Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MLIP_chr6_54106443_54271280	54252319	ATATATTA others(58): Show ATATATTATACCATATAATATATAATATAACTATAATATACCATATACTA TATAACTATAATATAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA18906.hp1 HG02258.hp2 NA18906.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0102 a0003c0002t0001g0153 a0003c0002t0001g0102 a0003c0002t0001g0153	2	248	0.0081	-65	c.292 others(84): Show c.2923-4984_2923-4920delTTATACCATATAATATATAATATAAC TATAATATACCATATACTATATAACTATAATATATTATA	MLIP	ENSG00000146147.15	transcript	ENST00000502396.6	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
MLPH_chr2_237482251_237560322	237542822	GGGACAGT others(58): Show GGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGCGGACAGTGGTGAGTG GGGGACAGTGGTGAGT	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0028 a0028	a0028c0034 a0028c0034	a0028c0034t0017 a0028c0034t0017	a0028c0034t0017g0129 a0028c0034t0017g0129	1	286	0.0035	-65	c.153 others(82): Show c.1539+166_1539+230delACAGTGGTGAGTGGGGGACAGTGGTGAG TGGCGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237544551	ACTTTAGT others(58): Show ACTTTAGTGTTGGGGGGGACATTGTTTATTGGGGGCATAGTGGTGTGTGG TTGTCAGTGTGTGGTG	A A	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0065 a0002c0002t0003g0065	1	286	0.0035	-65	c.153 others(84): Show c.1539+1893_1539+1957delCTTTAGTGTTGGGGGGGACATTGTTT ATTGGGGGCATAGTGGTGTGTGGTTGTCAGTGTGTGGTG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15			chr2	TogoVar
MLPH_chr2_237482251_237560322	237544874	GGGGACAG others(58): Show GGGGACAGTGGTGAGTGGGGACAGTAATGAGTCGGGGGACAGTGGTGAGT GGGCACAGTAGTGAGT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02897.hp2 HG02055.hp1 HG02897.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0005 a0003c0003t0001 a0003c0003t0005	a0003c0003t0001g0264 a0003c0003t0005g0265 a0003c0003t0001g0264 a0003c0003t0005g0265	2	286	0.0070	-65	c.154 others(84): Show c.1540-1728_1540-1664delACAGTGGTGAGTGGGGACAGTAATGA GTCGGGGGACAGTGGTGAGTGGGCACAGTAGTGAGTGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLXIPL_chr7_73588202_73629522	73589117	TATATTAT others(58): Show TATATTATAAATATAAAATACATTTATATTATAAATATAAAATACATTTA TATTATAAATATAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	276	0.0036	-65	c.46 others(76): Show c.4683_*4747delTTTTATATTTATAATATAAATGTATTTTATATTT ATAATATAAATGTATTTTATATTTATAATAT	MLXIPL	ENSG00000009950.16	transcript	ENST00000313375.8	protein_coding		4084		chr7	TogoVar
MMACHC_chr1_45495300_45518382	45499365	AGATACAG others(58): Show AGATACAGCCACTGCTACAGAAGAAACAGATGCACAGGCCAATGAGCTCT GTGGAGACCCCAAGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp2 NA18969.hp1 NA18971.hp1 others(7): Show NA18944.hp2 NA18969.hp1 NA18971.hp1 NA18984.hp2 NA19000.hp1 NA19007.hp1 NA19067.hp1 NA19082.hp1 NA19083.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0025 a0001c0001t0031 others(2): Show a0001c0001t0024 a0001c0001t0025 a0001c0001t0031 a0001c0001t0039 a0001c0001t0040	a0001c0001t0024g0018 a0001c0001t0024g0074 a0001c0001t0024g0079 others(7): Show a0001c0001t0024g0018 a0001c0001t0024g0074 a0001c0001t0024g0079 a0001c0001t0025g0018 a0001c0001t0025g0077 a0001c0001t0025g0081 a0001c0001t0031g0018 a0001c0001t0031g0058 a0001c0001t0039g0018 a0001c0001t0040g0078	10	386	0.0259	-65	c.-96 others(74): Show c.-967_-903delGATACAGCCACTGCTACAGAAGAAACAGATGCACAG GCCAATGAGCTCTGTGGAGACCCCAAGAG	MMACHC	ENSG00000132763.15	transcript	ENST00000401061.9	protein_coding		934		chr1	TogoVar
MRPL45_chr17_38292168_38328211	38313312	ATATATAT others(58): Show ATATATATATATATATATATACATATATATATATACGTATATATATATAT ATATACGTATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(65): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01106.hp2 HG01123.hp1 HG01192.hp1 HG01433.hp2 HG01928.hp1 HG01952.hp2 HG01993.hp2 HG02004.hp2 HG02040.hp1 HG02055.hp2 HG02074.hp2 HG02135.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02630.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG03017.hp1 HG03139.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04204.hp1 HG04204.hp2 NA18906.hp2 NA18957.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18969.hp1 NA18975.hp1 NA18981.hp2 NA18992.hp1 NA18992.hp2 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp2 NA19055.hp2 NA19056.hp1 NA19062.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0008 a0001c0001 a0002c0002 a0005c0008	a0001c0001t0001 a0002c0002t0001 a0005c0008t0001 a0001c0001t0001 a0002c0002t0001 a0005c0008t0001	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 others(58): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0039 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0083 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0191 a0001c0001t0001g0200 a0001c0001t0001g0202 a0002c0002t0001g0234 a0002c0002t0001g0235 a0005c0008t0001g0060	68	287	0.2369	-65	c.462 others(82): Show c.462-5374_462-5310delTATATATATATATATATATACATATATA TATATACGTATATATATATATATATACGTATATATAT	MRPL45	ENSG00000278845.5	transcript	ENST00000613675.5	protein_coding	4/7			chr17	TogoVar
MSLN_chr16_755734_773862	767763	AGGGGCGC others(58): Show AGGGGCGCGTGGAGGGGGGAGCGTGGGGGGCGTGGAGGAGGGGCGCGTGG AGGGGGGCGCGTGGGG	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0001 a0012c0018t0001	a0012c0018t0001g0186 a0012c0018t0001g0186	1	388	0.0026	-65	c.159 others(82): Show c.1596+301_1596+365delGTGGAGGGGGGAGCGTGGGGGGCGTGGA GGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGGCGC	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MUSK_chr9_110663791_110811558	110701675	ATTTTTTT others(58): Show ATTTTTTTTACTTTACTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTAT	A A	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	326	0.0031	-65	c.628 others(82): Show c.628+4213_628+4277delTTTTTACTTTACTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MYO1A_chr12_57023517_57055129	57049242	AGGAGGAA others(58): Show AGGAGGAAACCTGGCCCTCCTCAGTCTTTCCTGTGAGACTGAGTAGGCAG AGTGGCCAGGCACAGG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0046 a0002c0002t0001g0046	1	348	0.0029	-65	c.-21 others(80): Show c.-21+580_-21+644delCCTGTGCCTGGCCACTCTGCCTACTCAGTC TCACAGGAAAGACTGAGGAGGGCCAGGTTTCCTCC	MYO1A	ENSG00000166866.13	transcript	ENST00000300119.8	protein_coding	1/27			chr12	TogoVar
MYT1L_chr2_1784113_2336275	1996619	TACAGAAC others(58): Show TACAGAACCGAGTGTAGACGGGCCGCCTTTACCTAGTGAGGGCCACCCTG CTTCAGTGTGGGCTGC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02818.hp2 NA20129.hp1 HG02257.hp1 HG02818.hp2 NA20129.hp1	a0001 a0001	a0001c0015 a0001c0016 a0001c0017 a0001c0015 a0001c0016 a0001c0017	a0001c0015t0001 a0001c0016t0002 a0001c0017t0005 a0001c0015t0001 a0001c0016t0002 a0001c0017t0005	a0001c0015t0001g0015 a0001c0016t0002g0016 a0001c0017t0005g0097 a0001c0015t0001g0015 a0001c0016t0002g0016 a0001c0017t0005g0097	3	104	0.0289	-65	c.-1+ others(78): Show c.-1+507_-1+571delGCAGCCCACACTGAAGCAGGGTGGCCCTCACT AGGTAAAGGCGGCCCGTCTACACTCGGTTCTGT	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	5/24			chr2	TogoVar
MYT1L_chr2_1784113_2336275	2031887	GAGGGCCT others(58): Show GAGGGCCTTATACACACACCCTCGCCAGTGCCTCTCATCCTGTGGCTCAG AGCAGATTCTAGAAGA	G G	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	104	0.0096	-65	c.-15 others(86): Show c.-158+22026_-158+22090delTCTTCTAGAATCTGCTCTGAGCCA CAGGATGAGAGGCACTGGCGAGGGTGTGTGTATAAGGCCCT	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	4/24			chr2	TogoVar
MYZAP_chr15_57586904_57690364	57688340	AATATGTG others(58): Show AATATGTGTGTACAATATACACATATATATAATATGTGTGTACAATATAC ACATATAATATAAAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG00558.hp2 others(54): Show HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01255.hp1 HG01257.hp2 HG01346.hp2 HG01928.hp1 HG01952.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02071.hp2 HG02080.hp2 HG02132.hp1 HG02135.hp1 HG02300.hp2 HG02523.hp1 HG02615.hp1 HG02683.hp1 HG02738.hp2 HG02970.hp1 HG03017.hp1 HG03098.hp1 NA18747.hp2 NA18939.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18946.hp1 NA18951.hp1 NA18952.hp2 NA18953.hp2 NA18957.hp1 NA18965.hp1 NA18984.hp1 NA18986.hp1 NA18993.hp1 NA18993.hp2 NA18995.hp2 NA19003.hp2 NA19005.hp2 NA19056.hp2 NA19063.hp2 NA19064.hp2 NA19070.hp1 NA19074.hp1 NA19083.hp1 NA19083.hp2 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0003t0002 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0003t0002 a0001c0003t0003 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0011	a0001c0001t0001g0008 a0001c0001t0001g0158 a0001c0001t0001g0163 others(52): Show a0001c0001t0001g0008 a0001c0001t0001g0158 a0001c0001t0001g0163 a0001c0001t0001g0184 a0001c0001t0001g0192 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0221 a0001c0001t0001g0227 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0270 a0001c0001t0001g0283 a0001c0001t0004g0276 a0001c0003t0002g0088 a0001c0003t0003g0138 a0002c0002t0002g0003 a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0012 a0002c0002t0002g0017 a0002c0002t0002g0039 a0002c0002t0002g0047 a0002c0002t0002g0052 a0002c0002t0002g0057 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0071 a0002c0002t0002g0075 a0002c0002t0002g0081 a0002c0002t0002g0092 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0103 a0002c0002t0002g0128 a0002c0002t0004g0220 a0002c0002t0005g0060 a0002c0002t0011g0073	57	352	0.1619	-65	c.38 others(76): Show c.3843_*3907delATATGTGTGTACAATATACACATATATATAATAT GTGTGTACAATATACACATATAATATAAAAT	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		2977		chr15	TogoVar
NAALADL2_chr3_174854334_175815548	175013063	ATATATAT others(58): Show ATATATATAAATATGTAATACATATTTATATATAAATATACATATTTATA TATAAATATACATATT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG03453.hp2 HG03579.hp2 others(1): Show HG01261.hp1 HG03453.hp2 HG03579.hp2 NA21309.hp2	a0003 a0004 a0005 others(1): Show a0003 a0004 a0005 a0007	a0003c0003 a0004c0008 a0005c0006 others(1): Show a0003c0003 a0004c0008 a0005c0006 a0007c0012	a0003c0003t0004 a0004c0008t0027 a0005c0006t0015 others(1): Show a0003c0003t0004 a0004c0008t0027 a0005c0006t0015 a0007c0012t0003	a0003c0003t0004g0020 a0004c0008t0027g0051 a0005c0006t0015g0008 others(1): Show a0003c0003t0004g0020 a0004c0008t0027g0051 a0005c0006t0015g0008 a0007c0012t0003g0033	4	64	0.0625	-65	c.44- others(82): Show c.44-83688_44-83624delACATATTTATATATAAATATACATATTT ATATATAAATATGTAATACATATTTATATATAAATAT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NCAPH2_chr22_50503224_50529780	50521319	CTGGGAGG others(58): Show CTGGGAGGGTGGCTGTGTACCCCCTACTCCTTTGGGAGGGTGGCTGTGAA CCCCCTACTCCTCCTT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01496.hp1 HG01884.hp1 others(18): Show HG01361.hp2 HG01496.hp1 HG01884.hp1 HG01891.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02451.hp1 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02886.hp1 HG02922.hp2 HG03130.hp1 HG03195.hp1 HG03225.hp1 HG03486.hp1 HG06807.hp1 NA19043.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0010 a0001c0002t0001 a0001c0001t0001 a0001c0001t0010 a0001c0002t0001	a0001c0001t0001g0052 a0001c0001t0010g0051 a0001c0002t0001g0006 others(9): Show a0001c0001t0001g0052 a0001c0001t0010g0051 a0001c0002t0001g0006 a0001c0002t0001g0026 a0001c0002t0001g0048 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0064 a0001c0002t0001g0068	21	384	0.0547	-65	c.934 others(80): Show c.934-207_934-143delTACCCCCTACTCCTTTGGGAGGGTGGCTGT GAACCCCCTACTCCTCCTTTGGGAGGGTGGCTGTG	NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr22	TogoVar
NEGR1_chr1_71390943_72287539	71898907	ATATTGCA others(58): Show ATATTGCAAATATATATTTGCAAATATATATAATATATTGCAAATATATA TATATAGCATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02559.hp1 HG03041.hp2 others(1): Show HG00597.hp2 HG02559.hp1 HG03041.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0022 a0001c0001t0001 a0001c0001t0006 a0001c0001t0022	a0001c0001t0001g0008 a0001c0001t0001g0036 a0001c0001t0006g0051 others(1): Show a0001c0001t0001g0008 a0001c0001t0001g0036 a0001c0001t0006g0051 a0001c0001t0022g0032	4	64	0.0625	-65	c.409 others(84): Show c.409+36107_409+36171delATATATATGCTATATATATATATTTG CAATATATTATATATATTTGCAAATATATATTTGCAATA	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	2/6			chr1	TogoVar
NEU4_chr2_241804193_241822413	241805942	TCCCCCCT others(58): Show TCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGACC TAGGCAGGCCACCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG01261.hp2 HG01934.hp1 HG00544.hp2 HG01261.hp2 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0001 a0001c0015t0001 a0001c0001t0001 a0001c0015t0001	a0001c0001t0001g0006 a0001c0001t0001g0169 a0001c0015t0001g0052 a0001c0001t0001g0006 a0001c0001t0001g0169 a0001c0015t0001g0052	3	319	0.0094	-65	c.-33 others(76): Show c.-3335_-3271delCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCC TCAGCCCAAGGGACCTAGGCAGGCCACCCTC	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3250		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806163	CCTCAGCC others(58): Show CCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	319	0.0031	-65	c.-31 others(76): Show c.-3114_-3050delCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCC CCTCAGCCCAGGAACCTCCGCAGGCCACCCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3029		chr2	TogoVar
NGB_chr14_77260483_77276206	77269668	TTCTCTCT others(58): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02809.hp2 HG04115.hp1 others(1): Show HG00408.hp2 HG02809.hp2 HG04115.hp1 HG04115.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0003c0006t0001 a0001c0001t0001 a0003c0006t0001	a0001c0001t0001g0018 a0003c0006t0001g0103 a0001c0001t0001g0018 a0003c0006t0001g0103	4	366	0.0109	-65	c.90- others(78): Show c.90-407_90-343delGAGAGAAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	NGB	ENSG00000165553.5	transcript	ENST00000298352.5	protein_coding	1/3			chr14	TogoVar
NGB_chr14_77260483_77276206	77269736	TCTCTCTC others(58): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCC TCTCCCTCTCCCCCCC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	366	0.0027	-65	c.90- others(78): Show c.90-475_90-411delGGGGGGGAGAGGGAGAGGGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	NGB	ENSG00000165553.5	transcript	ENST00000298352.5	protein_coding	1/3			chr14	TogoVar
NGLY1_chr3_25713944_25788443	25717741	CATATACC others(58): Show CATATACCTATGTAACAAACCTATACGTTCTGCACTTGTATCCCAGAACT TAAAGTAAAATGAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02145.hp2 HG02818.hp2 others(5): Show HG02055.hp1 HG02145.hp2 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG02965.hp2 NA18522.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0063 a0001c0001t0001g0064 others(5): Show a0001c0001t0001g0031 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0095 a0001c0001t0001g0098	8	264	0.0303	-65	c.16 others(76): Show c.1654_*1718delTTTTCATTTTACTTTAAGTTCTGGGATACAAGTG CAGAACGTATAGGTTTGTTACATAGGTATAT	NGLY1	ENSG00000151092.18	transcript	ENST00000280700.10	protein_coding		1202		chr3	TogoVar
NR3C1_chr5_143272934_143408686	143284951	TAATTTAT others(58): Show TAATTTATGGGTCAGACTACTGGAAACGAAGGAGGTACACAAAGAAAGGC CTCCAGAAATCTGTAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(224): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01346.hp1 HG01346.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp2 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA19000.hp2 NA19001.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19070.hp1 NA19078.hp1 NA19078.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0002c0007 a0003c0008 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(36): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0002t0004 a0001c0002t0006 a0001c0002t0016 a0001c0002t0018 a0001c0002t0019 a0001c0003t0004 a0001c0003t0006 a0001c0003t0008 a0001c0004t0001 a0001c0004t0004 a0001c0004t0005 a0001c0004t0027 a0001c0004t0033 a0001c0005t0009 a0002c0007t0034 a0003c0008t0003 a0004c0009t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0067 others(216): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0209 a0001c0001t0001g0248 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0062 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0207 a0001c0001t0003g0253 a0001c0001t0004g0087 a0001c0001t0004g0239 a0001c0001t0005g0063 a0001c0001t0005g0198 a0001c0001t0005g0199 a0001c0001t0005g0200 a0001c0001t0005g0201 a0001c0001t0005g0202 a0001c0001t0005g0203 a0001c0001t0005g0204 a0001c0001t0005g0205 a0001c0001t0005g0210 a0001c0001t0005g0211 a0001c0001t0005g0222 a0001c0001t0007g0001 a0001c0001t0007g0011 a0001c0001t0007g0012 a0001c0001t0007g0013 a0001c0001t0007g0014 a0001c0001t0007g0015 a0001c0001t0007g0017 a0001c0001t0007g0018 a0001c0001t0007g0020 a0001c0001t0007g0021 a0001c0001t0010g0061 a0001c0001t0010g0064 a0001c0001t0010g0070 a0001c0001t0010g0088 a0001c0001t0010g0095 a0001c0001t0012g0009 a0001c0001t0013g0010 a0001c0001t0014g0019 a0001c0001t0022g0186 a0001c0001t0023g0208 a0001c0001t0024g0206 a0001c0001t0025g0224 a0001c0001t0026g0115 a0001c0001t0028g0160 a0001c0001t0030g0194 a0001c0001t0031g0128 a0001c0001t0032g0065 a0001c0001t0035g0117 a0001c0001t0036g0214 a0001c0001t0037g0258 a0001c0002t0004g0060 a0001c0002t0004g0167 a0001c0002t0004g0168 a0001c0002t0006g0028 a0001c0002t0006g0030 a0001c0002t0006g0031 a0001c0002t0006g0032 a0001c0002t0006g0033 a0001c0002t0006g0036 a0001c0002t0006g0037 a0001c0002t0006g0038 a0001c0002t0006g0041 a0001c0002t0016g0029 a0001c0002t0018g0040 a0001c0002t0019g0039 a0001c0003t0004g0054 a0001c0003t0006g0022 a0001c0003t0006g0023 a0001c0003t0006g0046 a0001c0003t0008g0024 a0001c0003t0008g0025 a0001c0003t0008g0026 a0001c0003t0008g0027 a0001c0003t0008g0035 a0001c0003t0008g0042 a0001c0003t0008g0043 a0001c0003t0008g0044 a0001c0003t0008g0045 a0001c0004t0001g0137 a0001c0004t0004g0049 a0001c0004t0004g0050 a0001c0004t0004g0052 a0001c0004t0004g0053 a0001c0004t0004g0055 a0001c0004t0004g0056 a0001c0004t0004g0057 a0001c0004t0004g0059 a0001c0004t0005g0048 a0001c0004t0027g0058 a0001c0004t0033g0051 a0001c0005t0009g0008 a0001c0005t0009g0249 a0001c0005t0009g0250 a0001c0005t0009g0251 a0001c0005t0009g0252 a0001c0005t0009g0257 a0002c0007t0034g0256 a0003c0008t0003g0179 a0004c0009t0001g0075	227	266	0.8534	-65	c.202 others(84): Show c.2024-2291_2024-2227delGTACAGATTTCTGGAGGCCTTTCTTT GTGTACCTCCTTCGTTTCCAGTAGTCTGACCCATAAATT	NR3C1	ENSG00000113580.15	transcript	ENST00000394464.7	protein_coding	7/8			chr5	TogoVar
NRG3_chr10_81870194_82992178	82106153	GCAACTGA others(58): Show GCAACTGAGTGTTGAACAGAGGGGCCTGACCTTTGGTGACAATTGAAATG TAAGGTCAGTCAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA20129.hp1 HG02818.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0005 a0001c0005t0003 a0001c0001t0005 a0001c0005t0003	a0001c0001t0005g0044 a0001c0005t0003g0005 a0001c0001t0005g0044 a0001c0005t0003g0005	2	66	0.0303	-65	c.823 others(86): Show c.823+229992_823+230056delAACTGAGTGTTGAACAGAGGGGCC TGACCTTTGGTGACAATTGAAATGTAAGGTCAGTCAGAGAC	NRG3	ENSG00000185737.13	transcript	ENST00000372141.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
NT5DC3_chr12_103767310_103846234	103837573	TTCCACCA others(58): Show TTCCACCAGATACCCTAAATCATCTCTCTCAAGTTCAAAGTTCCACAAAT CTCTAGGGCAGGGGCA	T T	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0020 a0001c0004t0002g0020	1	386	0.0026	-65	c.208 others(82): Show c.208+3311_208+3375delTGCCCCTGCCCTAGAGATTTGTGGAACT TTGAACTTGAGAGAGATGATTTAGGGTATCTGGTGGA	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding	1/13			chr12	TogoVar
NTSR1_chr20_62703836_62767771	62705396	CGTTGGAG others(58): Show CGTTGGAGGGACTCAGGGTAAGCTAGCCAATGAAACAAGCAGGGACCCCC ACCCGTGCCGGGCAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02922.hp1 HG03540.hp2 others(1): Show HG02886.hp2 HG02922.hp1 HG03540.hp2 HG03704.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0021 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0021 a0004c0006t0008	a0001c0001t0001g0283 a0001c0001t0004g0174 a0001c0001t0021g0079 others(1): Show a0001c0001t0001g0283 a0001c0001t0004g0174 a0001c0001t0021g0079 a0004c0006t0008g0080	4	316	0.0127	-65	c.-38 others(76): Show c.-3811_-3747delGTTGGAGGGACTCAGGGTAAGCTAGCCAATGAAA CAAGCAGGGACCCCCACCCGTGCCGGGCAGT	NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding		3439		chr20	TogoVar
NUP210L_chr1_153987690_154160073	154125619	CTGAAAGG others(58): Show CTGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAA	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	290	0.0035	-65	c.132 others(82): Show c.1326+639_1326+703delTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCA	NUP210L	ENSG00000143552.10	transcript	ENST00000368559.8	protein_coding	10/39			chr1	TogoVar
NXNL1_chr19_17450425_17465926	17463903	GAGAAGGA others(58): Show GAGAAGGAGAAGAAGAAGAAAAGAAGAAGAAGAAAAGAAGAAGAAGAAGA AGAAGAAAGAAGAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 NA18981.hp1 HG03831.hp2 NA18981.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0077 a0002c0002t0002g0080 a0002c0002t0002g0077 a0002c0002t0002g0080	2	408	0.0049	-65	c.-30 others(76): Show c.-3099_-3035delTCTTCTTCTTTCTTCTTCTTCTTCTTCTTCTTTT CTTCTTCTTCTTTTCTTCTTCTTCTCCTTCT	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2978		chr19	TogoVar
NXPE4_chr11_114565591_114600786	114591461	CTGAAGGA others(58): Show CTGAAGGAAACAAGTTAGCAGATCAGGCAGCCAAGTCAGCAGCAAGAAAG CCTCATGACATCAACT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0226 a0003c0003t0002g0226	1	432	0.0023	-65	c.96+ others(80): Show c.96+3138_96+3202delAGTTGATGTCATGAGGCTTTCTTGCTGCTG ACTTGGCTGCCTGATCTGCTAACTTGTTTCCTTCA	NXPE4	ENSG00000137634.10	transcript	ENST00000375478.4	protein_coding	2/5			chr11	TogoVar
OR10H1_chr19_15799549_15820664	15812530	AAGGAAGG others(58): Show AAGGAAGGAAGGAGAGTGAGGGAGGAAAGGAGGAGAGTGAGGAAGGAAGA AAGGAGGGAGGGAGGC	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0165 a0001c0001t0035g0165	1	398	0.0025	-65	c.-49 others(74): Show c.-494_-430delGCCTCCCTCCCTCCTTTCTTCCTTCCTCACTCTCCT CCTTTCCTCCCTCACTCTCCTTCCTTCCT	OR10H1	ENSG00000186723.4	transcript	ENST00000641419.1	protein_coding	2/4	4494		chr19	TogoVar
OR11H1_chr22_15523192_15534139	15532849	CAAAAGAC others(58): Show CAAAAGACAGAGACAGAGAGAGAGAGAATGGAGGAACATGTCATACAATC AAATGAATCTTCCCAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	263	0.0038	-65	c.37 others(76): Show c.3711_*3775delAAAAGACAGAGACAGAGAGAGAGAGAATGGAGGA ACATGTCATACAATCAAATGAATCTTCCCAA	OR11H1	ENSG00000130538.6	transcript	ENST00000643195.1	protein_coding		3711		chr22	TogoVar
OR5D13_chr11_55768438_55779382	55773171	ATCAAAAT others(58): Show ATCAAAATCACCTGGAGACTTGACTAAACCACAAATAGTGGGCCTCATCC CAGAGCTTCTGTTCAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	432	0.0023	-65	c.-26 others(74): Show c.-266_-202delTCAAAATCACCTGGAGACTTGACTAAACCACAAATA GTGGGCCTCATCCCAGAGCTTCTGTTCAG	OR5D13	ENSG00000279761.2	transcript	ENST00000623930.1	protein_coding		266		chr11	TogoVar
OR9A4_chr7_141911399_141925625	141913801	AAAATAAA others(58): Show AAAATAAAATAAAATAAAATAAAATAAAATAAGATAAAATAAAAATAAAA TAAAATAAAATAAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	446	0.0022	-65	c.-28 others(76): Show c.-2865_-2801delAAATAAAATAAAATAAAATAAAATAAAATAAGAT AAAATAAAAATAAAATAAAATAAAATAAAAT	OR9A4	ENSG00000258083.2	transcript	ENST00000641559.1	protein_coding		2597		chr7	TogoVar
OSBPL10_chr3_31655825_31986262	31965759	TTAAAAGA others(58): Show TTAAAAGATAATATATATTATATAAATAGATAAGATATATTATCTATTTA TATAATATATATTATA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02809.hp2 NA19063.hp2 others(1): Show HG02486.hp1 HG02809.hp2 NA19063.hp2 NA19086.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0002c0004 a0003c0008 others(1): Show a0002c0003 a0002c0004 a0003c0008 a0003c0019	a0002c0003t0001 a0002c0004t0002 a0003c0008t0002 others(1): Show a0002c0003t0001 a0002c0004t0002 a0003c0008t0002 a0003c0019t0001	a0002c0003t0001g0078 a0002c0004t0002g0077 a0003c0008t0002g0008 others(1): Show a0002c0003t0001g0078 a0002c0004t0002g0077 a0003c0008t0002g0008 a0003c0019t0001g0007	4	186	0.0215	-65	c.281 others(84): Show c.281+15075_281+15139delTATAATATATATTATATAAATAGATA ATATATCTTATCTATTTATATAATATATATTATCTTTTA	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	1/11			chr3	TogoVar
OSTF1_chr9_75083514_75152265	75128516	TATATTTT others(58): Show TATATTTTGTCCATATATATATATATATATTTTGTCCATATATATATATA TATATATATTTTGTCC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG01496.hp2 others(5): Show HG00140.hp2 HG00408.hp2 HG01496.hp2 HG02027.hp2 HG02273.hp1 HG02698.hp1 HG03139.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0005 a0001c0002t0003 a0001c0003t0003 others(1): Show a0001c0001t0005 a0001c0002t0003 a0001c0003t0003 a0001c0003t0011	a0001c0001t0005g0268 a0001c0001t0005g0299 a0001c0002t0003g0164 others(5): Show a0001c0001t0005g0268 a0001c0001t0005g0299 a0001c0002t0003g0164 a0001c0002t0003g0248 a0001c0002t0003g0259 a0001c0002t0003g0260 a0001c0003t0003g0042 a0001c0003t0011g0146	8	366	0.0219	-65	c.132 others(80): Show c.132+902_132+966delTTTGTCCATATATATATATATATATTTTGT CCATATATATATATATATATATATTTTGTCCATAT	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
OTUD7A_chr15_31470398_31875673	31510838	TATGTATA others(58): Show TATGTATATCTATATGTAACATATATGTATATCTATATGTAACATATATG TATATCTATATGTAAC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0088 a0001c0001t0070g0088	1	244	0.0041	-65	c.894 others(82): Show c.894-7085_894-7021delGTTACATATAGATATACATATATGTTAC ATATAGATATACATATATGTTACATATAGATATACAT	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
OXSR1_chr3_38160537_38260484	38161516	TTCATATA others(58): Show TTCATATATTATGTATATTTCATTTACATAATATAGTTCATATATTATGT ATATTTCATATACATG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	248	0.0040	-65	c.-43 others(76): Show c.-4360_-4296delTCATATATTATGTATATTTCATTTACATAATATA GTTCATATATTATGTATATTTCATATACATG	OXSR1	ENSG00000172939.9	transcript	ENST00000311806.8	protein_coding		4020		chr3	TogoVar
P2RY12_chr3_151331843_151389753	151368604	TATTTTAT others(58): Show TATTTTATTTTATTTTATTTTATTTTATTTCATTTCATTTCATTTCATTT CATTTCATTTCATTTC	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG03704.hp1 HG03942.hp2 HG01261.hp1 HG03704.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0094 a0001c0001t0001g0016 a0001c0001t0001g0094	3	396	0.0076	-65	c.-18 others(86): Show c.-180+16023_-180+16087delGAAATGAAATGAAATGAAATGAAA TGAAATGAAATGAAATAAAATAAAATAAAATAAAATAAAAT	P2RY12	ENSG00000169313.10	transcript	ENST00000302632.4	protein_coding	1/2			chr3	TogoVar
P2RY12_chr3_151331843_151389753	151368619	TATTTTAT others(58): Show TATTTTATTTTATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTT CATTTCATGTCATTTC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00735.hp1 HG00741.hp1 others(3): Show HG00733.hp1 HG00735.hp1 HG00741.hp1 HG01515.hp2 HG04184.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0117 a0001c0001t0001g0240 others(2): Show a0001c0001t0001g0037 a0001c0001t0001g0117 a0001c0001t0001g0240 a0001c0001t0001g0291 a0001c0001t0001g0296	6	396	0.0152	-65	c.-18 others(86): Show c.-180+16008_-180+16072delGAAATGACATGAAATGAAATGAAA TGAAATGAAATGAAATGAAATGAAATGAAATAAAATAAAAT	P2RY12	ENSG00000169313.10	transcript	ENST00000302632.4	protein_coding	1/2			chr3	TogoVar
P2RY12_chr3_151331843_151389753	151368629	TATTTCAT others(58): Show TATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATGT CATTTCATTTTATTTC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01167.hp2 HG01361.hp1 others(17): Show HG00738.hp2 HG01167.hp2 HG01361.hp1 HG02132.hp1 HG02559.hp2 HG02683.hp2 HG03017.hp2 HG03834.hp1 HG04228.hp1 NA18939.hp1 NA18966.hp2 NA18969.hp1 NA18993.hp1 NA18994.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp1 NA19030.hp1 NA19070.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0003t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0004 a0001c0005t0001	a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 others(13): Show a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0129 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0170 a0001c0001t0002g0280 a0001c0003t0004g0147 a0001c0005t0001g0326	20	396	0.0505	-65	c.-18 others(86): Show c.-180+15998_-180+16062delGAAATAAAATGAAATGACATGAAA TGAAATGAAATGAAATGAAATGAAATGAAATGAAATGAAAT	P2RY12	ENSG00000169313.10	transcript	ENST00000302632.4	protein_coding	1/2			chr3	TogoVar
P2RY8_chrX_1457581_1542185	1463131	GTGCGTTA others(58): Show GTGCGTTACTGTGAAGATGCTACTCTGAGGTTTTTCACAGTTTTTTTTCC CCCATGAGACACACCC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0044 a0001c0001t0026g0044	1	114	0.0088	-65	c.22 others(76): Show c.2283_*2347delGGGTGTGTCTCATGGGGGAAAAAAAACTGTGAAA AACCTCAGAGTAGCATCTTCACAGTAACGCA	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	2/2	2283		chrX	TogoVar
P3H2_chr3_189951728_190125897	189966083	GAAGAAAG others(58): Show GAAGAAAGAAAGAAAGAAAGAAAAAAGAAAGAAAGAAAGAAAAAGAAAGA AAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0027 a0001c0001t0014g0027	1	304	0.0033	-65	c.189 others(84): Show c.1894-2050_1894-1986delTCTTTCTTTCTTTCTTTCTTTCTTTT TCTTTCTTTCTTTCTTTTTTCTTTCTTTCTTTCTTTCTT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	13/14			chr3	TogoVar
PAPPA2_chr1_176458175_176850601	176816176	ATATATAT others(58): Show ATATATATATATATATATATATGTACACATACACACACATATATAAAATT TATGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0029 a0001c0001t0004g0029	1	118	0.0085	-65	c.520 others(86): Show c.5202+16060_5202+16124delATATATGTACACATACACACACAT ATATAAAATTTATGTGTGTGTGTGTGTATATATATATATAT	PAPPA2	ENSG00000116183.11	transcript	ENST00000367662.5	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAXBP1_chr21_32728899_32776755	32771905	AGAGAGAG others(58): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGCGAGAG AGAGAGAGAGAGAGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	360	0.0028	-65	c.-30 others(74): Show c.-302_-238delCTCTCTCTCTCTCTCTCTCTCGCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCTC	PAXBP1	ENSG00000159086.15	transcript	ENST00000331923.9	protein_coding		151		chr21	TogoVar
PCGF3_chr4_700832_775089	722707	TGGGTCCA others(58): Show TGGGTCCACACTCGCGTCATCGCCCACCCACGCCGGGTCCACACTCGCGA CATCGCCATCCACGCC	T T	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0144 a0001c0001t0006g0144	1	366	0.0027	-65	c.-18 others(84): Show c.-189-7899_-189-7835delCACCCACGCCGGGTCCACACTCGCGA CATCGCCATCCACGCCGGGTCCACACTCGCGTCATCGCC	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCMTD2_chr20_64250748_64281226	64277706	CTTTCCCT others(58): Show CTTTCCCTTCTCTTTCTCTTGGAGACAGAGATGCTCTGAACAACTGTGGA CCTTGTGCTTATGTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00735.hp1 HG00741.hp2 others(37): Show HG00280.hp1 HG00735.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01175.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01928.hp1 HG01934.hp1 HG02083.hp1 HG02145.hp2 HG02257.hp1 HG02280.hp1 HG02559.hp1 HG02602.hp1 HG02683.hp1 HG02698.hp2 HG02735.hp2 HG03017.hp1 HG03130.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03669.hp1 HG03704.hp1 HG03834.hp2 HG04115.hp1 HG04199.hp1 HG04228.hp2 NA18906.hp1 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0019 a0001c0001t0022 others(1): Show a0001c0001t0001 a0001c0001t0019 a0001c0001t0022 a0001c0003t0001	a0001c0001t0001g0008 a0001c0001t0001g0021 a0001c0001t0001g0022 others(21): Show a0001c0001t0001g0008 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0019g0079 a0001c0001t0022g0075 a0001c0003t0001g0009 a0001c0003t0001g0022	40	332	0.1205	-65	c.41 others(76): Show c.4107_*4171delTTTCCCTTCTCTTTCTCTTGGAGACAGAGATGCT CTGAACAACTGTGGACCTTGTGCTTATGTCT	PCMTD2	ENSG00000203880.13	transcript	ENST00000308824.11	protein_coding		1481		chr20	TogoVar
PDE7B_chr6_135846701_136200574	135934960	TATATATA others(58): Show TATATATATTTCTCTATATATTTTATATAGAGATGAAGTATATATTTATA TATAAATAAATATATA	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01109.hp2 HG01255.hp2 others(36): Show HG00544.hp2 HG01109.hp2 HG01255.hp2 HG01884.hp1 HG01952.hp2 HG01981.hp1 HG02155.hp1 HG02165.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02698.hp2 HG02717.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03540.hp1 HG03669.hp2 HG03710.hp2 HG03834.hp2 HG03942.hp2 HG04228.hp2 NA18944.hp1 NA18995.hp2 NA19001.hp1 NA19011.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0002c0005 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0015 a0001c0001t0019 a0001c0001t0029 a0001c0001t0034 a0001c0001t0036 a0001c0002t0004 a0001c0002t0010 a0001c0002t0018 a0001c0003t0006 a0001c0003t0027 a0002c0005t0014 a0003c0004t0013	a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0060 others(36): Show a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0083 a0001c0001t0001g0104 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0002g0006 a0001c0001t0002g0023 a0001c0001t0002g0030 a0001c0001t0002g0096 a0001c0001t0003g0136 a0001c0001t0004g0011 a0001c0001t0005g0070 a0001c0001t0005g0087 a0001c0001t0006g0116 a0001c0001t0007g0035 a0001c0001t0007g0139 a0001c0001t0009g0128 a0001c0001t0015g0093 a0001c0001t0019g0141 a0001c0001t0029g0009 a0001c0001t0034g0004 a0001c0001t0036g0052 a0001c0002t0004g0008 a0001c0002t0010g0017 a0001c0002t0018g0002 a0001c0003t0006g0001 a0001c0003t0027g0074 a0002c0005t0014g0028 a0003c0004t0013g0024	39	142	0.2747	-65	c.22- others(82): Show c.22-12406_22-12342delTGAAGTATATATTTATATATAAATAAAT ATATAATATATATTTCTCTATATATTTTATATAGAGA	PDE7B	ENSG00000171408.14	transcript	ENST00000308191.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
PERM1_chr1_970198_987093	975118	GAGAGAGG others(58): Show GAGAGAGGAGAAGAGAGAAAAGAAGAGAAGAGAGAAGAGAAGAGAAGGAA AGAGAGAGAGAGAATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	408	0.0025	-65	c.98 others(75): Show c.989_*1053delTATTCTCTCTCTCTCTTTCCTTCTCTTCTCTTCTC TCTTCTCTTCTTTTCTCTCTTCTCCTCTCT	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding		79		chr1	TogoVar
PERM1_chr1_970198_987093	976842	GCCAACCC others(58): Show GCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGC CTCCCACTCCCCCCGC	G G	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	408	0.0025	-65	c.215 others(82): Show c.2150-283_2150-219delGCGGGGGGAGTGGGAGGCGGTTCCCGGG GTTGGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PFAS_chr17_8244289_8275486	8267890	TAAATATA others(58): Show TAAATATATATTATTTATATATATTATTTATATATTATTAAAATGTATAT TATTTATATATTATTA	T T	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0112 a0003c0003t0001g0112	1	388	0.0026	-65	c.338 others(82): Show c.3382+269_3382+333delGTATATTATTTATATATTATTAAAATAT ATATTATTTATATATATTATTTATATATTATTAAAAT	PFAS	ENSG00000178921.14	transcript	ENST00000314666.11	protein_coding	26/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
PFKP_chr10_3062548_3141802	3106196	AGGGAGGC others(58): Show AGGGAGGCAGAAAGCATGGCGTGCACGGGGCGCCTGTGGGGCGTCCACCT GTGTGTCCTTCCCCAT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01243.hp2 HG02257.hp1 others(10): Show HG01081.hp2 HG01243.hp2 HG02257.hp1 HG02559.hp2 HG02647.hp1 HG02897.hp2 HG02965.hp2 HG03098.hp2 HG03453.hp1 HG03453.hp2 NA18906.hp1 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0011 a0001c0014 a0001c0016 others(5): Show a0001c0011 a0001c0014 a0001c0016 a0001c0017 a0001c0026 a0001c0036 a0001c0045 a0001c0067	a0001c0011t0003 a0001c0014t0004 a0001c0014t0006 others(6): Show a0001c0011t0003 a0001c0014t0004 a0001c0014t0006 a0001c0016t0001 a0001c0017t0011 a0001c0026t0001 a0001c0036t0011 a0001c0045t0003 a0001c0067t0005	a0001c0011t0003g0058 a0001c0011t0003g0361 a0001c0014t0004g0162 others(10): Show a0001c0011t0003g0058 a0001c0011t0003g0361 a0001c0014t0004g0162 a0001c0014t0006g0213 a0001c0014t0006g0353 a0001c0014t0006g0390 a0001c0016t0001g0222 a0001c0017t0011g0003 a0001c0017t0011g0357 a0001c0026t0001g0171 a0001c0036t0011g0164 a0001c0045t0003g0364 a0001c0067t0005g0270	13	402	0.0323	-65	c.775 others(80): Show c.775-818_775-754delGGCAGAAAGCATGGCGTGCACGGGGCGCCT GTGGGGCGTCCACCTGTGTGTCCTTCCCCATGGGA	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr10	TogoVar

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