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
OSGIN1_chr16_83948240_83971332	83951890	T T	TCCCTCCC others(558): Show TCCCTCCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCCCCTCCCTCCT TCCCTCCCTGCCTTCCTCCCCCTTTCCCTCCCTCCCTCCTTCCCTCCTTC CTCCCTTCCTCCTTCCCTCCCTCCTCCCTTCCTCCTTCCCTCCCTCCTCC CTTCCTCCTTCCCTCCCTCCTCCTTTCCTCCTCCCCTCCGTCCCTTCCTC CTTCCCTCCCTCCCTCCTTCCCTCCCTGCCTTCCACCCTCCTTCCCTCCC TCCTCCCTTCCTCCCTCCTTCCCTCCGTCCTCCCTTCCTCCCTCCCTCCC TACTTCCCTCCCTCCCTGCCTTCCTCCCTCCTTCCTTCCCTCCCTCCCTG CCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTGCC TCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTTCCTCCCTCCCTCCTTC CCTCCCTCCTTCCCTCCCTACCTCCTTCCTTCCCTCCCTCCTTCCCTCCC TCCTTCCCTCCCTGCTTTCCTCCCTCCTTCCCTCCCTCCTTCCCTCCCTA CCTCCTTCCTTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0175 a0001c0007t0003g0175	1	350	0.0029	565	c.-15 others(576): Show c.-1513_-1512insCCCTCCCTCCCTCCTTCCCTCCCTCCCTGCCTCC CTCCCCCTCCCTCCTTCCCTCCCTGCCTTCCTCCCCCTTTCCCTCCCTCC CTCCTTCCCTCCTTCCTCCCTTCCTCCTTCCCTCCCTCCTCCCTTCCTCC TTCCCTCCCTCCTCCCTTCCTCCTTCCCTCCCTCCTCCTTTCCTCCTCCC CTCCGTCCCTTCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTGCCTTCCA CCCTCCTTCCCTCCCTCCTCCCTTCCTCCCTCCTTCCCTCCGTCCTCCCT TCCTCCCTCCCTCCCTACTTCCCTCCCTCCCTGCCTTCCTCCCTCCTTCC TTCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTT CCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTTC CTCCCTCCCTCCTTCCCTCCCTCCTTCCCTCCCTACCTCCTTCCTTCCCT CCCTCCTTCCCTCCCTCCTTCCCTCCCTGCTTTCCTCCCTCCTTCCCTCC CTCCTTCCCTCCCTACCTCCTTCCTTCCCTC	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		1349		chr16	TogoVar
P2RX3_chr11_57333352_57377396	57376525	A A	ACCCCCCA others(558): Show ACCCCCCACCTCCCACCCACACCCCTACTCCCATCCCCCCACCTCCCCAC TCCCACCCCTACTCCCATCCCCACCACCATCTCCCCCACCCCTACTCCCA ACCCCTCACCTCCACCACACCCATCTCTACTCCCATCCCCCCACCTCCCA CTCCCACCCCTACTCCCAACCCCTCACCTCCACCAACCCTACCCCTACTC CCATCCCCCCACCTCCCACCCCACCCCTACTCCCATTCCCCCACCTCCCA CTCCCACCCCTACTCCCAGTCCCCCACCTCCCACCCTCATCCCTACTCCC ATCCCCCCACTTCCCACCCCACCCCTACTCCCAACCCCTCACCTGCACCA CACCCATCCCTACTCCCATCCCCCCACCTCCCACCCCCACCACTACTCCT AACCCCTCACCTGCACCACACCCATCCCTACTCCCATCCCCCCACCCCTA CTCTCAACCCCTCACCTGCACCACACCCACCCCTACTCCCAACCCCCCAC CTCCCACCCCCACCCCTACTCCCATCCCCCCACCTCCCCTTTCCCACCCC TACTCCCATCCCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG02165.hp2 HG00544.hp1 HG02165.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0001 a0002c0003t0016 a0002c0002t0001 a0002c0003t0016	a0002c0002t0001g0125 a0002c0003t0016g0131 a0002c0002t0001g0125 a0002c0003t0016g0131	2	354	0.0057	565	c.65 others(576): Show c.6528_*6529insCCCCCCACCTCCCACCCACACCCCTACTCCCATC CCCCCACCTCCCCACTCCCACCCCTACTCCCATCCCCACCACCATCTCCC CCACCCCTACTCCCAACCCCTCACCTCCACCACACCCATCTCTACTCCCA TCCCCCCACCTCCCACTCCCACCCCTACTCCCAACCCCTCACCTCCACCA ACCCTACCCCTACTCCCATCCCCCCACCTCCCACCCCACCCCTACTCCCA TTCCCCCACCTCCCACTCCCACCCCTACTCCCAGTCCCCCACCTCCCACC CTCATCCCTACTCCCATCCCCCCACTTCCCACCCCACCCCTACTCCCAAC CCCTCACCTGCACCACACCCATCCCTACTCCCATCCCCCCACCTCCCACC CCCACCACTACTCCTAACCCCTCACCTGCACCACACCCATCCCTACTCCC ATCCCCCCACCCCTACTCTCAACCCCTCACCTGCACCACACCCACCCCTA CTCCCAACCCCCCACCTCCCACCCCCACCCCTACTCCCATCCCCCCACCT CCCCTTTCCCACCCCTACTCCCATCCCCACC	P2RX3	ENSG00000109991.10	transcript	ENST00000263314.3	protein_coding		4130		chr11	TogoVar
P2RX3_chr11_57333352_57377396	57376525	A A	ACCCCCCA others(558): Show ACCCCCCACCTCCCACCCACACCCCTACTCCCATCCCCCCACCTCCCCAC TCCCACCCCTACTCCCATCCCCACCACCATCTCCCCCACCCCTACTCCCA ACCCCTCACCTCCACCACACCCATCTCTACTCCCATCCCCCCACCTCCCA CTCCCACCCCTACTCCCAACCCCTCACCTCCACCAACCCTACCCCTACTC CCATCCCCCCACCTCCCACCCCACCCCTACTCCCATTCCCCCACCTCCCA CTCCCACCCCTACTCCCAGTCCCCCACCTCCCACCCTCATCCCTACTCCC ATCCCCCCACTTCCCACCCCACCCCTACTCCCAACCCCTCACCTGCACCA CACCCATCCCTACTCCCATCCCCCCACCTCCCACCCCCACCCCTACTCCT AACCCCTCACCTGCACCACACCCATCCCTACTCCCATCCCCCCACCCCTA CTCCCAACCCCTCACCTGCACCACACCCACCCCTACTCCCAACCCCCCAC CTCCCACCCCCACCCCTACTCCCATCCCCCCACCTCCCCTTTCCCACCCC TACTCCCATCCCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(281): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18991.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19060.hp1 NA19063.hp2 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0006 a0001c0008 others(7): Show a0001c0001 a0001c0006 a0001c0008 a0002c0002 a0002c0003 a0002c0005 a0003c0004 a0004c0007 a0005c0009 a0006c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0001t0013 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0006t0001 a0001c0006t0004 a0001c0006t0023 a0001c0008t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0006 a0002c0002t0008 a0002c0002t0015 a0002c0002t0017 a0002c0002t0026 a0002c0003t0001 a0002c0003t0002 a0002c0003t0014 a0002c0005t0001 a0003c0004t0001 a0003c0004t0002 a0003c0004t0008 a0004c0007t0007 a0005c0009t0001 a0006c0011t0020	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 others(213): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0022 a0001c0001t0001g0074 a0001c0001t0001g0191 a0001c0001t0001g0198 a0001c0001t0001g0204 a0001c0001t0001g0221 a0001c0001t0001g0248 a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0080 a0001c0001t0002g0088 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0145 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0175 a0001c0001t0002g0178 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0205 a0001c0001t0002g0207 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0236 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0003g0001 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0015 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0089 a0001c0001t0003g0093 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0004g0035 a0001c0001t0004g0075 a0001c0001t0004g0078 a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0005g0016 a0001c0001t0005g0017 a0001c0001t0005g0104 a0001c0001t0005g0142 a0001c0001t0005g0143 a0001c0001t0005g0197 a0001c0001t0005g0199 a0001c0001t0005g0231 a0001c0001t0005g0247 a0001c0001t0007g0001 a0001c0001t0007g0017 a0001c0001t0007g0065 a0001c0001t0007g0066 a0001c0001t0007g0217 a0001c0001t0012g0020 a0001c0001t0013g0042 a0001c0001t0018g0234 a0001c0001t0019g0225 a0001c0001t0021g0228 a0001c0001t0024g0008 a0001c0001t0025g0220 a0001c0006t0001g0099 a0001c0006t0004g0090 a0001c0006t0023g0100 a0001c0008t0003g0094 a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0021 a0002c0002t0001g0023 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0034 a0002c0002t0001g0055 a0002c0002t0001g0071 a0002c0002t0001g0076 a0002c0002t0001g0079 a0002c0002t0001g0081 a0002c0002t0001g0084 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0113 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0129 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0138 a0002c0002t0001g0144 a0002c0002t0001g0147 a0002c0002t0001g0150 a0002c0002t0001g0153 a0002c0002t0001g0157 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0173 a0002c0002t0001g0182 a0002c0002t0001g0188 a0002c0002t0001g0192 a0002c0002t0001g0209 a0002c0002t0002g0006 a0002c0002t0002g0028 a0002c0002t0002g0122 a0002c0002t0004g0032 a0002c0002t0004g0115 a0002c0002t0006g0002 a0002c0002t0006g0005 a0002c0002t0006g0128 a0002c0002t0006g0146 a0002c0002t0006g0171 a0002c0002t0006g0172 a0002c0002t0006g0174 a0002c0002t0006g0177 a0002c0002t0006g0181 a0002c0002t0008g0149 a0002c0002t0015g0136 a0002c0002t0017g0183 a0002c0002t0026g0007 a0002c0003t0001g0001 a0002c0003t0001g0085 a0002c0003t0001g0208 a0002c0003t0001g0215 a0002c0003t0001g0226 a0002c0003t0001g0227 a0002c0003t0001g0230 a0002c0003t0001g0235 a0002c0003t0001g0246 a0002c0003t0002g0003 a0002c0003t0014g0210 a0002c0005t0001g0002 a0002c0005t0001g0023 a0002c0005t0001g0176 a0003c0004t0001g0051 a0003c0004t0001g0052 a0003c0004t0002g0018 a0003c0004t0002g0049 a0003c0004t0008g0019 a0003c0004t0008g0050 a0003c0004t0008g0053 a0003c0004t0008g0054 a0004c0007t0007g0067 a0004c0007t0007g0068 a0005c0009t0001g0139 a0006c0011t0020g0237	284	354	0.8023	565	c.65 others(576): Show c.6528_*6529insCCCCCCACCTCCCACCCACACCCCTACTCCCATC CCCCCACCTCCCCACTCCCACCCCTACTCCCATCCCCACCACCATCTCCC CCACCCCTACTCCCAACCCCTCACCTCCACCACACCCATCTCTACTCCCA TCCCCCCACCTCCCACTCCCACCCCTACTCCCAACCCCTCACCTCCACCA ACCCTACCCCTACTCCCATCCCCCCACCTCCCACCCCACCCCTACTCCCA TTCCCCCACCTCCCACTCCCACCCCTACTCCCAGTCCCCCACCTCCCACC CTCATCCCTACTCCCATCCCCCCACTTCCCACCCCACCCCTACTCCCAAC CCCTCACCTGCACCACACCCATCCCTACTCCCATCCCCCCACCTCCCACC CCCACCCCTACTCCTAACCCCTCACCTGCACCACACCCATCCCTACTCCC ATCCCCCCACCCCTACTCCCAACCCCTCACCTGCACCACACCCACCCCTA CTCCCAACCCCCCACCTCCCACCCCCACCCCTACTCCCATCCCCCCACCT CCCCTTTCCCACCCCTACTCCCATCCCCACC	P2RX3	ENSG00000109991.10	transcript	ENST00000263314.3	protein_coding		4130		chr11	TogoVar
P2RX3_chr11_57333352_57377396	57376525	A A	ACCCCCCA others(558): Show ACCCCCCACCTCCCACCCACACCCCTACTCCCATCCCCCCACCTCCCCAC TCCCACCCCTACTCCCATCCCCACCACCATCTCCCCCACCCCTACTCCCA ACCCCTCACCTCCACCACACCCATCTCTACTCCCATCCCCCCACCTCCCA CTCCCACCCCTACTCCCAACCCCTCACCTCCACCAACCCTACCCCTACTC CCATCCCCCCACCTCCCACCCCACCCCTACTCCCATTCCCCCACCTCCCA CTCCCACCCCTACTCCCAGTCCCCCACCTCCCACCCTCATCCCTACTCCC ATCCCCCCACTTCCCACCCCACCCCTACTCCCAACCCCTCACCTGCACCA CACCCATCCCTACTCCCATCCCCCCACCTCCCACCCCCACCCCTACTCCT AACCCCTCACCTGCACCACACCCATCCCTACTCCCATCCCCCCACCCCTA CTCCCAACCCCTCACCTGCACCACACCCACCCCTACTCCCAACCCCCCAC CTCCCACCCCCATCCCTACTCCCATCCCCCCACCTCCCCTTTCCCACCCC TACTCCCATCCCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG01243.hp1 HG01884.hp1 others(17): Show HG00609.hp2 HG01243.hp1 HG01884.hp1 HG02015.hp1 HG02630.hp1 HG02647.hp1 HG02809.hp1 NA18939.hp1 NA18966.hp2 NA18968.hp1 NA18977.hp2 NA18993.hp1 NA18998.hp2 NA19004.hp2 NA19055.hp1 NA19060.hp2 NA19064.hp1 NA19074.hp2 NA19089.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0010 a0001c0001t0001 a0002c0002t0001 a0002c0002t0010	a0001c0001t0001g0004 a0001c0001t0001g0166 a0002c0002t0001g0014 others(12): Show a0001c0001t0001g0004 a0001c0001t0001g0166 a0002c0002t0001g0014 a0002c0002t0001g0032 a0002c0002t0001g0073 a0002c0002t0001g0082 a0002c0002t0001g0101 a0002c0002t0001g0124 a0002c0002t0001g0158 a0002c0002t0001g0160 a0002c0002t0001g0162 a0002c0002t0001g0180 a0002c0002t0010g0159 a0002c0002t0010g0161 a0002c0002t0010g0179	20	354	0.0565	565	c.65 others(576): Show c.6528_*6529insCCCCCCACCTCCCACCCACACCCCTACTCCCATC CCCCCACCTCCCCACTCCCACCCCTACTCCCATCCCCACCACCATCTCCC CCACCCCTACTCCCAACCCCTCACCTCCACCACACCCATCTCTACTCCCA TCCCCCCACCTCCCACTCCCACCCCTACTCCCAACCCCTCACCTCCACCA ACCCTACCCCTACTCCCATCCCCCCACCTCCCACCCCACCCCTACTCCCA TTCCCCCACCTCCCACTCCCACCCCTACTCCCAGTCCCCCACCTCCCACC CTCATCCCTACTCCCATCCCCCCACTTCCCACCCCACCCCTACTCCCAAC CCCTCACCTGCACCACACCCATCCCTACTCCCATCCCCCCACCTCCCACC CCCACCCCTACTCCTAACCCCTCACCTGCACCACACCCATCCCTACTCCC ATCCCCCCACCCCTACTCCCAACCCCTCACCTGCACCACACCCACCCCTA CTCCCAACCCCCCACCTCCCACCCCCATCCCTACTCCCATCCCCCCACCT CCCCTTTCCCACCCCTACTCCCATCCCCACC	P2RX3	ENSG00000109991.10	transcript	ENST00000263314.3	protein_coding		4130		chr11	TogoVar
P2RX3_chr11_57333352_57377396	57376525	A A	ACCCCCCA others(558): Show ACCCCCCACCTCCCACCCACACCCCTACTCCCATCCCCCCACCTCCCCAC TCCCACCCCTACTCCCATCCCCACCACCATCTCCCCCACCCCTACTCCCA ACCCCTCACCTCCACCACACCCATCTCTACTCCCATCCCCCCACCTCCCA CTCCCACCCCTACTCCCAACCCCTCACCTCCACCAACCCTACCCCTACTC CCATCCCCCCACCTCCCACCCCACCCCTACTCCCATTCCCCCACCTCCCA CTCCCACCCCTACTCCCAGTCCCCCACCTCCCACCCTCATCCCTACTCCC ATCCCCCCACTTCCCACCCCACCCCTACTCCCAACCCCTCACCTGCACCA CACCCATCCCTACTCCCATCCCCCCACCTCCCACCCCCACCCCTACTCCT AACCCCTCACCTGCACCACACCCATCCCTACTCCCATCCCCCCACCCCTA CTCTCAACCCCTCACCTGCACCACACCCACCCCTACTCCCAACCCCCCAC CTCCCACCCCCACCCCTACTCCCATCCCCCCACCTCCCCTTTCCCACCCC TACTCCCATCCCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01884.hp2 HG02257.hp2 others(6): Show HG01496.hp1 HG01884.hp2 HG02257.hp2 HG02280.hp1 HG02559.hp2 HG02723.hp1 HG02809.hp2 HG03453.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0009 a0001c0001t0003g0043 a0001c0001t0004g0009 others(3): Show a0001c0001t0003g0009 a0001c0001t0003g0043 a0001c0001t0004g0009 a0001c0001t0004g0010 a0001c0001t0004g0056 a0001c0001t0004g0057	9	354	0.0254	565	c.65 others(576): Show c.6528_*6529insCCCCCCACCTCCCACCCACACCCCTACTCCCATC CCCCCACCTCCCCACTCCCACCCCTACTCCCATCCCCACCACCATCTCCC CCACCCCTACTCCCAACCCCTCACCTCCACCACACCCATCTCTACTCCCA TCCCCCCACCTCCCACTCCCACCCCTACTCCCAACCCCTCACCTCCACCA ACCCTACCCCTACTCCCATCCCCCCACCTCCCACCCCACCCCTACTCCCA TTCCCCCACCTCCCACTCCCACCCCTACTCCCAGTCCCCCACCTCCCACC CTCATCCCTACTCCCATCCCCCCACTTCCCACCCCACCCCTACTCCCAAC CCCTCACCTGCACCACACCCATCCCTACTCCCATCCCCCCACCTCCCACC CCCACCCCTACTCCTAACCCCTCACCTGCACCACACCCATCCCTACTCCC ATCCCCCCACCCCTACTCTCAACCCCTCACCTGCACCACACCCACCCCTA CTCCCAACCCCCCACCTCCCACCCCCACCCCTACTCCCATCCCCCCACCT CCCCTTTCCCACCCCTACTCCCATCCCCACC	P2RX3	ENSG00000109991.10	transcript	ENST00000263314.3	protein_coding		4130		chr11	TogoVar
P2RX3_chr11_57333352_57377396	57376525	A A	ACCCCCCA others(558): Show ACCCCCCACCTCCCACCCACACCCCTACTCCCATCCCCCCACCTCCCCAC TCCCACCCCTACTCCCATCCCCACCACCATCTCCCCCACCCCTACTCCCA ACCCCTCACCTCCACCACACCCATCTCTACTCCCATCCCCCCACCTCCCA CTCCCACCCCTACTCCCAACCCCTCACCTCCACCAACCCTACCCCTACTC CCATCCCCCCACCTCCCACCCCACCCCTACTCCCATTCCCCCACCTCCCA CTCCCACCCCTACTCCCAGTCCCCCACCTCCCACCCTCATCCCTACTCCC ATCCCCCCACTTCCCACCCCACCCCTACTCCCAACCCCTCACCTGCACCA CACCCATCCCTACTCCCATTCCCCCACCTCCCACCCCCACCCCTACTCCT AACCCCTCACCTGCACCACACCCATCCCTACTCCCATCCCCCCACCCCTA CTCCCAACCCCTCACCTGCACCACACCCACCCCTACTCCCAACCCCCCAC CTCCCACCCCCACCCCTACTCCCATCCCCCCACCTCCCCTTTCCCACCCC TACTCCCATCCCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0022 a0003c0004t0022	a0003c0004t0022g0018 a0003c0004t0022g0018	1	354	0.0028	565	c.65 others(576): Show c.6528_*6529insCCCCCCACCTCCCACCCACACCCCTACTCCCATC CCCCCACCTCCCCACTCCCACCCCTACTCCCATCCCCACCACCATCTCCC CCACCCCTACTCCCAACCCCTCACCTCCACCACACCCATCTCTACTCCCA TCCCCCCACCTCCCACTCCCACCCCTACTCCCAACCCCTCACCTCCACCA ACCCTACCCCTACTCCCATCCCCCCACCTCCCACCCCACCCCTACTCCCA TTCCCCCACCTCCCACTCCCACCCCTACTCCCAGTCCCCCACCTCCCACC CTCATCCCTACTCCCATCCCCCCACTTCCCACCCCACCCCTACTCCCAAC CCCTCACCTGCACCACACCCATCCCTACTCCCATTCCCCCACCTCCCACC CCCACCCCTACTCCTAACCCCTCACCTGCACCACACCCATCCCTACTCCC ATCCCCCCACCCCTACTCCCAACCCCTCACCTGCACCACACCCACCCCTA CTCCCAACCCCCCACCTCCCACCCCCACCCCTACTCCCATCCCCCCACCT CCCCTTTCCCACCCCTACTCCCATCCCCACC	P2RX3	ENSG00000109991.10	transcript	ENST00000263314.3	protein_coding		4130		chr11	TogoVar
P2RX3_chr11_57333352_57377396	57376525	A A	ACCCCCCA others(558): Show ACCCCCCACCTCCCACCCACACCCCTACTCCCATCCCCCCACCTCCCCAC TCCCACCCCTACTCCCATCCCCACCACCATCTCCCCCACCCCTACTCCCA ACCCCTCACCTCCACCACACCCATCTCTACTCCCATCCCCCCACCTCCCA CTCCCACCCCTACTCCCAACCCCTCACCTCCACCAACCCTACCCCTACTC CCCTCCCCCCACCTCCCACCCCACCCCTACTCCCATTCCCCCACCTCCCA CTCCCACCCCTACTCCCAGTCCCCCACCTCCCACCCTCATCCCTACTCCC ATCCCCCCACTTCCCACCCCACCCCTACTCCCAACCCCTCACCTGCACCA CACCCATCCCTACTCCCATCCCCCCACCTCCCACCCCCACCCCTACTCCT AACCCCTCACCTGCACCACACCCATCCCTACTCCCATCCCCCCACCCCTA CTCCCAACCCCTCACCTGCACCACACCCACCCCTACTCCCAACCCCCCAC CTCCCACCCCCACCCCTACTCCCATCCCCCCACCTCCCCTTTCCCACCCC TACTCCCATCCCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0206 a0001c0001t0002g0206	1	354	0.0028	565	c.65 others(576): Show c.6528_*6529insCCCCCCACCTCCCACCCACACCCCTACTCCCATC CCCCCACCTCCCCACTCCCACCCCTACTCCCATCCCCACCACCATCTCCC CCACCCCTACTCCCAACCCCTCACCTCCACCACACCCATCTCTACTCCCA TCCCCCCACCTCCCACTCCCACCCCTACTCCCAACCCCTCACCTCCACCA ACCCTACCCCTACTCCCCTCCCCCCACCTCCCACCCCACCCCTACTCCCA TTCCCCCACCTCCCACTCCCACCCCTACTCCCAGTCCCCCACCTCCCACC CTCATCCCTACTCCCATCCCCCCACTTCCCACCCCACCCCTACTCCCAAC CCCTCACCTGCACCACACCCATCCCTACTCCCATCCCCCCACCTCCCACC CCCACCCCTACTCCTAACCCCTCACCTGCACCACACCCATCCCTACTCCC ATCCCCCCACCCCTACTCCCAACCCCTCACCTGCACCACACCCACCCCTA CTCCCAACCCCCCACCTCCCACCCCCACCCCTACTCCCATCCCCCCACCT CCCCTTTCCCACCCCTACTCCCATCCCCACC	P2RX3	ENSG00000109991.10	transcript	ENST00000263314.3	protein_coding		4130		chr11	TogoVar
P2RX3_chr11_57333352_57377396	57376525	A A	ACCCCCCA others(558): Show ACCCCCCACCTCCCACCCACACCCCTACTCCCATCCCCCCATCTCCCCAC TCCCACCCCTACTCCCATCCCCACCACCATCTCCCCCACCCCTACTCCCA ACCCCTCACCTCCACCACACCCATCTCTACTCCCATCCCCCCACCTCCCA CTCCCACCCCTACTCCCAACCCCTCACCTCCACCAACCCTACCCCTACTC CCATCCCCCCACCTCCCACCCCACCCCTACTCCCATTCCCCCACCTCCCA CTCCCACCCCTACTCCCAGTCCCCCACCTCCCACCCTCATCCCTACTCCC ATCCCCCCACCTCCCACCCCACCCCTACTCCCAACCCCTCACCTGCACCA CACCCATCCCTACTCCCATCCCCCCACCTCCCACCCCCACCCCTACTCCT AACCCCTCACCTGCACCACACCCATCCCTACTCCCATCCCCCCACCCCTA CTCCCAACCCCTCACCTGCACCACACCCACCCCTACTCCCAACCCCCCAC CTCCCACCCCCACCCCTACTCCCATCCCCCCACCTCCCCTTTCCCACCCC TACTCCCATCCCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0112 a0002c0002t0001g0112	1	354	0.0028	565	c.65 others(576): Show c.6528_*6529insCCCCCCACCTCCCACCCACACCCCTACTCCCATC CCCCCATCTCCCCACTCCCACCCCTACTCCCATCCCCACCACCATCTCCC CCACCCCTACTCCCAACCCCTCACCTCCACCACACCCATCTCTACTCCCA TCCCCCCACCTCCCACTCCCACCCCTACTCCCAACCCCTCACCTCCACCA ACCCTACCCCTACTCCCATCCCCCCACCTCCCACCCCACCCCTACTCCCA TTCCCCCACCTCCCACTCCCACCCCTACTCCCAGTCCCCCACCTCCCACC CTCATCCCTACTCCCATCCCCCCACCTCCCACCCCACCCCTACTCCCAAC CCCTCACCTGCACCACACCCATCCCTACTCCCATCCCCCCACCTCCCACC CCCACCCCTACTCCTAACCCCTCACCTGCACCACACCCATCCCTACTCCC ATCCCCCCACCCCTACTCCCAACCCCTCACCTGCACCACACCCACCCCTA CTCCCAACCCCCCACCTCCCACCCCCACCCCTACTCCCATCCCCCCACCT CCCCTTTCCCACCCCTACTCCCATCCCCACC	P2RX3	ENSG00000109991.10	transcript	ENST00000263314.3	protein_coding		4130		chr11	TogoVar
P2RX3_chr11_57333352_57377396	57376525	A A	ACTCCCCA others(558): Show ACTCCCCACCTCCCACCCACACCCCTACTCCCATCCCCCCACCTCCCCAC TCCCACCCCTACTCCCATCCCCACCACCATCTCCCCCACCCCTACTCCCA ACCCCTCACCTCCACCACACCCATCTCTACTCCCATCCCCCCACCTCCCA CTCCCACCCCTACTCCCAACCCCTCACCTCCACCAACCCTACCCCTACTC CCATCCCCCCACCTCCCACCCCACCCCTACTCCCATTCCCCCACCTCCCA CTCCCACCCCTACTCCCAGTCCCCCACCTCCCACCCTCATCCCTACTCCC ATCCCCCCACTTCCCACCCCACCCCTACTCCCAACCCCTCACCTGCACCA CACCCATCCCTACTCCCATCCCCCCACCTCCCACCCCCACCCCTACTCCT AACCCCTCACCTGCACCACACCCATCCCTACTCCCATCCCCCCACCCCTA CTCCCAACCCCTCACCTGCACCACACCCACCCCTACTCCCAACCCCCCAC CTCCCACCCCCACCCCTACTCCCATCCCCCCACCTCCCCTTTCCCACCCC TACTCCCATCCCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00639.hp2 HG00642.hp2 others(9): Show HG00323.hp2 HG00639.hp2 HG00642.hp2 HG01123.hp1 HG01256.hp1 HG01261.hp1 HG01433.hp1 HG01515.hp2 HG01517.hp1 HG02683.hp1 HG03017.hp1 HG03654.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0064 others(8): Show a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0064 a0001c0001t0002g0077 a0001c0001t0002g0098 a0001c0001t0002g0109 a0002c0002t0001g0029 a0002c0002t0001g0130 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0148	12	354	0.0339	565	c.65 others(576): Show c.6528_*6529insCTCCCCACCTCCCACCCACACCCCTACTCCCATC CCCCCACCTCCCCACTCCCACCCCTACTCCCATCCCCACCACCATCTCCC CCACCCCTACTCCCAACCCCTCACCTCCACCACACCCATCTCTACTCCCA TCCCCCCACCTCCCACTCCCACCCCTACTCCCAACCCCTCACCTCCACCA ACCCTACCCCTACTCCCATCCCCCCACCTCCCACCCCACCCCTACTCCCA TTCCCCCACCTCCCACTCCCACCCCTACTCCCAGTCCCCCACCTCCCACC CTCATCCCTACTCCCATCCCCCCACTTCCCACCCCACCCCTACTCCCAAC CCCTCACCTGCACCACACCCATCCCTACTCCCATCCCCCCACCTCCCACC CCCACCCCTACTCCTAACCCCTCACCTGCACCACACCCATCCCTACTCCC ATCCCCCCACCCCTACTCCCAACCCCTCACCTGCACCACACCCACCCCTA CTCCCAACCCCCCACCTCCCACCCCCACCCCTACTCCCATCCCCCCACCT CCCCTTTCCCACCCCTACTCCCATCCCCACC	P2RX3	ENSG00000109991.10	transcript	ENST00000263314.3	protein_coding		4130		chr11	TogoVar
P2RX3_chr11_57333352_57377396	57376525	A A	ACTCCCCA others(558): Show ACTCCCCACCTCCCACCCACACCCCTACTCCCATCCCCCCACCTCCCCAC TCCCACCCCTACTCCCATCCCCACCACCATCTCCCCCACCCCTACTCCCA ACCCCTCACCTCCACCACACCCATCTCTACTCCCATCCCCCCACCTCCCA CTCCCACCCCTACTCCCAACCCCTCACCTCCACCAACCCTACCCCTACTC CCATCCCCCCACCTCCCACCCCACCCCTACTCCCATTCCCCCACCTCCCA TTCCCACCCCTACTCCCAGTCCCCCACCTCCCACCCTCATCCCTACTCCC ATCCCCCCACTTCCCACCCCACCCCTACTCCCAACCCCTCACCTGCACCA CACCCATCCCTACTCCCATCCCCCCACCTCCCACCCCCACCCCTACTCCT AACCCCTCACCTGCACCACACCCATCCCTACTCCCATCCCCCCACCCCTA CTCCCAACCCCTCACCTGCACCACACCCACCCCTACTCCCAACCCCCCAC CTCCCACCCCCACCCCTACTCCCATCCCCCCACCTCCCCTTTCCCACCCC TACTCCCATCCCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0216 a0002c0002t0001g0216	1	354	0.0028	565	c.65 others(576): Show c.6528_*6529insCTCCCCACCTCCCACCCACACCCCTACTCCCATC CCCCCACCTCCCCACTCCCACCCCTACTCCCATCCCCACCACCATCTCCC CCACCCCTACTCCCAACCCCTCACCTCCACCACACCCATCTCTACTCCCA TCCCCCCACCTCCCACTCCCACCCCTACTCCCAACCCCTCACCTCCACCA ACCCTACCCCTACTCCCATCCCCCCACCTCCCACCCCACCCCTACTCCCA TTCCCCCACCTCCCATTCCCACCCCTACTCCCAGTCCCCCACCTCCCACC CTCATCCCTACTCCCATCCCCCCACTTCCCACCCCACCCCTACTCCCAAC CCCTCACCTGCACCACACCCATCCCTACTCCCATCCCCCCACCTCCCACC CCCACCCCTACTCCTAACCCCTCACCTGCACCACACCCATCCCTACTCCC ATCCCCCCACCCCTACTCCCAACCCCTCACCTGCACCACACCCACCCCTA CTCCCAACCCCCCACCTCCCACCCCCACCCCTACTCCCATCCCCCCACCT CCCCTTTCCCACCCCTACTCCCATCCCCACC	P2RX3	ENSG00000109991.10	transcript	ENST00000263314.3	protein_coding		4130		chr11	TogoVar
PCCA_chr13_100084093_100535435	100451913	T T	TCTTCCTC others(558): Show TCTTCCTCTCCTCTCTCTCTCTCTCCTCTTCCTCTCTCTCTTCTTCCTCT CTCTGCTCTTCCTCTCCTCTCTCCTCTTCCTCTCCTCTCTCTCTTCTCTC CTCTCTTCTTCCTCTCTCTCTCCTCTCTGTCTCTCCTCTTCCTCTCGTCT CTCTCTTCTCTCCTCTTCTTCCTCTCTCTCCTCTTCCTCTCTCTCTTCTT CCTCTGTCTTCTCTTCCTCTCCTCTCTGTCTCTCTCCTCTTCCCCTCTTT CTCCTCTTCCCCTCTCTCTCTCCTCTTCCCCTCTCTCTCCTCTTGCCCCC CTCTCTCCTCTTCCTCTCTCCTTTTCCTCTCTCTCTCTCCTCTTCCTCTC TCTCTCCTCTTCCTCTCTCTCCTTTTCCTCTCTCTCTCTCCTATTCCTCT CTCTCTCTCCTCTCTCCTCTTCCTCTCTCTCTCTCCTCTTCCTCTCTCTC CCTCCTCTTCCTCTCTCTCCCTCCTCTTCCTCTCTCCCTCCTCTTCCTCT CTCTCTCCTCTTCCTCTCTCTCTCCTCTTCCTCTCTCTCTCTCCTCTTCC TCTCTCTCTCCTCTTC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	174	0.0058	565	c.189 others(584): Show c.1899+2610_1899+2611insTCCTCTCCTCTCTCTCTCTCTCCTCT TCCTCTCTCTCTTCTTCCTCTCTCTGCTCTTCCTCTCCTCTCTCCTCTTC CTCTCCTCTCTCTCTTCTCTCCTCTCTTCTTCCTCTCTCTCTCCTCTCTG TCTCTCCTCTTCCTCTCGTCTCTCTCTTCTCTCCTCTTCTTCCTCTCTCT CCTCTTCCTCTCTCTCTTCTTCCTCTGTCTTCTCTTCCTCTCCTCTCTGT CTCTCTCCTCTTCCCCTCTTTCTCCTCTTCCCCTCTCTCTCTCCTCTTCC CCTCTCTCTCCTCTTGCCCCCCTCTCTCCTCTTCCTCTCTCCTTTTCCTC TCTCTCTCTCCTCTTCCTCTCTCTCTCCTCTTCCTCTCTCTCCTTTTCCT CTCTCTCTCTCCTATTCCTCTCTCTCTCTCCTCTCTCCTCTTCCTCTCTC TCTCTCCTCTTCCTCTCTCTCCCTCCTCTTCCTCTCTCTCCCTCCTCTTC CTCTCTCCCTCCTCTTCCTCTCTCTCTCCTCTTCCTCTCTCTCTCCTCTT CCTCTCTCTCTCTCCTCTTCCTCTCTCTCTCCTCTTCCT	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(558): Show TTTCAGAATAGATCTATTCAGAATAGATCTATTCAGAATAGATCTTTTCA GAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATA GATCTTTTCAGAATAGATCTATTCTGAATAGATCTTTTCAGAATAGATCT ATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCA GAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATA GATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCT ATTCAGAATAGATCTTTTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0075 a0001c0002t0001g0075	1	262	0.0038	565	c.129 others(582): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCAGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAATAGATCTATTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(558): Show TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTTTTCA GAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATA GATCTTTTCAGAATAGATCTATTCTGAATAGATCTTTTCAGAATAGATCT ATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCA GAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATA GATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCT ATTCAGAATAGATCTTTTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTA	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0221 a0001c0001t0002g0221	1	262	0.0038	565	c.129 others(582): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCAGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(558): Show TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTTTTCA GAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATA GATCTTTTCAGAATAGATCTATTCTGAATAGATCTTTTCAGAATAGATCT ATTCTGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCA GAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATA GATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCT ATTCGGAATAGATCTTTTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	262	0.0038	565	c.129 others(582): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCTATTCAGAATAGATCTATTCTG AAAAGATCTATTCAGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(558): Show TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTTTTCA GAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATA GATCTTTTCAGAATAGATCTATTCTGAATAGATCTTTTCAGAATAGATCT ATTCTGAATAGATCTTTTCAGAATAGATCTATTCTGAATAGATCTTTTCA GAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATA GATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCT ATTCAGAATAGATCTTTTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0223 a0001c0001t0002g0223	1	262	0.0038	565	c.129 others(582): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCAGAATAGATCTATTCTGAAAAGATCTATTCAGAATAGATCTATTCTG AAAAGATCTATTCAGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(558): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCT TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTATTCGGAATA GATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATAGATCT ATTCGGAATAGATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCA GAATAGATCTATTCGGATCTTTTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCAGAATAGATCTATTCGGATCT ATTCAGAATAGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTA	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	262	0.0038	565	c.129 others(582): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTG AATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCG AATAGATCTATTCTGAAAAGATCCGAATAGATCTATTCTGAAAAGATCTA TTCCGAATAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTG AAAAGATCTATTCCGAATAGATCTATTCTGAAAAGATCTATTCCGAATAG ATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAG ATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(558): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCT TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTATTCGGAATA GATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATAGATCT ATTCGGAATAGATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCA GAATAGATCTTTTCGGATCTTTTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCAGAATAGATCTATTCGGATCT ATTCAGAATAGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0025 a0001c0002t0001g0025	1	262	0.0038	565	c.129 others(582): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTG AATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCG AATAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCTA TTCCGAATAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTG AAAAGATCTATTCCGAATAGATCTATTCTGAAAAGATCTATTCCGAATAG ATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAG ATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(558): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCT TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCT TTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATAGATCTATTCG GAATAGATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATA GATCTATTCGGAATAGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG03704.hp2 HG03942.hp2 HG01257.hp1 HG03704.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0060 a0001c0001t0001g0259 a0001c0002t0002g0054 a0001c0001t0001g0060 a0001c0001t0001g0259 a0001c0002t0002g0054	3	262	0.0115	565	c.129 others(582): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCTATTCTG AATAGATCCGAATAGATCTATTCTGAATAGATCTATTCTGAATAGATCCG AATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAAAAGATCCG AAAAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTGAAAAG ATCTATTCCGAATAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTA TTCTGAAAAGATCTATTCCGAATAGATCTATTCTGAAAAGATCCGAAAAG ATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAG ATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PNPLA7_chr9_137454952_137555402	137503786	G G	GACAAAAG others(558): Show GACAAAAGAAGAGAGAAGAAGAAAGAAATAGAAAGAAGAAGGGAGAAGGA AGAAGGAAGAAGAAAGAAGAAGAAGGAAGAAGAAGGAAGAAGAAGCAGAA AGAAGAAGAAGAAGGAAGAAGGAGGAAGAAGGAAGAAGAAGGAAGAAGGA AGAAGAAGAAGGAAGAAGGAAAAAGAAGGAAGAAAAAGAAGGAAGAAAGA AGAAGAAGGAAGAAGAAAGAAGAAGAAGAAGGAAGAAGGAAGAAGAAAGA AGGAAGAAGAAGAAGGAAGAAGGAAGGAGAAGGAAGAAGGAAGAAAGAAG AAGAAGGAAGAAGGAAGAAGAAGGAAGAAGGAACAAGAAGGAAGAAAAAG AAGGAAGAAGGAAGAAGAAAGAAGAAGGAAGAAGAAGAAAGAAAGAAGAA AGAAGAAGAAAGAAGAAAGGAAGAAGAAAAAAGGAAGAGGAAGAAAAGAA GAAGGAAGAAGAAAGAAGGAAGAAGAAGAAGGAAGAAGGAAGAAGAAGAA GGAAGAAGAAGAAGGAAGAAGGAAGAAGAAGAAGGAAGAAGAAGAAGGAA GAAGGAAGAAGAAGGA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	188	0.0053	565	c.147 others(584): Show c.1473+1827_1473+1828insTCCTTCTTCTTCCTTCTTCCTTCTTC TTCTTCCTTCTTCTTCTTCCTTCTTCCTTCTTCTTCTTCCTTCTTCTTCT TCCTTCTTCCTTCTTCTTCTTCCTTCTTTCTTCTTCCTTCTTCTTTTCTT CCTCTTCCTTTTTTCTTCTTCCTTTCTTCTTTCTTCTTCTTTCTTCTTTC TTTCTTCTTCTTCCTTCTTCTTTCTTCTTCCTTCTTCCTTCTTTTTCTTC CTTCTTGTTCCTTCTTCCTTCTTCTTCCTTCTTCCTTCTTCTTCTTTCTT CCTTCTTCCTTCTCCTTCCTTCTTCCTTCTTCTTCTTCCTTCTTTCTTCT TCCTTCTTCCTTCTTCTTCTTCTTTCTTCTTCCTTCTTCTTCTTTCTTCC TTCTTTTTCTTCCTTCTTTTTCCTTCTTCCTTCTTCTTCTTCCTTCTTCC TTCTTCTTCCTTCTTCCTCCTTCTTCCTTCTTCTTCTTCTTTCTGCTTCT TCTTCCTTCTTCTTCCTTCTTCTTCTTTCTTCTTCCTTCTTCCTTCTCCC TTCTTCTTTCTATTTCTTTCTTCTTCTCTCTTCTTTTGT	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PPP6R2_chr22_50338327_50450090	50397738	A A	AGTGTGAC others(558): Show AGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCCTGTCA TCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGC CTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGAC TTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAG TTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCA CCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGG GGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCT GAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTT GTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGG GGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGTG TGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTC TGAGTTTTTCTCTGAG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0290 a0001c0008t0004g0290	1	340	0.0029	565	c.227 others(582): Show c.227+3604_227+3605insTGTGACTTGGGATGGGGGCGGGGGGGCC TGTCCTCACCAGCCCTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACT TGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGC TTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCA CCAGCCCTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGG GGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTG AGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTG TCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGG GGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGT GACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCT GAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTC CTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50397738	A A	AGTGTGAC others(558): Show AGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCA TCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCC TGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACT TGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGC TTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCA CCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGG GGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCCCTCTGAGCTTTTCTC TGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCC TGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGG GGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGT GTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCACCAGCCTTGTCATCTC TGAGCTTTTCTCTGAG	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	340	0.0029	565	c.227 others(582): Show c.227+3604_227+3605insTGTGACTTGGGATGGGGGCGGGGGGGCC TGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACT TGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCT TTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCAC CAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGG GGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTG AGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGT CATCCCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGG GGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGTG TGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTC TGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTC CTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PRG3_chr11_57371769_57386150	57376525	A A	ACCCCCCA others(558): Show ACCCCCCACCTCCCACCCACACCCCTACTCCCATCCCCCCACCTCCCCAC TCCCACCCCTACTCCCATCCCCACCACCATCTCCCCCACCCCTACTCCCA ACCCCTCACCTCCACCACACCCATCTCTACTCCCATCCCCCCACCTCCCA CTCCCACCCCTACTCCCAACCCCTCACCTCCACCAACCCTACCCCTACTC CCATCCCCCCACCTCCCACCCCACCCCTACTCCCATTCCCCCACCTCCCA CTCCCACCCCTACTCCCAGTCCCCCACCTCCCACCCTCATCCCTACTCCC ATCCCCCCACTTCCCACCCCACCCCTACTCCCAACCCCTCACCTGCACCA CACCCATCCCTACTCCCATCCCCCCACCTCCCACCCCCACCACTACTCCT AACCCCTCACCTGCACCACACCCATCCCTACTCCCATCCCCCCACCCCTA CTCTCAACCCCTCACCTGCACCACACCCACCCCTACTCCCAACCCCCCAC CTCCCACCCCCACCCCTACTCCCATCCCCCCACCTCCCCTTTCCCACCCC TACTCCCATCCCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG02027.hp1 HG02165.hp2 HG00544.hp1 HG02027.hp1 HG02165.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0026 a0005c0006t0001g0053 a0005c0006t0001g0026 a0005c0006t0001g0053	3	396	0.0076	565	c.32 others(574): Show c.324_*325insGGTGGGGATGGGAGTAGGGGTGGGAAAGGGGAGGTG GGGGGATGGGAGTAGGGGTGGGGGTGGGAGGTGGGGGGTTGGGAGTAGGG GTGGGTGTGGTGCAGGTGAGGGGTTGAGAGTAGGGGTGGGGGGATGGGAG TAGGGATGGGTGTGGTGCAGGTGAGGGGTTAGGAGTAGTGGTGGGGGTGG GAGGTGGGGGGATGGGAGTAGGGATGGGTGTGGTGCAGGTGAGGGGTTGG GAGTAGGGGTGGGGTGGGAAGTGGGGGGATGGGAGTAGGGATGAGGGTGG GAGGTGGGGGACTGGGAGTAGGGGTGGGAGTGGGAGGTGGGGGAATGGGA GTAGGGGTGGGGTGGGAGGTGGGGGGATGGGAGTAGGGGTAGGGTTGGTG GAGGTGAGGGGTTGGGAGTAGGGGTGGGAGTGGGAGGTGGGGGGATGGGA GTAGAGATGGGTGTGGTGGAGGTGAGGGGTTGGGAGTAGGGGTGGGGGAG ATGGTGGTGGGGATGGGAGTAGGGGTGGGAGTGGGGAGGTGGGGGGATGG GAGTAGGGGTGTGGGTGGGAGGTGGGGGG	PRG3	ENSG00000156575.2	transcript	ENST00000287143.2	protein_coding		243		chr11	TogoVar
PRG3_chr11_57371769_57386150	57376525	A A	ACCCCCCA others(558): Show ACCCCCCACCTCCCACCCACACCCCTACTCCCATCCCCCCACCTCCCCAC TCCCACCCCTACTCCCATCCCCACCACCATCTCCCCCACCCCTACTCCCA ACCCCTCACCTCCACCACACCCATCTCTACTCCCATCCCCCCACCTCCCA CTCCCACCCCTACTCCCAACCCCTCACCTCCACCAACCCTACCCCTACTC CCATCCCCCCACCTCCCACCCCACCCCTACTCCCATTCCCCCACCTCCCA CTCCCACCCCTACTCCCAGTCCCCCACCTCCCACCCTCATCCCTACTCCC ATCCCCCCACTTCCCACCCCACCCCTACTCCCAACCCCTCACCTGCACCA CACCCATCCCTACTCCCATCCCCCCACCTCCCACCCCCACCCCTACTCCT AACCCCTCACCTGCACCACACCCATCCCTACTCCCATCCCCCCACCCCTA CTCCCAACCCCTCACCTGCACCACACCCACCCCTACTCCCAACCCCCCAC CTCCCACCCCCACCCCTACTCCCATCCCCCCACCTCCCCTTTCCCACCCC TACTCCCATCCCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(306): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18991.hp2 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0006 a0007	a0001c0001 a0001c0003 a0003c0004 others(3): Show a0001c0001 a0001c0003 a0003c0004 a0004c0005 a0006c0007 a0007c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0003t0001 a0003c0004t0001 a0004c0005t0001 a0006c0007t0001 a0007c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(41): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0002g0027 a0001c0001t0003g0028 a0001c0001t0004g0030 a0001c0003t0001g0008 a0003c0004t0001g0013 a0003c0004t0001g0048 a0004c0005t0001g0015 a0006c0007t0001g0022 a0007c0008t0001g0047	309	396	0.7803	565	c.32 others(574): Show c.324_*325insGGTGGGGATGGGAGTAGGGGTGGGAAAGGGGAGGTG GGGGGATGGGAGTAGGGGTGGGGGTGGGAGGTGGGGGGTTGGGAGTAGGG GTGGGTGTGGTGCAGGTGAGGGGTTGGGAGTAGGGGTGGGGGGATGGGAG TAGGGATGGGTGTGGTGCAGGTGAGGGGTTAGGAGTAGGGGTGGGGGTGG GAGGTGGGGGGATGGGAGTAGGGATGGGTGTGGTGCAGGTGAGGGGTTGG GAGTAGGGGTGGGGTGGGAAGTGGGGGGATGGGAGTAGGGATGAGGGTGG GAGGTGGGGGACTGGGAGTAGGGGTGGGAGTGGGAGGTGGGGGAATGGGA GTAGGGGTGGGGTGGGAGGTGGGGGGATGGGAGTAGGGGTAGGGTTGGTG GAGGTGAGGGGTTGGGAGTAGGGGTGGGAGTGGGAGGTGGGGGGATGGGA GTAGAGATGGGTGTGGTGGAGGTGAGGGGTTGGGAGTAGGGGTGGGGGAG ATGGTGGTGGGGATGGGAGTAGGGGTGGGAGTGGGGAGGTGGGGGGATGG GAGTAGGGGTGTGGGTGGGAGGTGGGGGG	PRG3	ENSG00000156575.2	transcript	ENST00000287143.2	protein_coding		243		chr11	TogoVar
PRG3_chr11_57371769_57386150	57376525	A A	ACCCCCCA others(558): Show ACCCCCCACCTCCCACCCACACCCCTACTCCCATCCCCCCACCTCCCCAC TCCCACCCCTACTCCCATCCCCACCACCATCTCCCCCACCCCTACTCCCA ACCCCTCACCTCCACCACACCCATCTCTACTCCCATCCCCCCACCTCCCA CTCCCACCCCTACTCCCAACCCCTCACCTCCACCAACCCTACCCCTACTC CCATCCCCCCACCTCCCACCCCACCCCTACTCCCATTCCCCCACCTCCCA CTCCCACCCCTACTCCCAGTCCCCCACCTCCCACCCTCATCCCTACTCCC ATCCCCCCACTTCCCACCCCACCCCTACTCCCAACCCCTCACCTGCACCA CACCCATCCCTACTCCCATCCCCCCACCTCCCACCCCCACCCCTACTCCT AACCCCTCACCTGCACCACACCCATCCCTACTCCCATCCCCCCACCCCTA CTCCCAACCCCTCACCTGCACCACACCCACCCCTACTCCCAACCCCCCAC CTCCCACCCCCATCCCTACTCCCATCCCCCCACCTCCCCTTTCCCACCCC TACTCCCATCCCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG01243.hp1 HG01884.hp1 others(25): Show HG00609.hp2 HG01243.hp1 HG01884.hp1 HG02015.hp1 HG02630.hp1 HG02647.hp2 HG02809.hp2 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18968.hp1 NA18977.hp2 NA18993.hp1 NA18998.hp2 NA19003.hp1 NA19004.hp1 NA19011.hp1 NA19011.hp2 NA19055.hp1 NA19060.hp1 NA19064.hp1 NA19065.hp1 NA19074.hp2 NA19089.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0003 a0001c0001t0001g0032 a0001c0001t0001g0038	28	396	0.0707	565	c.32 others(574): Show c.324_*325insGGTGGGGATGGGAGTAGGGGTGGGAAAGGGGAGGTG GGGGGATGGGAGTAGGGATGGGGGTGGGAGGTGGGGGGTTGGGAGTAGGG GTGGGTGTGGTGCAGGTGAGGGGTTGGGAGTAGGGGTGGGGGGATGGGAG TAGGGATGGGTGTGGTGCAGGTGAGGGGTTAGGAGTAGGGGTGGGGGTGG GAGGTGGGGGGATGGGAGTAGGGATGGGTGTGGTGCAGGTGAGGGGTTGG GAGTAGGGGTGGGGTGGGAAGTGGGGGGATGGGAGTAGGGATGAGGGTGG GAGGTGGGGGACTGGGAGTAGGGGTGGGAGTGGGAGGTGGGGGAATGGGA GTAGGGGTGGGGTGGGAGGTGGGGGGATGGGAGTAGGGGTAGGGTTGGTG GAGGTGAGGGGTTGGGAGTAGGGGTGGGAGTGGGAGGTGGGGGGATGGGA GTAGAGATGGGTGTGGTGGAGGTGAGGGGTTGGGAGTAGGGGTGGGGGAG ATGGTGGTGGGGATGGGAGTAGGGGTGGGAGTGGGGAGGTGGGGGGATGG GAGTAGGGGTGTGGGTGGGAGGTGGGGGG	PRG3	ENSG00000156575.2	transcript	ENST00000287143.2	protein_coding		243		chr11	TogoVar
PRG3_chr11_57371769_57386150	57376525	A A	ACCCCCCA others(558): Show ACCCCCCACCTCCCACCCACACCCCTACTCCCATCCCCCCACCTCCCCAC TCCCACCCCTACTCCCATCCCCACCACCATCTCCCCCACCCCTACTCCCA ACCCCTCACCTCCACCACACCCATCTCTACTCCCATCCCCCCACCTCCCA CTCCCACCCCTACTCCCAACCCCTCACCTCCACCAACCCTACCCCTACTC CCATCCCCCCACCTCCCACCCCACCCCTACTCCCATTCCCCCACCTCCCA CTCCCACCCCTACTCCCAGTCCCCCACCTCCCACCCTCATCCCTACTCCC ATCCCCCCACTTCCCACCCCACCCCTACTCCCAACCCCTCACCTGCACCA CACCCATCCCTACTCCCATCCCCCCACCTCCCACCCCCACCCCTACTCCT AACCCCTCACCTGCACCACACCCATCCCTACTCCCATCCCCCCACCCCTA CTCTCAACCCCTCACCTGCACCACACCCACCCCTACTCCCAACCCCCCAC CTCCCACCCCCACCCCTACTCCCATCCCCCCACCTCCCCTTTCCCACCCC TACTCCCATCCCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01884.hp2 HG02257.hp1 others(6): Show HG01496.hp1 HG01884.hp2 HG02257.hp1 HG02280.hp2 HG02559.hp2 HG02723.hp1 HG02809.hp1 HG03453.hp2 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0018 a0002c0002t0001g0011 a0002c0002t0001g0018	9	396	0.0227	565	c.32 others(574): Show c.324_*325insGGTGGGGATGGGAGTAGGGGTGGGAAAGGGGAGGTG GGGGGATGGGAGTAGGGGTGGGGGTGGGAGGTGGGGGGTTGGGAGTAGGG GTGGGTGTGGTGCAGGTGAGGGGTTGAGAGTAGGGGTGGGGGGATGGGAG TAGGGATGGGTGTGGTGCAGGTGAGGGGTTAGGAGTAGGGGTGGGGGTGG GAGGTGGGGGGATGGGAGTAGGGATGGGTGTGGTGCAGGTGAGGGGTTGG GAGTAGGGGTGGGGTGGGAAGTGGGGGGATGGGAGTAGGGATGAGGGTGG GAGGTGGGGGACTGGGAGTAGGGGTGGGAGTGGGAGGTGGGGGAATGGGA GTAGGGGTGGGGTGGGAGGTGGGGGGATGGGAGTAGGGGTAGGGTTGGTG GAGGTGAGGGGTTGGGAGTAGGGGTGGGAGTGGGAGGTGGGGGGATGGGA GTAGAGATGGGTGTGGTGGAGGTGAGGGGTTGGGAGTAGGGGTGGGGGAG ATGGTGGTGGGGATGGGAGTAGGGGTGGGAGTGGGGAGGTGGGGGGATGG GAGTAGGGGTGTGGGTGGGAGGTGGGGGG	PRG3	ENSG00000156575.2	transcript	ENST00000287143.2	protein_coding		243		chr11	TogoVar
PRG3_chr11_57371769_57386150	57376525	A A	ACCCCCCA others(558): Show ACCCCCCACCTCCCACCCACACCCCTACTCCCATCCCCCCACCTCCCCAC TCCCACCCCTACTCCCATCCCCACCACCATCTCCCCCACCCCTACTCCCA ACCCCTCACCTCCACCACACCCATCTCTACTCCCATCCCCCCACCTCCCA CTCCCACCCCTACTCCCAACCCCTCACCTCCACCAACCCTACCCCTACTC CCATCCCCCCACCTCCCACCCCACCCCTACTCCCATTCCCCCACCTCCCA CTCCCACCCCTACTCCCAGTCCCCCACCTCCCACCCTCATCCCTACTCCC ATCCCCCCACTTCCCACCCCACCCCTACTCCCAACCCCTCACCTGCACCA CACCCATCCCTACTCCCATTCCCCCACCTCCCACCCCCACCCCTACTCCT AACCCCTCACCTGCACCACACCCATCCCTACTCCCATCCCCCCACCCCTA CTCCCAACCCCTCACCTGCACCACACCCACCCCTACTCCCAACCCCCCAC CTCCCACCCCCACCCCTACTCCCATCCCCCCACCTCCCCTTTCCCACCCC TACTCCCATCCCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	396	0.0025	565	c.32 others(574): Show c.324_*325insGGTGGGGATGGGAGTAGGGGTGGGAAAGGGGAGGTG GGGGGATGGGAGTAGGGGTGGGGGTGGGAGGTGGGGGGTTGGGAGTAGGG GTGGGTGTGGTGCAGGTGAGGGGTTGGGAGTAGGGGTGGGGGGATGGGAG TAGGGATGGGTGTGGTGCAGGTGAGGGGTTAGGAGTAGGGGTGGGGGTGG GAGGTGGGGGAATGGGAGTAGGGATGGGTGTGGTGCAGGTGAGGGGTTGG GAGTAGGGGTGGGGTGGGAAGTGGGGGGATGGGAGTAGGGATGAGGGTGG GAGGTGGGGGACTGGGAGTAGGGGTGGGAGTGGGAGGTGGGGGAATGGGA GTAGGGGTGGGGTGGGAGGTGGGGGGATGGGAGTAGGGGTAGGGTTGGTG GAGGTGAGGGGTTGGGAGTAGGGGTGGGAGTGGGAGGTGGGGGGATGGGA GTAGAGATGGGTGTGGTGGAGGTGAGGGGTTGGGAGTAGGGGTGGGGGAG ATGGTGGTGGGGATGGGAGTAGGGGTGGGAGTGGGGAGGTGGGGGGATGG GAGTAGGGGTGTGGGTGGGAGGTGGGGGG	PRG3	ENSG00000156575.2	transcript	ENST00000287143.2	protein_coding		243		chr11	TogoVar
PRG3_chr11_57371769_57386150	57376525	A A	ACCCCCCA others(558): Show ACCCCCCACCTCCCACCCACACCCCTACTCCCATCCCCCCACCTCCCCAC TCCCACCCCTACTCCCATCCCCACCACCATCTCCCCCACCCCTACTCCCA ACCCCTCACCTCCACCACACCCATCTCTACTCCCATCCCCCCACCTCCCA CTCCCACCCCTACTCCCAACCCCTCACCTCCACCAACCCTACCCCTACTC CCCTCCCCCCACCTCCCACCCCACCCCTACTCCCATTCCCCCACCTCCCA CTCCCACCCCTACTCCCAGTCCCCCACCTCCCACCCTCATCCCTACTCCC ATCCCCCCACTTCCCACCCCACCCCTACTCCCAACCCCTCACCTGCACCA CACCCATCCCTACTCCCATCCCCCCACCTCCCACCCCCACCCCTACTCCT AACCCCTCACCTGCACCACACCCATCCCTACTCCCATCCCCCCACCCCTA CTCCCAACCCCTCACCTGCACCACACCCACCCCTACTCCCAACCCCCCAC CTCCCACCCCCACCCCTACTCCCATCCCCCCACCTCCCCTTTCCCACCCC TACTCCCATCCCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	396	0.0025	565	c.32 others(574): Show c.324_*325insGGTGGGGATGGGAGTAGGGGTGGGAAAGGGGAGGTG GGGGGATGGGAGTAGGGGTGGGGGTGGGAGGTGGGGGGTTGGGAGTAGGG GTGGGTGTGGTGCAGGTGAGGGGTTGGGAGTAGGGGTGGGGGGATGGGAG TAGGGATGGGTGTGGTGCAGGTGAGGGGTTAGGAGTAGGGGTGGGGGTGG GAGGTGGGGGGATGGGAGTAGGGATGGGTGTGGTGCAGGTGAGGGGTTGG GAGTAGGGGTGGGGTGGGAAGTGGGGGGATGGGAGTAGGGATGAGGGTGG GAGGTGGGGGACTGGGAGTAGGGGTGGGAGTGGGAGGTGGGGGAATGGGA GTAGGGGTGGGGTGGGAGGTGGGGGGAGGGGAGTAGGGGTAGGGTTGGTG GAGGTGAGGGGTTGGGAGTAGGGGTGGGAGTGGGAGGTGGGGGGATGGGA GTAGAGATGGGTGTGGTGGAGGTGAGGGGTTGGGAGTAGGGGTGGGGGAG ATGGTGGTGGGGATGGGAGTAGGGGTGGGAGTGGGGAGGTGGGGGGATGG GAGTAGGGGTGTGGGTGGGAGGTGGGGGG	PRG3	ENSG00000156575.2	transcript	ENST00000287143.2	protein_coding		243		chr11	TogoVar
PRG3_chr11_57371769_57386150	57376525	A A	ACCCCCCA others(558): Show ACCCCCCACCTCCCACCCACACCCCTACTCCCATCCCCCCATCTCCCCAC TCCCACCCCTACTCCCATCCCCACCACCATCTCCCCCACCCCTACTCCCA ACCCCTCACCTCCACCACACCCATCTCTACTCCCATCCCCCCACCTCCCA CTCCCACCCCTACTCCCAACCCCTCACCTCCACCAACCCTACCCCTACTC CCATCCCCCCACCTCCCACCCCACCCCTACTCCCATTCCCCCACCTCCCA CTCCCACCCCTACTCCCAGTCCCCCACCTCCCACCCTCATCCCTACTCCC ATCCCCCCACCTCCCACCCCACCCCTACTCCCAACCCCTCACCTGCACCA CACCCATCCCTACTCCCATCCCCCCACCTCCCACCCCCACCCCTACTCCT AACCCCTCACCTGCACCACACCCATCCCTACTCCCATCCCCCCACCCCTA CTCCCAACCCCTCACCTGCACCACACCCACCCCTACTCCCAACCCCCCAC CTCCCACCCCCACCCCTACTCCCATCCCCCCACCTCCCCTTTCCCACCCC TACTCCCATCCCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp2 NA18986.hp1 NA18983.hp2 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	396	0.0051	565	c.32 others(574): Show c.324_*325insGGTGGGGATGGGAGTAGGGGTGGGAAAGGGGAGGTG GGGGGATGGGAGTAGGGGTGGGGGTGGGAGGTGGGGGGTTGGGAGTAGGG GTGGGTGTGGTGCAGGTGAGGGGTTGGGAGTAGGGGTGGGGGGATGGGAG TAGGGATGGGTGTGGTGCAGGTGAGGGGTTAGGAGTAGGGGTGGGGGTGG GAGGTGGGGGGATGGGAGTAGGGATGGGTGTGGTGCAGGTGAGGGGTTGG GAGTAGGGGTGGGGTGGGAGGTGGGGGGATGGGAGTAGGGATGAGGGTGG GAGGTGGGGGACTGGGAGTAGGGGTGGGAGTGGGAGGTGGGGGAATGGGA GTAGGGGTGGGGTGGGAGGTGGGGGGATGGGAGTAGGGGTAGGGTTGGTG GAGGTGAGGGGTTGGGAGTAGGGGTGGGAGTGGGAGGTGGGGGGATGGGA GTAGAGATGGGTGTGGTGGAGGTGAGGGGTTGGGAGTAGGGGTGGGGGAG ATGGTGGTGGGGATGGGAGTAGGGGTGGGAGTGGGGAGATGGGGGGATGG GAGTAGGGGTGTGGGTGGGAGGTGGGGGG	PRG3	ENSG00000156575.2	transcript	ENST00000287143.2	protein_coding		243		chr11	TogoVar
PRG3_chr11_57371769_57386150	57376525	A A	ACTCCCCA others(558): Show ACTCCCCACCTCCCACCCACACCCCTACTCCCATCCCCCCACCTCCCCAC TCCCACCCCTACTCCCATCCCCACCACCATCTCCCCCACCCCTACTCCCA ACCCCTCACCTCCACCACACCCATCTCTACTCCCATCCCCCCACCTCCCA CTCCCACCCCTACTCCCAACCCCTCACCTCCACCAACCCTACCCCTACTC CCATCCCCCCACCTCCCACCCCACCCCTACTCCCATTCCCCCACCTCCCA CTCCCACCCCTACTCCCAGTCCCCCACCTCCCACCCTCATCCCTACTCCC ATCCCCCCACTTCCCACCCCACCCCTACTCCCAACCCCTCACCTGCACCA CACCCATCCCTACTCCCATCCCCCCACCTCCCACCCCCACCCCTACTCCT AACCCCTCACCTGCACCACACCCATCCCTACTCCCATCCCCCCACCCCTA CTCCCAACCCCTCACCTGCACCACACCCACCCCTACTCCCAACCCCCCAC CTCCCACCCCCACCCCTACTCCCATCCCCCCACCTCCCCTTTCCCACCCC TACTCCCATCCCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00639.hp2 HG00642.hp1 others(12): Show HG00323.hp1 HG00639.hp2 HG00642.hp1 HG01106.hp2 HG01123.hp2 HG01255.hp2 HG01256.hp1 HG01261.hp1 HG01433.hp1 HG01515.hp2 HG01517.hp2 HG02683.hp1 HG03017.hp1 HG03654.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0029 a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0029	15	396	0.0379	565	c.32 others(574): Show c.324_*325insGGTGGGGATGGGAGTAGGGGTGGGAAAGGGGAGGTG GGGGGATGGGAGTAGGGGTGGGGGTGGGAGGTGGGGGGTTGGGAGTAGGG GTGGGTGTGGTGCAGGTGAGGGGTTGGGAGTAGGGGTGGGGGGATGGGAG TAGGGATGGGTGTGGTGCAGGTGAGGGGTTAGGAGTAGGGGTGGGGGTGG GAGGTGGGGGGATGGGAGTAGGGATGGGTGTGGTGCAGGTGAGGGGTTGG GAGTAGGGGTGGGGTGGGAAGTGGGGGGATGGGAGTAGGGATGAGGGTGG GAGGTGGGGGACTGGGAGTAGGGGTGGGAGTGGGAGGTGGGGGAATGGGA GTAGGGGTGGGGTGGGAGGTGGGGGGATGGGAGTAGGGGTAGGGTTGGTG GAGGTGAGGGGTTGGGAGTAGGGGTGGGAGTGGGAGGTGGGGGGATGGGA GTAGAGATGGGTGTGGTGGAGGTGAGGGGTTGGGAGTAGGGGTGGGGGAG ATGGTGGTGGGGATGGGAGTAGGGGTGGGAGTGGGGAGGTGGGGGGATGG GAGTAGGGGTGTGGGTGGGAGGTGGGGAG	PRG3	ENSG00000156575.2	transcript	ENST00000287143.2	protein_coding		243		chr11	TogoVar
PRG3_chr11_57371769_57386150	57376525	A A	ACTCCCCA others(558): Show ACTCCCCACCTCCCACCCACACCCCTACTCCCATCCCCCCACCTCCCCAC TCCCACCCCTACTCCCATCCCCACCACCATCTCCCCCACCCCTACTCCCA ACCCCTCACCTCCACCACACCCATCTCTACTCCCATCCCCCCACCTCCCA CTCCCACCCCTACTCCCAACCCCTCACCTCCACCAACCCTACCCCTACTC CCATCCCCCCACCTCCCACCCCACCCCTACTCCCATTCCCCCACCTCCCA TTCCCACCCCTACTCCCAGTCCCCCACCTCCCACCCTCATCCCTACTCCC ATCCCCCCACTTCCCACCCCACCCCTACTCCCAACCCCTCACCTGCACCA CACCCATCCCTACTCCCATCCCCCCACCTCCCACCCCCACCCCTACTCCT AACCCCTCACCTGCACCACACCCATCCCTACTCCCATCCCCCCACCCCTA CTCCCAACCCCTCACCTGCACCACACCCACCCCTACTCCCAACCCCCCAC CTCCCACCCCCACCCCTACTCCCATCCCCCCACCTCCCCTTTCCCACCCC TACTCCCATCCCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	396	0.0025	565	c.32 others(574): Show c.324_*325insGGTGGGGATGGGAGTAGGGGTGGGAAAGGGGAGGTG GGGGGATGGGAGTAGGGGTGGGGGTGGGAGGTGGGGGGTTGGGAGTAGGG GTGGGTGTGGTGCAGGTGAGGGGTTGGGAGTAGGGGTGGGGGGATGGGAG TAGGGATGGGTGTGGTGCAGGTGAGGGGTTAGGAGTAGGGGTGGGGGTGG GAGGTGGGGGGATGGGAGTAGGGATGGGTGTGGTGCAGGTGAGGGGTTGG GAGTAGGGGTGGGGTGGGAAGTGGGGGGATGGGAGTAGGGATGAGGGTGG GAGGTGGGGGACTGGGAGTAGGGGTGGGAATGGGAGGTGGGGGAATGGGA GTAGGGGTGGGGTGGGAGGTGGGGGGATGGGAGTAGGGGTAGGGTTGGTG GAGGTGAGGGGTTGGGAGTAGGGGTGGGAGTGGGAGGTGGGGGGATGGGA GTAGAGATGGGTGTGGTGGAGGTGAGGGGTTGGGAGTAGGGGTGGGGGAG ATGGTGGTGGGGATGGGAGTAGGGGTGGGAGTGGGGAGGTGGGGGGATGG GAGTAGGGGTGTGGGTGGGAGGTGGGGAG	PRG3	ENSG00000156575.2	transcript	ENST00000287143.2	protein_coding		243		chr11	TogoVar
RASA3_chr13_113972783_114137623	114044514	C C	CCACCCGC others(558): Show CCACCCGCCTCACTCGCTGAGCCCCCCCGCCCCGCCTCACTCGCTGAGCC CCCCGCCCCGCCTCACTCGCTGAGCCCCCCCCGCCCCGCCTCACTCGCTG AGCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCCCCCGCCCCGCCTCA CTCGCTGAGCTCCCCCCCCGCCTCACTCGCTGAGCCCCCCCCCCCGCCCC GCCTCACTCGCTGAGCTCCCCCCCGCCTCACTCGCTGAGCTCCCCCCCCG CCTCACTCGCTGAGCTCCCCCCCCGCCTCACTCGCTGAGCACCCCCCCGC CGCCTCACTCGCTGAGCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCC CCGCCCCGCCTCACTCGCTGAGCTCCCCCCCCCGCCTCACTCGCTGAGCT CCCCCCCCGCCTCACTCGCTGAGCACCCCCCCGCCCCGCCTCACTCGCTG AGCCCCCCGCCCCGCCTCACTCGCTGAGCTCCCCCCCCCGCCTCACTCGC TGAGCTCCCCCCCCGCCTCACTCGCTGAGCCCCCCCGCCCCGCCTCACTC GCTGAGCCCCCCCCCG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	67	0.0149	565	c.278 others(582): Show c.278-3421_278-3420insCGGGGGGGGGCTCAGCGAGTGAGGCGGG GCGGGGGGGCTCAGCGAGTGAGGCGGGGGGGGAGCTCAGCGAGTGAGGCG GGGGGGGGAGCTCAGCGAGTGAGGCGGGGCGGGGGGCTCAGCGAGTGAGG CGGGGCGGGGGGGTGCTCAGCGAGTGAGGCGGGGGGGGAGCTCAGCGAGT GAGGCGGGGGGGGGAGCTCAGCGAGTGAGGCGGGGCGGGGGGGGGGCTCA GCGAGTGAGGCGGGGCGGGGGGCTCAGCGAGTGAGGCGGCGGGGGGGTGC TCAGCGAGTGAGGCGGGGGGGGAGCTCAGCGAGTGAGGCGGGGGGGGAGC TCAGCGAGTGAGGCGGGGGGGAGCTCAGCGAGTGAGGCGGGGCGGGGGGG GGGGCTCAGCGAGTGAGGCGGGGGGGGAGCTCAGCGAGTGAGGCGGGGCG GGGGGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGCTCAGCGAGTGAGG CGGGGCGGGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGCTCAGCGAGT GAGGCGGGGCGGGGGGGCTCAGCGAGTGAGGCGGGTG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RERE_chr1_8347404_8822640	8502129	T T	TGCCCGGC others(558): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGATCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCAC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCGCA CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCT GGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCC TACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCGCCCCGTCCGGGAG GGAGGCGCGGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGGTCAGCCCCCC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00609.hp2 others(20): Show HG00140.hp2 HG00280.hp1 HG00609.hp2 HG01167.hp2 HG01169.hp2 HG01433.hp1 HG02004.hp2 HG02027.hp1 HG02074.hp2 HG02080.hp1 HG02129.hp2 HG02155.hp1 HG02165.hp2 HG02258.hp1 HG02523.hp1 HG02698.hp2 HG03688.hp1 NA18964.hp2 NA18967.hp1 NA19002.hp1 NA19005.hp1 NA19070.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0007 others(1): Show a0001c0001 a0001c0004 a0001c0007 a0001c0018	a0001c0001t0001 a0001c0001t0006 a0001c0004t0001 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0004t0001 a0001c0004t0003 a0001c0007t0004 a0001c0018t0001	a0001c0001t0001g0015 a0001c0001t0001g0038 a0001c0001t0001g0039 others(20): Show a0001c0001t0001g0015 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0075 a0001c0001t0006g0170 a0001c0004t0001g0049 a0001c0004t0003g0092 a0001c0007t0004g0044 a0001c0007t0004g0047 a0001c0018t0001g0005	23	204	0.1128	565	c.880 others(582): Show c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGACCCCCCCCCCGCGCCTCCCTCCCGGACGGG GCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCT GATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTG ACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGATC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
RFC1_chr4_39282456_39371362	39348424	A A	AAAAAGAA others(558): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0001 a0005c0013t0001	a0005c0013t0001g0005 a0005c0013t0001g0005	1	276	0.0036	565	c.132 others(582): Show c.132+2923_132+2924insCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
RGPD4_chr2_107821892_107897544	107829102	G G	GGCGGCGG others(558): Show GGCGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTC CCTGGCGCGCTCTGTTGAGGCGGCGGCCTGGACCTGGCCGGGCGGCGGCG GCCTCGACCTGGCCCGGTGGCGACCTCGATGGCTCAGGCGTCATGGCTCC CGACGGCCGCTGCTCCCTGACGCGCTCTGTTGAGGCGGCGGCCTCGACCC GGCCCGGCGGCGGCCGCGATGGCTCAGGCGTCATGGCTCCCGACGGGCGC TGCTCCCTGGCGCGCTCTGTTGAGACGGCGGCCTCGACCTGGCCCGGCGG CTGCCTCGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCTGG CGCGCTCTGTTGAGGCGGCGGCCTCGACCTGGCCCGGCGGCGGCCTCGAT GACTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCTGGAACGCTCTGT TGAGGCAGCGGCCTCGACCTGGCCGGGCGGCAGCCTCGATGGCTCAGGCG TCATGCCTCCCGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCGGCG GCCTCTACCCGGCCCC	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03704.hp1 HG03491.hp1 HG03704.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0003 a0003c0002t0017 a0003c0002t0003 a0003c0002t0017	a0003c0002t0003g0180 a0003c0002t0017g0181 a0003c0002t0003g0180 a0003c0002t0017g0181	2	374	0.0054	565	c.72+ others(580): Show c.72+2095_72+2096insGGACCTGGCCGGGCGGCGGCGGCCTCGACC TGGCCCGGTGGCGACCTCGATGGCTCAGGCGTCATGGCTCCCGACGGCCG CTGCTCCCTGACGCGCTCTGTTGAGGCGGCGGCCTCGACCCGGCCCGGCG GCGGCCGCGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCTG GCGCGCTCTGTTGAGACGGCGGCCTCGACCTGGCCCGGCGGCTGCCTCGA TGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGCTCTG TTGAGGCGGCGGCCTCGACCTGGCCCGGCGGCGGCCTCGATGACTCAGGC GTCATGGCTCCCGACGGGCGCTGCTCCCTGGAACGCTCTGTTGAGGCAGC GGCCTCGACCTGGCCGGGCGGCAGCCTCGATGGCTCAGGCGTCATGCCTC CCGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGCCTCTACC CGGCCCCGCGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACGGGCG CTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGCCT	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RNF213_chr17_80255852_80403794	80274587	T T	TGGGGGGT others(558): Show TGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGG TGAGTGGGGTGAGTGTGGGGAGTGAGTGGGGTGAGTGTGGGGTGAGTGGG GTGAGTGTGGGGGGTGAGTGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTG TGGGGGGGTGAGTGGGGTGAGTGGGGTGAATGTGGGGTGAGTGGGGTGAG TGTGGGGGGTGAGTGGGGTGATGGGGGTGAGTGGGGTGAGTGTGGGGGGT GAGCGGGGTGAGTGTGGGGGTGAGTGGGGTGAGTGGGGAGTGAGTGGGGG TGAGTGTGGGGTGATGGGGTGAGTGTGGGGGTGAGGGGGGTGAGTGGGGT GTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGT GGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGTCTGGGGGTGAGTGG GGTGAGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTG TGTGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGG GTGAGTGGGGTGAGTG	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0087 a0002c0002t0003g0087	1	292	0.0034	565	c.261 others(582): Show c.261+1222_261+1223insAGTGTGGGGGTGAGTGGGGTGAGTGTGG GGAGTGAGTGGGGTGAGTGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGAG TGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGGTGAGTGGGGT GAGTGGGGTGAATGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGG TGATGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGCGGGGTGAGTGTGGG GGTGAGTGGGGTGAGTGGGGAGTGAGTGGGGGTGAGTGTGGGGTGATGGG GTGAGTGTGGGGGTGAGGGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGTG GGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGTGAGTGGGGTGAGT GGGGGGTGAGTGGGGTGTCTGGGGGTGAGTGGGGTGAGTGGGGGGTGAGT GGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGTGGGGTGAGTGGGGTG TCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGGG GGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPS6KA2_chr6_166404364_166632251	166416131	C C	CCCACCAT others(558): Show CCCACCATCACCCTCACCATCATCTTCACCACCACCTCCACCATCACCCT CGCCATCCTTTCTCCATCACCTCCACCATCACCCTCACCATCATCTTCAC CACCACCTCCACCATCACCCTCGCCATCCTTTCTCCATCACCTCCACCAT CACCCTCGCCATCATCTTCACCACCACCTCCACCATCATCCTCACCATCT CCACCATCACCCTCGCCATCCTTTCTCCATCACCTCCACCATCACCCTCG CCATCATCTTCACCACCACCTCCACCATCATCCTCACCATCTCCACCATC ACCCTCACCATCCTTCCTCCATCACCTCCACCATCCACCCTCACCATCCT TCATCACCCCCACCATCACCCTCACCATCATCTTCACCACCACCATCACC CTCGCCATCCTTTCTCCATCACCTCCACCATCACCCTCGCCATCATCTTC ACCACCACCTCCACCATCACCCTCGCCATCCTTTCTCCATCACCTCCACC ATCACCCTCGCCATCATCTTCACCACCACCTCCACCATCACCCTCGCCAT CCTTTCTCCATCACTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	244	0.0041	565	c.193 others(584): Show c.1938+2093_1938+2094insAAGTGATGGAGAAAGGATGGCGAGGG TGATGGTGGAGGTGGTGGTGAAGATGATGGCGAGGGTGATGGTGGAGGTG ATGGAGAAAGGATGGCGAGGGTGATGGTGGAGGTGGTGGTGAAGATGATG GCGAGGGTGATGGTGGAGGTGATGGAGAAAGGATGGCGAGGGTGATGGTG GTGGTGAAGATGATGGTGAGGGTGATGGTGGGGGTGATGAAGGATGGTGA GGGTGGATGGTGGAGGTGATGGAGGAAGGATGGTGAGGGTGATGGTGGAG ATGGTGAGGATGATGGTGGAGGTGGTGGTGAAGATGATGGCGAGGGTGAT GGTGGAGGTGATGGAGAAAGGATGGCGAGGGTGATGGTGGAGATGGTGAG GATGATGGTGGAGGTGGTGGTGAAGATGATGGCGAGGGTGATGGTGGAGG TGATGGAGAAAGGATGGCGAGGGTGATGGTGGAGGTGGTGGTGAAGATGA TGGTGAGGGTGATGGTGGAGGTGATGGAGAAAGGATGGCGAGGGTGATGG TGGAGGTGGTGGTGAAGATGATGGTGAGGGTGATGGTGG	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	19/20			chr6	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGGGGTT others(558): Show GGGGGGTTGGGTGGGGGGTTGGGGGGGTTGGGTGAGGGGTTGGGGGGGTT GGGTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGGTGGGGGGGT TTGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGG GGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGGGGGGT TGGGTGAGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGG GGGTGGGGTCGGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGGGG GGTTGGGTGAGGGGGTTGGGTGAGGGGGGTGGGGGGTTGGGTGAGGGGGG TGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGTTGGGGGGGTTGAGTGA GGGGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGG GGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGG TTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGG TGGGGGGGTTGAGTGA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03579.hp2 HG02257.hp1 HG03579.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0001 a0004c0008t0001 a0001c0001t0001 a0004c0008t0001	a0001c0001t0001g0244 a0004c0008t0001g0262 a0001c0001t0001g0244 a0004c0008t0001g0262	2	290	0.0069	565	c.464 others(578): Show c.464+91_464+92insTGGGGGGTTGGGGGGGTTGGGTGAGGGGTTGG GGGGGTTGGGTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGGTG GGGGGGTTTGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGG TGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGT GGGGGGTTGGGTGAGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGG GTGAGGGGGGTGGGGTCGGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTG GGTGGGGGGTTGGGTGAGGGGGTTGGGTGAGGGGGGTGGGGGGTTGGGTG AGGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGTTGGGGGGGT TGAGTGAGGGGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTG GGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGG TGAGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGG GGTGGGGTGGGGGGGTTGAGTGAGGGGGTTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCUBE1_chr22_43192280_43348372	43339755	C C	CCCCCACT others(558): Show CCCCCACTCTCCTCATTCTATCCCCCCACAAGCATCACTCCAGCCCTCCC CCACTCTCCTCACTCTATGCCCCCACAAGCATTGCTCCAACCCTCCCCCA CTCTCCTCATTCTACCCCCCACAAGCATAGCTCCAACCCTCCCCCCACTC TCCTCATTCTATCCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTCC TCATTCTACCCCCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCA TTCTATCCCCCCACAAGCATTGCTTCAACCCTCCCCCACGCTCCTCATTC TATCCCCCCACAAGCATCGCTCCAACCCTCCCCTACTCTCCTCACTCTAT CCCCCCACAAGCATCACTCCAGCCCTCCCCTACTCTCCTCACTATCCCCC CACAAGCATCACTCCAACCCTCCCCTACTCTCCTCATTCTACCCCCCCCA AGCATAGCTCCAACCCTCCCCCAACTCTCCTCATTCTACCCCCCCCACAA GCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTACCCCCCCCCACAA GCACTGCTCCAACCCT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01256.hp2 others(1): Show HG01069.hp2 HG01071.hp1 HG01256.hp2 HG01258.hp2	a0001 a0004 a0001 a0004	a0001c0006 a0001c0019 a0004c0011 a0001c0006 a0001c0019 a0004c0011	a0001c0006t0019 a0001c0019t0008 a0004c0011t0006 a0001c0006t0019 a0001c0019t0008 a0004c0011t0006	a0001c0006t0019g0067 a0001c0019t0008g0051 a0001c0019t0008g0052 others(1): Show a0001c0006t0019g0067 a0001c0019t0008g0051 a0001c0019t0008g0052 a0004c0011t0006g0068	4	280	0.0143	565	c.89- others(578): Show c.89-521_89-520insAGGGTTGGAGCAGTGCTTGTGGGGGGGGGTAG AATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGGGTAGA ATGAGGAGAGTTGGGGGAGGGTTGGAGCTATGCTTGGGGGGGGTAGAATG AGGAGAGTAGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGTGAGGAG AGTAGGGGAGGGCTGGAGTGATGCTTGTGGGGGGATAGAGTGAGGAGAGT AGGGGAGGGTTGGAGCGATGCTTGTGGGGGGATAGAATGAGGAGCGTGGG GGAGGGTTGAAGCAATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGG AGGGTTGGAGCTATGCTTGTGGGGGGTAGAATGAGGAGAGTGGGGGAGGG TTGGAGCAATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGGAGGGTT GGAGCTATGCTTGTGGGGGGTAGAATGAGGAGAGTGGGGGAGGGTTGGAG CAATGCTTGTGGGGGCATAGAGTGAGGAGAGTGGGGGAGGGCTGGAGTGA TGCTTGTGGGGGGATAGAATGAGGAGAGTGGGG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SDK2_chr17_73329384_73649445	73389374	A A	AGGTTTCA others(558): Show AGGTTTCACCACGTTGGCCAGGACGGCCTTGAACTCCCGACCTCAGGTGA TCCACCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACC ATGCCCGGCCTATAGCTAATATTTCTATGTTCTGTAGAGATGGTGTCTCA CTATGTGGCCCAGGTTGAGAGTAGTTTCTAATATATCCCTATCAGGCCAG TCGGGGTCCCAGGCTTGCTTTTGGGGAGTCCAAGATCAGGCAAGGTGCCA GCTCAGGGCAGCAGTGCAGTGGCAGCCGGGGCTCCAGGCTGCAGCCCTGA TCCTGCGCCCATCTGTGTTGACAAGGCCAGGGCTGCGAGTGGGGAGGGGA GAGGGAAGATGGTCACTAACCCTCCCTTAATTAATTAATTAATTTAGACA GAGTCTTGTTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTC ACTGCAACCTCCGTCTCCCAGGTTCAAGTGATTCTCGTGTCTCAGCTTCC TGAGTAGCTGGGATTACAGGTGTGTGCCACCACGCTGGCTAATTTTTGTA TTTTTAGTAGAGACGG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02486.hp2 HG02647.hp1 others(11): Show HG02109.hp2 HG02486.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02886.hp1 HG02965.hp2 HG03098.hp1 HG03453.hp2 HG03486.hp2 HG03516.hp1 NA19030.hp1 NA19240.hp2 NA21309.hp2	a0001 a0005 a0007 others(2): Show a0001 a0005 a0007 a0024 a0026	a0001c0008 a0001c0018 a0001c0026 others(5): Show a0001c0008 a0001c0018 a0001c0026 a0005c0012 a0005c0037 a0007c0050 a0024c0087 a0026c0114	a0001c0008t0004 a0001c0008t0059 a0001c0018t0008 others(10): Show a0001c0008t0004 a0001c0008t0059 a0001c0018t0008 a0001c0026t0022 a0001c0026t0035 a0005c0012t0039 a0005c0012t0058 a0005c0012t0074 a0005c0012t0081 a0005c0037t0057 a0007c0050t0027 a0024c0087t0014 a0026c0114t0094	a0001c0008t0004g0051 a0001c0008t0059g0029 a0001c0018t0008g0016 others(11): Show a0001c0008t0004g0051 a0001c0008t0059g0029 a0001c0018t0008g0016 a0001c0018t0008g0156 a0001c0026t0022g0115 a0001c0026t0035g0070 a0005c0012t0039g0153 a0005c0012t0058g0040 a0005c0012t0074g0185 a0005c0012t0081g0178 a0005c0037t0057g0147 a0007c0050t0027g0172 a0024c0087t0014g0064 a0026c0114t0094g0179	14	204	0.0686	565	c.419 others(582): Show c.4192+912_4192+913insCCGTCTCTACTAAAAATACAAAAATTAG CCAGCGTGGTGGCACACACCTGTAATCCCAGCTACTCAGGAAGCTGAGAC ACGAGAATCACTTGAACCTGGGAGACGGAGGTTGCAGTGAGCCAAGATCG CACCACTGCACTCCAGCCTGGGTGACAGAACAAGACTCTGTCTAAATTAA TTAATTAATTAAGGGAGGGTTAGTGACCATCTTCCCTCTCCCCTCCCCAC TCGCAGCCCTGGCCTTGTCAACACAGATGGGCGCAGGATCAGGGCTGCAG CCTGGAGCCCCGGCTGCCACTGCACTGCTGCCCTGAGCTGGCACCTTGCC TGATCTTGGACTCCCCAAAAGCAAGCCTGGGACCCCGACTGGCCTGATAG GGATATATTAGAAACTACTCTCAACCTGGGCCACATAGTGAGACACCATC TCTACAGAACATAGAAATATTAGCTATAGGCCGGGCATGGTGGCTCACAC CTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTC GGGAGTTCAAGGCCGTCCTGGCCAACGTGGTGAAACC	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	29/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73389374	A A	AGGTTTCA others(558): Show AGGTTTCACCACGTTGGCCAGGACGGCCTTGAACTCCCGACCTCAGGTGA TCCACCTGCCTTGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACC ATGCCCGGCCTATAGCTAATATTTCTATGTTCTGTAGAGATGGTGTCTCA CTATGTGGCCCAGGTTGAGAGTAGTTTCTAATATATCCCTATCAGGCCAG TCGGGGTCCCAGGCTTGCTTTTGGGGAGTCCAAGATCAGGCAAGGTGCCA GCTCAGGGCAGCAGTGCAGTGGCAGCCGGGGCTCCAGGCTGCAGCCCTGA TCCTGAGCCCATCTGTGTTGACAAGGCCAGGGCTGCGAGTGGGGAGGGGA GAGGGAAGATGGTCACTAACCCTCCCTTAATTAATTAATTAATTTAGACA GAGTCTTGTTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTC ACTGCAACCTCCGTCTCCCAGGTTCAAGTGATTCTCGTGTCTCAGCTTCC TGAGTAGCTGGGATTACAGGTGTGTGCCACCACGCTGGCTAATTTTTGTA TTTTTAGTAGAGACGG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03098.hp2 HG02818.hp2 HG03098.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0016 a0001c0025t0016	a0001c0025t0016g0055 a0001c0025t0016g0180 a0001c0025t0016g0055 a0001c0025t0016g0180	2	204	0.0098	565	c.419 others(582): Show c.4192+912_4192+913insCCGTCTCTACTAAAAATACAAAAATTAG CCAGCGTGGTGGCACACACCTGTAATCCCAGCTACTCAGGAAGCTGAGAC ACGAGAATCACTTGAACCTGGGAGACGGAGGTTGCAGTGAGCCAAGATCG CACCACTGCACTCCAGCCTGGGTGACAGAACAAGACTCTGTCTAAATTAA TTAATTAATTAAGGGAGGGTTAGTGACCATCTTCCCTCTCCCCTCCCCAC TCGCAGCCCTGGCCTTGTCAACACAGATGGGCTCAGGATCAGGGCTGCAG CCTGGAGCCCCGGCTGCCACTGCACTGCTGCCCTGAGCTGGCACCTTGCC TGATCTTGGACTCCCCAAAAGCAAGCCTGGGACCCCGACTGGCCTGATAG GGATATATTAGAAACTACTCTCAACCTGGGCCACATAGTGAGACACCATC TCTACAGAACATAGAAATATTAGCTATAGGCCGGGCATGGTGGCTCACAC CTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGGTC GGGAGTTCAAGGCCGTCCTGGCCAACGTGGTGAAACC	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	29/44			chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77356680	T T	TCCCCCTC others(558): Show TCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTACCCTCCTCCCCTCCCC CCTCCCCTCCCCTCCCCCCCTCCCCACCCCTTCCCCCTCCCCCTTCCCTC CCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCC CCTCCCCACCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCACCCCTTC CCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCC CTCCCCCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCC CTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCCATCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCC CCACCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTTT CCCTTCCCCTCCCCTC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0043 a0002c0002t0043	a0002c0002t0043g0002 a0002c0002t0043g0002	1	150	0.0067	565	c.77- others(582): Show c.77-45374_77-45373insTCCCCTCCCCCTCCCCTCCCCTCCCCTA CCCTCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCCTCCCCACCCCTTCC CCCTCCCCCTTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCCCA CCCCTTCCCCCTCCCCCCTCCCCACCCCTCCCCCCTCCCCCTCCCCTCCC CTCCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCC CCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCCCCCCTCCCCCTCCCCTCCCCCCTCCC CTCCCCATCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCATCCC CTCCCCTCCCCCCTCCCCACCCCCTCCCCCTCCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356680	T T	TCCCCCTC others(558): Show TCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTACCCTCCTCCCCTCCCC CCTCCCCTCCCCTCCCCCCCTCCCCACCCCTTCCCCCTCCCCCTTCCCTC CCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCC CCTCCCCACCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCACCCCTTC CCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCC CTCCCCCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCC CTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCCATCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCC CCACCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTTT CCCTTCCCCTCCCCTC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0028 a0002c0002t0028	a0002c0002t0028g0124 a0002c0002t0028g0124	1	158	0.0063	565	c.22+ others(582): Show c.22+36337_22+36338insTCCCCTCCCCCTCCCCTCCCCTCCCCTA CCCTCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCCTCCCCACCCCTTCC CCCTCCCCCTTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCCCA CCCCTTCCCCCTCCCCCCTCCCCACCCCTCCCCCCTCCCCCTCCCCTCCC CTCCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCC CCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCCCCCCTCCCCCTCCCCTCCCCCCTCCC CTCCCCATCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCATCCC CTCCCCTCCCCCCTCCCCACCCCCTCCCCCTCCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SNTG2_chr2_945849_1372613	1345669	A A	ACGCCTGG others(558): Show ACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACT TTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTGGCACTTTTC CCCTGTTCTGGGCGCGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCC TCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGC ACTGGCACTTTTCCCCTGTTCTGGGCGCGCCTGGCCCAGCTCTGTAGGAC AGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGC ATAGGAAGAGTGGACTGGCACTTTCCCCCTGTTCTGGGCACGCCTGGCCC AGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGG AAGCAGGACATGCATAGGAAGAGTGGACTGGCACTTTTCCCCTGTTCTGG GCGCGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGA CTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGCACTGGCACTTT TCCCCTGTTCTGGGCG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0018 a0018	a0018c0023 a0018c0023	a0018c0023t0001 a0018c0023t0001	a0018c0023t0001g0048 a0018c0023t0001g0048	1	190	0.0053	565	c.148 others(586): Show c.1489-21577_1489-21576insTCCCCTGTTCTGGGCGCGCCTGGC CCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTG GGAAGCAGGACATGCATAGGAAGAGTGCACTGGCACTTTTCCCCTGTTCT GGGCGCGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGG GACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTGGCACT TTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGC TTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGA GTGGACTGGCACTTTTCCCCTGTTCTGGGCGCGCCTGGCCCAGCTCTGTA GGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGAC ATGCATAGGAAGAGTGCACTGGCACTTTTCCCCTGTTCTGGGCGCGCCTG GCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATT TGGGAAGCAGGACATGCATAGGAAGAGTGGACTGGCACTTT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1345872	G G	GGCACTTT others(558): Show GGCACTTTTCCCCTGTTCTGGGCGCGCCTGGCCCAGCTCTGTAGGACAGC GGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATA GGAAGAGTGGACTCGCACTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGC TCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAG CAGGACATGCATAGGAAGAGTGGACTGGCACTTTTCCCCTGTTCTGGGCG CGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTT TTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTCCC CCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCT CTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGA CTCGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACA GCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCA TAGGAAGAGTGGACTC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0084 a0001c0002t0001g0084	1	190	0.0053	565	c.148 others(586): Show c.1489-21464_1489-21463insTCCCCTGTTCTGGGCGCGCCTGGC CCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTG GGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTCCCCCTGTTCT GGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGG GACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTGGCACT TTTCCCCTGTTCTGGGCGCGCCTGGCCCAGCTCTGTAGGACAGCGGCAGC TTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGA GTGGACTCGCACTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTA GGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGAC ATGCATAGGAAGAGTGGACTCGCACTTTTCCCCTGTTCTGGGCACGCCTG GCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATT TGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX9_chr6_157818246_157950077	157827031	T T	TATATATT others(558): Show TATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGT TTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATAT ATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATAT AAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATA TAATATATAAACATATATTATAGTTTATATAATATATAAACATATAGTTT ATATAATATATAAACATATAGTTTATATAATATATAAACATATAGTTTAT ATAATATATAAACATATATTATAGTTTATATAATATATAAACATATATTA TAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACAC ATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAAT ATATACACATATATTATAGTTTATATAATATATACACATATATTATAGTT TATATAATATATACAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	302	0.0033	565	c.12+ others(580): Show c.12+3669_12+3670insAACATATATTATAGTTTATATAATATATAA ACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATA ATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAG TTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATA TATTATAGTTTATATAATATATAAACATATAGTTTATATAATATATAAAC ATATAGTTTATATAATATATAAACATATAGTTTATATAATATATAAACAT ATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATAT ATACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTA TATAATATATACACATATATTATAGTTTATATAATATATACACATATATT ATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACA CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
ST3GAL3_chr1_43702536_43936159	43905809	T T	TTCCTGTT others(558): Show TTCCTGTTTCTCTTCCTACCACTCTTCTTTCTCCTCCTCCTGTTCCTCTT CCTCCCCATCCTCCTGTTTCCTTTCCCGCCACTTTTCTTCACCTCCTCCT GTTCCTCTTCCCACCACTCTTCCCCCTCCTCCTCCTGCTCCTCTCCCACC ACTCTCCCCTCTCCTCCTCCTGCTCCCCTTCCCGCCACTCTTCCCCCTCC TCCTTCTGTTCCTCTTCCCGCCACTCTTCCTCCCCCTCCCCCTCCTGCTC CTCTTCCTGCCACTTTTCCTCCCCCTCCTCCTGCTCCTCTTCCTGCCACT TTTCCTCCCCCTCTTCCTGCTCCTCTTCCCACCACTGTTCCTCCCCCTCC TCCTGTTCCCCTTCCTGCCACTCTTCCTCCCCCTCCTCCTGTTCCCCTTC CTGCCACTCTTCCTCCCCCTCCTCCTGCTCCTCTTCCTGCCACTCTTCCC CTGACTCCTCCTCCTCCTCTTCCTGCCACTTTTCCTCCCCCTCCTCCTGT TTCTCTTCCTACCACTCTTCTTTCTCCTCCTCCTGTTCCTCTTCCCGCCA CTCTTCCTCCCCCTCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0132 a0001c0001t0002g0132	1	274	0.0037	565	c.744 others(582): Show c.744+6643_744+6644insCTCCTCCTGTTTCTCTTCCTACCACTCT TCTTTCTCCTCCTCCTGTTCCTCTTCCTCCCCATCCTCCTGTTTCCTTTC CCGCCACTTTTCTTCACCTCCTCCTGTTCCTCTTCCCACCACTCTTCCCC CTCCTCCTCCTGCTCCTCTCCCACCACTCTCCCCTCTCCTCCTCCTGCTC CCCTTCCCGCCACTCTTCCCCCTCCTCCTTCTGTTCCTCTTCCCGCCACT CTTCCTCCCCCTCCCCCTCCTGCTCCTCTTCCTGCCACTTTTCCTCCCCC TCCTCCTGCTCCTCTTCCTGCCACTTTTCCTCCCCCTCTTCCTGCTCCTC TTCCCACCACTGTTCCTCCCCCTCCTCCTGTTCCCCTTCCTGCCACTCTT CCTCCCCCTCCTCCTGTTCCCCTTCCTGCCACTCTTCCTCCCCCTCCTCC TGCTCCTCTTCCTGCCACTCTTCCCCTGACTCCTCCTCCTCCTCTTCCTG CCACTTTTCCTCCCCCTCCTCCTGTTTCTCTTCCTACCACTCTTCTTTCT CCTCCTCCTGTTCCTCTTCCCGCCACTCTTCCTCCCC	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(558): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGGAGGAAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGG GAGGAAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGA AGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGG GAGGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGA GGAAAGGAAGGAGGGGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGA AAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAA GGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGG AGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAGGGAG GGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGG AAGGAGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	322	0.0031	565	c.597 others(582): Show c.597+1546_597+1547insTCCCCCCTCCCTCCTTCCTTTCCTCCCC CCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTTC CTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCT CCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCC CTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCT CCCTCCTTCCTTTCCTCCCCCCCCCCTCCTTCCTTTCCTCCCTCCTTCCT TTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTT CCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCC TCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTC CTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTTCCTCCCTCCCTCCCTCCT TCCTTTCCTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTC CTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(558): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTGGGAGCGG GGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGGAGAACGG GGTGGGAGAGCAGGGTGGGAGGGGTGGGAGAACGGGGTGGGGGTGGGAGG GGGTGGGAGAACGGGGTGGGAGCGAGGTGGGAGAACGGGGTGAGAGCGGG GTGGGAGAGCGGGGTGGGGGTGAGAGCGGGGTGGGGGAACGGGGAGAGAG CGGGGTGGGGGAACGGGGAGGGAGCGGGGTGGGGGAACGGGGGTGGGAGC GGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAACGGGGTGGGAGCGG GGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGG TGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTG GGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGG AGCGGGGTGGGAGAAC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0149 a0002c0003t0001g0149	1	364	0.0028	565	c.157 others(584): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGC TCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTC CCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCC ACCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCCAC CCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCCACCC CCGTTCCCCCACCCCGCTCCCTCCCCGTTCCCCCACCCCGCTCTCTCCCC GTTCCCCCACCCCGCTCTCACCCCCACCCCGCTCTCCCACCCCGCTCTCA CCCCGTTCTCCCACCTCGCTCCCACCCCGTTCTCCCACCCCCTCCCACCC CCACCCCGTTCTCCCACCCCTCCCACCCTGCTCTCCCACCCCGTTCTCCC ACCCCGCTGTCCCACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCCCAC CCCCACCCCGTTCTCCCACCCCGTTCTCCCACCCCGCTCCCACCCCCACC CCGTTCTCCCACCCCGTTCTCCCACCCCGCTCCCACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
SYTL3_chr6_158645054_158769871	158701221	A A	AAGGGCTG others(558): Show AAGGGCTGTCTAGGGGAGGAGCCGTGGGAAGAGGGTCATGGAGGAGTGTG AGCTGGGGTGTACATGAAGGACTGTCTGGGGGGAGGAGCCGTGGGAAGAG GGTCATGGAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGG GTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTG GGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGGCTGTCTAG GGGAGGAGCCGTGGGAAGAGGGTCATGGAGGAGTGTGAGCTGGGGTGTAG ATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGT AGATGAAGGGCTGTCTAGGGGAGGAGCCGTGGGAAGAGGGTCATGGAGGA GTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAG GAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGA AGGAGTGTGAGCTGGGGTGTAGATGAAGGGCTGTCTAGGGGAGGAGCCGT GGGAAGAGGGTCATGG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0226 a0002c0005t0001g0226	1	292	0.0034	565	c.395 others(582): Show c.395-6006_395-6005insGCTGTCTAGGGGAGGAGCCGTGGGAAGA GGGTCATGGAGGAGTGTGAGCTGGGGTGTACATGAAGGACTGTCTGGGGG GAGGAGCCGTGGGAAGAGGGTCATGGAGGAGTGTGAGCTGGGGTGTAGAT GAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAG ATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGT AGATGAAGGGCTGTCTAGGGGAGGAGCCGTGGGAAGAGGGTCATGGAGGA GTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAG GAGTGTGAGCTGGGGTGTAGATGAAGGGCTGTCTAGGGGAGGAGCCGTGG GAAGAGGGTCATGGAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGA GCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGT GAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGGCT GTCTAGGGGAGGAGCCGTGGGAAGAGGGTCATGGAGG	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
TAFA5_chr22_48484553_48756932	48620724	A A	ACCATCCC others(558): Show ACCATCCCCCATCGTATCCACCCACCCACCATCCCCCATCCTATCTACCC CCCCACCATCCCCCATCCTATCCACCCCCCCACCATCTCCCATCCTATCC ACCCCCCCCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCC ATCCTATCCACCCCCCCACCATCTCCCATCCTATCCACCCCCCCCACATC CATCCTATCCACCCACCCACCCACCATCCACCATCCTATCCACCCACCCA TCATCCACTATCCATCCACCACCCCCACACCCATCCTATCCACCCACCCA TCATCCACCATCCACTCACCCTCCATCCACTATCCATCCACCCACCCGCC ATCCACCCACCATCCCCCATCCACCTACTCACCCACCCGTTCTATACATC TACCTACCCATTCTGTCTGTCCACCCACCCATCATATCCATCCACCCACC TACCCATCCATCCTATCCATCCACCCATCCACCCACCGTATCTATCCACC CACCCACACTGTCCATCCACCCACCCACCCATCCACCCACCCACCTATCC TATTCATCCATCCACC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01106.hp1 HG01167.hp2 others(3): Show HG00639.hp2 HG01106.hp1 HG01167.hp2 NA19060.hp1 NA19065.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0010	a0001c0001t0001g0097 a0001c0001t0002g0105 a0001c0001t0002g0117 others(3): Show a0001c0001t0001g0097 a0001c0001t0002g0105 a0001c0001t0002g0117 a0001c0001t0005g0104 a0001c0001t0005g0246 a0001c0001t0010g0176	6	258	0.0233	565	c.113 others(584): Show c.113-25872_113-25871insCATCCCCCATCGTATCCACCCACCCA CCATCCCCCATCCTATCTACCCCCCCACCATCCCCCATCCTATCCACCCC CCCACCATCTCCCATCCTATCCACCCCCCCCACCCACCATCCCCCATCCT ATCCACCCACCCACCATCCCCCATCCTATCCACCCCCCCACCATCTCCCA TCCTATCCACCCCCCCCACATCCATCCTATCCACCCACCCACCCACCATC CACCATCCTATCCACCCACCCATCATCCACTATCCATCCACCACCCCCAC ACCCATCCTATCCACCCACCCATCATCCACCATCCACTCACCCTCCATCC ACTATCCATCCACCCACCCGCCATCCACCCACCATCCCCCATCCACCTAC TCACCCACCCGTTCTATACATCTACCTACCCATTCTGTCTGTCCACCCAC CCATCATATCCATCCACCCACCTACCCATCCATCCTATCCATCCACCCAT CCACCCACCGTATCTATCCACCCACCCACACTGTCCATCCACCCACCCAC CCATCCACCCACCCACCTATCCTATTCATCCATCCACCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar

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Search Results (Total: 10000 hits)