT	A A	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	276	0.0036	-95	c.113 others(110): Show c.113-643_113-549delAGCCCAGGAGGTCGAGGCTACAGTGAGACA TGTGATCACACCACTGCACTCCAGCCTGGATGACAGACCGAGACTTTAAT TTCTTTTTCTTTTTT	CNFN	ENSG00000105427.10	transcript	ENST00000222032.10	protein_coding	2/3			chr19	TogoVar
CNTRL_chr9_121069955_121182610	121092457	ATATATAT others(88): Show ATATATATATAATATATATCTATATATATAATATATATCTATATATATAA TATATATCTATATATATAATATATATCTATATATATTATATATATC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01070.hp2 HG01071.hp2 others(16): Show HG00280.hp1 HG01070.hp2 HG01071.hp2 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01255.hp2 HG01952.hp2 HG02055.hp1 HG02145.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02818.hp1 HG02896.hp1 HG02897.hp1 HG03453.hp1 NA18906.hp2 NA20752.hp2	a0001 a0007 a0025 a0001 a0007 a0025	a0001c0001 a0001c0005 a0007c0011 others(1): Show a0001c0001 a0001c0005 a0007c0011 a0025c0027	a0001c0001t0001 a0001c0005t0001 a0007c0011t0001 others(1): Show a0001c0001t0001 a0001c0005t0001 a0007c0011t0001 a0025c0027t0001	a0001c0001t0001g0149 a0001c0001t0001g0186 a0001c0001t0001g0187 others(13): Show a0001c0001t0001g0149 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0005t0001g0003 a0001c0005t0001g0166 a0001c0005t0001g0181 a0001c0005t0001g0182 a0001c0005t0001g0183 a0001c0005t0001g0184 a0001c0005t0001g0185 a0007c0011t0001g0014 a0007c0011t0001g0162 a0025c0027t0001g0193	19	330	0.0576	-95	c.348 others(112): Show c.348+2119_348+2213delAATATATATCTATATATATTATATATAT CTATATATATAATATATATCTATATATATAATATATATCTATATATATAA TATATATCTATATATAT	CNTRL	ENSG00000119397.19	transcript	ENST00000373855.7	protein_coding	4/43		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL26A1_chr7_101357875_101564024	101489663	TCCTTCCT others(88): Show TCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTGTCTTTCTTTCTTT CATTCTTTCTTTCTCTCTCTCTTTCTCTCTTTCTTTCTTGTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0029 a0001c0005t0029	a0001c0005t0029g0092 a0001c0005t0029g0092	1	174	0.0058	-95	c.385 others(114): Show c.385+41877_385+41971delCCTTCCTTCCTTCCTTCCTTTCTTTC TTTCTTTCTGTCTTTCTTTCTTTCATTCTTTCTTTCTCTCTCTCTTTCTC TCTTTCTTTCTTGTCTCTC	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12			chr7	TogoVar
COL26A1_chr7_101357875_101564024	101489711	TTCATTCT others(88): Show TTCATTCTTTCTTTCTCTCTCTCTTTCTCTCTTTCTTTCTTGTCTCTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA19054.hp1 NA19060.hp1 NA18963.hp1 NA19054.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0018 a0001c0001t0002 a0001c0002t0018	a0001c0001t0002g0062 a0001c0001t0002g0093 a0001c0002t0018g0045 a0001c0001t0002g0062 a0001c0001t0002g0093 a0001c0002t0018g0045	3	174	0.0172	-95	c.385 others(114): Show c.385+41926_385+42020delCATTCTTTCTTTCTCTCTCTCTTTCT CTCTTTCTTTCTTGTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL6A1_chr21_45976770_46010048	45988096	GCTCCAGA others(88): Show GCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGT CCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGC	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA19005.hp2 HG00423.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0111 a0001c0001t0002g0096 a0001c0001t0002g0111	2	128	0.0156	-95	c.804 others(110): Show c.804+443_804+537delCTCCAGATGGAGGGGACGGCGGGAGTCCAG ATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGG AGGGGACGTCGGGGC	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34			chr21	TogoVar
CSF2RA_chrX_1263814_1314935	1314212	ACCTGCCC others(88): Show ACCTGCCCAACCCCACTGCACCTGCCCAACCCCACTGCACCTGCCCAACC CCACTGCGCCTGCCCAACCCCACTGCATCTGCCCAACCACTCTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG01070.hp1 HG01169.hp1 others(15): Show HG00408.hp1 HG01070.hp1 HG01169.hp1 HG01346.hp1 HG01981.hp1 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02572.hp2 HG02897.hp2 HG03491.hp2 NA18969.hp2 NA18980.hp2 NA18982.hp1 NA19010.hp2 NA19087.hp1 NA19091.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0009 a0011	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0004c0010 a0009c0013 a0011c0021	a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 others(8): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0002c0003t0002 a0002c0003t0004 a0004c0010t0003 a0009c0013t0003 a0011c0021t0004	a0001c0001t0003g0097 a0001c0001t0003g0113 a0001c0001t0003g0124 others(15): Show a0001c0001t0003g0097 a0001c0001t0003g0113 a0001c0001t0003g0124 a0001c0001t0004g0012 a0001c0001t0004g0019 a0001c0001t0004g0065 a0001c0001t0004g0108 a0001c0001t0004g0159 a0001c0001t0008g0120 a0001c0002t0001g0052 a0001c0002t0002g0112 a0001c0002t0004g0098 a0002c0003t0002g0030 a0002c0003t0002g0145 a0002c0003t0004g0088 a0004c0010t0003g0158 a0009c0013t0003g0153 a0011c0021t0004g0074	18	159	0.1132	-95	c.47 others(106): Show c.4734_*4828delCCTGCCCAACCCCACTGCACCTGCCCAACCCCAC TGCACCTGCCCAACCCCACTGCGCCTGCCCAACCCCACTGCATCTGCCCA ACCACTCTGTG	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4278		chrX	TogoVar

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Search Results (Total: 10000 hits)